#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
SERPINA10	51156	broad.mit.edu	37	14	94756570	94756570	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr14:94756570C>G	ENST00000393096.1	-	2	826	c.361G>C	c.(361-363)Gaa>Caa	p.E121Q	SERPINA10_ENST00000261994.4_Missense_Mutation_p.E121Q|SERPINA10_ENST00000554173.1_Missense_Mutation_p.E121Q|SERPINA10_ENST00000554723.1_Missense_Mutation_p.E161Q	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	121					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E121Q(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		ATCTGGGTTTCAGTCGGCCCT	0.592																																						ENST00000554723.1																			1	Substitution - Missense(1)	p.E121Q(1)	upper_aerodigestive_tract(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(481-483)Gaa>Caa		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10							49.0	50.0	49.0					14																	94756570		2203	4300	6503	SO:0001583	missense	51156				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94756570C>G	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.361G>C	14.37:g.94756570C>G	ENSP00000376809:p.Glu121Gln					SERPINA10_ENST00000261994.4_Missense_Mutation_p.E121Q|SERPINA10_ENST00000554173.1_Missense_Mutation_p.E121Q|SERPINA10_ENST00000393096.1_Missense_Mutation_p.E121Q	p.E161Q			Q9UK55	ZPI_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	2	899	-		all_cancers(154;0.105)	121		T -> S (in dbSNP:rs2232700).			A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	ENST00000393096.1	37	c.481G>C	CCDS9923.1	.	.	.	.	.	.	.	.	.	.	C	0.103	-1.149134	0.01714	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	4.12	-1.83	0.07833	Serpin domain (3);	1.335640	0.04981	N	0.465717	T	0.65954	0.2741	N	0.04203	-0.255	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.52852	-0.8520	10	0.22706	T	0.39	.	5.3708	0.16138	0.1002:0.0868:0.5552:0.2578	.	121	Q9UK55	ZPI_HUMAN	Q	161;121;121;121	ENSP00000450896:E161Q;ENSP00000376809:E121Q;ENSP00000261994:E121Q;ENSP00000450971:E121Q	ENSP00000261994:E121Q	E	-	1	0	SERPINA10	93826323	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.933000	0.03959	-0.099000	0.12263	-0.752000	0.03492	GAA		0.592	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		13	38	0	0	0	1	0	13	38				
LRRC49	54839	broad.mit.edu	37	15	71276542	71276542	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr15:71276542A>C	ENST00000260382.5	+	11	1375	c.1115A>C	c.(1114-1116)cAg>cCg	p.Q372P	LRRC49_ENST00000560691.1_Missense_Mutation_p.Q78P|LRRC49_ENST00000560369.1_Missense_Mutation_p.Q377P|LRRC49_ENST00000443425.2_Missense_Mutation_p.Q328P|LRRC49_ENST00000560158.2_Missense_Mutation_p.Q60P|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.Q362P	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	372						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GACTCTCCTCAGGACCCCTGT	0.413																																						ENST00000260382.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						c.(1114-1116)cAg>cCg		leucine rich repeat containing 49							116.0	104.0	108.0					15																	71276542		2199	4297	6496	SO:0001583	missense	54839					cytoplasm|microtubule		g.chr15:71276542A>C		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1115A>C	15.37:g.71276542A>C	ENSP00000260382:p.Gln372Pro					LRRC49_ENST00000560691.1_Missense_Mutation_p.Q78P|LRRC49_ENST00000443425.2_Missense_Mutation_p.Q328P|LRRC49_ENST00000560369.1_Missense_Mutation_p.Q377P|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560158.2_Missense_Mutation_p.Q60P|LRRC49_ENST00000544974.2_Missense_Mutation_p.Q362P	p.Q372P	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN			11	1375	+			372					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	c.1115A>C	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.860934	0.32884	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.24350	1.86;1.86;1.86	4.31	1.92	0.25849	.	0.272597	0.36002	N	0.002860	T	0.23649	0.0572	L	0.51422	1.61	0.30152	N	0.802992	P;D;P;P;P	0.53619	0.778;0.961;0.93;0.885;0.944	B;P;B;B;P	0.48030	0.198;0.505;0.409;0.232;0.564	T	0.12116	-1.0560	10	0.30854	T	0.27	-5.0647	4.864	0.13598	0.7416:0.0:0.0941:0.1643	.	377;344;328;372;362	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	P	362;372;328;344	ENSP00000439600:Q362P;ENSP00000260382:Q372P;ENSP00000414065:Q328P	ENSP00000260382:Q372P	Q	+	2	0	LRRC49	69063596	1.000000	0.71417	0.476000	0.27291	0.300000	0.27592	1.838000	0.39211	0.273000	0.22049	0.383000	0.25322	CAG		0.413	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		6	88	0	0	0	1	0	6	88				
MAP3K12	7786	broad.mit.edu	37	12	53876750	53876750	+	Missense_Mutation	SNP	G	G	T	rs368607330		TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr12:53876750G>T	ENST00000267079.2	-	12	1963	c.1738C>A	c.(1738-1740)Cta>Ata	p.L580I	MAP3K12_ENST00000547488.1_Missense_Mutation_p.L613I|MAP3K12_ENST00000547035.1_Missense_Mutation_p.L613I	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	580					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CCCCCTCCTAGGCCCCCTGGG	0.662																																						ENST00000267079.2																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(1738-1740)Cta>Ata		mitogen-activated protein kinase kinase kinase 12							28.0	31.0	30.0					12																	53876750		2203	4299	6502	SO:0001583	missense	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53876750G>T	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.1738C>A	12.37:g.53876750G>T	ENSP00000267079:p.Leu580Ile					MAP3K12_ENST00000547488.1_Missense_Mutation_p.L613I|MAP3K12_ENST00000547035.1_Missense_Mutation_p.L613I	p.L580I	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			12	1963	-			580					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.1738C>A	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759499	0.31137	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.76839	-1.05;-1.05;-1.05	3.65	2.74	0.32292	.	0.000000	0.35708	N	0.003024	T	0.60327	0.2260	N	0.19112	0.55	0.27679	N	0.946506	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.52132	-0.8616	10	0.37606	T	0.19	.	8.5568	0.33487	0.0:0.0:0.7699:0.2301	.	613;580	G3V1Y2;Q12852	.;M3K12_HUMAN	I	580;613;613	ENSP00000267079:L580I;ENSP00000449038:L613I;ENSP00000448689:L613I	ENSP00000267079:L580I	L	-	1	2	MAP3K12	52163017	0.006000	0.16342	0.961000	0.40146	0.828000	0.46876	0.807000	0.27140	1.137000	0.42214	-0.555000	0.04198	CTA		0.662	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		12	25	1	0	2.80697e-09	1	2.97709e-09	12	25				
DCHS1	8642	broad.mit.edu	37	11	6654847	6654847	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr11:6654847G>A	ENST00000299441.3	-	5	2662	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	751	Cadherin 7. {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)	p.R751W(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAATTGGCCCGTCTGGCCAAG	0.547																																						ENST00000299441.3																			1	Substitution - Missense(1)	p.R751W(1)	liver(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(2251-2253)Cgg>Tgg		dachsous cadherin-related 1							24.0	21.0	22.0					11																	6654847		2201	4295	6496	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6654847G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.2251C>T	11.37:g.6654847G>A	ENSP00000299441:p.Arg751Trp					RP11-732A19.6_ENST00000526633.1_RNA	p.R751W	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	5	2662	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	751			Cadherin 7.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.2251C>T	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675636	0.67928	.	.	ENSG00000166341	ENST00000299441	T	0.51817	0.69	5.37	3.45	0.39498	Cadherin (4);Cadherin-like (1);	0.358932	0.20396	N	0.093146	T	0.59797	0.2220	L	0.57536	1.79	0.32924	D	0.516221	D	0.89917	1.0	D	0.80764	0.994	T	0.67381	-0.5685	10	0.87932	D	0	.	6.8221	0.23862	0.0859:0.0:0.5492:0.3649	.	751	Q96JQ0	PCD16_HUMAN	W	751	ENSP00000299441:R751W	ENSP00000299441:R751W	R	-	1	2	DCHS1	6611423	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.070000	0.57548	0.710000	0.31997	0.561000	0.74099	CGG		0.547	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		3	5	0	0	0	1	0	3	5				
CLASP1	23332	broad.mit.edu	37	2	122145474	122145474	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr2:122145474C>A	ENST00000263710.4	-	31	3521	c.3132G>T	c.(3130-3132)caG>caT	p.Q1044H	CLASP1_ENST00000409078.3_Missense_Mutation_p.Q1016H|CLASP1_ENST00000541377.1_Missense_Mutation_p.Q1022H|CLASP1_ENST00000541859.1_Missense_Mutation_p.Q800H|CLASP1_ENST00000455322.2_Missense_Mutation_p.Q1039H|CLASP1_ENST00000545861.1_Missense_Mutation_p.Q790H|CLASP1_ENST00000397587.3_Missense_Mutation_p.Q1023H	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1044					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)			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)					TTAGCACAATCTGTGCTGCCT	0.333																																						ENST00000263710.4																			0				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.(3130-3132)caG>caT		cytoplasmic linker associated protein 1							81.0	76.0	77.0					2																	122145474		1852	4103	5955	SO:0001583	missense	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.chr2:122145474C>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.3132G>T	2.37:g.122145474C>A	ENSP00000263710:p.Gln1044His					CLASP1_ENST00000409078.3_Missense_Mutation_p.Q1016H|CLASP1_ENST00000455322.2_Missense_Mutation_p.Q1039H|CLASP1_ENST00000397587.3_Missense_Mutation_p.Q1023H|CLASP1_ENST00000545861.1_Missense_Mutation_p.Q790H|CLASP1_ENST00000541377.1_Missense_Mutation_p.Q1022H|CLASP1_ENST00000541859.1_Missense_Mutation_p.Q800H	p.Q1044H	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN			31	3521	-	Renal(3;0.0496)		1044					B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37	c.3132G>T		.	.	.	.	.	.	.	.	.	.	C	20.2	3.943675	0.73672	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	6.02	-7.69	0.01263	Armadillo-like helical (1);Armadillo-type fold (1);	0.047845	0.85682	N	0.000000	T	0.74718	0.3753	M	0.61703	1.905	0.51012	D	0.999906	D;D;D	0.89917	0.996;1.0;0.998	D;D;D	0.87578	0.986;0.998;0.993	T	0.80542	-0.1336	10	0.87932	D	0	-4.549	17.5441	0.87856	0.0:0.5715:0.0:0.4285	.	1016;1023;1044	E7EUA5;F5GWS0;Q7Z460	.;.;CLAP1_HUMAN	H	1044;1039;1023;1022;800;1016;790	ENSP00000263710:Q1044H;ENSP00000389372:Q1039H;ENSP00000380717:Q1023H;ENSP00000441625:Q1022H;ENSP00000441770:Q800H;ENSP00000386442:Q1016H;ENSP00000438620:Q790H	ENSP00000263710:Q1044H	Q	-	3	2	CLASP1	121861944	0.997000	0.39634	0.762000	0.31397	0.991000	0.79684	0.433000	0.21477	-1.371000	0.02141	-0.238000	0.12139	CAG		0.333	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		5	26	1	0	0.000602214	1	0.000616301	5	26				
CNDP2	55748	broad.mit.edu	37	18	72167227	72167227	+	Silent	SNP	C	C	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr18:72167227C>T	ENST00000324262.4	+	2	335	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	CNDP2_ENST00000579847.1_Silent_p.L7L|CNDP2_ENST00000324301.8_Silent_p.L7L	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	7					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|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)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CCTCACTACCCTGTTTAAGTA	0.453																																						ENST00000324262.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24						c.(19-21)Ctg>Ttg		CNDP dipeptidase 2 (metallopeptidase M20 family)							108.0	95.0	99.0					18																	72167227		2203	4300	6503	SO:0001819	synonymous_variant	55748					cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	g.chr18:72167227C>T	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.19C>T	18.37:g.72167227C>T						CNDP2_ENST00000579847.1_Silent_p.L7L|CNDP2_ENST00000324301.8_Silent_p.L7L	p.L7L	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.22)	2	335	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	7					B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Silent	SNP	ENST00000324262.4	37	c.19C>T	CCDS12006.1																																																																																				0.453	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		12	29	0	0	0	1	0	12	29				
FAM186B	84070	broad.mit.edu	37	12	49992673	49992673	+	Silent	SNP	G	G	A	rs200823605		TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr12:49992673G>A	ENST00000257894.2	-	5	2390	c.2229C>T	c.(2227-2229)gcC>gcT	p.A743A	FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000544141.1_Silent_p.A653A	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	743						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGAGGTTCTGGGCCTTGTAGG	0.542																																						ENST00000544141.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1957-1959)gcC>gcT		family with sequence similarity 186, member B							137.0	117.0	124.0					12																	49992673		2203	4300	6503	SO:0001819	synonymous_variant	84070					protein complex		g.chr12:49992673G>A	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 25"""	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.2229C>T	12.37:g.49992673G>A						FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000257894.2_Silent_p.A743A	p.A653A			Q8IYM0	F186B_HUMAN			5	2558	-			743					B4DZ15|Q8TCP7|Q9H0L3	Silent	SNP	ENST00000257894.2	37	c.1959C>T	CCDS8788.1																																																																																				0.542	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		13	65	0	0	0	1	0	13	65				
GTF2F1	2962	broad.mit.edu	37	19	6380687	6380687	+	Missense_Mutation	SNP	C	C	T	rs377173937		TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr19:6380687C>T	ENST00000394456.5	-	12	1710	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K	PSPN_ENST00000597721.1_5'Flank|GTF2F1_ENST00000429701.2_Missense_Mutation_p.E331K	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	416					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|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 viral transcription (GO:0050434)|response to virus (GO:0009615)|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)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GCAGGCATCTCGCTCACCCGC	0.652																																						ENST00000394456.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						c.(1246-1248)Gag>Aag		general transcription factor IIF, polypeptide 1, 74kDa		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	42.0	38.0	39.0		1246	3.5	0.0	19		39	0,8600		0,0,4300	no	missense	GTF2F1	NM_002096.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	416/518	6380687	1,13005	2203	4300	6503	SO:0001583	missense	2962				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding	g.chr19:6380687C>T		CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"""General transcription factors"""	4652	protein-coding gene	gene with protein product		189968	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.1246G>A	19.37:g.6380687C>T	ENSP00000377969:p.Glu416Lys					GTF2F1_ENST00000429701.2_Missense_Mutation_p.E331K	p.E416K	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN			12	1710	-			416					B2RCS0|Q9BWN0	Missense_Mutation	SNP	ENST00000394456.5	37	c.1246G>A	CCDS12165.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.988806	0.35131	2.27E-4	0.0	ENSG00000125651	ENST00000394456;ENST00000429701	T;T	0.38887	1.11;1.11	3.48	3.48	0.39840	.	0.297708	0.31092	N	0.008261	T	0.28333	0.0700	L	0.29908	0.895	0.35030	D	0.758747	P;P;P	0.52061	0.903;0.95;0.851	B;B;B	0.41299	0.353;0.338;0.14	T	0.29549	-1.0008	10	0.10377	T	0.69	-28.3542	14.2929	0.66292	0.0:1.0:0.0:0.0	.	331;314;416	E7EUG6;B4DDB5;P35269	.;.;T2FA_HUMAN	K	416;331	ENSP00000377969:E416K;ENSP00000392107:E331K	ENSP00000377969:E416K	E	-	1	0	GTF2F1	6331687	0.984000	0.35163	0.039000	0.18376	0.009000	0.06853	5.026000	0.64103	1.960000	0.56953	0.655000	0.94253	GAG		0.652	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1	NM_002096		13	41	0	0	0	1	0	13	41				
KDM1B	221656	broad.mit.edu	37	6	18160204	18160204	+	Silent	SNP	C	C	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr6:18160204C>T	ENST00000297792.5	+	3	255	c.78C>T	c.(76-78)tcC>tcT	p.S26S	KDM1B_ENST00000397244.1_Silent_p.S26S|KDM1B_ENST00000388870.2_Silent_p.S26S|KDM1B_ENST00000546309.2_Intron			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	26					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TGAGGAGCTCCGGTAGGCAGG	0.403																																						ENST00000388870.2																			0				breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						c.(76-78)tcC>tcT		lysine (K)-specific demethylase 1B							64.0	58.0	60.0					6																	18160204		2203	4300	6503	SO:0001819	synonymous_variant	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18160204C>T	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.78C>T	6.37:g.18160204C>T						KDM1B_ENST00000397244.1_Silent_p.S26S|KDM1B_ENST00000297792.5_Silent_p.S26S|KDM1B_ENST00000546309.2_Intron	p.S26S			Q8NB78	KDM1B_HUMAN			3	319	+			26					A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Silent	SNP	ENST00000297792.5	37	c.78C>T	CCDS34343.1																																																																																				0.403	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042		7	19	0	0	0	1	0	7	19				
MT1H	4496	broad.mit.edu	37	16	56704426	56704426	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr16:56704426T>C	ENST00000332374.4	+	2	108	c.37T>C	c.(37-39)Tgc>Cgc	p.C13R	MT1G_ENST00000569500.1_5'Flank|MT1H_ENST00000569155.1_Missense_Mutation_p.C13R|MT1G_ENST00000568675.1_5'Flank|MT1G_ENST00000444837.2_5'Flank|MT1G_ENST00000379811.3_5'Flank	NM_005951.2	NP_005942.1	P80294	MT1H_HUMAN	metallothionein 1H	13	Beta.				cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			lung(5)	5						AGGTGGCTCCTGCGCCTGCGC	0.547																																						ENST00000569155.1																			0				lung(5)	5						c.(37-39)Tgc>Cgc		metallothionein 1H							82.0	77.0	79.0					16																	56704426		2198	4300	6498	SO:0001583	missense	4496						metal ion binding|protein binding	g.chr16:56704426T>C	BC008408	CCDS10767.1	16q13	2008-02-05			ENSG00000205358	ENSG00000205358		"""Metallothioneins"""	7400	protein-coding gene	gene with protein product		156354		MT1		2286373, 8049263	Standard	NM_005951		Approved		uc002ejw.3	P80294	OTTHUMG00000133283	ENST00000332374.4:c.37T>C	16.37:g.56704426T>C	ENSP00000330587:p.Cys13Arg					MT1H_ENST00000332374.4_Missense_Mutation_p.C13R	p.C13R			P80294	MT1H_HUMAN			2	82	+			13			Beta.		B2RUY6	Missense_Mutation	SNP	ENST00000332374.4	37	c.37T>C	CCDS10767.1	.	.	.	.	.	.	.	.	.	.	T	9.558	1.117607	0.20877	.	.	ENSG00000205358	ENST00000332374	T	0.27402	1.67	2.54	2.54	0.30619	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.000000	0.85682	U	0.000000	T	0.45296	0.1335	.	.	.	0.80722	D	1	D	0.53151	0.958	P	0.58928	0.848	T	0.44159	-0.9346	9	0.72032	D	0.01	-4.4749	8.1679	0.31237	0.0:0.0:0.0:1.0	.	13	P80294	MT1H_HUMAN	R	13	ENSP00000330587:C13R	ENSP00000330587:C13R	C	+	1	0	MT1H	55261927	1.000000	0.71417	0.499000	0.27577	0.008000	0.06430	4.384000	0.59607	1.167000	0.42706	0.247000	0.18012	TGC		0.547	MT1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257063.1	NM_005951		11	34	0	0	0	1	0	11	34				
MYH7B	57644	broad.mit.edu	37	20	33575400	33575400	+	Silent	SNP	G	G	A	rs368364265	byFrequency	TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr20:33575400G>A	ENST00000262873.7	+	15	1406	c.1314G>A	c.(1312-1314)ggG>ggA	p.G438G	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	396	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TCAGCAGTGGGGACCTCCTCA	0.632													G|||	6	0.00119808	0.0	0.0014	5008	,	,		19505	0.005		0.0	False		,,,				2504	0.0					ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(1312-1314)ggG>ggA		myosin, heavy chain 7B, cardiac muscle, beta							91.0	102.0	99.0					20																	33575400		2075	4203	6278	SO:0001819	synonymous_variant	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33575400G>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1314G>A	20.37:g.33575400G>A							p.G438G	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		15	1406	+			396			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Silent	SNP	ENST00000262873.7	37	c.1314G>A	CCDS42869.1																																																																																				0.632	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		5	99	0	0	0	1	0	5	99				
ZFHX4	79776	broad.mit.edu	37	8	77766065	77766065	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr8:77766065G>A	ENST00000521891.2	+	10	7356	c.6908G>A	c.(6907-6909)cGg>cAg	p.R2303Q	ZFHX4_ENST00000455469.2_Missense_Mutation_p.R2258Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R2277Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R2258Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2258					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTAATGAACGGTACATTCGA	0.383										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(6907-6909)cGg>cAg		zinc finger homeobox 4							94.0	91.0	92.0					8																	77766065		1938	4143	6081	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766065G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.6908G>A	8.37:g.77766065G>A	ENSP00000430497:p.Arg2303Gln	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Missense_Mutation_p.R2258Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R2277Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R2258Q	p.R2303Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7356	+			2258					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.6908G>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144007	0.77888	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.59638	0.25;0.31;0.28;0.27	4.34	4.34	0.51931	.	0.000000	0.41097	U	0.000960	T	0.73434	0.3586	M	0.61703	1.905	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.988;0.995;0.995	T	0.76307	-0.3007	10	0.59425	D	0.04	.	17.3917	0.87434	0.0:0.0:1.0:0.0	.	2258;2258;2303	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Q	2303;2287;2258;2258;2277	ENSP00000430497:R2303Q;ENSP00000399605:R2258Q;ENSP00000050961:R2258Q;ENSP00000430848:R2277Q	ENSP00000050961:R2258Q	R	+	2	0	ZFHX4	77928620	1.000000	0.71417	0.908000	0.35775	0.970000	0.65996	9.601000	0.98297	2.417000	0.82017	0.650000	0.86243	CGG		0.383	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		17	41	0	0	0	1	0	17	41				
HIST1H2BK	85236	broad.mit.edu	37	6	27114533	27114533	+	Silent	SNP	C	C	T	rs566494838		TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr6:27114533C>T	ENST00000356950.1	-	1	44	c.45G>A	c.(43-45)tcG>tcA	p.S15S	HIST1H2AH_ENST00000377459.1_5'Flank|HIST1H2BK_ENST00000396891.4_Silent_p.S15S|MIR3143_ENST00000584253.1_RNA			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	15					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CGGCTTTCTTCGAGCCCTTCT	0.577																																						ENST00000396891.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(43-45)tcG>tcA		histone cluster 1, H2bk							113.0	100.0	104.0					6																	27114533		2203	4300	6503	SO:0001819	synonymous_variant	85236				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114533C>T	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.45G>A	6.37:g.27114533C>T						HIST1H2BK_ENST00000356950.1_Silent_p.S15S	p.S15S	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN			1	86	-			15					A8K7P7|Q2VPI7	Silent	SNP	ENST00000356950.1	37	c.45G>A	CCDS4621.1																																																																																				0.577	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		33	160	0	0	0	1	0	33	160				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs201948955		TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr21:14414855A>G	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		GCCAATGGCCATGCAGAAGTA	0.448																																						ENST00000507941.1																			0																																																			149992							g.chr21:14414855A>G	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414855A>G														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.448	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		5	33	0	0	0	1	0	5	33				
TCEAL7	56849	broad.mit.edu	37	X	102586458	102586458	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chrX:102586458C>T	ENST00000332431.4	+	3	381	c.127C>T	c.(127-129)Cag>Tag	p.Q43*	TCEAL7_ENST00000372666.1_Nonsense_Mutation_p.Q43*	NM_152278.3	NP_689491.1	Q9BRU2	TCAL7_HUMAN	transcription elongation factor A (SII)-like 7	43					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(1)|upper_aerodigestive_tract(1)	2						gaggctgcttcagtctctcga	0.438																																						ENST00000332431.4																			0				endometrium(1)|upper_aerodigestive_tract(1)	2						c.(127-129)Cag>Tag		transcription elongation factor A (SII)-like 7							52.0	52.0	52.0					X																	102586458		2203	4300	6503	SO:0001587	stop_gained	56849				negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:102586458C>T	BC016786	CCDS14506.1	Xq22.1	2014-03-21			ENSG00000182916	ENSG00000182916			28336	protein-coding gene	gene with protein product		300771				14702039, 16221301	Standard	NM_152278		Approved	MGC23947, WEX5	uc004ekc.2	Q9BRU2	OTTHUMG00000022096	ENST00000332431.4:c.127C>T	X.37:g.102586458C>T	ENSP00000329794:p.Gln43*					TCEAL7_ENST00000372666.1_Nonsense_Mutation_p.Q43*	p.Q43*	NM_152278.3	NP_689491.1	Q9BRU2	TCAL7_HUMAN			3	381	+			43					B3KSV2|Q96AT4	Nonsense_Mutation	SNP	ENST00000332431.4	37	c.127C>T	CCDS14506.1	.	.	.	.	.	.	.	.	.	.	C	35	5.572636	0.96553	.	.	ENSG00000182916	ENST00000332431;ENST00000372666	.	.	.	4.07	4.07	0.47477	.	0.000000	0.33772	N	0.004562	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-10.3648	10.6841	0.45833	0.0:1.0:0.0:0.0	.	.	.	.	X	43	.	ENSP00000329794:Q43X	Q	+	1	0	TCEAL7	102473114	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.454000	0.35178	2.283000	0.76528	0.594000	0.82650	CAG		0.438	TCEAL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057704.1	NM_152278		23	42	0	0	0	1	0	23	42				
USP24	23358	broad.mit.edu	37	1	55534753	55534753	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr1:55534753C>T	ENST00000294383.6	-	68	7827	c.7828G>A	c.(7828-7830)Gag>Aag	p.E2610K	USP24_ENST00000484447.1_5'Flank|USP24_ENST00000407756.1_Missense_Mutation_p.E2450K	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2610					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						CTTCTCAACTCACCAATCATC	0.438																																						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.(7828-7830)Gag>Aag		ubiquitin specific peptidase 24							123.0	117.0	119.0					1																	55534753		1976	4158	6134	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55534753C>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.7828G>A	1.37:g.55534753C>T	ENSP00000294383:p.Glu2610Lys					USP24_ENST00000407756.1_Missense_Mutation_p.E2450K	p.E2610K	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			68	7827	-			2610					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.7828G>A	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945932	0.73672	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.02606	4.23;4.25	4.85	4.85	0.62838	.	0.147805	0.43919	D	0.000515	T	0.02970	0.0088	L	0.29908	0.895	0.53688	D	0.999976	P	0.37781	0.608	B	0.26864	0.074	T	0.55604	-0.8115	10	0.72032	D	0.01	.	18.1758	0.89761	0.0:1.0:0.0:0.0	.	2450	B7WPF4	.	K	2610;2450	ENSP00000294383:E2610K;ENSP00000385700:E2450K	ENSP00000294383:E2610K	E	-	1	0	USP24	55307341	1.000000	0.71417	0.922000	0.36590	0.893000	0.52053	6.824000	0.75288	2.498000	0.84270	0.655000	0.94253	GAG		0.438	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			22	42	0	0	0	1	0	22	42				
THSD7A	221981	broad.mit.edu	37	7	11457183	11457183	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr7:11457183T>C	ENST00000423059.4	-	17	3682	c.3431A>G	c.(3430-3432)tAc>tGc	p.Y1144C	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1144	TSP type-1 11. {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)		GTCACAGAGGTAATCCTCTAC	0.428										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.(3430-3432)tAc>tGc		thrombospondin, type I, domain containing 7A							98.0	96.0	97.0					7																	11457183		1901	4116	6017	SO:0001583	missense	221981					integral to membrane		g.chr7:11457183T>C		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.3431A>G	7.37:g.11457183T>C	ENSP00000406482:p.Tyr1144Cys	HNSCC(18;0.044)				AC004538.3_ENST00000445839.1_RNA	p.Y1144C	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	17	3682	-			1144			TSP type-1 11.			Missense_Mutation	SNP	ENST00000423059.4	37	c.3431A>G	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	T	19.96	3.922738	0.73213	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.60424	0.19	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.70448	0.3225	L	0.50333	1.59	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.71925	-0.4445	10	0.52906	T	0.07	.	15.3575	0.74440	0.0:0.0:0.0:1.0	.	1144	Q9UPZ6	THS7A_HUMAN	C	1144	ENSP00000406482:Y1144C	ENSP00000262042:Y1144C	Y	-	2	0	THSD7A	11423708	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.177000	0.71961	2.038000	0.60285	0.533000	0.62120	TAC		0.428	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		9	29	0	0	0	1	0	9	29				
CENPP	401541	broad.mit.edu	37	9	95086373	95086373	+	5'Flank	SNP	A	A	G			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr9:95086373A>G	ENST00000375587.3	+	0	0				NOL8_ENST00000358855.4_5'UTR|NOL8_ENST00000542053.1_Intron|NOL8_ENST00000442668.2_Missense_Mutation_p.L24P|NOL8_ENST00000535387.1_Missense_Mutation_p.L24P|NOL8_ENST00000545558.1_Missense_Mutation_p.L24P|NOL8_ENST00000543985.1_5'UTR	NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P						CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						CTGATTTTGTAGGTCTGCCTC	0.458																																						ENST00000545558.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.(70-72)cTa>cCa		nucleolar protein 8							148.0	141.0	143.0					9																	95086373		1889	4109	5998	SO:0001631	upstream_gene_variant	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95086373A>G	AK091247	CCDS35063.1, CCDS69618.1	9q22.31	2013-11-05			ENSG00000188312	ENSG00000188312			32933	protein-coding gene	gene with protein product		611505				16622419, 16622420	Standard	NM_001286969		Approved	RP11-19J3.3, CENP-P	uc004arz.3	Q6IPU0	OTTHUMG00000020228		9.37:g.95086373A>G	Exception_encountered					NOL8_ENST00000442668.2_Missense_Mutation_p.L24P|NOL8_ENST00000543985.1_5'UTR|NOL8_ENST00000542053.1_Intron|NOL8_ENST00000535387.1_Missense_Mutation_p.L24P|NOL8_ENST00000358855.4_5'UTR	p.L24P			Q76FK4	NOL8_HUMAN			2	563	-			24			RRM.		B3KRA5|B3KS17|Q5T9F8|Q5T9F9	Missense_Mutation	SNP	ENST00000375587.3	37	c.71T>C	CCDS35063.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.959058	0.74016	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000545558;ENST00000535387;ENST00000432670;ENST00000433029;ENST00000421075;ENST00000536624	T;T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31;2.31	5.04	5.04	0.67666	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.078365	0.53938	D	0.000056	T	0.59851	0.2224	H	0.98612	4.28	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77078	-0.2721	10	0.87932	D	0	-8.0597	15.2378	0.73443	1.0:0.0:0.0:0.0	.	24	Q76FK4	NOL8_HUMAN	P	24	ENSP00000401177:L24P;ENSP00000441140:L24P;ENSP00000441300:L24P;ENSP00000414112:L24P;ENSP00000412471:L24P;ENSP00000390143:L24P;ENSP00000442037:L24P	ENSP00000354115:L24P	L	-	2	0	NOL8	94126194	1.000000	0.71417	0.904000	0.35570	0.597000	0.36814	7.632000	0.83247	2.248000	0.74166	0.533000	0.62120	CTA		0.458	CENPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053098.1	NM_001012267		53	50	0	0	0	1	0	53	50				
DCAF8L1	139425	broad.mit.edu	37	X	27998101	27998101	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chrX:27998101C>T	ENST00000441525.1	-	1	1465	c.1351G>A	c.(1351-1353)Gag>Aag	p.E451K		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	451										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						ACGACAAACTCACTCCGGGGG	0.458																																						ENST00000441525.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(1351-1353)Gag>Aag		DDB1 and CUL4 associated factor 8-like 1							43.0	37.0	39.0					X																	27998101		2202	4300	6502	SO:0001583	missense	139425							g.chrX:27998101C>T		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1351G>A	X.37:g.27998101C>T	ENSP00000405222:p.Glu451Lys						p.E451K	NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN			1	1465	-			451					B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.1351G>A	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115693	0.56505	.	.	ENSG00000226372	ENST00000441525	T	0.80480	-1.38	0.842	0.842	0.18927	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.129753	0.50627	D	0.000107	D	0.86272	0.5893	M	0.69823	2.125	0.45261	D	0.998262	D	0.89917	1.0	D	0.76071	0.987	D	0.84430	0.0576	9	0.36615	T	0.2	-14.8388	.	.	.	.	451	A6NGE4	DC8L1_HUMAN	K	451	ENSP00000405222:E451K	ENSP00000405222:E451K	E	-	1	0	DCAF8L1	27908022	1.000000	0.71417	0.389000	0.26208	0.130000	0.20726	4.373000	0.59537	0.691000	0.31592	0.284000	0.19432	GAG		0.458	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		6	29	0	0	0	1	0	6	29				
PABPC3	5042	broad.mit.edu	37	13	25671519	25671519	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr13:25671519C>G	ENST00000281589.3	+	1	1220	c.1183C>G	c.(1183-1185)Cag>Gag	p.Q395E		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	395					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGTGCCCAACCAGCGAGCACC	0.502																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(1183-1185)Cag>Gag		poly(A) binding protein, cytoplasmic 3							156.0	144.0	148.0					13																	25671519		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671519C>G	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1183C>G	13.37:g.25671519C>G	ENSP00000281589:p.Gln395Glu						p.Q395E	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1220	+		Lung SC(185;0.0225)|Breast(139;0.0602)	395					Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.1183C>G	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	8.983	0.975872	0.18736	.	.	ENSG00000151846	ENST00000281589	T	0.30714	1.52	0.875	0.875	0.19130	.	0.346678	0.19531	U	0.112022	T	0.28863	0.0716	M	0.77103	2.36	0.33631	D	0.606036	B	0.29253	0.239	B	0.28465	0.09	T	0.27839	-1.0062	10	0.38643	T	0.18	.	5.0418	0.14463	0.0:1.0:0.0:0.0	.	395	Q9H361	PABP3_HUMAN	E	395	ENSP00000281589:Q395E	ENSP00000281589:Q395E	Q	+	1	0	PABPC3	24569519	1.000000	0.71417	0.960000	0.40013	0.453000	0.32348	4.783000	0.62403	0.759000	0.33084	0.313000	0.20887	CAG		0.502	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		9	74	0	0	0	1	0	9	74				
CFP	5199	broad.mit.edu	37	X	47486637	47486637	+	Silent	SNP	C	C	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chrX:47486637C>T	ENST00000396992.3	-	5	789	c.669G>A	c.(667-669)aaG>aaA	p.K223K	CFP_ENST00000247153.3_Silent_p.K223K|CFP_ENST00000377005.2_Silent_p.K223K|CFP_ENST00000480317.1_5'Flank	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	223	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GTGCAGAACACTTGCGGCTTC	0.692																																						ENST00000247153.3																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						c.(667-669)aaG>aaA		complement factor properdin							51.0	57.0	55.0					X																	47486637		2203	4300	6503	SO:0001819	synonymous_variant	5199				complement activation, alternative pathway|defense response to bacterium	extracellular space		g.chrX:47486637C>T	M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"""Complement system"""	8864	protein-coding gene	gene with protein product		300383	"""properdin P factor, complement"""	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.669G>A	X.37:g.47486637C>T						CFP_ENST00000396992.3_Silent_p.K223K|CFP_ENST00000377005.2_Silent_p.K223K	p.K223K	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN			6	910	-			223			TSP type-1 3.		O15134|O15135|O15136|O75826	Silent	SNP	ENST00000396992.3	37	c.669G>A	CCDS14282.1																																																																																				0.692	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2	NM_002621		8	26	0	0	0	1	0	8	26				
C3	718	broad.mit.edu	37	19	6696667	6696667	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr19:6696667C>T	ENST00000245907.6	-	22	2892	c.2800G>A	c.(2800-2802)Gaa>Aaa	p.E934K		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	934					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CTGATTCCTTCCGGCTACGCA	0.577																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(2800-2802)Gaa>Aaa		complement component 3							143.0	136.0	139.0					19																	6696667		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6696667C>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2800G>A	19.37:g.6696667C>T	ENSP00000245907:p.Glu934Lys						p.E934K	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	22	2892	-			934					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.2800G>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415769	0.62511	.	.	ENSG00000125730	ENST00000245907	T	0.44482	0.92	5.76	4.73	0.59995	.	0.312153	0.33272	N	0.005081	T	0.64670	0.2619	M	0.83483	2.645	0.36003	D	0.83752	D	0.89917	1.0	D	0.79108	0.992	T	0.75306	-0.3364	10	0.66056	D	0.02	.	10.6934	0.45884	0.0:0.9122:0.0:0.0878	.	934	P01024	CO3_HUMAN	K	934	ENSP00000245907:E934K	ENSP00000245907:E934K	E	-	1	0	C3	6647667	0.968000	0.33430	0.879000	0.34478	0.228000	0.25075	2.357000	0.44125	1.445000	0.47624	0.585000	0.79938	GAA		0.577	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		34	123	0	0	0	1	0	34	123				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		6	46	0	0	0	1	0	6	46				
ZFP64	55734	broad.mit.edu	37	20	50768911	50768911	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr20:50768911G>A	ENST00000216923.4	-	6	2169	c.1820C>T	c.(1819-1821)tCg>tTg	p.S607L	ZFP64_ENST00000346617.4_Missense_Mutation_p.S553L|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.S605L|ZFP64_ENST00000361387.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	607					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(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AGTAATACCCGAACTGGTAAT	0.562																																						ENST00000216923.4																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1819-1821)tCg>tTg		ZFP64 zinc finger protein							78.0	68.0	71.0					20																	50768911		2203	4300	6503	SO:0001583	missense	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50768911G>A	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1820C>T	20.37:g.50768911G>A	ENSP00000216923:p.Ser607Leu					ZFP64_ENST00000371515.4_Missense_Mutation_p.S605L|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Missense_Mutation_p.S553L|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron	p.S607L	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN			6	2169	-			607					Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	c.1820C>T	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764224	0.31228	.	.	ENSG00000020256	ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083	T;T;T	0.10573	2.87;2.91;2.86	5.46	5.46	0.80206	.	0.000000	0.52532	D	0.000061	T	0.13628	0.0330	L	0.32530	0.975	0.47441	D	0.999421	D;P;P	0.54047	0.964;0.94;0.94	P;B;B	0.44597	0.454;0.267;0.267	T	0.00931	-1.1510	10	0.87932	D	0	-10.7958	19.3237	0.94253	0.0:0.0:1.0:0.0	.	553;605;607	Q9NPA5-2;Q5JWM1;Q9NPA5	.;.;ZF64A_HUMAN	L	607;553;605;449	ENSP00000216923:S607L;ENSP00000344615:S553L;ENSP00000360570:S605L	ENSP00000216923:S607L	S	-	2	0	ZFP64	50202318	1.000000	0.71417	0.974000	0.42286	0.124000	0.20399	6.731000	0.74785	2.563000	0.86464	0.650000	0.86243	TCG		0.562	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		12	44	0	0	0	1	0	12	44				
SLC35D3	340146	broad.mit.edu	37	6	137243653	137243653	+	Silent	SNP	C	C	G			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr6:137243653C>G	ENST00000331858.4	+	1	252	c.87C>G	c.(85-87)ctC>ctG	p.L29L		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	29					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		ACATCTTGCTCAAGTTCCTCA	0.692																																						ENST00000331858.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13						c.(85-87)ctC>ctG		solute carrier family 35, member D3							46.0	40.0	42.0					6																	137243653		2201	4296	6497	SO:0001819	synonymous_variant	340146				carbohydrate transport	integral to membrane		g.chr6:137243653C>G		CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"""Solute carriers"""	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	ENST00000331858.4:c.87C>G	6.37:g.137243653C>G							p.L29L	NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN		GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)	1	252	+	Colorectal(23;0.24)		29					B4DI58|Q5QNZ6|Q6NX71	Silent	SNP	ENST00000331858.4	37	c.87C>G	CCDS34544.1																																																																																				0.692	SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042389.2	XM_294017		4	22	0	0	0	1	0	4	22				
ZNF560	147741	broad.mit.edu	37	19	9577328	9577328	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr19:9577328C>A	ENST00000301480.4	-	10	2508	c.2295G>T	c.(2293-2295)gaG>gaT	p.E765D		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	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)			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						CAAAGGGTTTCTCTCCCATAT	0.438																																						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.(2293-2295)gaG>gaT		zinc finger protein 560							111.0	108.0	109.0					19																	9577328		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9577328C>A	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.2295G>T	19.37:g.9577328C>A	ENSP00000301480:p.Glu765Asp						p.E765D	NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN			10	2508	-			765					Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.2295G>T	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.149965	0.37923	.	.	ENSG00000198028	ENST00000301480	T	0.26810	1.71	1.62	0.54	0.17163	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28001	0.0690	L	0.39020	1.185	0.28513	N	0.913448	D	0.56287	0.975	P	0.54312	0.748	T	0.15578	-1.0432	9	0.72032	D	0.01	.	6.0483	0.19772	0.0:0.8117:0.0:0.1883	.	765	Q96MR9	ZN560_HUMAN	D	765	ENSP00000301480:E765D	ENSP00000301480:E765D	E	-	3	2	ZNF560	9438328	0.000000	0.05858	0.006000	0.13384	0.045000	0.14185	-0.810000	0.04505	0.227000	0.20999	0.313000	0.20887	GAG		0.438	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		24	72	1	0	1.85244e-09	1	1.98882e-09	24	72				
PNMA2	10687	broad.mit.edu	37	8	26366057	26366057	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr8:26366057T>G	ENST00000522362.2	-	3	1109	c.215A>C	c.(214-216)gAt>gCt	p.D72A	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	72					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)		gacatcagtatcttccagaag	0.483																																						ENST00000522362.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11						c.(214-216)gAt>gCt		paraneoplastic Ma antigen 2							74.0	74.0	74.0					8																	26366057		2203	4300	6503	SO:0001583	missense	10687				apoptosis	nucleolus	protein binding	g.chr8:26366057T>G		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.215A>C	8.37:g.26366057T>G	ENSP00000429344:p.Asp72Ala						p.D72A	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	1109	-		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)	72					B3KNY9|O94959|O95145|Q49A18|Q9UL43	Missense_Mutation	SNP	ENST00000522362.2	37	c.215A>C	CCDS34868.1	.	.	.	.	.	.	.	.	.	.	T	0.053	-1.243857	0.01481	.	.	ENSG00000240694	ENST00000522362	T	0.08984	3.03	3.77	3.77	0.43336	.	.	.	.	.	T	0.06508	0.0167	L	0.34521	1.04	0.25531	N	0.987271	B	0.26081	0.141	B	0.25759	0.063	T	0.35176	-0.9799	9	0.11794	T	0.64	-31.9313	9.1687	0.37067	0.0:0.0:0.0:1.0	.	72	Q9UL42	PNMA2_HUMAN	A	72	ENSP00000429344:D72A	ENSP00000429344:D72A	D	-	2	0	PNMA2	26421974	0.068000	0.21057	0.428000	0.26697	0.038000	0.13279	2.991000	0.49409	1.934000	0.56057	0.460000	0.39030	GAT		0.483	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2	NM_007257		24	36	0	0	0	1	0	24	36				
RIMS2	9699	broad.mit.edu	37	8	105263991	105263991	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr8:105263991A>C	ENST00000436393.2	+	28	4288	c.4047A>C	c.(4045-4047)agA>agC	p.R1349S	RIMS2_ENST00000339750.2_Missense_Mutation_p.R267S|RIMS2_ENST00000507740.1_Missense_Mutation_p.R1145S|RIMS2_ENST00000262231.10_Missense_Mutation_p.R1170S|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1331S			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1393	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)			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)			CTCTGACAAGAAGAGCTTCCC	0.428										HNSCC(12;0.0054)																												ENST00000507740.1																			0				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.(3433-3435)agA>agC		regulating synaptic membrane exocytosis 2							139.0	139.0	139.0					8																	105263991		1863	4090	5953	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105263991A>C	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.4047A>C	8.37:g.105263991A>C	ENSP00000390665:p.Arg1349Ser	HNSCC(12;0.0054)				RIMS2_ENST00000262231.10_Missense_Mutation_p.R1170S|RIMS2_ENST00000436393.2_Missense_Mutation_p.R1349S|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1331S|RIMS2_ENST00000339750.2_Missense_Mutation_p.R267S	p.R1145S	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		22	3671	+			1393					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.3435A>C		.	.	.	.	.	.	.	.	.	.	A	14.96	2.691526	0.48097	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000436393;ENST00000339750	T;T;T;T;T	0.20332	2.55;2.25;2.25;2.4;2.08	5.64	4.49	0.54785	.	.	.	.	.	T	0.36717	0.0977	L	0.60455	1.87	0.58432	D	0.999997	D;P;P;P	0.60160	0.987;0.573;0.573;0.775	D;B;B;B	0.66196	0.942;0.168;0.23;0.23	T	0.05801	-1.0863	9	0.45353	T	0.12	.	8.5929	0.33699	0.853:0.0:0.147:0.0	.	1349;1170;1145;1331	D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	.;.;.;.	S	1368;1331;1393;1170;1145;1349;267	ENSP00000384892:R1331S;ENSP00000262231:R1170S;ENSP00000423559:R1145S;ENSP00000390665:R1349S;ENSP00000342051:R267S	ENSP00000262231:R1170S	R	+	3	2	RIMS2	105333167	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.722000	0.54948	0.982000	0.38575	0.533000	0.62120	AGA		0.428	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		30	142	0	0	0	1	0	30	142				
BCRP7	100133163	broad.mit.edu	37	22	18844766	18844766	+	3'UTR	SNP	G	G	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18844766G>A																												ENST00000412938.1:c.*3013G>A	22.37:g.18844766G>A														0	3016	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.557	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	7	0	0	0	1	0	4	7				
ENTPD6	955	broad.mit.edu	37	20	25205869	25205869	+	Silent	SNP	G	G	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr20:25205869G>A	ENST00000376652.4	+	14	1435	c.1272G>A	c.(1270-1272)caG>caA	p.Q424Q	ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000360031.2_Silent_p.Q423Q|ENTPD6_ENST00000354989.5_Silent_p.Q407Q|ENTPD6_ENST00000433259.2_Missense_Mutation_p.E405K			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	424					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CACAGCCGCAGAGCAGCCCCT	0.627																																						ENST00000433259.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						c.(1213-1215)Gag>Aag		ectonucleoside triphosphate diphosphohydrolase 6 (putative)							114.0	82.0	93.0					20																	25205869		2203	4300	6503	SO:0001819	synonymous_variant	955					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	g.chr20:25205869G>A	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.1272G>A	20.37:g.25205869G>A						ENTPD6_ENST00000376652.4_Silent_p.Q424Q|ENTPD6_ENST00000360031.2_Silent_p.Q423Q|ENTPD6_ENST00000354989.5_Silent_p.Q407Q|ENTPD6_ENST00000485936.1_3'UTR	p.E405K			O75354	ENTP6_HUMAN			13	1339	+			0					A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation	SNP	ENST00000376652.4	37	c.1213G>A	CCDS13170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.34|19.34	3.809251|3.809251	0.70797|0.70797	.|.	.|.	ENSG00000197586|ENSG00000197586	ENST00000376641;ENST00000433259|ENST00000447877;ENST00000376666	T|.	0.19669|.	2.13|.	5.66|5.66	-3.84|-3.84	0.04256|0.04256	.|.	.|.	.|.	.|.	.|.	T|T	0.21921|0.21921	0.0528|0.0528	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.04013|.	0.001;0.001;0.001|.	T|T	0.33214|0.33214	-0.9877|-0.9877	8|4	0.06625|.	T|.	0.88|.	-0.5361|-0.5361	5.8613|5.8613	0.18749|0.18749	0.4945:0.2675:0.2379:0.0|0.4945:0.2675:0.2379:0.0	.|.	421;439;405|.	B4DDM7;B4DNK6;Q5QPI9|.	.;.;.|.	K|K	335;405|283;262	ENSP00000401895:E405K|.	ENSP00000365828:E335K|.	E|R	+|+	1|2	0|0	ENTPD6|ENTPD6	25153869|25153869	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-0.414000|-0.414000	0.07114|0.07114	-0.461000|-0.461000	0.06993|0.06993	0.563000|0.563000	0.77884|0.77884	GAG|AGA		0.627	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			7	24	0	0	0	1	0	7	24				
AMACR	23600	broad.mit.edu	37	5	34007993	34007993	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr5:34007993G>C	ENST00000335606.6	-	1	220	c.132C>G	c.(130-132)agC>agG	p.S44R	AMACR_ENST00000382085.3_Missense_Mutation_p.S44R|AMACR_ENST00000426255.2_Missense_Mutation_p.S44R|AMACR_ENST00000382072.2_Missense_Mutation_p.S44R|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000502637.1_Missense_Mutation_p.S44R|AMACR_ENST00000441713.2_Missense_Mutation_p.S44R|AMACR_ENST00000512079.1_Missense_Mutation_p.S44R|RP11-1084J3.4_ENST00000382079.3_Intron|AMACR_ENST00000382068.3_Missense_Mutation_p.S44R	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	44					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						GGCCCAAGCGGCTCACGTCGT	0.721																																						ENST00000335606.6																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						c.(130-132)agC>agG		alpha-methylacyl-CoA racemase							6.0	8.0	7.0					5																	34007993		2042	4073	6115	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.chr5:34007993G>C	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.132C>G	5.37:g.34007993G>C	ENSP00000334424:p.Ser44Arg					AMACR_ENST00000502637.1_Missense_Mutation_p.S44R|AMACR_ENST00000382072.2_Missense_Mutation_p.S44R|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000441713.2_Missense_Mutation_p.S44R|AMACR_ENST00000382085.3_Missense_Mutation_p.S44R	p.S44R	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN			1	220	-			44					A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	ENST00000335606.6	37	c.132C>G	CCDS3902.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745718	0.30955	.	.	ENSG00000242110	ENST00000335606;ENST00000382072;ENST00000382085;ENST00000502637;ENST00000441713	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	4.87	0.532	0.17114	CoA-transferase family III domain (2);	0.284461	0.43260	D	0.000583	T	0.22166	0.0534	N	0.10972	0.075	0.24093	N	0.995909	B;P;P;B;P;B	0.43826	0.024;0.818;0.534;0.263;0.544;0.263	B;B;B;B;B;B	0.40477	0.017;0.33;0.271;0.091;0.112;0.091	T	0.12066	-1.0562	10	0.51188	T	0.08	-9.4307	2.795	0.05398	0.1739:0.1399:0.5426:0.1436	.	44;44;44;44;44;44	B3KMU8;Q6VRU4;F8W9N1;D6RB81;Q9UHK6-4;Q9UHK6	.;.;.;.;.;AMACR_HUMAN	R	44	ENSP00000334424:S44R;ENSP00000371504:S44R;ENSP00000371517:S44R;ENSP00000424351:S44R;ENSP00000403800:S44R	ENSP00000334424:S44R	S	-	3	2	AMACR	34043750	0.792000	0.28813	0.001000	0.08648	0.242000	0.25591	1.324000	0.33712	0.274000	0.22072	0.591000	0.81541	AGC		0.721	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207467.1	NM_014324		4	12	0	0	0	1	0	4	12				
LHX9	56956	broad.mit.edu	37	1	197898183	197898183	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr1:197898183G>T	ENST00000367387.4	+	5	1413	c.988G>T	c.(988-990)Gag>Tag	p.E330*	LHX9_ENST00000367391.1_Intron|LHX9_ENST00000367390.3_Nonsense_Mutation_p.E321*|LHX9_ENST00000561173.1_Intron|LHX9_ENST00000337020.2_Intron	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	330					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TTTGCGGCAGGAGAATGGGGG	0.512																																						ENST00000367390.3																			0				endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						c.(961-963)Gag>Tag		LIM homeobox 9							60.0	64.0	63.0					1																	197898183		2203	4300	6503	SO:0001587	stop_gained	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197898183G>T	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.988G>T	1.37:g.197898183G>T	ENSP00000356357:p.Glu330*					LHX9_ENST00000367391.1_Intron|LHX9_ENST00000367387.4_Nonsense_Mutation_p.E330*|LHX9_ENST00000337020.2_Intron|LHX9_ENST00000561173.1_Intron	p.E321*	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN			6	988	+			330					Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Nonsense_Mutation	SNP	ENST00000367387.4	37	c.961G>T	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	G	41	8.575198	0.98870	.	.	ENSG00000143355	ENST00000367390;ENST00000367387	.	.	.	5.84	5.84	0.93424	.	0.101356	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	20.1294	0.97995	0.0:0.0:1.0:0.0	.	.	.	.	X	321;330	.	ENSP00000356357:E330X	E	+	1	0	LHX9	196164806	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.455000	0.97625	2.758000	0.94735	0.591000	0.81541	GAG		0.512	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		14	58	1	0	1.05317e-09	1	1.13768e-09	14	58				
CRAMP1L	57585	broad.mit.edu	37	16	1706889	1706889	+	Missense_Mutation	SNP	G	G	A	rs545529729		TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr16:1706889G>A	ENST00000397412.3	+	10	2230	c.2131G>A	c.(2131-2133)Ggc>Agc	p.G711S	CRAMP1L_ENST00000262317.4_Missense_Mutation_p.G89S|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.G708S|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.G711S|LA16c-431H6.6_ENST00000454337.1_3'UTR			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	711						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GCTGGGGCCCGGCCGCCAGGA	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		13141	0.0		0.0	False		,,,				2504	0.001					ENST00000397412.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						c.(2131-2133)Ggc>Agc		Crm, cramped-like (Drosophila)							3.0	4.0	3.0					16																	1706889		1731	3785	5516	SO:0001583	missense	57585					nucleus	DNA binding	g.chr16:1706889G>A	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.2131G>A	16.37:g.1706889G>A	ENSP00000380559:p.Gly711Ser					CRAMP1L_ENST00000436138.3_Missense_Mutation_p.G708S|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.G89S|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.G711S|LA16c-431H6.6_ENST00000454337.1_3'UTR	p.G711S			Q96RY5	CRML_HUMAN			10	2230	+			711					A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	37	c.2131G>A	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	G	0.553	-0.848555	0.02651	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138;ENST00000262317	.	.	.	3.34	1.34	0.21922	.	3.519670	0.00610	N	0.000403	T	0.21186	0.0510	N	0.14661	0.345	0.09310	N	1	B	0.24920	0.114	B	0.16289	0.015	T	0.15350	-1.0440	9	0.10111	T	0.7	0.0227	7.0956	0.25307	0.2904:0.0:0.7096:0.0	.	711	Q96RY5	CRML_HUMAN	S	711;711;708;89	.	ENSP00000262317:G89S	G	+	1	0	CRAMP1L	1646890	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	0.294000	0.19047	0.247000	0.21414	-0.234000	0.12200	GGC		0.662	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			3	1	0	0	0	1	0	3	1				
AMY2A	279	broad.mit.edu	37	1	104160597	104160597	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr1:104160597G>A	ENST00000414303.2	+	2	254	c.190G>A	c.(190-192)Gtt>Att	p.V64I		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	64					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	AAATGAAAATGTTGCAATTTA	0.333																																						ENST00000414303.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(190-192)Gtt>Att		amylase, alpha 2A (pancreatic)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)						190.0	168.0	176.0					1																	104160597		2201	4278	6479	SO:0001583	missense	279				carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding	g.chr1:104160597G>A	BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"""amylase, alpha 2A; pancreatic"""	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.190G>A	1.37:g.104160597G>A	ENSP00000397582:p.Val64Ile						p.V64I	NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	2	254	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	64					B9EJG1|Q9UBH3	Missense_Mutation	SNP	ENST00000414303.2	37	c.190G>A	CCDS783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.010|0.010	-1.742297|-1.742297	0.00675|0.00675	.|.	.|.	ENSG00000243480|ENSG00000243480	ENST00000423678|ENST00000414303;ENST00000393932	.|.	.|.	.|.	3.37|3.37	-2.45|-2.45	0.06481|0.06481	.|Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	.|0.427152	.|0.25747	.|N	.|0.028574	T|T	0.02494|0.02494	0.0076|0.0076	N|N	0.03154|0.03154	-0.405|-0.405	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.09377	.|0.004;0.002	T|T	0.34551|0.34551	-0.9824|-0.9824	5|9	.|0.02654	.|T	.|1	.|.	5.4546|5.4546	0.16584|0.16584	0.4153:0.2551:0.3296:0.0|0.4153:0.2551:0.3296:0.0	.|.	.|64;64	.|B9EJG1;P04746	.|.;AMYP_HUMAN	Y|I	62|64	.|.	.|ENSP00000377509:V64I	C|V	+|+	2|1	0|0	AMY2A|AMY2A	103962120|103962120	0.116000|0.116000	0.22171|0.22171	0.005000|0.005000	0.12908|0.12908	0.024000|0.024000	0.10985|0.10985	-0.109000|-0.109000	0.10840|0.10840	-0.648000|-0.648000	0.05437|0.05437	-1.407000|-1.407000	0.01130|0.01130	TGT|GTT		0.333	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030315.1	NM_000699		37	110	0	0	0	1	0	37	110				
PRIM1	5557	broad.mit.edu	37	12	57135538	57135538	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr12:57135538T>C	ENST00000338193.6	-	8	868	c.832A>G	c.(832-834)Aga>Gga	p.R278G		NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	278					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)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			kidney(1)|lung(6)|prostate(1)	8						ACCTGATATCTGCTGGCTACT	0.363																																						ENST00000338193.6																			0				kidney(1)|lung(6)|prostate(1)	8						c.(832-834)Aga>Gga		primase, DNA, polypeptide 1 (49kDa)							203.0	196.0	198.0					12																	57135538		1866	4115	5981	SO:0001583	missense	5557				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	DNA primase activity|metal ion binding	g.chr12:57135538T>C	BC005266	CCDS44926.1	12q13.3	2007-06-19	2007-06-19			ENSG00000198056			9369	protein-coding gene	gene with protein product		176635				8530050	Standard	NM_000946		Approved		uc001smd.3	P49642	OTTHUMG00000170034	ENST00000338193.6:c.832A>G	12.37:g.57135538T>C	ENSP00000350491:p.Arg278Gly						p.R278G	NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN			8	868	-			278						Missense_Mutation	SNP	ENST00000338193.6	37	c.832A>G	CCDS44926.1	.	.	.	.	.	.	.	.	.	.	T	6.386	0.439344	0.12104	.	.	ENSG00000198056	ENST00000537418;ENST00000338193;ENST00000549549;ENST00000550770	T;T	0.44482	0.92;0.93	4.73	-0.862	0.10673	.	2.182930	0.01704	N	0.027330	T	0.25717	0.0626	N	0.19112	0.55	0.09310	N	1	B	0.18013	0.025	B	0.18871	0.023	T	0.05683	-1.0870	10	0.26408	T	0.33	4.3772	1.9358	0.03337	0.1566:0.0913:0.3246:0.4274	.	278	P49642	PRI1_HUMAN	G	285;278;59;281	ENSP00000350491:R278G;ENSP00000450185:R281G	ENSP00000350491:R278G	R	-	1	2	PRIM1	55421805	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.029000	0.12329	-0.347000	0.08299	0.533000	0.62120	AGA		0.363	PRIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406956.1	NM_000946		55	159	0	0	0	1	0	55	159				
SULT4A1	25830	broad.mit.edu	37	22	44237688	44237688	+	Silent	SNP	G	G	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr22:44237688G>A	ENST00000330884.4	-	2	414	c.294C>T	c.(292-294)atC>atT	p.I98I	SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Silent_p.I98I	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	98					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		GTACCTTGATGATGTCCAGGC	0.587																																						ENST00000330884.4																			0				kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9						c.(292-294)atC>atT		sulfotransferase family 4A, member 1							70.0	74.0	73.0					22																	44237688		2203	4300	6503	SO:0001819	synonymous_variant	25830				3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity	g.chr22:44237688G>A	AF188698	CCDS14051.1	22q13.2	2012-11-05			ENSG00000130540	ENSG00000130540		"""Sulfotransferases, cytosolic"""	14903	protein-coding gene	gene with protein product		608359				10698717	Standard	NM_014351		Approved	SULTX3, hBR-STL-1	uc003bee.1	Q9BR01	OTTHUMG00000141314	ENST00000330884.4:c.294C>T	22.37:g.44237688G>A						SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Silent_p.I98I	p.I98I	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)	2	414	-		Ovarian(80;0.024)|all_neural(38;0.0416)	98					B2R7N3|O43728	Silent	SNP	ENST00000330884.4	37	c.294C>T	CCDS14051.1																																																																																				0.587	SULT4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280660.2	NM_014351		38	65	0	0	0	1	0	38	65				
CCNB3	85417	broad.mit.edu	37	X	50052898	50052898	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chrX:50052898G>A	ENST00000376042.1	+	6	2027	c.1729G>A	c.(1729-1731)Gag>Aag	p.E577K	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.E577K|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	577					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)					CCCTACAACTGAGGAGACAGT	0.408																																						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.(1729-1731)Gag>Aag		cyclin B3							43.0	38.0	39.0					X																	50052898		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:50052898G>A	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.1729G>A	X.37:g.50052898G>A	ENSP00000365210:p.Glu577Lys					CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.E577K	p.E577K			Q8WWL7	CCNB3_HUMAN			6	2027	+	Ovarian(276;0.236)		577					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.1729G>A	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389689	0.42410	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.37058	1.22;1.22	4.0	1.9	0.25705	.	968.947000	0.00166	N	0.000000	T	0.36524	0.0970	L	0.59436	1.845	0.09310	N	1	B	0.24043	0.096	B	0.25884	0.064	T	0.11891	-1.0569	9	.	.	.	.	4.8762	0.13656	0.3575:0.0:0.6425:0.0	.	577	Q8WWL7	CCNB3_HUMAN	K	577	ENSP00000365210:E577K;ENSP00000276014:E577K	.	E	+	1	0	CCNB3	50069638	0.008000	0.16893	0.001000	0.08648	0.005000	0.04900	0.681000	0.25320	0.318000	0.23185	0.529000	0.55759	GAG		0.408	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			15	24	0	0	0	1	0	15	24				
TAZ	6901	broad.mit.edu	37	X	153648421	153648421	+	Silent	SNP	C	C	T	rs587781186		TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chrX:153648421C>T	ENST00000350743.4	+	7	833	c.544C>T	c.(544-546)Ctg>Ttg	p.L182L	TAZ_ENST00000369790.4_Silent_p.L168L|TAZ_ENST00000498029.1_3'UTR|TAZ_ENST00000299328.5_Silent_p.L212L|TAZ_ENST00000369776.4_Silent_p.L143L|TAZ_ENST00000475699.1_Silent_p.L185L|TAZ_ENST00000351413.4_Silent_p.L198L	NM_181311.2	NP_851828.1	Q9GZV5	WWTR1_HUMAN	tafazzin	0					cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			lung(1)	1	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)					CATCCTGCCCCTGTGGCATGT	0.637																																						ENST00000299328.5																			0				lung(1)	1	GRCh37	CD972178	TAZ	D		c.(634-636)Ctg>Ttg		tafazzin							103.0	96.0	98.0					X																	153648421		2203	4300	6503	SO:0001819	synonymous_variant	6901				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity	g.chrX:153648421C>T	X92762	CCDS14748.1, CCDS14749.1, CCDS14750.1, CCDS35450.1	Xq28	2014-09-17	2008-07-29		ENSG00000102125	ENSG00000102125			11577	protein-coding gene	gene with protein product	"""Barth syndrome"""	300394	"""endocardial fibroelastosis 2"", ""cardiomyopathy, dilated 3A (X-linked)"""	CMD3A, EFE2, EFE		8042670	Standard	NM_000116		Approved	BTHS, XAP-2, G4.5	uc004fkx.3	Q16635	OTTHUMG00000033190	ENST00000350743.4:c.544C>T	X.37:g.153648421C>T						TAZ_ENST00000369776.4_Silent_p.L143L|TAZ_ENST00000351413.4_Silent_p.L198L|TAZ_ENST00000498029.1_3'UTR|TAZ_ENST00000350743.4_Silent_p.L182L|TAZ_ENST00000369790.4_Silent_p.L168L	p.L212L	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN			8	923	+	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)		212					D3DNH7|Q8N3P2|Q9Y3W6	Silent	SNP	ENST00000350743.4	37	c.634C>T	CCDS14749.1																																																																																				0.637	TAZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080939.1			36	97	0	0	0	1	0	36	97				
NOTCH2	4853	broad.mit.edu	37	1	120468088	120468088	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr1:120468088C>G	ENST00000256646.2	-	25	4570	c.4351G>C	c.(4351-4353)Gat>Cat	p.D1451H	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1451	Negative regulatory region (NRR).				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCACCCCCATCCCACTGGCAG	0.592			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(4351-4353)Gat>Cat		notch 2							75.0	74.0	74.0					1																	120468088		2203	4300	6503	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120468088C>G	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.4351G>C	1.37:g.120468088C>G	ENSP00000256646:p.Asp1451His						p.D1451H	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	25	4570	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1451			Negative regulatory region (NRR).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.4351G>C	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770933	0.90108	.	.	ENSG00000134250	ENST00000256646	D	0.94966	-3.57	5.86	5.86	0.93980	Notch domain (5);	0.000000	0.38897	U	0.001531	D	0.98093	0.9371	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98643	1.0676	10	0.87932	D	0	.	19.1747	0.93599	0.0:1.0:0.0:0.0	.	1451	Q04721	NOTC2_HUMAN	H	1451	ENSP00000256646:D1451H	ENSP00000256646:D1451H	D	-	1	0	NOTCH2	120269611	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.424000	0.80242	2.775000	0.95449	0.655000	0.94253	GAT		0.592	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		20	76	0	0	0	1	0	20	76				
CYP39A1	51302	broad.mit.edu	37	6	46518114	46518114	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr6:46518114G>A	ENST00000275016.2	-	12	1602	c.1399C>T	c.(1399-1401)Caa>Taa	p.Q467*		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	467					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						CATATTCTTTGTTTATATTCA	0.468																																						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.(1399-1401)Caa>Taa		cytochrome P450, family 39, subfamily A, polypeptide 1							133.0	138.0	136.0					6																	46518114		2203	4300	6503	SO:0001587	stop_gained	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.chr6:46518114G>A	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.1399C>T	6.37:g.46518114G>A	ENSP00000275016:p.Gln467*						p.Q467*	NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN			12	1602	-			467					Q5VTT0|Q96FW5	Nonsense_Mutation	SNP	ENST00000275016.2	37	c.1399C>T	CCDS4916.1	.	.	.	.	.	.	.	.	.	.	G	36	5.833108	0.97003	.	.	ENSG00000146233	ENST00000275016	.	.	.	5.82	2.53	0.30540	.	0.737127	0.13072	N	0.416037	.	.	.	.	.	.	0.40205	D	0.977569	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.3844	4.5632	0.12170	0.0916:0.1538:0.5967:0.1579	.	.	.	.	X	467	.	ENSP00000275016:Q467X	Q	-	1	0	CYP39A1	46626073	1.000000	0.71417	0.993000	0.49108	0.901000	0.52897	1.053000	0.30442	0.757000	0.33036	0.655000	0.94253	CAA		0.468	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1			10	28	0	0	0	1	0	10	28				
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Intron	SNP	C	C	T	rs568909748	byFrequency	TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr17:15441469C>T	ENST00000225576.3	-	5	558				TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000583206.1_5'Flank|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000584811.1_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAGTGTTCCGCAAAAGACA	0.393													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0					ENST00000584811.1																			0											c.e7-2		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																																				SO:0001627	intron_variant	201158							g.chr17:15441469C>T	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7629G>A	17.37:g.15441469C>T						TVP23C_ENST00000225576.3_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron								7	1815	-								Q3LIC7	Splice_Site	SNP	ENST00000225576.3	37		CCDS11170.1	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280351	0.40294	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0583	0.25111	0.0:0.1033:0.0:0.8967	.	.	.	.	.	-1	.	.	.	-	.	.	FAM18B2	15382194	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	1.919000	0.40015	0.852000	0.35287	-0.352000	0.07741	.		0.393	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		5	78	0	0	0	1	0	5	78				
SORCS1	114815	broad.mit.edu	37	10	108459049	108459049	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr10:108459049C>T	ENST00000263054.6	-	9	1343	c.1336G>A	c.(1336-1338)Gtc>Atc	p.V446I	SORCS1_ENST00000369698.1_5'UTR|SORCS1_ENST00000344440.6_Missense_Mutation_p.V446I	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	446					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GTGAAGTAGACACCACGTGTG	0.512																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(1336-1338)Gtc>Atc		sortilin-related VPS10 domain containing receptor 1							277.0	206.0	230.0					10																	108459049		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108459049C>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1336G>A	10.37:g.108459049C>T	ENSP00000263054:p.Val446Ile					SORCS1_ENST00000369698.1_5'UTR|SORCS1_ENST00000344440.6_Missense_Mutation_p.V446I	p.V446I	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	9	1343	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	446					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.1336G>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813883	0.32053	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.33216	1.42;1.42	6.06	4.23	0.50019	VPS10 (1);	0.225376	0.37219	N	0.002192	T	0.21267	0.0512	N	0.17082	0.46	0.39331	D	0.96541	B;B;B;B;B	0.27656	0.089;0.184;0.144;0.089;0.144	B;B;B;B;B	0.34093	0.085;0.101;0.175;0.085;0.175	T	0.06607	-1.0817	9	.	.	.	-13.5741	12.8625	0.57922	0.0:0.8689:0.0:0.1311	.	446;446;446;446;446	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	I	446	ENSP00000263054:V446I;ENSP00000345964:V446I	.	V	-	1	0	SORCS1	108449039	0.759000	0.28416	0.760000	0.31359	0.989000	0.77384	1.491000	0.35583	0.905000	0.36596	-0.157000	0.13467	GTC		0.512	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		18	54	0	0	0	1	0	18	54				
SLCO4C1	353189	broad.mit.edu	37	5	101627081	101627081	+	Silent	SNP	G	G	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr5:101627081G>A	ENST00000310954.6	-	2	871	c.585C>T	c.(583-585)ttC>ttT	p.F195F		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)		ATTCTCCACTGAAAAATTGTG	0.358																																						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.(583-585)ttC>ttT		solute carrier organic anion transporter family, member 4C1							74.0	74.0	74.0					5																	101627081		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.chr5:101627081G>A	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.585C>T	5.37:g.101627081G>A							p.F195F	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	2	871	-		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)	195						Silent	SNP	ENST00000310954.6	37	c.585C>T	CCDS34205.1																																																																																				0.358	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		9	54	0	0	0	1	0	9	54				
MYH10	4628	broad.mit.edu	37	17	8438760	8438760	+	Silent	SNP	C	C	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr17:8438760C>T	ENST00000269243.4	-	15	1947	c.1809G>A	c.(1807-1809)gtG>gtA	p.V603V	MYH10_ENST00000396239.1_Silent_p.V603V|MYH10_ENST00000379980.4_Silent_p.V619V|MYH10_ENST00000360416.3_Silent_p.V613V	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	603	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						AAAGGGTGGCCACGTTGTCAT	0.458																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(1837-1839)gtG>gtA		myosin, heavy chain 10, non-muscle							107.0	97.0	100.0					17																	8438760		2203	4300	6503	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.chr17:8438760C>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.1809G>A	17.37:g.8438760C>T						MYH10_ENST00000269243.4_Silent_p.V603V|MYH10_ENST00000396239.1_Silent_p.V603V|MYH10_ENST00000379980.4_Silent_p.V619V	p.V613V	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			16	1977	-			603			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	ENST00000269243.4	37	c.1839G>A	CCDS11144.1																																																																																				0.458	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			14	55	0	0	0	1	0	14	55				
THEMIS2	9473	broad.mit.edu	37	1	28211938	28211938	+	Missense_Mutation	SNP	G	G	A	rs147739833		TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr1:28211938G>A	ENST00000373921.3	+	5	1856	c.1852G>A	c.(1852-1854)Gct>Act	p.A618T	THEMIS2_ENST00000492877.1_3'UTR|THEMIS2_ENST00000373925.1_Missense_Mutation_p.R260H|THEMIS2_ENST00000328928.7_Missense_Mutation_p.A489T|THEMIS2_ENST00000373927.3_Missense_Mutation_p.R123H	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	618					cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CCACAGGCCCGCTAAGCCCCA	0.592																																						ENST00000373921.3																			0											c.(1852-1854)Gct>Act		thymocyte selection associated family member 2		G	HIS/ARG,THR/ALA,HIS/ARG	0,4406		0,0,2203	47.0	44.0	45.0		368,1852,779	-4.6	0.0	1	dbSNP_134	45	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	C1orf38	NM_001039477.1,NM_001105556.1,NM_004848.2	29,58,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	123/124,618/644,260/261	28211938	1,13005	2203	4300	6503	SO:0001583	missense	9473							g.chr1:28211938G>A	AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.1852G>A	1.37:g.28211938G>A	ENSP00000363031:p.Ala618Thr					THEMIS2_ENST00000492877.1_3'UTR|THEMIS2_ENST00000373925.1_Missense_Mutation_p.R260H|THEMIS2_ENST00000373927.3_Missense_Mutation_p.R123H|THEMIS2_ENST00000328928.7_Missense_Mutation_p.A489T	p.A618T	NM_001105556.1	NP_001099026.1					5	1856	+								A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP	ENST00000373921.3	37	c.1852G>A	CCDS41290.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.87|11.87	1.768321|1.768321	0.31320|0.31320	0.0|0.0	1.16E-4|1.16E-4	ENSG00000130775|ENSG00000130775	ENST00000328928;ENST00000373921|ENST00000373925;ENST00000373927	T;T|.	0.22743|.	1.94;1.94|.	3.06|3.06	-4.6|-4.6	0.03390|0.03390	.|.	2.297160|.	0.02125|.	N|.	0.055942|.	T|T	0.26304|0.26304	0.0642|0.0642	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B;B|B;B	0.23735|0.02656	0.017;0.09;0.002|0.0;0.0	B;B;B|B;B	0.13407|0.01281	0.004;0.009;0.001|0.0;0.0	T|T	0.29458|0.29458	-1.0011|-1.0011	9|7	0.35671|0.87932	T|D	0.21|0	0.3115|0.3115	5.2208|5.2208	0.15368|0.15368	0.292:0.0:0.5271:0.1809|0.292:0.0:0.5271:0.1809	.|.	489;422;618|123;260	Q5TEJ8-5;Q5TEJ8-6;Q5TEJ8|Q5TEJ8-4;Q5TEJ8-2	.;.;THMS2_HUMAN|.;.	T|H	489;618|260;123	ENSP00000329862:A489T;ENSP00000363031:A618T|.	ENSP00000329862:A489T|ENSP00000363035:R260H	A|R	+|+	1|2	0|0	C1orf38|C1orf38	28084525|28084525	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.042000|0.042000	0.13949|0.13949	-0.936000|-0.936000	0.03723|0.03723	-0.474000|-0.474000	0.04947|0.04947	GCT|CGC		0.592	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1	NM_004848		7	26	0	0	0	1	0	7	26				
DNAH5	1767	broad.mit.edu	37	5	13708257	13708257	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr5:13708257G>T	ENST00000265104.4	-	76	13417	c.13313C>A	c.(13312-13314)gCt>gAt	p.A4438D		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4438					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)					AGGGATTCTAGCATCAAACAT	0.443									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.(13312-13314)gCt>gAt		dynein, axonemal, heavy chain 5							212.0	191.0	198.0					5																	13708257		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.chr5:13708257G>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.13313C>A	5.37:g.13708257G>T	ENSP00000265104:p.Ala4438Asp						p.A4438D	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			76	13417	-	Lung NSC(4;0.00476)		4438					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.13313C>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270218	0.80469	.	.	ENSG00000039139	ENST00000265104	T	0.07216	3.21	5.08	4.21	0.49690	Dynein heavy chain (1);	0.115611	0.56097	D	0.000024	T	0.20981	0.0505	L	0.54965	1.715	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00706	-1.1601	10	0.36615	T	0.2	.	10.3282	0.43807	0.0772:0.1451:0.7778:0.0	.	4438	Q8TE73	DYH5_HUMAN	D	4438	ENSP00000265104:A4438D	ENSP00000265104:A4438D	A	-	2	0	DNAH5	13761257	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.594000	0.82698	1.272000	0.44329	0.655000	0.94253	GCT		0.443	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		60	148	1	0	8.72158e-25	1	9.97567e-25	60	148				
RIC1	57589	broad.mit.edu	37	9	5762633	5762633	+	Silent	SNP	C	C	T	rs139982016	byFrequency	TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr9:5762633C>T	ENST00000414202.2	+	18	2276	c.2085C>T	c.(2083-2085)gaC>gaT	p.D695D	KIAA1432_ENST00000381532.2_Silent_p.D616D|KIAA1432_ENST00000251879.6_Silent_p.D695D|KIAA1432_ENST00000418622.3_Silent_p.D616D|KIAA1432_ENST00000449720.2_Silent_p.D579D	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)		GGGAGAAGGACAGTAACCCTA	0.433													C|||	12	0.00239617	0.0	0.0	5008	,	,		20426	0.0119		0.0	False		,,,				2504	0.0					ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(2083-2085)gaC>gaT		KIAA1432							100.0	89.0	93.0					9																	5762633		2203	4300	6503	SO:0001819	synonymous_variant	57589					integral to membrane		g.chr9:5762633C>T																												ENST00000414202.2:c.2085C>T	9.37:g.5762633C>T						KIAA1432_ENST00000449720.2_Silent_p.D579D|KIAA1432_ENST00000418622.3_Silent_p.D616D|KIAA1432_ENST00000251879.6_Silent_p.D695D|KIAA1432_ENST00000381532.2_Silent_p.D616D	p.D695D	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)	18	2276	+		Acute lymphoblastic leukemia(23;0.154)	695						Silent	SNP	ENST00000414202.2	37	c.2085C>T	CCDS34982.2	6	0.0027472527472527475	0	0.0	0	0.0	6	0.01048951048951049	0	0.0	C	6.418	0.445270	0.12164	.	.	ENSG00000107036	ENST00000545641	.	.	.	5.92	4.09	0.47781	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.4064	2.8362	0.05516	0.1213:0.5328:0.1394:0.2065	.	.	.	.	X	587	.	.	Q	+	1	0	KIAA1432	5752633	0.882000	0.30256	0.997000	0.53966	0.996000	0.88848	-0.062000	0.11674	0.838000	0.34948	0.561000	0.74099	CAG		0.433	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			8	47	0	0	0	1	0	8	47				
ZNF273	10793	broad.mit.edu	37	7	64388278	64388278	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr7:64388278C>T	ENST00000476120.1	+	4	643	c.572C>T	c.(571-573)tCa>tTa	p.S191L	ZNF273_ENST00000319636.5_Missense_Mutation_p.S126L|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	191					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(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CATAAATTCTCAAATTCAAAT	0.308																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)	ENST00000476120.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(571-573)tCa>tTa		zinc finger protein 273							44.0	48.0	47.0					7																	64388278		2199	4287	6486	SO:0001583	missense	10793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64388278C>T	X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"""Zinc fingers, C2H2-type"", ""-"""	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.572C>T	7.37:g.64388278C>T	ENSP00000418719:p.Ser191Leu					ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.S126L	p.S191L	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN			4	643	+		Lung NSC(55;0.0295)|all_lung(88;0.0691)	191					B3KQZ5|Q6P3V4	Missense_Mutation	SNP	ENST00000476120.1	37	c.572C>T	CCDS5528.2	.	.	.	.	.	.	.	.	.	.	.	4.638	0.118538	0.08881	.	.	ENSG00000198039	ENST00000476120;ENST00000319636	T;T	0.17854	2.25;2.25	1.16	1.16	0.20824	.	.	.	.	.	T	0.15782	0.0380	L	0.49350	1.555	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.24083	-1.0170	9	0.59425	D	0.04	.	7.3527	0.26700	0.0:1.0:0.0:0.0	.	191	Q14593	ZN273_HUMAN	L	191;126	ENSP00000418719:S191L;ENSP00000324518:S126L	ENSP00000324518:S126L	S	+	2	0	ZNF273	64025713	0.000000	0.05858	0.036000	0.18154	0.036000	0.12997	0.261000	0.18442	0.202000	0.20498	0.205000	0.17691	TCA		0.308	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313502.1			15	43	0	0	0	1	0	15	43				
ASXL1	171023	broad.mit.edu	37	20	31022592	31022592	+	Nonsense_Mutation	SNP	C	C	T	rs373221034		TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr20:31022592C>T	ENST00000375687.4	+	13	2501	c.2077C>T	c.(2077-2079)Cga>Tga	p.R693*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.R688*	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	693					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)	p.R693*(7)		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						AGATCTACAGCGAACACAACT	0.592			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		7	Substitution - Nonsense(7)	p.R693*(7)	haematopoietic_and_lymphoid_tissue(7)	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.(2077-2079)Cga>Tga		additional sex combs like 1 (Drosophila)		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	51.0	45.0	47.0		2077	5.2	1.0	20		47	0,8600		0,0,4300	no	stop-gained	ASXL1	NM_015338.5		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		693/1542	31022592	1,13005	2203	4300	6503	SO:0001587	stop_gained	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31022592C>T	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.2077C>T	20.37:g.31022592C>T	ENSP00000364839:p.Arg693*					ASXL1_ENST00000306058.5_Nonsense_Mutation_p.R688*	p.R693*	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	2501	+			693					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Nonsense_Mutation	SNP	ENST00000375687.4	37	c.2077C>T	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	C	42	9.378362	0.99153	2.27E-4	0.0	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	.	.	.	5.22	5.22	0.72569	.	0.298911	0.31834	N	0.006992	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3403	19.3627	0.94446	0.0:1.0:0.0:0.0	.	.	.	.	X	693;693;693;614;688	.	ENSP00000305119:R688X	R	+	1	2	ASXL1	30486253	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.216000	0.51176	2.894000	0.99253	0.655000	0.94253	CGA		0.592	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		5	19	0	0	0	1	0	5	19				
TYW1B	441250	broad.mit.edu	37	7	72081809	72081809	+	RNA	SNP	T	T	C	rs201876441	byFrequency	TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr7:72081809T>C	ENST00000435769.2	-	0	1756				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										GAACTTTCTCTGCAGTAGGTA	0.498																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							195.0	152.0	165.0					7																	72081809		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72081809T>C	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72081809T>C										Q6NUM6	TYW1B_HUMAN			0	1246	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.498	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		5	60	0	0	0	1	0	5	60				
SEL1L2	80343	broad.mit.edu	37	20	13846130	13846130	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr20:13846130A>G	ENST00000284951.5	-	16	1509	c.1435T>C	c.(1435-1437)Tgg>Cgg	p.W479R	SEL1L2_ENST00000486903.1_Intron|SEL1L2_ENST00000378072.5_Intron			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	479						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TTCTCAGCCCAGTGGCCTAGT	0.433																																						ENST00000284951.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(1435-1437)Tgg>Cgg		sel-1 suppressor of lin-12-like 2 (C. elegans)							80.0	76.0	77.0					20																	13846130		1897	4109	6006	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13846130A>G	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1435T>C	20.37:g.13846130A>G	ENSP00000284951:p.Trp479Arg					SEL1L2_ENST00000378072.5_Intron|SEL1L2_ENST00000486903.1_Intron	p.W479R			Q5TEA6	SE1L2_HUMAN			16	1509	-			479					B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.1435T>C		.	.	.	.	.	.	.	.	.	.	A	17.36	3.368790	0.61624	.	.	ENSG00000101251	ENST00000284951	T	0.49432	0.78	5.88	5.88	0.94601	.	0.000000	0.52532	D	0.000073	T	0.69744	0.3145	M	0.87827	2.91	0.58432	D	0.999999	D	0.76494	0.999	D	0.85130	0.997	T	0.69907	-0.5018	10	0.13108	T	0.6	-3.6157	14.2535	0.66035	1.0:0.0:0.0:0.0	.	479	Q5TEA6	SE1L2_HUMAN	R	479	ENSP00000284951:W479R	ENSP00000284951:W479R	W	-	1	0	SEL1L2	13794130	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.294000	0.89934	2.239000	0.73571	0.533000	0.62120	TGG		0.433	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		17	48	0	0	0	1	0	17	48				
SSX3	10214	broad.mit.edu	37	X	48208993	48208993	+	Intron	SNP	A	A	G			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chrX:48208993A>G	ENST00000298396.2	-	6	519				SSX3_ENST00000376893.3_Missense_Mutation_p.S166P|SSX3_ENST00000376895.1_Intron	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(1)|lung(9)	13						agtggtctggaaccgaacctg	0.413																																					Colon(37;227 826 19399 40970 48007)	ENST00000376893.3																			0				endometrium(3)|large_intestine(1)|lung(9)	13						c.(496-498)Tcc>Ccc		synovial sarcoma, X breakpoint 3							87.0	73.0	78.0					X																	48208993		2203	4300	6503	SO:0001627	intron_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48208993A>G	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.466+428T>C	X.37:g.48208993A>G						SSX3_ENST00000298396.2_Intron|SSX3_ENST00000376895.1_Intron	p.S166P			Q99909	SSX3_HUMAN			7	589	-			0					O60223|Q5JQZ3|Q9BRW7	Missense_Mutation	SNP	ENST00000298396.2	37	c.496T>C	CCDS14291.1	.	.	.	.	.	.	.	.	.	.	a	3.566	-0.088661	0.07097	.	.	ENSG00000165584	ENST00000376893	T	0.09817	2.94	0.109	0.109	0.14578	.	.	.	.	.	T	0.06096	0.0158	.	.	.	0.09310	N	1	P	0.41041	0.736	B	0.29440	0.102	T	0.31194	-0.9952	7	0.62326	D	0.03	.	.	.	.	.	166	Q9BRW7	.	P	166	ENSP00000366090:S166P	ENSP00000366090:S166P	S	-	1	0	SSX3	48093937	0.384000	0.25164	0.030000	0.17652	0.030000	0.12068	0.501000	0.22578	0.144000	0.18951	0.143000	0.16000	TCC		0.413	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		11	40	0	0	0	1	0	11	40				
SPCS1	28972	broad.mit.edu	37	3	52740832	52740832	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr3:52740832C>A	ENST00000602728.1	+	3	289	c.120C>A	c.(118-120)taC>taA	p.Y40*	SPCS1_ENST00000423431.1_Nonsense_Mutation_p.Y18*|GLT8D1_ENST00000491606.1_5'Flank|GLT8D1_ENST00000478968.2_5'Flank|SPCS1_ENST00000233025.7_Nonsense_Mutation_p.Y107*|GLT8D1_ENST00000407584.3_5'Flank|GLT8D1_ENST00000266014.5_5'Flank			Q9Y6A9	SPCS1_HUMAN	signal peptidase complex subunit 1 homolog (S. cerevisiae)	40					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)		TCTACGGGTACGTGGCTGAAC	0.428																																						ENST00000233025.7																			0				kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6						c.(319-321)taC>taA		signal peptidase complex subunit 1 homolog (S. cerevisiae)							305.0	303.0	304.0					3																	52740832		2203	4300	6503	SO:0001587	stop_gained	28972				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to endoplasmic reticulum membrane|microsome|signal peptidase complex	peptidase activity	g.chr3:52740832C>A	AF092138	CCDS33769.2	3p21.31	2005-01-05			ENSG00000114902	ENSG00000114902			23401	protein-coding gene	gene with protein product		610358				8632014	Standard	NM_014041		Approved	SPC12, HSPC033, YJR010C-A, SPC1	uc011bei.2	Q9Y6A9	OTTHUMG00000154930	ENST00000602728.1:c.120C>A	3.37:g.52740832C>A	ENSP00000473265:p.Tyr40*					SPCS1_ENST00000602728.1_Nonsense_Mutation_p.Y40*|SPCS1_ENST00000423431.1_Nonsense_Mutation_p.Y18*	p.Y107*	NM_014041.3	NP_054760.3	Q9Y6A9	SPCS1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)	3	731	+			107					B3KNF8|Q9BVW1	Nonsense_Mutation	SNP	ENST00000602728.1	37	c.321C>A		.	.	.	.	.	.	.	.	.	.	C	38	7.012448	0.98002	.	.	ENSG00000114902	ENST00000423431;ENST00000233025	.	.	.	5.5	3.29	0.37713	.	0.122781	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.1998	11.7424	0.51801	0.0:0.8136:0.0:0.1864	.	.	.	.	X	18;107	.	ENSP00000233025:Y107X	Y	+	3	2	SPCS1	52715872	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.612000	0.36889	1.420000	0.47138	0.650000	0.86243	TAC		0.428	SPCS1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467759.1	NM_014041		47	92	1	0	6.31075e-24	1	7.17131e-24	47	92				
GPR35	2859	broad.mit.edu	37	2	241570030	241570030	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr2:241570030G>T	ENST00000319838.5	+	6	1603	c.661G>T	c.(661-663)Gcc>Tcc	p.A221S	GPR35_ENST00000438013.2_Missense_Mutation_p.A252S|GPR35_ENST00000407714.1_Missense_Mutation_p.A221S|GPR35_ENST00000430267.1_Missense_Mutation_p.A221S|GPR35_ENST00000403859.1_Missense_Mutation_p.A221S	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	221					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		CATGGTCTGGGCCAACCTCCT	0.682																																						ENST00000319838.5																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17						c.(661-663)Gcc>Tcc		G protein-coupled receptor 35							65.0	56.0	59.0					2																	241570030		2203	4299	6502	SO:0001583	missense	2859					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:241570030G>T		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"""GPCR / Class A : Orphans"""	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.661G>T	2.37:g.241570030G>T	ENSP00000322731:p.Ala221Ser					GPR35_ENST00000438013.2_Missense_Mutation_p.A252S|GPR35_ENST00000430267.1_Missense_Mutation_p.A221S|GPR35_ENST00000407714.1_Missense_Mutation_p.A221S|GPR35_ENST00000403859.1_Missense_Mutation_p.A221S	p.A221S	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)	6	1603	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	221					J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	37	c.661G>T	CCDS2541.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460796	0.26248	.	.	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09	3.55	2.65	0.31530	GPCR, rhodopsin-like superfamily (1);	0.193080	0.44285	U	0.000475	T	0.50752	0.1634	M	0.61703	1.905	0.09310	N	1	D;D;D	0.59357	0.985;0.985;0.985	D;D;D	0.65874	0.918;0.939;0.939	T	0.31475	-0.9942	10	0.42905	T	0.14	-25.7214	3.8632	0.09005	0.1283:0.0:0.6309:0.2408	.	306;252;221	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	S	221;221;252;221;221	ENSP00000322731:A221S;ENSP00000385140:A221S;ENSP00000415890:A252S;ENSP00000384263:A221S;ENSP00000411788:A221S	ENSP00000322731:A221S	A	+	1	0	GPR35	241218703	0.010000	0.17322	1.000000	0.80357	0.077000	0.17291	1.487000	0.35540	2.004000	0.58718	0.305000	0.20034	GCC		0.682	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382		5	61	1	0	0.014758	1	0.0149286	5	61				
PCLO	27445	broad.mit.edu	37	7	82764134	82764134	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr7:82764134C>T	ENST00000333891.9	-	3	3069	c.2732G>A	c.(2731-2733)aGt>aAt	p.S911N	PCLO_ENST00000423517.2_Missense_Mutation_p.S911N	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						ATCAGTAATACTTCCCAGATT	0.537																																						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.(2731-2733)aGt>aAt		piccolo presynaptic cytomatrix protein							109.0	108.0	108.0					7																	82764134		1930	4140	6070	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.chr7:82764134C>T	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.2732G>A	7.37:g.82764134C>T	ENSP00000334319:p.Ser911Asn					PCLO_ENST00000333891.8_Missense_Mutation_p.S911N	p.S911N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			3	3069	-			857			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.2732G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.755502	0.31046	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18338	2.23;2.22	5.97	5.09	0.68999	.	.	.	.	.	T	0.19967	0.0480	L	0.50333	1.59	0.80722	D	1	B;B	0.20671	0.027;0.047	B;B	0.19391	0.025;0.025	T	0.01988	-1.1234	9	0.87932	D	0	.	15.1752	0.72903	0.0:0.9326:0.0:0.0674	.	911;911	Q9Y6V0-5;Q9Y6V0-6	.;.	N	857;911;911	ENSP00000334319:S911N;ENSP00000388393:S911N	ENSP00000334319:S911N	S	-	2	0	PCLO	82602070	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	4.141000	0.58038	1.534000	0.49203	0.655000	0.94253	AGT		0.537	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		30	101	0	0	0	1	0	30	101				
ALDH3A2	224	broad.mit.edu	37	17	19554870	19554870	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr17:19554870A>G	ENST00000176643.6	+	2	610	c.164A>G	c.(163-165)aAt>aGt	p.N55S	ALDH3A2_ENST00000395575.2_Missense_Mutation_p.N55S|Y_RNA_ENST00000578640.1_RNA|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.N55S|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.N55S|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.N55S			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	55					cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)					AGTGAATTCAATGTGTACAGT	0.398																																						ENST00000176643.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13						c.(163-165)aAt>aGt		aldehyde dehydrogenase 3 family, member A2	NADH(DB00157)						138.0	137.0	137.0					17																	19554870		2203	4300	6503	SO:0001583	missense	224				cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity	g.chr17:19554870A>G	L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	1.2.1.3	"""Aldehyde dehydrogenases"""	403	protein-coding gene	gene with protein product	"""fatty aldehyde dehydrogenase"""	609523		SLS, ALDH10		7894487	Standard	NM_000382		Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000176643.6:c.164A>G	17.37:g.19554870A>G	ENSP00000176643:p.Asn55Ser					ALDH3A2_ENST00000395575.2_Missense_Mutation_p.N55S|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.N55S|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.N55S|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.N55S	p.N55S			P51648	AL3A2_HUMAN			2	610	+	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)		55					Q6I9T3|Q93011|Q96J37	Missense_Mutation	SNP	ENST00000176643.6	37	c.164A>G	CCDS11210.1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.733107	0.30684	.	.	ENSG00000072210	ENST00000446398;ENST00000176643;ENST00000395575;ENST00000339618	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	5.33	5.33	0.75918	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.327928	0.37178	N	0.002216	T	0.60025	0.2237	L	0.29908	0.895	0.80722	D	1	B;B	0.19817	0.039;0.011	B;B	0.12156	0.007;0.004	T	0.59316	-0.7477	10	0.54805	T	0.06	-30.8207	6.7367	0.23413	0.767:0.1542:0.0788:0.0	.	55;55	P51648;P51648-2	AL3A2_HUMAN;.	S	55	ENSP00000395845:N55S;ENSP00000176643:N55S;ENSP00000378942:N55S;ENSP00000345774:N55S	ENSP00000176643:N55S	N	+	2	0	ALDH3A2	19495462	0.933000	0.31639	0.933000	0.37362	0.831000	0.47069	2.373000	0.44266	2.241000	0.73720	0.533000	0.62120	AAT		0.398	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132268.1			54	47	0	0	0	1	0	54	47				
BACH1	571	broad.mit.edu	37	21	30723990	30723990	+	RNA	SNP	C	C	G			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr21:30723990C>G	ENST00000504298.1	+	0	36					NR_027655.1				BACH1 intronic transcript 1 (non-protein coding)																		AAGAAGTGTTCCATACCATTC	0.433																																						ENST00000504298.1																			0																				108.0	96.0	100.0					21																	30723990		2203	4300	6503			571							g.chr21:30723990C>G	AF317902		21q21.3	2012-10-12			ENSG00000248476	ENSG00000248476		"""Long non-coding RNAs"""	40006	non-coding RNA	RNA, long non-coding							Standard			Approved				OTTHUMG00000078881		21.37:g.30723990C>G								NR_027655.1						0	36	+									RNA	SNP	ENST00000504298.1	37																																																																																						0.433	BACH1-IT1-001	KNOWN	basic	sense_intronic	sense_intronic	OTTHUMT00000171988.1			14	53	0	0	0	1	0	14	53				
SPICE1	152185	broad.mit.edu	37	3	113172487	113172487	+	Silent	SNP	C	C	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr3:113172487C>T	ENST00000295872.4	-	14	2227	c.1968G>A	c.(1966-1968)ctG>ctA	p.L656L		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	656					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						CATTTGTTCTCAGCTGCTGCC	0.428																																						ENST00000295872.4																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(1966-1968)ctG>ctA		spindle and centriole associated protein 1							147.0	150.0	149.0					3																	113172487		2203	4300	6503	SO:0001819	synonymous_variant	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113172487C>T	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.1968G>A	3.37:g.113172487C>T							p.L656L	NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN			14	2227	-			656					D3DN72|Q8WUX6	Silent	SNP	ENST00000295872.4	37	c.1968G>A	CCDS2973.1																																																																																				0.428	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		28	91	0	0	0	1	0	28	91				
SIRPB2	284759	broad.mit.edu	37	20	1457910	1457910	+	Missense_Mutation	SNP	C	C	A	rs6135048	byFrequency	TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr20:1457910C>A	ENST00000537284.1	-	5	854	c.518G>T	c.(517-519)gGa>gTa	p.G173V	SIRPB2_ENST00000444444.2_Intron|SIRPB2_ENST00000359801.3_Intron|SIRPB2_ENST00000608747.1_5'Flank			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	0	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)				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTGCTCCCTTCCCATGACCAA	0.552													C|||	1533	0.30611	0.0651	0.2363	5008	,	,		20519	0.756		0.1382	False		,,,				2504	0.3906					ENST00000537284.1																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(517-519)gGa>gTa		signal-regulatory protein beta 2																																				SO:0001583	missense	284759					integral to membrane		g.chr20:1457910C>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	ENST00000537284.1:c.518G>T	20.37:g.1457910C>A	ENSP00000445632:p.Gly173Val					SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000359801.3_Intron|SIRPB2_ENST00000381630.1_3'UTR	p.G173V			Q5JXA9	SIRB2_HUMAN			5	854	-			0			Ig-like V-type 2.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000537284.1	37	c.518G>T		635	0.2907509157509158	39	0.07926829268292683	78	0.2154696132596685	419	0.7325174825174825	99	0.13060686015831136	C	5.725	0.318192	0.10845	.	.	ENSG00000196209	ENST00000537284	T	0.03607	3.87	3.25	1.25	0.21368	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	D	0.57257	0.979	P	0.51615	0.675	T	0.09143	-1.0688	7	0.66056	D	0.02	.	4.5954	0.12327	0.0:0.6447:0.2275:0.1278	rs6135048;rs8121106;rs59614180	173	F5H204	.	V	173	ENSP00000445632:G173V	ENSP00000445632:G173V	G	-	2	0	SIRPB2	1405910	0.009000	0.17119	0.001000	0.08648	0.133000	0.20885	0.660000	0.25009	0.390000	0.25115	0.561000	0.74099	GGA		0.552	SIRPB2-201	KNOWN	basic	protein_coding	protein_coding		NM_178459		4	57	1	0	0.000602214	1	0.000616301	4	57				
LEPR	3953	broad.mit.edu	37	1	66102125	66102125	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr1:66102125G>T	ENST00000349533.6	+	20	3110	c.2925G>T	c.(2923-2925)gaG>gaT	p.E975D	LEPR_ENST00000406510.3_Missense_Mutation_p.E42D	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TAACCTATGAGGACGAAAGCC	0.418																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(2923-2925)gaG>gaT		leptin receptor							106.0	95.0	99.0					1																	66102125		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66102125G>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2925G>T	1.37:g.66102125G>T	ENSP00000330393:p.Glu975Asp					LEPR_ENST00000406510.3_Missense_Mutation_p.E42D	p.E975D	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	20	3110	+			975					Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.2925G>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	9.232	1.036056	0.19590	.	.	ENSG00000116678	ENST00000349533;ENST00000406510	T	0.54479	0.57	5.93	4.07	0.47477	.	0.590344	0.18915	N	0.127640	T	0.27697	0.0681	M	0.76838	2.35	0.26472	N	0.975256	B	0.32071	0.355	B	0.24974	0.057	T	0.13791	-1.0496	10	0.26408	T	0.33	-17.8298	7.0555	0.25097	0.3659:0.0:0.6341:0.0	.	975	P48357	LEPR_HUMAN	D	975;42	ENSP00000330393:E975D	ENSP00000330393:E975D	E	+	3	2	LEPR	65874713	0.934000	0.31675	0.968000	0.41197	0.126000	0.20510	0.836000	0.27545	0.852000	0.35287	-0.145000	0.13849	GAG		0.418	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		8	66	1	0	5.18039e-06	1	5.39624e-06	8	66				
MED12	9968	broad.mit.edu	37	X	70351428	70351428	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chrX:70351428C>A	ENST00000374080.3	+	29	4108	c.4076C>A	c.(4075-4077)tCt>tAt	p.S1359Y	MED12_ENST00000374102.1_Missense_Mutation_p.S1359Y|MED12_ENST00000333646.6_Missense_Mutation_p.S1359Y			Q93074	MED12_HUMAN	mediator complex subunit 12	1359					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)					ATGCGCCAGTCTTCCTTGGAG	0.552			"""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.(4075-4077)tCt>tAt		mediator complex subunit 12							131.0	125.0	127.0					X																	70351428		2097	4194	6291	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:70351428C>A	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.4076C>A	X.37:g.70351428C>A	ENSP00000363193:p.Ser1359Tyr					MED12_ENST00000374102.1_Missense_Mutation_p.S1359Y|MED12_ENST00000478889.1_Intron|MED12_ENST00000374080.3_Missense_Mutation_p.S1359Y	p.S1359Y	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			29	4275	+	Renal(35;0.156)		1359					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.4076C>A	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074439	0.76415	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	D;D;D;D;T	0.84873	-1.91;-1.91;-1.91;-1.91;1.56	3.62	3.62	0.41486	.	0.000000	0.85682	D	0.000000	D	0.91549	0.7331	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.987;0.988;0.996;0.991	D	0.92951	0.6380	10	0.87932	D	0	-13.3242	15.6611	0.77188	0.0:1.0:0.0:0.0	.	1359;1206;1359;1359	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	Y	1359;1359;1359;1359;1327;104	ENSP00000333125:S1359Y;ENSP00000363215:S1359Y;ENSP00000363193:S1359Y;ENSP00000414203:S1327Y;ENSP00000408388:S104Y	ENSP00000333125:S1359Y	S	+	2	0	MED12	70268153	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	7.418000	0.80167	2.065000	0.61736	0.600000	0.82982	TCT		0.552	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		18	48	1	0	2.35188e-11	1	2.57237e-11	18	48				
ADCY8	114	broad.mit.edu	37	8	132051983	132051983	+	Silent	SNP	T	T	G	rs568398874	byFrequency	TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr8:132051983T>G	ENST00000286355.5	-	1	2689	c.597A>C	c.(595-597)ctA>ctC	p.L199L	ADCY8_ENST00000377928.3_Silent_p.L199L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	199					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 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)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGCTCAAGTGTAGGACCAAGA	0.587										HNSCC(32;0.087)			T|||	4	0.000798722	0.0	0.0	5008	,	,		18940	0.004		0.0	False		,,,				2504	0.0					ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(595-597)ctA>ctC		adenylate cyclase 8 (brain)							87.0	89.0	88.0					8																	132051983		2203	4300	6503	SO:0001819	synonymous_variant	114				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	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:132051983T>G	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.597A>C	8.37:g.132051983T>G		HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Silent_p.L199L	p.L199L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		1	2689	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		199						Silent	SNP	ENST00000286355.5	37	c.597A>C	CCDS6363.1																																																																																				0.587	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			4	56	0	0	0	1	0	4	56				
NAP1L3	4675	broad.mit.edu	37	X	92927424	92927424	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chrX:92927424C>G	ENST00000373079.3	-	1	1143	c.880G>C	c.(880-882)Gat>Cat	p.D294H	FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000332647.4_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.D287H|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	294					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						CTTTTAAGATCTACACTGTCC	0.438																																						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.(880-882)Gat>Cat		nucleosome assembly protein 1-like 3							82.0	78.0	79.0					X																	92927424		2203	4300	6503	SO:0001583	missense	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92927424C>G		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.880G>C	X.37:g.92927424C>G	ENSP00000362171:p.Asp294His					NAP1L3_ENST00000475430.1_5'UTR	p.D294H	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN			1	1143	-			294					B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	c.880G>C	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.787383	0.00628	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.44083	0.93	2.84	1.49	0.22878	.	0.633028	0.13134	N	0.411181	T	0.22859	0.0552	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.18304	-1.0341	10	0.59425	D	0.04	-1.2534	4.3934	0.11351	0.0:0.3244:0.0:0.6756	.	294	Q99457	NP1L3_HUMAN	H	294;287	ENSP00000362171:D294H	ENSP00000362171:D294H	D	-	1	0	NAP1L3	92814080	0.457000	0.25752	0.044000	0.18714	0.011000	0.07611	0.499000	0.22546	0.353000	0.24079	-0.513000	0.04457	GAT		0.438	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		25	85	0	0	0	1	0	25	85				
ATP2B4	493	broad.mit.edu	37	1	203652501	203652501	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr1:203652501T>A	ENST00000357681.5	+	2	1291	c.168T>A	c.(166-168)agT>agA	p.S56R	ATP2B4_ENST00000341360.2_Missense_Mutation_p.S56R|ATP2B4_ENST00000367219.3_Missense_Mutation_p.S56R|ATP2B4_ENST00000367218.3_Missense_Mutation_p.S56R|ATP2B4_ENST00000391954.2_Missense_Mutation_p.S56R	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	56					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)			ATCTCTGCAGTAGACTGAAAA	0.488																																						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.(166-168)agT>agA		ATPase, Ca++ transporting, plasma membrane 4							112.0	102.0	105.0					1																	203652501		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203652501T>A	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.168T>A	1.37:g.203652501T>A	ENSP00000350310:p.Ser56Arg					ATP2B4_ENST00000391954.2_Missense_Mutation_p.S56R|ATP2B4_ENST00000367218.3_Missense_Mutation_p.S56R|ATP2B4_ENST00000341360.2_Missense_Mutation_p.S56R|ATP2B4_ENST00000367219.3_Missense_Mutation_p.S56R	p.S56R	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	1291	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		56					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.168T>A	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	T	4.710	0.132044	0.08981	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	5.93	0.542	0.17174	ATPase, P-type cation-transporter, N-terminal (2);	0.617464	0.16253	N	0.222624	T	0.45418	0.1341	N	0.03154	-0.405	0.09310	N	1	B;B;B	0.28470	0.119;0.0;0.213	B;B;B	0.33846	0.171;0.003;0.051	T	0.46359	-0.9197	10	0.02654	T	1	-1.2918	1.3851	0.02238	0.1319:0.3132:0.1943:0.3605	.	56;56;56	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	R	56	ENSP00000350310:S56R;ENSP00000356187:S56R;ENSP00000356188:S56R;ENSP00000375816:S56R;ENSP00000340930:S56R	ENSP00000340930:S56R	S	+	3	2	ATP2B4	201919124	0.001000	0.12720	0.124000	0.21820	0.997000	0.91878	-0.408000	0.07169	0.069000	0.16605	0.533000	0.62120	AGT		0.488	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		26	86	0	0	0	1	0	26	86				
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, 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.H1047R(1387)|p.H1047L(194)|p.H1047P(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)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	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	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		1582	Substitution - Missense(1582)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(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.(3139-3141)cAt>cGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							99.0	89.0	92.0					3																	178952085		1912	4130	6042	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.chr3:178952085A>G		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.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	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)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			22	116	0	0	0	1	0	22	116				
NLGN3	54413	broad.mit.edu	37	X	70389690	70389690	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chrX:70389690G>A	ENST00000358741.3	+	8	2593	c.2290G>A	c.(2290-2292)Gca>Aca	p.A764T	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.A724T|NLGN3_ENST00000374051.3_Missense_Mutation_p.A744T	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	764					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)					GGAGGAGCTGGCAGCATTACA	0.687																																					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.(2230-2232)Gca>Aca		neuroligin 3							44.0	36.0	39.0					X																	70389690		2192	4285	6477	SO:0001583	missense	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:70389690G>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.2290G>A	X.37:g.70389690G>A	ENSP00000351591:p.Ala764Thr					NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.A724T|NLGN3_ENST00000358741.3_Missense_Mutation_p.A764T	p.A744T	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN			7	2552	+	Renal(35;0.156)		764					B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	c.2230G>A	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451333	0.26074	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000358741	T;T;T	0.64991	-0.13;-0.13;-0.13	5.19	5.19	0.71726	.	0.267534	0.43919	D	0.000502	T	0.44953	0.1318	N	0.19112	0.55	0.31437	N	0.672461	B;B;B	0.12013	0.001;0.005;0.001	B;B;B	0.22386	0.017;0.028;0.039	T	0.48864	-0.8997	10	0.52906	T	0.07	.	7.1221	0.25450	0.0949:0.2407:0.6643:0.0	.	724;764;744	D3DVV1;Q9NZ94;Q9NZ94-2	.;NLGN3_HUMAN;.	T	724;744;764	ENSP00000445298:A724T;ENSP00000363163:A744T;ENSP00000351591:A764T	ENSP00000351591:A764T	A	+	1	0	NLGN3	70306415	0.996000	0.38824	0.998000	0.56505	0.750000	0.42670	2.156000	0.42310	2.436000	0.82500	0.525000	0.51046	GCA		0.687	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		5	9	0	0	0	1	0	5	9				
GPC6	10082	broad.mit.edu	37	13	95055334	95055334	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr13:95055334G>C	ENST00000377047.4	+	9	2146	c.1531G>C	c.(1531-1533)Gag>Cag	p.E511Q		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	511					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|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)|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)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CACGGAGTTTGAGTTTGTCAC	0.567																																						ENST00000377047.4																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38						c.(1531-1533)Gag>Cag		glypican 6							153.0	159.0	157.0					13																	95055334		2203	4300	6503	SO:0001583	missense	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:95055334G>C	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.1531G>C	13.37:g.95055334G>C	ENSP00000366246:p.Glu511Gln						p.E511Q	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN			9	2146	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)	511					A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	37	c.1531G>C	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214906	0.79352	.	.	ENSG00000183098	ENST00000377047	T	0.49720	0.77	5.84	5.84	0.93424	.	0.157461	0.53938	D	0.000054	T	0.54532	0.1864	L	0.51422	1.61	0.39411	D	0.966758	B	0.26602	0.154	B	0.41236	0.351	T	0.47611	-0.9104	10	0.20519	T	0.43	.	20.1432	0.98067	0.0:0.0:1.0:0.0	.	511	Q9Y625	GPC6_HUMAN	Q	511	ENSP00000366246:E511Q	ENSP00000366246:E511Q	E	+	1	0	GPC6	93853335	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.216000	0.72212	2.769000	0.95229	0.561000	0.74099	GAG		0.567	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		40	49	0	0	0	1	0	40	49				
SLCO3A1	28232	broad.mit.edu	37	15	92706316	92706316	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr15:92706316A>G	ENST00000318445.6	+	10	2298	c.2084A>G	c.(2083-2085)tAt>tGt	p.Y695C	RP11-152L20.3_ENST00000561674.1_RNA|SLCO3A1_ENST00000555549.1_3'UTR|RP11-24J19.1_ENST00000557683.1_RNA|SLCO3A1_ENST00000424469.2_Intron	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	695					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	AAGTTTATCTATAACCTGGAA	0.468																																						ENST00000318445.6																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(2083-2085)tAt>tGt		solute carrier organic anion transporter family, member 3A1							97.0	106.0	103.0					15																	92706316		2198	4298	6496	SO:0001583	missense	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92706316A>G	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.2084A>G	15.37:g.92706316A>G	ENSP00000320634:p.Tyr695Cys					RP11-152L20.3_ENST00000561674.1_RNA|RP11-24J19.1_ENST00000557683.1_RNA|SLCO3A1_ENST00000424469.2_Intron|SLCO3A1_ENST00000555549.1_3'UTR	p.Y695C	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		10	2298	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		695					A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	c.2084A>G	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.330110	0.60743	.	.	ENSG00000176463	ENST00000318445;ENST00000555549	T	0.41065	1.01	5.32	5.32	0.75619	.	0.139062	0.49916	D	0.000135	T	0.36936	0.0985	N	0.08118	0	0.58432	D	0.999999	D	0.63046	0.992	P	0.54401	0.751	T	0.37384	-0.9708	10	0.39692	T	0.17	.	15.2896	0.73857	1.0:0.0:0.0:0.0	.	695	Q9UIG8	SO3A1_HUMAN	C	695;414	ENSP00000320634:Y695C	ENSP00000320634:Y695C	Y	+	2	0	SLCO3A1	90507320	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.850000	0.75420	2.006000	0.58801	0.533000	0.62120	TAT		0.468	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		25	67	0	0	0	1	0	25	67				
KRT20	54474	broad.mit.edu	37	17	39036112	39036112	+	Missense_Mutation	SNP	G	G	A	rs147567550		TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr17:39036112G>A	ENST00000167588.3	-	5	912	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	291	Coil 2.|Rod.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TGGGAGGTGCGTCTCAGCTCC	0.443																																						ENST00000167588.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14						c.(871-873)Cgc>Tgc		keratin 20		G	CYS/ARG	1,4405		0,1,2202	118.0	102.0	107.0		871	4.5	0.8	17	dbSNP_134	107	0,8600		0,0,4300	no	missense	KRT20	NM_019010.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	291/425	39036112	1,13005	2203	4300	6503	SO:0001583	missense	54474				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39036112G>A	BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.871C>T	17.37:g.39036112G>A	ENSP00000167588:p.Arg291Cys						p.R291C	NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN			5	912	-		Breast(137;0.000301)|Ovarian(249;0.15)	291			Coil 2.|Rod.		B2R6W7	Missense_Mutation	SNP	ENST00000167588.3	37	c.871C>T	CCDS11379.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482983	0.44147	2.27E-4	0.0	ENSG00000171431	ENST00000167588	D	0.90732	-2.72	5.5	4.52	0.55395	Filament (1);	0.553738	0.17828	N	0.160632	D	0.94460	0.8217	M	0.74389	2.26	0.40349	D	0.979113	D	0.89917	1.0	D	0.65773	0.938	D	0.94679	0.7863	10	0.66056	D	0.02	.	14.4043	0.67071	0.0:0.0:0.8511:0.1489	.	291	P35900	K1C20_HUMAN	C	291	ENSP00000167588:R291C	ENSP00000167588:R291C	R	-	1	0	KRT20	36289638	0.988000	0.35896	0.809000	0.32408	0.070000	0.16714	5.020000	0.64066	1.300000	0.44818	-0.188000	0.12872	CGC		0.443	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2			21	46	0	0	0	1	0	21	46				
TMEM218	219854	broad.mit.edu	37	11	124971137	124971137	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr11:124971137G>T	ENST00000279968.4	-	4	496	c.173C>A	c.(172-174)cCg>cAg	p.P58Q	TMEM218_ENST00000526175.1_Missense_Mutation_p.P58Q|TMEM218_ENST00000532156.1_Silent_p.P42P|TMEM218_ENST00000531262.1_5'UTR|TMEM218_ENST00000531909.1_Missense_Mutation_p.P58Q|TMEM218_ENST00000532407.1_Missense_Mutation_p.P58Q|TMEM218_ENST00000455225.1_Missense_Mutation_p.P58Q|TMEM218_ENST00000529583.1_Missense_Mutation_p.P58Q|TMEM218_ENST00000527271.1_Missense_Mutation_p.P58Q|TMEM218_ENST00000527766.1_Missense_Mutation_p.P58Q|TMEM218_ENST00000528724.1_Missense_Mutation_p.P84Q|TMEM218_ENST00000529609.1_Silent_p.P42P			A2RU14	TM218_HUMAN	transmembrane protein 218	58						integral component of membrane (GO:0016021)				breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						ACCAGCTCGCGGGAAAAGCAA	0.423																																						ENST00000455225.1																			0				breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						c.(172-174)cCg>cAg		transmembrane protein 218							72.0	62.0	66.0					11																	124971137		2201	4299	6500	SO:0001583	missense	219854					integral to membrane		g.chr11:124971137G>T		CCDS31715.1	11q24.2	2008-08-08			ENSG00000150433	ENSG00000150433			27344	protein-coding gene	gene with protein product							Standard	NM_001258238		Approved		uc031qeu.1	A2RU14		ENST00000279968.4:c.173C>A	11.37:g.124971137G>T	ENSP00000279968:p.Pro58Gln					TMEM218_ENST00000529583.1_Missense_Mutation_p.P58Q|TMEM218_ENST00000528724.1_Missense_Mutation_p.P84Q|TMEM218_ENST00000527271.1_Missense_Mutation_p.P58Q|TMEM218_ENST00000526175.1_Missense_Mutation_p.P58Q|TMEM218_ENST00000279968.4_Missense_Mutation_p.P58Q|TMEM218_ENST00000527766.1_Missense_Mutation_p.P58Q|TMEM218_ENST00000532407.1_Missense_Mutation_p.P58Q|TMEM218_ENST00000532156.1_Silent_p.P42P|TMEM218_ENST00000531909.1_Missense_Mutation_p.P58Q|TMEM218_ENST00000531262.1_5'UTR|TMEM218_ENST00000529609.1_Silent_p.P42P	p.P58Q			A2RU14	TM218_HUMAN			3	824	-			58					B7ZM48	Missense_Mutation	SNP	ENST00000279968.4	37	c.173C>A	CCDS31715.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083777	0.76642	.	.	ENSG00000150433	ENST00000455225;ENST00000531909;ENST00000528724;ENST00000532407;ENST00000279968;ENST00000526175;ENST00000527766;ENST00000529583;ENST00000527271;ENST00000524373;ENST00000533273	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.77935	0.4205	M	0.65498	2.005	0.52501	D	0.99995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.79878	-0.1617	9	0.87932	D	0	-19.3191	16.327	0.82987	0.0:0.0:1.0:0.0	.	58;58;84	E9PL96;A2RU14;E9PI23	.;TM218_HUMAN;.	Q	58;58;84;58;58;58;58;58;58;58;58	.	ENSP00000279968:P58Q	P	-	2	0	TMEM218	124476347	1.000000	0.71417	0.996000	0.52242	0.754000	0.42855	5.530000	0.67141	2.562000	0.86427	0.655000	0.94253	CCG		0.423	TMEM218-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386849.1	NM_001080546		12	19	1	0	4.36969e-10	1	4.74966e-10	12	19				
SYNE1	23345	broad.mit.edu	37	6	152651578	152651578	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr6:152651578G>T	ENST00000367255.5	-	78	14843	c.14242C>A	c.(14242-14244)Cag>Aag	p.Q4748K	SYNE1_ENST00000448038.1_Missense_Mutation_p.Q4677K|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q4495K|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q4748K|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q4677K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4748					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)		TTGTCTGGCTGCCAAGGCTGA	0.522										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.(14242-14244)Cag>Aag		spectrin repeat containing, nuclear envelope 1							90.0	94.0	93.0					6																	152651578		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.chr6:152651578G>T	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.14242C>A	6.37:g.152651578G>T	ENSP00000356224:p.Gln4748Lys	HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Missense_Mutation_p.Q4748K|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q4677K|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q4677K|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q4495K	p.Q4748K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	14843	-		Ovarian(120;0.0955)	4748					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.14242C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	8.719	0.913829	0.17907	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.84	2.82	0.32997	.	0.341989	0.25086	N	0.033258	T	0.14527	0.0351	L	0.46157	1.445	0.80722	D	1	B;B;B;B	0.24882	0.088;0.113;0.113;0.088	B;B;B;B	0.24006	0.05;0.033;0.033;0.046	T	0.14364	-1.0475	10	0.06099	T	0.92	.	6.4515	0.21906	0.0671:0.2452:0.561:0.1267	.	4748;4748;4748;4677	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	4748;4677;4748;4677;4495	ENSP00000356224:Q4748K;ENSP00000396024:Q4677K;ENSP00000265368:Q4748K;ENSP00000390975:Q4677K;ENSP00000341887:Q4495K	ENSP00000265368:Q4748K	Q	-	1	0	SYNE1	152693271	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.171000	0.42453	0.743000	0.32719	0.591000	0.81541	CAG		0.522	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		14	62	1	0	2.32078e-09	1	2.47645e-09	14	62				
BAG5	9529	broad.mit.edu	37	14	104026912	104026912	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr14:104026912C>T	ENST00000445922.2	-	2	836	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	BAG5_ENST00000299204.4_Missense_Mutation_p.R197Q|APOPT1_ENST00000556253.2_5'Flank|APOPT1_ENST00000409074.2_5'Flank|BAG5_ENST00000337322.4_Missense_Mutation_p.R238Q|APOPT1_ENST00000247618.4_5'Flank|RP11-894P9.2_ENST00000556332.1_RNA|RP11-73M18.2_ENST00000472726.2_5'Flank	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	197	BAG 3. {ECO:0000255|PROSITE- ProRule:PRU00369}.				negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			CAGGACCCCTCGGGCCTTGTT	0.532																																					NSCLC(171;1832 2055 18950 31566 41632)	ENST00000445922.2																			0				endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24						c.(589-591)cGa>cAa		BCL2-associated athanogene 5							143.0	133.0	137.0					14																	104026912		2203	4300	6503	SO:0001583	missense	9529				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding	g.chr14:104026912C>T	AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.590G>A	14.37:g.104026912C>T	ENSP00000391713:p.Arg197Gln					BAG5_ENST00000337322.4_Missense_Mutation_p.R238Q|BAG5_ENST00000299204.4_Missense_Mutation_p.R197Q|RP11-894P9.2_ENST00000556332.1_RNA	p.R197Q	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	Epithelial(46;0.144)		2	836	-		Melanoma(154;0.155)	197			BAG 3.		O94950|Q86W59	Missense_Mutation	SNP	ENST00000445922.2	37	c.590G>A	CCDS9982.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926366	0.73327	.	.	ENSG00000166170	ENST00000299204;ENST00000445922;ENST00000337322;ENST00000557666	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-1.65	5.61	5.61	0.85477	BAG domain (3);	0.000000	0.85682	D	0.000000	D	0.85974	0.5822	L	0.29908	0.895	0.53005	D	0.999966	D;D	0.63880	0.985;0.993	P;P	0.47864	0.559;0.52	D	0.87667	0.2538	10	0.87932	D	0	-29.3995	13.8819	0.63686	0.0:0.9274:0.0:0.0726	.	197;238	Q9UL15;Q9UL15-2	BAG5_HUMAN;.	Q	197;197;238;197	ENSP00000299204:R197Q;ENSP00000391713:R197Q;ENSP00000338814:R238Q;ENSP00000450497:R197Q	ENSP00000299204:R197Q	R	-	2	0	BAG5	103096665	1.000000	0.71417	0.887000	0.34795	0.905000	0.53344	5.112000	0.64634	2.647000	0.89833	0.655000	0.94253	CGA		0.532	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414990.1			30	71	0	0	0	1	0	30	71				
ADAMTSL3	57188	broad.mit.edu	37	15	84651422	84651422	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr15:84651422A>T	ENST00000286744.5	+	21	3266	c.3042A>T	c.(3040-3042)gaA>gaT	p.E1014D	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.E1014D	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1014						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)			CTATGAGGGAATATCCTGGGA	0.502																																						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.(3040-3042)gaA>gaT		ADAMTS-like 3							83.0	80.0	81.0					15																	84651422		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84651422A>T	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.3042A>T	15.37:g.84651422A>T	ENSP00000286744:p.Glu1014Asp					ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.E1014D	p.E1014D	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		21	3266	+			1014					A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.3042A>T	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	A	6.887	0.533087	0.13188	.	.	ENSG00000156218	ENST00000286744	T	0.65549	-0.16	4.97	-9.94	0.00449	.	1.564830	0.04166	N	0.324006	T	0.52435	0.1734	L	0.59436	1.845	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.11329	0.006;0.001	T	0.40757	-0.9546	10	0.38643	T	0.18	.	8.7076	0.34365	0.0954:0.3428:0.4731:0.0887	.	1014;1014	P82987-2;P82987	.;ATL3_HUMAN	D	1014	ENSP00000286744:E1014D	ENSP00000286744:E1014D	E	+	3	2	ADAMTSL3	82442426	0.000000	0.05858	0.000000	0.03702	0.100000	0.18952	-4.048000	0.00306	-3.720000	0.00116	0.460000	0.39030	GAA		0.502	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		25	58	0	0	0	1	0	25	58				
SLC9A3	6550	broad.mit.edu	37	5	482229	482229	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr5:482229C>T	ENST00000264938.3	-	8	1409	c.1400G>A	c.(1399-1401)aGg>aAg	p.R467K	CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.R458K	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	467					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GTGCTCGCTCCTCTTCACCTT	0.701																																						ENST00000264938.3																			0				NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1399-1401)aGg>aAg		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3							39.0	38.0	38.0					5																	482229		2203	4300	6503	SO:0001583	missense	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:482229C>T		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1400G>A	5.37:g.482229C>T	ENSP00000264938:p.Arg467Lys					SLC9A3_ENST00000514375.1_Missense_Mutation_p.R458K	p.R467K	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		8	1409	-			467					B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	c.1400G>A	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	C	9.231	1.035778	0.19590	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.55760	0.93;0.5	4.0	-0.295	0.12828	.	0.302698	0.32802	N	0.005634	T	0.30885	0.0779	N	0.17872	0.535	0.20196	N	0.999924	B;B	0.14438	0.01;0.002	B;B	0.16289	0.015;0.005	T	0.19031	-1.0318	10	0.17369	T	0.5	.	10.0811	0.42391	0.0:0.5799:0.0:0.4201	.	458;467	E9PF67;P48764	.;SL9A3_HUMAN	K	467;458	ENSP00000264938:R467K;ENSP00000422983:R458K	ENSP00000264938:R467K	R	-	2	0	SLC9A3	535229	0.032000	0.19561	0.430000	0.26722	0.473000	0.32948	0.451000	0.21779	-0.052000	0.13311	-0.378000	0.06908	AGG		0.701	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		3	18	0	0	0	1	0	3	18				
FBXW7	55294	broad.mit.edu	37	4	153332882	153332882	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr4:153332882G>C	ENST00000281708.4	-	2	1303	c.74C>G	c.(73-75)tCa>tGa	p.S25*	FBXW7_ENST00000604872.1_Nonsense_Mutation_p.S25*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.S25*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.S25*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	25					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)			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)				TACCTGGCTTGAGGAAGGGTT	0.493			"""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"""		0				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.(73-75)tCa>tGa		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							148.0	128.0	134.0					4																	153332882		2203	4300	6503	SO:0001587	stop_gained	55294				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.chr4:153332882G>C	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.74C>G	4.37:g.153332882G>C	ENSP00000281708:p.Ser25*					FBXW7_ENST00000603548.1_Nonsense_Mutation_p.S25*|FBXW7_ENST00000604872.1_Nonsense_Mutation_p.S25*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.S25*	p.S25*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			2	1303	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	25					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	ENST00000281708.4	37	c.74C>G	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607934	0.66558	.	.	ENSG00000109670	ENST00000281708	.	.	.	5.67	5.67	0.87782	.	0.382732	0.20685	N	0.087580	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-5.7027	19.7677	0.96349	0.0:0.0:1.0:0.0	.	.	.	.	X	25	.	ENSP00000281708:S25X	S	-	2	0	FBXW7	153552332	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.541000	0.82084	2.668000	0.90789	0.650000	0.86243	TCA		0.493	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			22	30	0	0	0	1	0	22	30				
SYNE1	23345	broad.mit.edu	37	6	152737534	152737534	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr6:152737534G>A	ENST00000367255.5	-	41	6639	c.6038C>T	c.(6037-6039)gCt>gTt	p.A2013V	SYNE1_ENST00000448038.1_Missense_Mutation_p.A2020V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A2050V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A2013V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A2020V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2013					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)		CTGCTGAAGAGCTTGGCGGGT	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.(6037-6039)gCt>gTt		spectrin repeat containing, nuclear envelope 1							193.0	199.0	197.0					6																	152737534		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.chr6:152737534G>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.6038C>T	6.37:g.152737534G>A	ENSP00000356224:p.Ala2013Val	HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Missense_Mutation_p.A2013V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A2020V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A2020V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A2050V	p.A2013V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	41	6639	-		Ovarian(120;0.0955)	2013					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.6038C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722464	0.30503	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000010	T	0.49098	0.1537	M	0.74881	2.28	0.80722	D	1	P;D;D;D	0.67145	0.953;0.993;0.994;0.996	P;P;P;D	0.63877	0.631;0.831;0.872;0.919	T	0.33137	-0.9880	10	0.30854	T	0.27	.	15.9808	0.80108	0.0:0.0:0.8648:0.1352	.	1996;2013;2013;2020	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	V	2013;2020;2013;2020;2050	ENSP00000356224:A2013V;ENSP00000396024:A2020V;ENSP00000265368:A2013V;ENSP00000390975:A2020V;ENSP00000341887:A2050V	ENSP00000265368:A2013V	A	-	2	0	SYNE1	152779227	1.000000	0.71417	0.303000	0.25071	0.351000	0.29236	5.344000	0.65981	2.836000	0.97738	0.655000	0.94253	GCT		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		59	188	0	0	0	1	0	59	188				
RS1	6247	broad.mit.edu	37	X	18662615	18662615	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chrX:18662615C>A	ENST00000379984.3	-	5	497	c.457G>T	c.(457-459)Gtg>Ttg	p.V153L	CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	153	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	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)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					CTGTACTGCACGCTGTACTTG	0.507																																						ENST00000379984.3																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15						c.(457-459)Gtg>Ttg		retinoschisin 1							195.0	147.0	163.0					X																	18662615		2203	4300	6503	SO:0001583	missense	6247				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space		g.chrX:18662615C>A	AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"""retinoschisis (X-linked, juvenile) 1"""	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.457G>T	X.37:g.18662615C>A	ENSP00000369320:p.Val153Leu					RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron	p.V153L	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN			5	497	-	Hepatocellular(33;0.183)		153			F5/8 type C.		Q0QD39	Missense_Mutation	SNP	ENST00000379984.3	37	c.457G>T	CCDS14187.1	.	.	.	.	.	.	.	.	.	.	c	5.495	0.276285	0.10403	.	.	ENSG00000102104	ENST00000379984	D	0.98849	-5.18	4.91	4.05	0.47172	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.232496	0.43919	D	0.000518	D	0.93429	0.7904	N	0.04373	-0.215	0.44439	D	0.997367	B	0.19583	0.037	B	0.16289	0.015	D	0.90241	0.4286	10	0.11485	T	0.65	.	12.6593	0.56806	0.0:0.9179:0.0:0.0821	.	153	O15537	XLRS1_HUMAN	L	153	ENSP00000369320:V153L	ENSP00000369320:V153L	V	-	1	0	RS1	18572536	0.971000	0.33674	0.932000	0.37286	0.990000	0.78478	1.386000	0.34419	1.184000	0.42957	0.591000	0.81541	GTG		0.507	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1			32	89	1	0	4.74835e-14	1	5.29275e-14	32	89				
ZNF341	84905	broad.mit.edu	37	20	32379181	32379181	+	Missense_Mutation	SNP	C	C	T	rs200244607	byFrequency	TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr20:32379181C>T	ENST00000375200.1	+	15	2788	c.2423C>T	c.(2422-2424)gCg>gTg	p.A808V	RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000423074.1_RNA|ZNF341_ENST00000342427.2_Missense_Mutation_p.A801V|RP4-553F4.6_ENST00000443171.1_RNA	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	808					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(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GTGGGTGGTGCGGTGGGCGCG	0.701													C|||	6	0.00119808	0.0	0.0	5008	,	,		14909	0.006		0.0	False		,,,				2504	0.0					ENST00000375200.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						c.(2422-2424)gCg>gTg		zinc finger protein 341							38.0	38.0	38.0					20																	32379181		2202	4299	6501	SO:0001583	missense	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32379181C>T	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.2423C>T	20.37:g.32379181C>T	ENSP00000364346:p.Ala808Val					RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA|ZNF341_ENST00000342427.2_Missense_Mutation_p.A801V|RP4-553F4.6_ENST00000423074.1_RNA	p.A808V			Q9BYN7	ZN341_HUMAN			15	2788	+			808					A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	ENST00000375200.1	37	c.2423C>T		.	.	.	.	.	.	.	.	.	.	C	12.07	1.828413	0.32329	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.09445	3.22;2.98	4.67	4.67	0.58626	.	0.879293	0.09739	N	0.762171	T	0.07324	0.0185	N	0.08118	0	0.09310	N	1	B;B;B;B	0.24368	0.012;0.102;0.012;0.021	B;B;B;B	0.15052	0.004;0.012;0.004;0.01	T	0.23797	-1.0178	10	0.72032	D	0.01	-0.0091	12.9594	0.58449	0.162:0.838:0.0:0.0	.	749;660;808;801	Q504V9;B3KU97;Q9BYN7;Q9BYN7-2	.;.;ZN341_HUMAN;.	V	801;808	ENSP00000344308:A801V;ENSP00000364346:A808V	ENSP00000344308:A801V	A	+	2	0	ZNF341	31842842	0.023000	0.18921	0.062000	0.19696	0.378000	0.30076	1.751000	0.38339	2.324000	0.78689	0.491000	0.48974	GCG		0.701	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				4	39	0	0	0	1	0	4	39				
ZFHX4	79776	broad.mit.edu	37	8	77767078	77767078	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr8:77767078G>A	ENST00000521891.2	+	10	8369	c.7921G>A	c.(7921-7923)Gaa>Aaa	p.E2641K	ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2596K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2615K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2596K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2596					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TATTGCCCGCGAAGTCGGGCT	0.512										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(7921-7923)Gaa>Aaa		zinc finger homeobox 4							40.0	41.0	40.0					8																	77767078		1861	4109	5970	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767078G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7921G>A	8.37:g.77767078G>A	ENSP00000430497:p.Glu2641Lys	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2596K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2615K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2596K	p.E2641K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8369	+			2596					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7921G>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305656	0.40795	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.95788	-3.81;-3.81;-3.81;-3.81	5.25	5.25	0.73442	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.45126	U	0.000391	D	0.95166	0.8433	N	0.16833	0.445	0.80722	D	1	P;P;P	0.51449	0.824;0.789;0.945	P;P;P	0.61874	0.842;0.755;0.895	D	0.96101	0.9069	10	0.72032	D	0.01	.	19.0315	0.92959	0.0:0.0:1.0:0.0	.	2596;2596;2641	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	K	2641;2625;2596;2596;2615	ENSP00000430497:E2641K;ENSP00000399605:E2596K;ENSP00000050961:E2596K;ENSP00000430848:E2615K	ENSP00000050961:E2596K	E	+	1	0	ZFHX4	77929633	1.000000	0.71417	0.361000	0.25849	0.021000	0.10359	9.657000	0.98554	2.728000	0.93425	0.650000	0.86243	GAA		0.512	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		16	46	0	0	0	1	0	16	46				
GOLGA6L17P	642402	broad.mit.edu	37	15	85053142	85053142	+	RNA	SNP	C	C	T	rs184555335	byFrequency	TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr15:85053142C>T	ENST00000414190.2	-	0	310					NR_003246.2																						TTTTTCAATTCCTTGACCCGC	0.413													.|||	2313	0.461861	0.4849	0.4121	5008	,	,		9054	0.4554		0.4632	False		,,,				2504	0.4714					ENST00000414190.2																			0																																																			642402							g.chr15:85053142C>T																													15.37:g.85053142C>T								NR_003246.2						0	310	-									RNA	SNP	ENST00000414190.2	37																																																																																						0.413	GOLGA6L5-003	KNOWN	mRNA_end_NF|basic	processed_transcript	pseudogene	OTTHUMT00000418579.1			4	10	0	0	0	1	0	4	10				
OR5A1	219982	broad.mit.edu	37	11	59210828	59210828	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr11:59210828T>A	ENST00000302030.2	+	1	212	c.187T>A	c.(187-189)Tac>Aac	p.Y63N		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	63						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(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CACACCCATGTACTTCTTCCT	0.488																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(187-189)Tac>Aac		olfactory receptor, family 5, subfamily A, member 1							161.0	155.0	157.0					11																	59210828		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59210828T>A	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.187T>A	11.37:g.59210828T>A	ENSP00000303096:p.Tyr63Asn						p.Y63N	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	212	+			63					B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.187T>A	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.483154	0.84747	.	.	ENSG00000172320	ENST00000302030	T	0.15603	2.41	5.98	5.98	0.97165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000194	T	0.56601	0.1996	H	0.96333	3.805	0.52501	D	0.999956	D	0.89917	1.0	D	0.91635	0.999	T	0.71272	-0.4642	10	0.87932	D	0	-26.0636	15.3131	0.74053	0.0:0.0:0.0:1.0	.	63	Q8NGJ0	OR5A1_HUMAN	N	63	ENSP00000303096:Y63N	ENSP00000303096:Y63N	Y	+	1	0	OR5A1	58967404	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.213000	0.72194	2.288000	0.76882	0.528000	0.53228	TAC		0.488	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		36	103	0	0	0	1	0	36	103				
SHC4	399694	broad.mit.edu	37	15	49255046	49255046	+	Missense_Mutation	SNP	G	G	A	rs142795434	byFrequency	TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr15:49255046G>A	ENST00000332408.4	-	1	595	c.167C>T	c.(166-168)cCg>cTg	p.P56L		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	56	CH2.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		GGGAGGCTGCGGCGAGCCCTT	0.667													G|||	12	0.00239617	0.0015	0.0	5008	,	,		12855	0.0099		0.0	False		,,,				2504	0.0					ENST00000332408.4																			0				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(166-168)cCg>cTg		SHC (Src homology 2 domain containing) family, member 4		G	LEU/PRO	2,4392		0,2,2195	31.0	35.0	34.0		167	2.4	0.6	15	dbSNP_134	34	0,8588		0,0,4294	yes	missense	SHC4	NM_203349.3	98	0,2,6489	AA,AG,GG		0.0,0.0455,0.0154	benign	56/631	49255046	2,12980	2197	4294	6491	SO:0001583	missense	399694				intracellular signal transduction	cell junction|postsynaptic membrane		g.chr15:49255046G>A	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.167C>T	15.37:g.49255046G>A	ENSP00000329668:p.Pro56Leu						p.P56L	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)	1	595	-		all_lung(180;0.00466)	56			CH2.		Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	37	c.167C>T	CCDS10130.1	4	0.0018315018315018315	1	0.0020325203252032522	0	0.0	3	0.005244755244755245	0	0.0	G	13.11	2.139624	0.37728	4.55E-4	0.0	ENSG00000185634	ENST00000332408	T	0.50001	0.76	4.34	2.36	0.29203	.	0.983418	0.08302	N	0.966742	T	0.26048	0.0635	L	0.33485	1.01	0.37437	D	0.914267	P	0.40398	0.716	B	0.28011	0.085	T	0.11324	-1.0592	10	0.40728	T	0.16	-2.105	12.3616	0.55207	0.0:0.0:0.671:0.329	.	56	Q6S5L8	SHC4_HUMAN	L	56	ENSP00000329668:P56L	ENSP00000329668:P56L	P	-	2	0	SHC4	47042338	0.989000	0.36119	0.608000	0.28969	0.942000	0.58702	2.273000	0.43381	0.403000	0.25479	-0.397000	0.06425	CCG		0.667	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		6	68	0	0	0	1	0	6	68				
EEPD1	80820	broad.mit.edu	37	7	36194453	36194453	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr7:36194453G>A	ENST00000242108.4	+	2	1238	c.520G>A	c.(520-522)Gtt>Att	p.V174I	EEPD1_ENST00000534978.1_Missense_Mutation_p.V174I	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	174					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CTTTCGCAGCGTTGAGGACCT	0.627																																						ENST00000242108.4																			0				endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						c.(520-522)Gtt>Att		endonuclease/exonuclease/phosphatase family domain containing 1							70.0	75.0	74.0					7																	36194453		2203	4300	6503	SO:0001583	missense	80820				DNA repair		DNA binding	g.chr7:36194453G>A	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.520G>A	7.37:g.36194453G>A	ENSP00000242108:p.Val174Ile					EEPD1_ENST00000534978.1_Missense_Mutation_p.V174I	p.V174I	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN			2	1238	+			174					Q96K64|Q9C0F7	Missense_Mutation	SNP	ENST00000242108.4	37	c.520G>A	CCDS34619.1	.	.	.	.	.	.	.	.	.	.	G	9.882	1.201906	0.22121	.	.	ENSG00000122547	ENST00000242108;ENST00000534978	T;T	0.23754	1.89;1.89	5.0	4.12	0.48240	.	0.193192	0.45126	D	0.000400	T	0.09555	0.0235	N	0.04655	-0.195	0.33436	D	0.581808	B	0.15473	0.013	B	0.14578	0.011	T	0.20009	-1.0288	10	0.11485	T	0.65	-20.1021	6.1034	0.20059	0.255:0.0:0.745:0.0	.	174	Q7L9B9	EEPD1_HUMAN	I	174	ENSP00000242108:V174I;ENSP00000442692:V174I	ENSP00000242108:V174I	V	+	1	0	EEPD1	36160978	1.000000	0.71417	0.937000	0.37676	0.982000	0.71751	2.390000	0.44416	1.338000	0.45544	0.561000	0.74099	GTT		0.627	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	NM_030636		7	44	0	0	0	1	0	7	44				
TRPC1	7220	broad.mit.edu	37	3	142521123	142521123	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr3:142521123C>T	ENST00000476941.1	+	10	2180	c.1694C>T	c.(1693-1695)tCa>tTa	p.S565L	RNU7-47P_ENST00000515978.1_RNA|TRPC1_ENST00000273482.6_Missense_Mutation_p.S531L	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	565					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						GGATATACTTCAAAGGAGCAG	0.333																																						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.(1591-1593)tCa>tTa		transient receptor potential cation channel, subfamily C, member 1							99.0	97.0	97.0					3																	142521123		2203	4300	6503	SO:0001583	missense	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.chr3:142521123C>T	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.1694C>T	3.37:g.142521123C>T	ENSP00000419313:p.Ser565Leu					TRPC1_ENST00000476941.1_Missense_Mutation_p.S565L	p.S531L	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN			9	1983	+			565					Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.1592C>T	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	C	9.776	1.174050	0.21704	.	.	ENSG00000144935	ENST00000476941;ENST00000273482;ENST00000416210	D;D	0.98455	-4.94;-4.94	5.47	5.47	0.80525	Ion transport (1);	1.264910	0.05322	N	0.526692	D	0.95484	0.8533	N	0.19112	0.55	0.09310	N	1	B;B;B	0.11235	0.004;0.003;0.002	B;B;B	0.13407	0.006;0.009;0.003	D	0.86424	0.1756	10	0.30854	T	0.27	-6.0007	10.8371	0.46694	0.0:0.885:0.0:0.115	.	531;565;531	A7VJS2;P48995;P48995-2	.;TRPC1_HUMAN;.	L	565;531;84	ENSP00000419313:S565L;ENSP00000273482:S531L	ENSP00000273482:S531L	S	+	2	0	TRPC1	144003813	0.006000	0.16342	0.146000	0.22360	0.508000	0.34012	2.182000	0.42556	2.726000	0.93360	0.650000	0.86243	TCA		0.333	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		14	66	0	0	0	1	0	14	66				
ADSS	159	broad.mit.edu	37	1	244614999	244614999	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr1:244614999C>A	ENST00000366535.3	-	1	437	c.121G>T	c.(121-123)Gaa>Taa	p.E41*		NM_001126.3	NP_001117.2			adenylosuccinate synthase									p.E41K(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			CCTTTGCCTTCGTCGCCCCAC	0.736																																						ENST00000366535.3																			1	Substitution - Missense(1)	p.E41K(1)	urinary_tract(1)	endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(121-123)Gaa>Taa		adenylosuccinate synthase	L-Aspartic Acid(DB00128)						37.0	31.0	33.0					1																	244614999		2202	4298	6500	SO:0001587	stop_gained	159				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr1:244614999C>A	BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.121G>T	1.37:g.244614999C>A	ENSP00000355493:p.Glu41*						p.E41*	NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		1	437	-	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	41			IMP binding (By similarity).			Nonsense_Mutation	SNP	ENST00000366535.3	37	c.121G>T	CCDS1624.1	.	.	.	.	.	.	.	.	.	.	C	42	9.592794	0.99214	.	.	ENSG00000035687	ENST00000366535;ENST00000449326	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.8544	18.4916	0.90849	0.0:1.0:0.0:0.0	.	.	.	.	X	41;20	.	ENSP00000355493:E41X	E	-	1	0	ADSS	242681622	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	7.074000	0.76791	2.468000	0.83385	0.655000	0.94253	GAA		0.736	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	NM_001126		7	13	1	0	0.0293803	1	0.0295492	7	13				
IGHV1-69	28461	broad.mit.edu	37	14	107170006	107170006	+	RNA	SNP	G	G	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr14:107170006G>T	ENST00000390633.2	-	0	336									immunoglobulin heavy variable 1-69																		TCGTGGATTTGTCCGCGGTAA	0.542																																						ENST00000390633.2																			0																				314.0	258.0	277.0					14																	107170006		2095	4203	6298			28461							g.chr14:107170006G>T	L22582		14q32.33	2012-02-10			ENSG00000211973	ENSG00000211973		"""Immunoglobulins / IGH locus"""	5558	other	immunoglobulin gene				IGHV1-E		8469934	Standard	NG_001019		Approved				OTTHUMG00000151862		14.37:g.107170006G>T														0	336	-									RNA	SNP	ENST00000390633.2	37																																																																																						0.542	IGHV1-69-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324207.1	NG_001019		58	277	1	0	4.17463e-26	1	4.80632e-26	58	277				
ANKRD17	26057	broad.mit.edu	37	4	74010532	74010532	+	Silent	SNP	A	A	C			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr4:74010532A>C	ENST00000358602.4	-	11	2003	c.1887T>G	c.(1885-1887)ggT>ggG	p.G629G	ANKRD17_ENST00000330838.6_Silent_p.G629G|ANKRD17_ENST00000509867.2_Silent_p.G516G|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	629					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGTTCTTCCACCTTCAGATT	0.303																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(1885-1887)ggT>ggG		ankyrin repeat domain 17							76.0	74.0	75.0					4																	74010532		2203	4300	6503	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74010532A>C	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.1887T>G	4.37:g.74010532A>C						ANKRD17_ENST00000330838.6_Silent_p.G629G|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Silent_p.G516G	p.G629G	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		11	2003	-	Breast(15;0.000295)		629					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.1887T>G	CCDS34004.1																																																																																				0.303	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		6	16	0	0	0	1	0	6	16				
PTPRD	5789	broad.mit.edu	37	9	8485931	8485931	+	Silent	SNP	G	G	A	rs370343083	byFrequency	TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr9:8485931G>A	ENST00000381196.4	-	25	3429	c.2886C>T	c.(2884-2886)aaC>aaT	p.N962N	PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000360074.4_Silent_p.N949N|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000540109.1_Silent_p.N962N|PTPRD_ENST00000356435.5_Silent_p.N962N|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Silent_p.N940N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	962	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)	p.N962N(1)		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)		GAAGGGGGATGTTGATATCCC	0.468										TSP Lung(15;0.13)			G|||	7	0.00139776	0.0	0.0	5008	,	,		19431	0.0069		0.0	False		,,,				2504	0.0					ENST00000381196.4																			1	Substitution - coding silent(1)	p.N962N(1)	stomach(1)	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.(2884-2886)aaC>aaT		protein tyrosine phosphatase, receptor type, D							172.0	169.0	170.0					9																	8485931		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.chr9:8485931G>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.2886C>T	9.37:g.8485931G>A		TSP Lung(15;0.13)				PTPRD_ENST00000540109.1_Silent_p.N962N|PTPRD_ENST00000360074.4_Silent_p.N949N|PTPRD_ENST00000358503.5_Silent_p.N940N|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Silent_p.N962N|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000537002.1_Intron	p.N962N	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)	25	3429	-		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)	962			Fibronectin type-III 7.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.2886C>T	CCDS43786.1																																																																																				0.468	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			9	104	0	0	0	1	0	9	104				
TMEM60	85025	broad.mit.edu	37	7	77423688	77423688	+	Start_Codon_SNP	SNP	C	C	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr7:77423688C>T	ENST00000257663.3	-	2	379	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	1						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)	4						AGGACATTCTCATTTAAACAG	0.388																																						ENST00000257663.3																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(1-3)atG>atA		transmembrane protein 60							54.0	54.0	54.0					7																	77423688		2201	4300	6501	SO:0001582	initiator_codon_variant	85025					integral to membrane		g.chr7:77423688C>T	AF260336	CCDS5593.1	7q11.23	2005-07-25	2005-07-25	2005-07-25	ENSG00000135211	ENSG00000135211			21754	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 35"""	C7orf35			Standard	NM_032936		Approved	DC32	uc003ugn.3	Q9H2L4	OTTHUMG00000130689	ENST00000257663.3:c.3G>A	7.37:g.77423688C>T	ENSP00000257663:p.Met1Ile						p.M1I	NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN			2	379	-			1					A4D1C3|Q86UM0	Translation_Start_Site	SNP	ENST00000257663.3	37	c.3G>A	CCDS5593.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150690	0.78001	.	.	ENSG00000135211	ENST00000257663	T	0.23348	1.91	6.07	6.07	0.98685	.	0.104495	0.64402	D	0.000006	T	0.50803	0.1637	.	.	.	0.09310	N	0.999999	P	0.39094	0.659	P	0.55391	0.775	T	0.39418	-0.9615	9	0.87932	D	0	-13.572	20.6593	0.99626	0.0:1.0:0.0:0.0	.	1	Q9H2L4	TMM60_HUMAN	I	1	ENSP00000257663:M1I	ENSP00000257663:M1I	M	-	3	0	TMEM60	77261624	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.334000	0.65923	2.885000	0.99019	0.655000	0.94253	ATG		0.388	TMEM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253185.2	NM_032936	Missense_Mutation	13	36	0	0	0	1	0	13	36				
PRDM2	7799	broad.mit.edu	37	1	14107666	14107666	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr1:14107666G>T	ENST00000235372.7	+	8	4232	c.3376G>T	c.(3376-3378)Gtt>Ttt	p.V1126F	PRDM2_ENST00000413440.1_Missense_Mutation_p.V925F|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.V925F|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.V1126F	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1126					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)		GGATGTTGTTGTTCAGGAAAC	0.403																																						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.(3376-3378)Gtt>Ttt		PR domain containing 2, with ZNF domain							98.0	100.0	99.0					1																	14107666		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.chr1:14107666G>T	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.3376G>T	1.37:g.14107666G>T	ENSP00000235372:p.Val1126Phe					PRDM2_ENST00000343137.4_Missense_Mutation_p.V925F|PRDM2_ENST00000311066.5_Missense_Mutation_p.V1126F|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.V925F	p.V1126F	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	4232	+	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)	1126					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.3376G>T	CCDS150.1	.	.	.	.	.	.	.	.	.	.	G	6.885	0.532702	0.13127	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01572	4.88;4.76;4.76;4.76	5.56	1.6	0.23607	.	0.385121	0.27754	N	0.017993	T	0.01489	0.0048	L	0.36672	1.1	0.09310	N	1	B;B;B	0.24186	0.099;0.004;0.007	B;B;B	0.14578	0.011;0.004;0.01	T	0.46400	-0.9194	10	0.35671	T	0.21	.	4.9167	0.13849	0.2994:0.0:0.5598:0.1409	.	984;1126;1126	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	F	1126;1126;1126;925;925	ENSP00000235372:V1126F;ENSP00000312352:V1126F;ENSP00000411103:V925F;ENSP00000341621:V925F	ENSP00000235372:V1126F	V	+	1	0	PRDM2	13980253	0.975000	0.34042	0.599000	0.28851	0.970000	0.65996	2.859000	0.48364	0.723000	0.32274	0.655000	0.94253	GTT		0.403	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		24	82	1	0	1.22574e-08	1	1.29219e-08	24	82				
USP34	9736	broad.mit.edu	37	2	61597522	61597522	+	Silent	SNP	C	C	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr2:61597522C>T	ENST00000398571.2	-	10	1261	c.1185G>A	c.(1183-1185)ttG>ttA	p.L395L		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	395					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)			CCAAAAAATTCAAAATCACTT	0.328																																						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.(1183-1185)ttG>ttA		ubiquitin specific peptidase 34							123.0	113.0	116.0					2																	61597522		1836	4088	5924	SO:0001819	synonymous_variant	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.chr2:61597522C>T	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.1185G>A	2.37:g.61597522C>T							p.L395L	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		10	1261	-			395					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	c.1185G>A	CCDS42686.1																																																																																				0.328	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			25	91	0	0	0	1	0	25	91				
OR10G2	26534	broad.mit.edu	37	14	22102498	22102498	+	Silent	SNP	C	C	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr14:22102498C>T	ENST00000542433.1	-	1	598	c.501G>A	c.(499-501)ttG>ttA	p.L167L		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	167						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(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		GGCGGAAGGTCAAGGTGGCCT	0.562																																						ENST00000542433.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22						c.(499-501)ttG>ttA		olfactory receptor, family 10, subfamily G, member 2							83.0	84.0	84.0					14																	22102498		2203	4300	6503	SO:0001819	synonymous_variant	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102498C>T		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.501G>A	14.37:g.22102498C>T							p.L167L	NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	598	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	167					B2RPD0	Silent	SNP	ENST00000542433.1	37	c.501G>A	CCDS32047.1																																																																																				0.562	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			37	67	0	0	0	1	0	37	67				
OR6C65	403282	broad.mit.edu	37	12	55795041	55795041	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr12:55795041G>A	ENST00000379665.2	+	1	828	c.729G>A	c.(727-729)atG>atA	p.M243I		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	243						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)|large_intestine(3)|lung(9)	15						CCTCCCATATGATTGTGGTTT	0.398																																						ENST00000379665.2																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						c.(727-729)atG>atA		olfactory receptor, family 6, subfamily C, member 65							122.0	112.0	115.0					12																	55795041		2203	4300	6503	SO:0001583	missense	403282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55795041G>A		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.729G>A	12.37:g.55795041G>A	ENSP00000368986:p.Met243Ile						p.M243I	NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN			1	828	+			243					B2RNH9	Missense_Mutation	SNP	ENST00000379665.2	37	c.729G>A	CCDS31821.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852003	0.32699	.	.	ENSG00000205328	ENST00000379665	T	0.32988	1.43	3.71	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	0.299670	0.23305	U	0.049629	T	0.22360	0.0539	N	0.16166	0.38	0.37183	D	0.903592	B	0.24533	0.105	B	0.30251	0.113	T	0.24799	-1.0150	10	0.51188	T	0.08	.	15.6375	0.76966	0.0:0.0:1.0:0.0	.	243	A6NJZ3	O6C65_HUMAN	I	243	ENSP00000368986:M243I	ENSP00000368986:M243I	M	+	3	0	OR6C65	54081308	0.043000	0.20138	0.969000	0.41365	0.289000	0.27227	0.368000	0.20399	2.076000	0.62316	0.424000	0.28305	ATG		0.398	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1			30	88	0	0	0	1	0	30	88				
GULP1	51454	broad.mit.edu	37	2	189387546	189387546	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr2:189387546A>T	ENST00000409580.1	+	6	868	c.154A>T	c.(154-156)Aaa>Taa	p.K52*	GULP1_ENST00000409830.1_Nonsense_Mutation_p.K52*|GULP1_ENST00000479019.1_3'UTR|GULP1_ENST00000410051.1_Nonsense_Mutation_p.K52*|GULP1_ENST00000409609.1_Nonsense_Mutation_p.K52*|GULP1_ENST00000359135.3_Nonsense_Mutation_p.K52*|GULP1_ENST00000409843.1_Nonsense_Mutation_p.K52*|GULP1_ENST00000409805.1_Intron|GULP1_ENST00000409637.3_Nonsense_Mutation_p.K52*			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	52	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				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)			TGCTGTAAGGAAACTAAAGGT	0.403																																					Pancreas(178;563 2065 20199 42378 52815)	ENST00000409580.1																			0				endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13						c.(154-156)Aaa>Taa		GULP, engulfment adaptor PTB domain containing 1							125.0	122.0	123.0					2																	189387546		2203	4300	6503	SO:0001587	stop_gained	51454				apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity	g.chr2:189387546A>T	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.154A>T	2.37:g.189387546A>T	ENSP00000386289:p.Lys52*					GULP1_ENST00000409805.1_Intron|GULP1_ENST00000359135.3_Nonsense_Mutation_p.K52*|GULP1_ENST00000409637.3_Nonsense_Mutation_p.K52*|GULP1_ENST00000479019.1_3'UTR|GULP1_ENST00000409830.1_Nonsense_Mutation_p.K52*|GULP1_ENST00000410051.1_Nonsense_Mutation_p.K52*|GULP1_ENST00000409609.1_Nonsense_Mutation_p.K52*|GULP1_ENST00000409843.1_Nonsense_Mutation_p.K52*	p.K52*			Q9UBP9	GULP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)		6	868	+			52			PID.		B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3	Nonsense_Mutation	SNP	ENST00000409580.1	37	c.154A>T	CCDS2295.1	.	.	.	.	.	.	.	.	.	.	A	39	7.303298	0.98200	.	.	ENSG00000144366	ENST00000409843;ENST00000409830;ENST00000410051;ENST00000409927;ENST00000359135;ENST00000409580;ENST00000409637;ENST00000409609	.	.	.	5.28	5.28	0.74379	.	0.188835	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7673	13.4502	0.61167	1.0:0.0:0.0:0.0	.	.	.	.	X	52	.	ENSP00000352047:K52X	K	+	1	0	GULP1	189095791	1.000000	0.71417	0.814000	0.32528	0.170000	0.22686	7.737000	0.84957	2.131000	0.65755	0.383000	0.25322	AAA		0.403	GULP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335722.1	NM_016315		20	57	0	0	0	1	0	20	57				
ZNF300P1	134466	broad.mit.edu	37	5	150311004	150311004	+	RNA	SNP	C	C	G			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr5:150311004C>G	ENST00000520773.1	-	0	2317									zinc finger protein 300 pseudogene 1 (functional)																		AGTATGTATTCTCTGATGTAT	0.423																																						ENST00000520773.1																			0																																																			134466							g.chr5:150311004C>G	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>G														0	2317	-									RNA	SNP	ENST00000520773.1	37																																																																																						0.423	ZNF300P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000374771.1	NR_026867		11	17	0	0	0	1	0	11	17				
CTTN	2017	broad.mit.edu	37	11	70282397	70282397	+	3'UTR	SNP	C	C	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr11:70282397C>T	ENST00000301843.8	+	0	2988				CTTN_ENST00000376561.3_Silent_p.I596I|CTTN_ENST00000346329.3_3'UTR	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin						negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GGAAACTCATCTCCTTCCTGA	0.582																																						ENST00000376561.3																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31						c.(1786-1788)atC>atT		cortactin							80.0	79.0	80.0					11																	70282397		873	1985	2858	SO:0001624	3_prime_UTR_variant	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70282397C>T	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.*1129C>T	11.37:g.70282397C>T						CTTN_ENST00000346329.3_3'UTR|CTTN_ENST00000301843.8_3'UTR	p.I596I	NM_001184740.1	NP_001171669.1	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	19	1959	+			0					Q8N707|Q96H99	Silent	SNP	ENST00000301843.8	37	c.1788C>T	CCDS41680.1																																																																																				0.582	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		271	54	0	0	0	1	0	271	54				
TGFB2	7042	broad.mit.edu	37	1	218520231	218520231	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr1:218520231T>G	ENST00000366930.4	+	1	655	c.188T>G	c.(187-189)gTc>gGc	p.V63G	TGFB2_ENST00000366929.4_Missense_Mutation_p.V63G|RP11-224O19.2_ENST00000414452.1_RNA	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	63					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		CCCGAGGAAGTCCCCCCGGAG	0.632																																						ENST00000366929.4																			0				breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(187-189)gTc>gGc		transforming growth factor, beta 2							47.0	49.0	49.0					1																	218520231		2203	4300	6503	SO:0001583	missense	7042				activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	g.chr1:218520231T>G	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.188T>G	1.37:g.218520231T>G	ENSP00000355897:p.Val63Gly					TGFB2_ENST00000366930.4_Missense_Mutation_p.V63G	p.V63G	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN		all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)	1	655	+			63					B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Missense_Mutation	SNP	ENST00000366930.4	37	c.188T>G	CCDS1521.1	.	.	.	.	.	.	.	.	.	.	T	16.33	3.092641	0.56075	.	.	ENSG00000092969	ENST00000366930;ENST00000366929	T;T	0.70045	-0.45;-0.45	5.45	5.45	0.79879	Transforming growth factor-beta, N-terminal (1);	0.055947	0.64402	D	0.000001	T	0.66426	0.2788	L	0.51422	1.61	0.80722	D	1	B;B;P	0.38827	0.124;0.186;0.649	B;B;B	0.41813	0.149;0.182;0.367	T	0.70908	-0.4744	10	0.87932	D	0	.	15.6755	0.77316	0.0:0.0:0.0:1.0	.	63;63;64	P61812-2;P61812;Q59EG9	.;TGFB2_HUMAN;.	G	63	ENSP00000355897:V63G;ENSP00000355896:V63G	ENSP00000355896:V63G	V	+	2	0	TGFB2	216586854	1.000000	0.71417	0.578000	0.28575	0.997000	0.91878	4.953000	0.63624	2.288000	0.76882	0.482000	0.46254	GTC		0.632	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		24	51	0	0	0	1	0	24	51				
MIR520F	574464	broad.mit.edu	37	19	54188333	54188333	+	RNA	SNP	T	T	C			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr19:54188333T>C	ENST00000384824.1	+	0	87				MIR519C_ENST00000385053.1_RNA|MIR515-2_ENST00000384883.1_RNA	NR_030186.1				microRNA 520f																		TTTTGGAGCGTTACTGTTTGA	0.423																																						ENST00000384883.1																			0																				83.0	74.0	77.0					19																	54188333		1568	3563	5131			574465							g.chr19:54188333T>C			19q13.42	2011-09-12		2008-12-18	ENSG00000207555	ENSG00000207555		"""ncRNAs / Micro RNAs"""	32096	non-coding RNA	RNA, micro				MIRN520F			Standard	NR_030186		Approved	hsa-mir-520f	uc021uzp.1				19.37:g.54188333T>C								NR_030184.1|NR_030187.1						0	71	+									RNA	SNP	ENST00000384824.1	37																																																																																						0.423	MIR520F-201	KNOWN	basic	miRNA	miRNA		NR_030186		14	31	0	0	0	1	0	14	31				
KDM5C	8242	broad.mit.edu	37	X	53230783	53230783	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chrX:53230783C>A	ENST00000375401.3	-	14	2542	c.2010G>T	c.(2008-2010)atG>atT	p.M670I	KDM5C_ENST00000452825.3_Missense_Mutation_p.M603I|KDM5C_ENST00000375383.3_Missense_Mutation_p.M629I|KDM5C_ENST00000404049.3_Missense_Mutation_p.M669I|KDM5C_ENST00000375379.3_Missense_Mutation_p.M670I|KDM5C_ENST00000465402.1_5'UTR	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	670					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						CCATGATGAACATCTCCTTAT	0.557			"""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.(1807-1809)atG>atT		lysine (K)-specific demethylase 5C							91.0	83.0	85.0					X																	53230783		2203	4300	6503	SO:0001583	missense	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:53230783C>A	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.2010G>T	X.37:g.53230783C>A	ENSP00000364550:p.Met670Ile					KDM5C_ENST00000375379.3_Missense_Mutation_p.M670I|KDM5C_ENST00000375383.3_Missense_Mutation_p.M629I|KDM5C_ENST00000465402.1_5'UTR|KDM5C_ENST00000375401.3_Missense_Mutation_p.M670I|KDM5C_ENST00000404049.3_Missense_Mutation_p.M669I	p.M603I	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN			12	2341	-			670			JmjC.		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	c.1809G>T	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652682	0.67472	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D;D	0.86366	-2.11;-1.81;-1.81;-1.82;-1.96	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.86514	0.5951	M	0.64997	1.995	0.52099	D	0.999943	B;B;B	0.26512	0.052;0.151;0.151	B;B;B	0.28385	0.038;0.089;0.089	D	0.85237	0.1036	10	0.87932	D	0	-16.666	15.8095	0.78547	0.0:1.0:0.0:0.0	.	603;669;670	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	I	603;670;669;670;629	ENSP00000445176:M603I;ENSP00000364550:M670I;ENSP00000385394:M669I;ENSP00000364528:M670I;ENSP00000364532:M629I	ENSP00000364528:M670I	M	-	3	0	KDM5C	53247508	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.920000	0.70017	2.331000	0.79229	0.600000	0.82982	ATG		0.557	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		23	59	1	0	7.33628e-21	1	8.28289e-21	23	59				
ZNF20	7568	broad.mit.edu	37	19	12243777	12243777	+	Silent	SNP	A	A	C			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr19:12243777A>C	ENST00000334213.5	-	4	1448	c.1224T>G	c.(1222-1224)tcT>tcG	p.S408S	ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000485451.1_5'Flank|ZNF20_ENST00000600335.1_Intron	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	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)|kidney(1)|lung(6)	8						TACGCAAGGAAGAAAAATACT	0.403																																						ENST00000334213.5																			0				endometrium(1)|kidney(1)|lung(6)	8						c.(1222-1224)tcT>tcG		zinc finger protein 20							77.0	82.0	80.0					19																	12243777		2174	4287	6461	SO:0001819	synonymous_variant	7568				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12243777A>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.1224T>G	19.37:g.12243777A>C						ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron	p.S408S	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN			4	1448	-			408					Q8N457|Q9UG41	Silent	SNP	ENST00000334213.5	37	c.1224T>G	CCDS45986.1																																																																																				0.403	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344101.1	NM_021143		8	59	0	0	0	1	0	8	59				
DMD	1756	broad.mit.edu	37	X	32519946	32519946	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chrX:32519946T>C	ENST00000357033.4	-	19	2512	c.2306A>G	c.(2305-2307)gAa>gGa	p.E769G	DMD_ENST00000378677.2_Missense_Mutation_p.E765G	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	769					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)				CTCAGCTTTTTCTCGCTCTAT	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.(2305-2307)gAa>gGa		dystrophin							83.0	67.0	72.0					X																	32519946		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:32519946T>C	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.2306A>G	X.37:g.32519946T>C	ENSP00000354923:p.Glu769Gly					DMD_ENST00000378677.2_Missense_Mutation_p.E765G	p.E769G	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			19	2512	-		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)	769					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.2306A>G	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.181723	0.78677	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.60299	0.2;0.2	5.35	5.35	0.76521	.	0.000000	0.35936	U	0.002891	T	0.74427	0.3715	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.81914	0.991;0.993;0.995	T	0.77496	-0.2566	10	0.66056	D	0.02	.	14.4598	0.67440	0.0:0.0:0.0:1.0	.	761;769;765	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	G	761;765;769;769;646	ENSP00000367948:E765G;ENSP00000354923:E769G	ENSP00000354923:E769G	E	-	2	0	DMD	32429867	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.181000	0.71988	1.794000	0.52575	0.441000	0.28932	GAA		0.418	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		8	18	0	0	0	1	0	8	18				
ZXDB	158586	broad.mit.edu	37	X	57620826	57620826	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chrX:57620826C>T	ENST00000374888.1	+	1	2558	c.2345C>T	c.(2344-2346)gCa>gTa	p.A782V		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	782					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)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CCCAATGCAGCAGGAAACCAT	0.453																																						ENST00000374888.1																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(2344-2346)gCa>gTa		zinc finger, X-linked, duplicated B							164.0	147.0	153.0					X																	57620826		2203	4300	6503	SO:0001583	missense	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57620826C>T	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.2345C>T	X.37:g.57620826C>T	ENSP00000364023:p.Ala782Val						p.A782V	NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN			1	2558	+			782					A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	c.2345C>T	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	3.083	-0.188626	0.06299	.	.	ENSG00000198455	ENST00000374888	T	0.11495	2.77	3.91	3.04	0.35103	.	0.376195	0.28821	N	0.014036	T	0.08223	0.0205	L	0.39898	1.24	0.09310	N	1	B	0.32573	0.376	B	0.25506	0.061	T	0.23583	-1.0184	10	0.45353	T	0.12	.	8.7328	0.34510	0.0:0.8828:0.0:0.1172	.	782	P98169	ZXDB_HUMAN	V	782	ENSP00000364023:A782V	ENSP00000364023:A782V	A	+	2	0	ZXDB	57637551	0.011000	0.17503	0.006000	0.13384	0.085000	0.17905	1.777000	0.38604	0.812000	0.34326	-0.297000	0.09499	GCA		0.453	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		30	116	0	0	0	1	0	30	116				
SAFB2	9667	broad.mit.edu	37	19	5622657	5622657	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr19:5622657C>T	ENST00000252542.4	-	1	334	c.70G>A	c.(70-72)Gag>Aag	p.E24K	SAFB_ENST00000538656.1_5'Flank|SAFB_ENST00000454510.1_5'Flank|SAFB_ENST00000433404.1_5'Flank|SAFB_ENST00000592224.1_5'Flank|SAFB_ENST00000588852.1_5'Flank|SAFB_ENST00000292123.5_5'Flank	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	24					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		GTCCCAGTCTCCGCAACGCCC	0.692																																					Ovarian(127;888 1728 23957 44128 52668)	ENST00000252542.4																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(70-72)Gag>Aag		scaffold attachment factor B2							15.0	15.0	15.0					19																	5622657		2196	4292	6488	SO:0001583	missense	9667				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5622657C>T	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.70G>A	19.37:g.5622657C>T	ENSP00000252542:p.Glu24Lys						p.E24K	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	1	334	-			24					B4DKG3|Q8TB13	Missense_Mutation	SNP	ENST00000252542.4	37	c.70G>A	CCDS32879.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771441	0.69992	.	.	ENSG00000130254	ENST00000434962;ENST00000415313;ENST00000394625;ENST00000252542;ENST00000536849	T	0.10099	2.91	3.76	2.71	0.32032	.	0.172250	0.27668	N	0.018348	T	0.28962	0.0719	M	0.77103	2.36	0.38686	D	0.95266	D;P	0.58620	0.983;0.948	D;B	0.66602	0.945;0.351	T	0.10382	-1.0632	10	0.66056	D	0.02	-21.6556	10.2234	0.43212	0.0:0.901:0.0:0.099	.	24;24	A0PJ47;Q14151	.;SAFB2_HUMAN	K	24;24;24;24;3	ENSP00000252542:E24K	ENSP00000252542:E24K	E	-	1	0	SAFB2	5573657	0.817000	0.29147	0.017000	0.16124	0.042000	0.13812	5.194000	0.65125	0.915000	0.36847	0.555000	0.69702	GAG		0.692	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649		3	6	0	0	0	1	0	3	6				
ZNF578	147660	broad.mit.edu	37	19	53015266	53015266	+	Silent	SNP	T	T	C			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr19:53015266T>C	ENST00000421239.2	+	6	1876	c.1632T>C	c.(1630-1632)tgT>tgC	p.C544C	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	544					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GTAAGGTTTGTGACAAGGCTT	0.393																																						ENST00000421239.2																			0											c.(1630-1632)tgT>tgC		zinc finger protein 578							69.0	74.0	72.0					19																	53015266		2202	4300	6502	SO:0001819	synonymous_variant	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53015266T>C	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.1632T>C	19.37:g.53015266T>C						CTD-3099C6.5_ENST00000599143.1_RNA	p.C544C	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	1876	+			319					B4DR51|I3L1Y6	Silent	SNP	ENST00000421239.2	37	c.1632T>C	CCDS54310.1																																																																																				0.393	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		27	71	0	0	0	1	0	27	71				
CRISP1	167	broad.mit.edu	37	6	49803038	49803038	+	Silent	SNP	C	C	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr6:49803038C>T	ENST00000335847.4	-	8	842	c.741G>A	c.(739-741)gaG>gaA	p.E247E	CRISP1_ENST00000507853.1_3'UTR|CRISP1_ENST00000505118.1_Silent_p.E247E|CRISP1_ENST00000329411.5_3'UTR|CRISP1_ENST00000355791.2_Silent_p.E247E|CRISP1_ENST00000536021.1_3'UTR	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	247					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)					CCTATTTTATCTCAGTGTCAC	0.393																																						ENST00000335847.4																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27						c.(739-741)gaG>gaA		cysteine-rich secretory protein 1							187.0	175.0	179.0					6																	49803038		2203	4300	6503	SO:0001819	synonymous_variant	167				fusion of sperm to egg plasma membrane	extracellular space		g.chr6:49803038C>T	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.741G>A	6.37:g.49803038C>T						CRISP1_ENST00000329411.5_3'UTR|CRISP1_ENST00000355791.2_Silent_p.E247E|CRISP1_ENST00000505118.1_Silent_p.E247E|CRISP1_ENST00000536021.1_3'UTR|CRISP1_ENST00000507853.1_3'UTR	p.E247E	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN			8	842	-	Lung NSC(77;0.0358)		247					B5BU98|O00698|Q13248|Q14082|Q96SF6	Silent	SNP	ENST00000335847.4	37	c.741G>A	CCDS4931.1																																																																																				0.393	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	NM_001131		32	127	0	0	0	1	0	32	127				
CFHR2	3080	broad.mit.edu	37	1	196879474	196879474	+	Intron	SNP	G	G	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr1:196879474G>A	ENST00000367421.3	+	2	135				CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000367418.2_Intron|CFHR4_ENST00000608469.1_Intron|CFHR4_ENST00000367416.2_Missense_Mutation_p.R287K			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						AATACGCGTAGACCATACTTT	0.343																																						ENST00000367416.2																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						c.(859-861)aGa>aAa		complement factor H-related 4																																				SO:0001627	intron_variant	10877							g.chr1:196879474G>A	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-39111G>A	1.37:g.196879474G>A						CFHR4_ENST00000367418.1_Missense_Mutation_p.R41K|CFHR4_ENST00000251424.4_Intron|CFHR2_ENST00000367421.3_Intron	p.R287K	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1					6	997	+								Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.860G>A		.	.	.	.	.	.	.	.	.	.	.	0.024	-1.392527	0.01185	.	.	ENSG00000134365	ENST00000367416;ENST00000367418	T;T	0.38722	1.3;1.12	2.42	-2.18	0.07037	.	.	.	.	.	T	0.36441	0.0967	L	0.31420	0.93	0.09310	N	1	B;P	0.49253	0.17;0.921	B;D	0.65573	0.068;0.936	T	0.31024	-0.9958	9	0.05833	T	0.94	.	2.7634	0.05313	0.2756:0.0:0.488:0.2363	.	287;288	C9J7J7;Q5DVJ7	.;.	K	287;41	ENSP00000356386:R287K;ENSP00000356388:R41K	ENSP00000356386:R287K	R	+	2	0	CFHR4	195146097	0.001000	0.12720	0.001000	0.08648	0.021000	0.10359	0.176000	0.16782	-0.463000	0.06973	0.195000	0.17529	AGA		0.343	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		10	57	0	0	0	1	0	10	57				
PDE1B	5153	broad.mit.edu	37	12	54963106	54963106	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr12:54963106C>A	ENST00000243052.3	+	4	802	c.366C>A	c.(364-366)ttC>ttA	p.F122L	PDE1B_ENST00000538346.1_Missense_Mutation_p.F81L|PDE1B_ENST00000550620.1_Missense_Mutation_p.F102L|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	122					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)	AGCCCAAGTTCCGAAGCATTG	0.647																																						ENST00000243052.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						c.(364-366)ttC>ttA		phosphodiesterase 1B, calmodulin-dependent							58.0	60.0	59.0					12																	54963106		2203	4300	6503	SO:0001583	missense	5153				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.chr12:54963106C>A	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.366C>A	12.37:g.54963106C>A	ENSP00000243052:p.Phe122Leu					PDE1B_ENST00000550620.1_Missense_Mutation_p.F102L|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.F81L	p.F122L	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN			4	802	+			122					Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	c.366C>A	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697742	0.88830	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.71341	-0.56;-0.52;-0.51	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	0.78767	0.4335	M	0.64997	1.995	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.80764	0.989;0.994	T	0.74668	-0.3588	10	0.23302	T	0.38	.	10.153	0.42805	0.0:0.9087:0.0:0.0913	.	102;122	Q01064-2;Q01064	.;PDE1B_HUMAN	L	122;81;102	ENSP00000243052:F122L;ENSP00000442559:F81L;ENSP00000448519:F102L	ENSP00000243052:F122L	F	+	3	2	PDE1B	53249373	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.457000	0.35212	2.605000	0.88082	0.655000	0.94253	TTC		0.647	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			12	32	1	0	0.00010058	1	0.000104151	12	32				
ZNF783	100289678	broad.mit.edu	37	7	148963814	148963814	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr7:148963814C>A	ENST00000434415.1	+	2	576	c.413C>A	c.(412-414)gCc>gAc	p.A138D		NM_001195220.1	NP_001182149.1	Q6ZMS7	ZN783_HUMAN	zinc finger family member 783	138					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			AAGGGGGAGGCCCCCAAGGTA	0.652																																						ENST00000434415.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22						c.(412-414)gCc>gAc		zinc finger family member 783							74.0	89.0	84.0					7																	148963814		2203	4299	6502	SO:0001583	missense	100289678				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr7:148963814C>A	AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946		"""Zinc fingers, C2H2-type"", ""-"""	27222	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001195220		Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000434415.1:c.413C>A	7.37:g.148963814C>A	ENSP00000410890:p.Ala138Asp						p.A138D	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0014)		2	576	+	Melanoma(164;0.15)		138					C9J9J2	Missense_Mutation	SNP	ENST00000434415.1	37	c.413C>A	CCDS56519.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.773828	0.31411	.	.	ENSG00000204946	ENST00000434415	T	0.06068	3.35	4.78	-6.05	0.02172	.	1.765630	0.03884	N	0.277611	T	0.07413	0.0187	N	0.20986	0.625	0.51482	D	0.99992	.	.	.	.	.	.	T	0.27773	-1.0064	8	0.49607	T	0.09	-1.1114	11.899	0.52671	0.0:0.5445:0.0:0.4555	.	.	.	.	D	138	ENSP00000410890:A138D	ENSP00000367291:A138D	A	+	2	0	ZNF783	148594747	0.001000	0.12720	0.194000	0.23346	0.700000	0.40528	-0.272000	0.08560	-1.629000	0.01546	-0.291000	0.09656	GCC		0.652	ZNF783-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352715.1	NM_001195220		13	126	1	0	2.68362e-12	1	2.97236e-12	13	126				
POLR2E	5434	broad.mit.edu	37	19	1091820	1091820	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr19:1091820G>A	ENST00000215587.7	-	3	602	c.319C>T	c.(319-321)Cag>Tag	p.Q107*	POLR2E_ENST00000586746.1_Nonsense_Mutation_p.Q107*|POLR2E_ENST00000585838.1_5'UTR			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	107					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		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)		ATGCCCTGCTGCACCACGATG	0.652																																						ENST00000215587.7																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11						c.(319-321)Cag>Tag		polymerase (RNA) II (DNA directed) polypeptide E, 25kDa							156.0	124.0	135.0					19																	1091820		2203	4300	6503	SO:0001587	stop_gained	5434				interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III 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	g.chr19:1091820G>A		CCDS12056.1	19p13.3	2013-01-21	2002-08-29			ENSG00000099817		"""RNA polymerase subunits"""	9192	protein-coding gene	gene with protein product	"""DNA directed RNA polymerase II 23 kda polypeptide"""	180664	"""polymerase (RNA) II (DNA directed) polypeptide E (25kD)"""			8034326	Standard	NM_002695		Approved	RPB5, RPABC1, XAP4, hRPB25, hsRPB5	uc002lre.4	P19388		ENST00000215587.7:c.319C>T	19.37:g.1091820G>A	ENSP00000215587:p.Gln107*					POLR2E_ENST00000585838.1_5'UTR|POLR2E_ENST00000586746.1_Nonsense_Mutation_p.Q107*	p.Q107*			P19388	RPAB1_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	602	-		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)	107					B2R6L4|D6W5Y1|O43380|Q6PIH5|Q9BT06	Nonsense_Mutation	SNP	ENST00000215587.7	37	c.319C>T	CCDS12056.1	.	.	.	.	.	.	.	.	.	.	G	33	5.289183	0.95517	.	.	ENSG00000099817	ENST00000215587	.	.	.	3.75	3.75	0.43078	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	13.8331	14.7518	0.69530	0.0:0.0:1.0:0.0	.	.	.	.	X	107	.	ENSP00000215587:Q107X	Q	-	1	0	POLR2E	1042820	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	8.631000	0.90991	1.949000	0.56562	0.555000	0.69702	CAG		0.652	POLR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458044.1	NM_002695		11	40	0	0	0	1	0	11	40				
PTPRC	5788	broad.mit.edu	37	1	198719713	198719713	+	Silent	SNP	C	C	G			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr1:198719713C>G	ENST00000367376.2	+	29	3330	c.3159C>G	c.(3157-3159)gtC>gtG	p.V1053V	PTPRC_ENST00000442510.2_Silent_p.V1055V|PTPRC_ENST00000348564.6_Silent_p.V894V|PTPRC_ENST00000594404.1_Silent_p.V892V|PTPRC_ENST00000352140.3_Silent_p.V1005V	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1053	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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						AAAGAAAAGTCAAAGTTATTG	0.398																																						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.(3157-3159)gtC>gtG		protein tyrosine phosphatase, receptor type, C							148.0	144.0	145.0					1																	198719713		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.chr1:198719713C>G	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.3159C>G	1.37:g.198719713C>G						PTPRC_ENST00000442510.2_Silent_p.V1055V|PTPRC_ENST00000594404.1_Silent_p.V892V|PTPRC_ENST00000352140.3_Silent_p.V1005V|PTPRC_ENST00000348564.6_Silent_p.V894V	p.V1053V	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			29	3330	+			1053			Tyrosine-protein phosphatase 2.		A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37	c.3159C>G		.	.	.	.	.	.	.	.	.	.	C	4.407	0.075118	0.08485	.	.	ENSG00000081237	ENST00000535566	.	.	.	5.79	3.89	0.44902	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.7978	0.52110	0.1355:0.6255:0.239:0.0	.	.	.	.	X	755	.	ENSP00000444735:S755X	S	+	2	0	PTPRC	196986336	0.473000	0.25878	0.963000	0.40424	0.575000	0.36095	0.210000	0.17455	0.757000	0.33036	0.557000	0.71058	TCA		0.398	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				22	114	0	0	0	1	0	22	114				
CDHR3	222256	broad.mit.edu	37	7	105664841	105664841	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr7:105664841T>A	ENST00000317716.9	+	15	2171	c.2091T>A	c.(2089-2091)taT>taA	p.Y697*	CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000542731.1_Nonsense_Mutation_p.Y697*|CDHR3_ENST00000478080.1_Nonsense_Mutation_p.Y609*|CDHR3_ENST00000343407.5_Missense_Mutation_p.S200T	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	697					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						GGGTCACCTATCAGGTCCTGA	0.498																																						ENST00000542731.1																			0				breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						c.(2089-2091)taT>taA		cadherin-related family member 3							138.0	136.0	136.0					7																	105664841		2008	4173	6181	SO:0001587	stop_gained	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105664841T>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.2091T>A	7.37:g.105664841T>A	ENSP00000325954:p.Tyr697*					CDHR3_ENST00000317716.9_Nonsense_Mutation_p.Y697*|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000343407.5_Missense_Mutation_p.S200T|CDHR3_ENST00000478080.1_Nonsense_Mutation_p.Y609*	p.Y697*			Q6ZTQ4	CDHR3_HUMAN			15	2199	+			697					Q8TCI7	Nonsense_Mutation	SNP	ENST00000317716.9	37	c.2091T>A	CCDS47684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	39|39	7.813754|7.813754	0.98504|0.98504	.|.	.|.	ENSG00000128536|ENSG00000128536	ENST00000343407;ENST00000466045|ENST00000542731;ENST00000317716;ENST00000478080	T;T|.	0.55760|.	0.5;0.5|.	5.65|5.65	4.77|4.77	0.60923|0.60923	.|.	.|0.397666	.|0.24191	.|N	.|0.040706	T|.	0.13500|.	0.0327|.	.|.	.|.	.|.	0.21950|0.21950	N|N	0.999457|0.999457	B|.	0.16603|.	0.018|.	B|.	0.17979|.	0.02|.	T|.	0.28713|.	-1.0035|.	8|.	0.49607|0.02654	T|T	0.09|1	-10.3428|-10.3428	7.8448|7.8448	0.29419|0.29419	0.0:0.7782:0.0:0.2218|0.0:0.7782:0.0:0.2218	.|.	198|.	Q6ZTQ4-2|.	.|.	T|X	200;239|697;697;609	ENSP00000341510:S200T;ENSP00000419017:S239T|.	ENSP00000341510:S200T|ENSP00000325954:Y697X	S|Y	+|+	1|3	0|2	CDHR3|CDHR3	105452077|105452077	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.891000|0.891000	0.51852|0.51852	0.809000|0.809000	0.27168|0.27168	1.391000|1.391000	0.46566|0.46566	-0.132000|-0.132000	0.14878|0.14878	TCA|TAT		0.498	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		4	20	0	0	0	1	0	4	20				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				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)		p.S168S(5)		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)		tgctgctgctgctactgctgc	0.537			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		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	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.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>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.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S168S	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	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	72	0	0	0	1	0	5	72				
HACL1	26061	broad.mit.edu	37	3	15637898	15637898	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr3:15637898T>C	ENST00000321169.5	-	3	587	c.220A>G	c.(220-222)Aca>Gca	p.T74A	HACL1_ENST00000451445.2_Missense_Mutation_p.T74A|HACL1_ENST00000456194.2_Missense_Mutation_p.T74A|HACL1_ENST00000435217.2_Intron|HACL1_ENST00000457447.2_Missense_Mutation_p.T74A	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	74					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976)			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						TACCTGCTTGTCAGATATCCA	0.373																																						ENST00000321169.5																			0				NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						c.(220-222)Aca>Gca		2-hydroxyacyl-CoA lyase 1							74.0	66.0	69.0					3																	15637898		2203	4300	6503	SO:0001583	missense	26061				fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding	g.chr3:15637898T>C	AJ131753	CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1	3p24.3	2009-01-14	2006-05-16	2006-05-16	ENSG00000131373	ENSG00000131373	4.1.-.-		17856	protein-coding gene	gene with protein product		604300	"""2-hydroxyphytanoyl-CoA lyase"""	HPCL		10468558, 15644336	Standard	NM_001284416		Approved	2-HPCL, PHYH2	uc003caf.3	Q9UJ83	OTTHUMG00000129862	ENST00000321169.5:c.220A>G	3.37:g.15637898T>C	ENSP00000323811:p.Thr74Ala					HACL1_ENST00000456194.2_Missense_Mutation_p.T74A|HACL1_ENST00000435217.2_Intron|HACL1_ENST00000451445.2_Missense_Mutation_p.T74A|HACL1_ENST00000457447.2_Missense_Mutation_p.T74A	p.T74A	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN			3	587	-			74					B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	Missense_Mutation	SNP	ENST00000321169.5	37	c.220A>G	CCDS2627.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.456760	0.84317	.	.	ENSG00000131373	ENST00000321169;ENST00000451445;ENST00000456194;ENST00000457447;ENST00000421993	T;T;T;T	0.53640	1.17;1.17;1.33;0.61	5.71	5.71	0.89125	Thiamine pyrophosphate enzyme, N-terminal TPP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.76681	0.4021	H	0.94222	3.51	0.80722	D	1	P;D;D;D	0.76494	0.953;0.995;0.999;0.995	D;D;D;D	0.71414	0.928;0.956;0.973;0.956	D	0.83807	0.0239	10	0.87932	D	0	.	15.0202	0.71624	0.0:0.0:0.0:1.0	.	74;74;74;74	B4DXI5;E9PEN4;B4DWI1;Q9UJ83	.;.;.;HACL1_HUMAN	A	74	ENSP00000323811:T74A;ENSP00000403656:T74A;ENSP00000390699:T74A;ENSP00000404883:T74A	ENSP00000323811:T74A	T	-	1	0	HACL1	15612902	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.625000	0.74248	2.190000	0.69967	0.529000	0.55759	ACA		0.373	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252104.3	NM_012260		12	17	0	0	0	1	0	12	17				
DNAI1	27019	broad.mit.edu	37	9	34517452	34517452	+	Missense_Mutation	SNP	G	G	A	rs150107677		TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr9:34517452G>A	ENST00000242317.4	+	19	2159	c.1988G>A	c.(1987-1989)cGc>cAc	p.R663H		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	663					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CCCAATTTGCGCAAGATGCCA	0.552									Kartagener syndrome																													ENST00000242317.4																			0				autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34						c.(1987-1989)cGc>cAc		dynein, axonemal, intermediate chain 1		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	119.0	95.0	103.0		1988	5.6	1.0	9	dbSNP_134	103	0,8600		0,0,4300	no	missense	DNAI1	NM_012144.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	663/700	34517452	1,13005	2203	4300	6503	SO:0001583	missense	27019	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34517452G>A	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.1988G>A	9.37:g.34517452G>A	ENSP00000242317:p.Arg663His						p.R663H	NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	19	2159	+	all_epithelial(49;0.244)		663					B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	c.1988G>A	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	G	32	5.131477	0.94473	2.27E-4	0.0	ENSG00000122735	ENST00000242317	T	0.78595	-1.19	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.89979	0.6872	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	D	0.91568	0.5269	10	0.72032	D	0.01	.	16.3744	0.83381	0.0:0.0:1.0:0.0	.	663	Q9UI46	DNAI1_HUMAN	H	663	ENSP00000242317:R663H	ENSP00000242317:R663H	R	+	2	0	DNAI1	34507452	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.168000	0.94781	2.651000	0.90000	0.561000	0.74099	CGC		0.552	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			5	43	0	0	0	1	0	5	43				
NACAP1	83955	broad.mit.edu	37	8	102381677	102381677	+	RNA	SNP	G	G	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr8:102381677G>T	ENST00000419462.1	+	0	1089					NR_002182.1		Q9BZK3	NACP1_HUMAN	nascent-polypeptide-associated complex alpha polypeptide pseudogene 1																		TAAGGATATAGAATTGGTCCT	0.408																																						ENST00000419462.1																			0																																																			83955							g.chr8:102381677G>T	AF315951		8q22.3	2007-04-20				ENSG00000228224			24688	pseudogene	pseudogene							Standard	NR_002182		Approved	FKSG17	uc003ykc.1	Q9BZK3			8.37:g.102381677G>T								NR_002182.1						0	1089	+									RNA	SNP	ENST00000419462.1	37																																																																																						0.408	NACAP1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000380521.1	NR_002182		31	48	1	0	3.99451e-17	1	4.48102e-17	31	48				
SCN3A	6328	broad.mit.edu	37	2	166003509	166003509	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr2:166003509C>G	ENST00000360093.3	-	12	1902	c.1411G>C	c.(1411-1413)Gat>Cat	p.D471H	SCN3A_ENST00000283254.7_Missense_Mutation_p.D471H|RN7SL455P_ENST00000580629.1_RNA|SCN3A_ENST00000409101.3_Missense_Mutation_p.D471H	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	471					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)	CCACTGAAATCTCTTGAAGCA	0.418																																						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.(1411-1413)Gat>Cat		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						66.0	73.0	71.0					2																	166003509		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166003509C>G	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.1411G>C	2.37:g.166003509C>G	ENSP00000353206:p.Asp471His					SCN3A_ENST00000409101.3_Missense_Mutation_p.D471H|SCN3A_ENST00000283254.7_Missense_Mutation_p.D471H	p.D471H	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			12	1902	-			471					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.1411G>C		.	.	.	.	.	.	.	.	.	.	C	22.7	4.324672	0.81580	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.96396	-4.0;-4.0;-3.97;-3.84	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000003	D	0.95220	0.8450	L	0.40543	1.245	0.80722	D	1	P;P;P;P;P	0.44195	0.736;0.736;0.828;0.828;0.828	B;B;P;P;P	0.45138	0.28;0.28;0.471;0.471;0.471	D	0.95247	0.8356	10	0.59425	D	0.04	.	19.922	0.97089	0.0:1.0:0.0:0.0	.	471;471;471;471;471	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	H	471	ENSP00000353206:D471H;ENSP00000283254:D471H;ENSP00000386726:D471H;ENSP00000403348:D471H	ENSP00000283254:D471H	D	-	1	0	SCN3A	165711755	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	7.445000	0.80570	2.780000	0.95670	0.655000	0.94253	GAT		0.418	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		16	51	0	0	0	1	0	16	51				
BOD1L1	259282	broad.mit.edu	37	4	13606242	13606242	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr4:13606242G>C	ENST00000040738.5	-	10	2417	c.2282C>G	c.(2281-2283)tCt>tGt	p.S761C		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	761	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										TTTCTCAGAAGAGTGAAGCTC	0.343																																						ENST00000040738.5																			0											c.(2281-2283)tCt>tGt		biorientation of chromosomes in cell division 1-like 1							92.0	82.0	85.0					4																	13606242		2202	4300	6502	SO:0001583	missense	259282						DNA binding	g.chr4:13606242G>C	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.2282C>G	4.37:g.13606242G>C	ENSP00000040738:p.Ser761Cys						p.S761C	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	2417	-			761			Lys-rich.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.2282C>G	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381557	0.42207	.	.	ENSG00000038219	ENST00000040738	T	0.10099	2.91	5.34	4.5	0.54988	.	0.355278	0.20761	N	0.086163	T	0.12987	0.0315	L	0.32530	0.975	0.19775	N	0.999957	D	0.58620	0.983	P	0.50231	0.635	T	0.07309	-1.0779	10	0.66056	D	0.02	-0.1347	8.81	0.34961	0.0758:0.0:0.7752:0.1491	.	761	Q8NFC6	BOD1L_HUMAN	C	761	ENSP00000040738:S761C	ENSP00000040738:S761C	S	-	2	0	BOD1L	13215340	0.227000	0.23707	0.784000	0.31847	0.892000	0.51952	2.493000	0.45320	1.260000	0.44134	0.563000	0.77884	TCT		0.343	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		3	28	0	0	0	1	0	3	28				
ASH1L	55870	broad.mit.edu	37	1	155408358	155408358	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr1:155408358G>C	ENST00000368346.3	-	5	6227	c.5588C>G	c.(5587-5589)tCa>tGa	p.S1863*	ASH1L_ENST00000392403.3_Nonsense_Mutation_p.S1863*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1863					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGCTTGCATTGATACGACAGC	0.488																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(5587-5589)tCa>tGa		ash1 (absent, small, or homeotic)-like (Drosophila)							141.0	136.0	137.0					1																	155408358		2203	4300	6503	SO:0001587	stop_gained	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155408358G>C	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.5588C>G	1.37:g.155408358G>C	ENSP00000357330:p.Ser1863*					ASH1L_ENST00000392403.3_Nonsense_Mutation_p.S1863*	p.S1863*			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		5	6227	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1863					Q59GP1|Q5T714|Q5T715|Q9P2C7	Nonsense_Mutation	SNP	ENST00000368346.3	37	c.5588C>G		.	.	.	.	.	.	.	.	.	.	G	50	16.426811	0.99863	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	.	.	.	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	16.9999	0.86378	0.0:0.0:1.0:0.0	.	.	.	.	X	1863	.	ENSP00000357330:S1863X	S	-	2	0	ASH1L	153674982	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	6.051000	0.71072	2.791000	0.96007	0.655000	0.94253	TCA		0.488	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		26	130	0	0	0	1	0	26	130				
TPH2	121278	broad.mit.edu	37	12	72366470	72366470	+	Silent	SNP	C	C	G			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr12:72366470C>G	ENST00000333850.3	+	6	921	c.780C>G	c.(778-780)ctC>ctG	p.L260L		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	260					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|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)	p.L260L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TGCCTCAACTCGAAGATGTCT	0.438																																						ENST00000333850.3																			1	Substitution - coding silent(1)	p.L260L(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41						c.(778-780)ctC>ctG		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						226.0	225.0	226.0					12																	72366470		2203	4300	6503	SO:0001819	synonymous_variant	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72366470C>G	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.780C>G	12.37:g.72366470C>G							p.L260L	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN			6	921	+			260					A6NGA4|Q14CB0	Silent	SNP	ENST00000333850.3	37	c.780C>G	CCDS31859.1																																																																																				0.438	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		58	185	0	0	0	1	0	58	185				
NRD1	4898	broad.mit.edu	37	1	52281983	52281983	+	Splice_Site	SNP	C	C	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr1:52281983C>T	ENST00000354831.7	-	13	1833		c.e13+1		NRD1_ENST00000544028.1_Splice_Site|NRD1_ENST00000539524.1_Splice_Site|NRD1_ENST00000352171.7_Splice_Site|NRD1_ENST00000485608.1_Splice_Site	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)						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						TGAATACTTGCTTTTTCCTAA	0.323																																						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.e13+1		nardilysin (N-arginine dibasic convertase)							52.0	57.0	55.0					1																	52281983		2203	4296	6499	SO:0001630	splice_region_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.chr1:52281983C>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.1643+1G>A	1.37:g.52281983C>T						NRD1_ENST00000352171.7_Splice_Site|NRD1_ENST00000544028.1_Splice_Site|NRD1_ENST00000539524.1_Splice_Site|NRD1_ENST00000485608.1_Splice_Site		NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			13	1833	-								A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Splice_Site	SNP	ENST00000354831.7	37		CCDS559.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654017	0.88056	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4678	0.94950	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NRD1	52054571	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.228000	0.78079	2.767000	0.95098	0.563000	0.77884	.		0.323	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525	Intron	14	55	0	0	0	1	0	14	55				
RNF10	9921	broad.mit.edu	37	12	121009002	121009002	+	Silent	SNP	C	C	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr12:121009002C>T	ENST00000325954.4	+	14	2511	c.2050C>T	c.(2050-2052)Ctg>Ttg	p.L684L	RNF10_ENST00000413266.2_Silent_p.L689L|RNF10_ENST00000542701.1_Intron	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	684					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGACTTTCTGCTGACCCCTCT	0.527																																						ENST00000325954.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27						c.(2050-2052)Ctg>Ttg		ring finger protein 10							118.0	103.0	109.0					12																	121009002		2203	4300	6503	SO:0001819	synonymous_variant	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:121009002C>T	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.2050C>T	12.37:g.121009002C>T						RNF10_ENST00000542701.1_Intron|RNF10_ENST00000413266.2_Silent_p.L689L	p.L684L	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN			14	2511	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		684					Q92550|Q9NPP8|Q9ULW4	Silent	SNP	ENST00000325954.4	37	c.2050C>T	CCDS9201.1																																																																																				0.527	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			18	49	0	0	0	1	0	18	49				
FLT4	2324	broad.mit.edu	37	5	180057035	180057035	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr5:180057035G>A	ENST00000261937.6	-	5	662	c.584C>T	c.(583-585)aCg>aTg	p.T195M	FLT4_ENST00000393347.3_Missense_Mutation_p.T195M|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.T195M	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	195	Ig-like C2-type 2.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|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 JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|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)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|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)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGCAGTGGCGTGGACACGAG	0.627																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(583-585)aCg>aTg		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						90.0	78.0	82.0					5																	180057035		2202	4297	6499	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180057035G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.584C>T	5.37:g.180057035G>A	ENSP00000261937:p.Thr195Met					FLT4_ENST00000393347.3_Missense_Mutation_p.T195M|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.T195M	p.T195M	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	5	662	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	195			Ig-like C2-type 2.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.584C>T	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.563835	0.27915	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.04862	3.54;3.54;3.54	5.16	4.14	0.48551	Immunoglobulin-like fold (1);	.	.	.	.	T	0.19046	0.0457	M	0.65975	2.015	0.28904	N	0.893116	D;D;D;D	0.76494	0.999;0.995;0.993;0.993	P;P;P;P	0.62382	0.847;0.901;0.882;0.882	T	0.02263	-1.1186	9	0.51188	T	0.08	.	10.969	0.47428	0.1051:0.0:0.8949:0.0	.	195;195;195;195	B5A927;P35916-3;E9PD35;P35916	.;.;.;VGFR3_HUMAN	M	195;195;195;5	ENSP00000261937:T195M;ENSP00000377016:T195M;ENSP00000426057:T195M	ENSP00000261937:T195M	T	-	2	0	FLT4	179989641	0.892000	0.30473	0.147000	0.22382	0.007000	0.05969	1.679000	0.37597	1.209000	0.43321	0.561000	0.74099	ACG		0.627	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			31	31	0	0	0	1	0	31	31				
XRN1	54464	broad.mit.edu	37	3	142133018	142133018	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr3:142133018G>C	ENST00000264951.4	-	14	1669	c.1552C>G	c.(1552-1554)Ctt>Gtt	p.L518V	XRN1_ENST00000392981.2_Missense_Mutation_p.L518V	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	518					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						GCTGCTGGAAGTACAGCAAGA	0.378																																						ENST00000264951.4																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(1552-1554)Ctt>Gtt		5'-3' exoribonuclease 1							128.0	125.0	126.0					3																	142133018		2203	4300	6503	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142133018G>C	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.1552C>G	3.37:g.142133018G>C	ENSP00000264951:p.Leu518Val					XRN1_ENST00000392981.2_Missense_Mutation_p.L518V	p.L518V	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN			14	1669	-			518					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.1552C>G	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035627	0.75617	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.74737	-0.87;-0.87	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.88727	0.6515	M	0.92219	3.285	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.992;0.999;0.998	D	0.90813	0.4703	10	0.87932	D	0	-21.7488	13.5434	0.61688	0.0751:0.0:0.9249:0.0	.	379;518;518	B3KW17;Q8IZH2-2;Q8IZH2	.;.;XRN1_HUMAN	V	518	ENSP00000264951:L518V;ENSP00000376707:L518V	ENSP00000264951:L518V	L	-	1	0	XRN1	143615708	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.242000	0.78210	2.636000	0.89361	0.650000	0.86243	CTT		0.378	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		21	110	0	0	0	1	0	21	110				
KMT2C	58508	broad.mit.edu	37	7	151878682	151878682	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr7:151878682T>C	ENST00000262189.6	-	36	6481	c.6263A>G	c.(6262-6264)aAt>aGt	p.N2088S	KMT2C_ENST00000355193.2_Missense_Mutation_p.N2088S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2088	Pro-rich.				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)										ATTTGACTGATTATGAGAAAA	0.453																																						ENST00000355193.2																			0											c.(6262-6264)aAt>aGt		lysine (K)-specific methyltransferase 2C							77.0	78.0	78.0					7																	151878682		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151878682T>C	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.6263A>G	7.37:g.151878682T>C	ENSP00000262189:p.Asn2088Ser					KMT2C_ENST00000262189.6_Missense_Mutation_p.N2088S	p.N2088S							36	6481	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.6263A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	4.569	0.105694	0.08780	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.51071	0.72;0.72	5.52	-6.93	0.01638	.	0.665331	0.12659	N	0.449795	T	0.30823	0.0777	L	0.35723	1.085	0.09310	N	0.999995	B;B	0.09022	0.0;0.002	B;B	0.12156	0.002;0.007	T	0.42632	-0.9440	10	0.07644	T	0.81	.	16.6787	0.85286	0.0:0.4658:0.0:0.5342	.	2088;1149	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	S	2088	ENSP00000262189:N2088S;ENSP00000347325:N2088S	ENSP00000262189:N2088S	N	-	2	0	MLL3	151509615	0.000000	0.05858	0.039000	0.18376	0.766000	0.43426	-0.355000	0.07671	-1.297000	0.02351	-1.423000	0.01107	AAT		0.453	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			12	46	0	0	0	1	0	12	46				
PQLC1	80148	broad.mit.edu	37	18	77679290	77679290	+	Missense_Mutation	SNP	C	C	T	rs114579767	byFrequency	TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr18:77679290C>T	ENST00000397778.2	-	5	684	c.502G>A	c.(502-504)Gcc>Acc	p.A168T	PQLC1_ENST00000409073.1_Missense_Mutation_p.A85T|PQLC1_ENST00000590381.1_Intron|PQLC1_ENST00000357575.4_Missense_Mutation_p.A150T	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	168						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		ACAAACAGGGCGGAGTCAATG	0.637													C|||	12	0.00239617	0.0	0.0	5008	,	,		18621	0.0119		0.0	False		,,,				2504	0.0					ENST00000397778.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9						c.(502-504)Gcc>Acc		PQ loop repeat containing 1							92.0	76.0	82.0					18																	77679290		2203	4300	6503	SO:0001583	missense	80148					integral to membrane		g.chr18:77679290C>T	AK123870	CCDS12020.1, CCDS54192.1, CCDS54193.1	18q23	2004-01-14			ENSG00000122490	ENSG00000122490			26188	protein-coding gene	gene with protein product						12477932	Standard	NM_025078		Approved	FLJ22378	uc002lnl.2	Q8N2U9	OTTHUMG00000132921	ENST00000397778.2:c.502G>A	18.37:g.77679290C>T	ENSP00000380880:p.Ala168Thr					PQLC1_ENST00000409073.1_Missense_Mutation_p.A85T|PQLC1_ENST00000357575.4_Missense_Mutation_p.A150T|PQLC1_ENST00000590381.1_Intron	p.A168T	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)	5	684	-		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)	168					B7Z7D9|G5E989|Q9H6D0	Missense_Mutation	SNP	ENST00000397778.2	37	c.502G>A	CCDS12020.1	5	0.0022893772893772895	1	0.0020325203252032522	0	0.0	4	0.006993006993006993	0	0.0	C	3.293	-0.144554	0.06627	.	.	ENSG00000122490	ENST00000397778;ENST00000409073;ENST00000357575	.	.	.	5.1	1.29	0.21616	.	0.480640	0.22651	N	0.057321	T	0.15262	0.0368	N	0.20845	0.615	0.09310	N	1	B;B	0.14438	0.002;0.01	B;B	0.09377	0.001;0.004	T	0.17684	-1.0361	9	0.14656	T	0.56	-18.0284	6.1784	0.20457	0.1333:0.5624:0.0:0.3043	.	168;150	Q8N2U9;G5E989	PQLC1_HUMAN;.	T	168;85;150	.	ENSP00000350188:A150T	A	-	1	0	PQLC1	75780278	0.002000	0.14202	0.992000	0.48379	0.485000	0.33311	0.617000	0.24359	0.182000	0.20032	-0.940000	0.02684	GCC		0.637	PQLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256434.1	NM_025078		4	42	0	0	0	1	0	4	42				
PLEC	5339	broad.mit.edu	37	8	145001012	145001012	+	Silent	SNP	T	T	C	rs535828050		TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr8:145001012T>C	ENST00000322810.4	-	30	4564	c.4395A>G	c.(4393-4395)acA>acG	p.T1465T	PLEC_ENST00000357649.2_Silent_p.T1332T|PLEC_ENST00000356346.3_Silent_p.T1314T|PLEC_ENST00000345136.3_Silent_p.T1328T|PLEC_ENST00000398774.2_Silent_p.T1296T|PLEC_ENST00000354958.2_Silent_p.T1306T|PLEC_ENST00000527096.1_Silent_p.T1351T|PLEC_ENST00000354589.3_Silent_p.T1328T|PLEC_ENST00000436759.2_Silent_p.T1355T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1465	Globular 1.				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						GGCTCGTCAGTGTGGTCAGCT	0.627													T|||	1	0.000199681	0.0	0.0	5008	,	,		14918	0.001		0.0	False		,,,				2504	0.0					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.(4393-4395)acA>acG		plectin							104.0	117.0	112.0					8																	145001012		2168	4264	6432	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145001012T>C	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.4395A>G	8.37:g.145001012T>C						PLEC_ENST00000354958.2_Silent_p.T1306T|PLEC_ENST00000356346.3_Silent_p.T1314T|PLEC_ENST00000357649.2_Silent_p.T1332T|PLEC_ENST00000398774.2_Silent_p.T1296T|PLEC_ENST00000345136.3_Silent_p.T1328T|PLEC_ENST00000527096.1_Silent_p.T1351T|PLEC_ENST00000354589.3_Silent_p.T1328T|PLEC_ENST00000436759.2_Silent_p.T1355T	p.T1465T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			30	4564	-			1465			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.4395A>G	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	T	8.453	0.853554	0.17106	.	.	ENSG00000178209	ENST00000527303	.	.	.	4.85	-9.7	0.00521	.	.	.	.	.	T	0.35422	0.0931	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42498	-0.9448	4	.	.	.	.	3.9346	0.09301	0.1541:0.2755:0.0825:0.4879	.	.	.	.	R	25	.	.	H	-	2	0	PLEC	145073000	0.000000	0.05858	0.309000	0.25155	0.712000	0.41017	-3.678000	0.00395	-1.918000	0.01072	-0.659000	0.03860	CAC		0.627	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		6	61	0	0	0	1	0	6	61				
NPHS1	4868	broad.mit.edu	37	19	36342482	36342482	+	Silent	SNP	G	G	A	rs114385015	byFrequency	TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr19:36342482G>A	ENST00000378910.5	-	2	150	c.151C>T	c.(151-153)Ctg>Ttg	p.L51L	NPHS1_ENST00000353632.6_Silent_p.L51L|NPHS1_ENST00000591817.1_5'Flank	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	51	Ig-like C2-type 1.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCACAACGCAGCTCCACTGAG	0.682													G|||	28	0.00559105	0.0008	0.0	5008	,	,		15715	0.0179		0.0	False		,,,				2504	0.0092					ENST00000378910.5																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(151-153)Ctg>Ttg		nephrosis 1, congenital, Finnish type (nephrin)		G		4,4400		0,4,2198	20.0	22.0	21.0		151	-0.6	0.0	19	dbSNP_132	21	3,8591		0,3,4294	no	coding-synonymous	NPHS1	NM_004646.3		0,7,6492	AA,AG,GG		0.0349,0.0908,0.0539		51/1242	36342482	7,12991	2202	4297	6499	SO:0001819	synonymous_variant	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36342482G>A		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.151C>T	19.37:g.36342482G>A						NPHS1_ENST00000353632.6_Silent_p.L51L	p.L51L	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		2	150	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		51			Ig-like C2-type 1.		A6NDH2|C3RX61	Silent	SNP	ENST00000378910.5	37	c.151C>T	CCDS32996.1																																																																																				0.682	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			5	30	0	0	0	1	0	5	30				
PTPRD	5789	broad.mit.edu	37	9	8436642	8436642	+	Missense_Mutation	SNP	T	T	G	rs373554730		TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr9:8436642T>G	ENST00000381196.4	-	32	4579	c.4036A>C	c.(4036-4038)Att>Ctt	p.I1346L	PTPRD_ENST00000397617.3_Missense_Mutation_p.I939L|PTPRD_ENST00000360074.4_Missense_Mutation_p.I1333L|PTPRD_ENST00000486161.1_Missense_Mutation_p.I939L|PTPRD_ENST00000355233.5_Missense_Mutation_p.I940L|PTPRD_ENST00000540109.1_Missense_Mutation_p.I1346L|PTPRD_ENST00000356435.5_Missense_Mutation_p.I1346L|PTPRD_ENST00000397606.3_Missense_Mutation_p.I939L|PTPRD_ENST00000397611.3_Missense_Mutation_p.I936L|PTPRD_ENST00000537002.1_Missense_Mutation_p.I936L|PTPRD_ENST00000358503.5_Missense_Mutation_p.I1324L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1346					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)		AATCTTTCAATGTGGTCTGCA	0.348										TSP Lung(15;0.13)			T|||	1	0.000199681	0.0	0.0	5008	,	,		17096	0.001		0.0	False		,,,				2504	0.0					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.(4036-4038)Att>Ctt		protein tyrosine phosphatase, receptor type, D							152.0	150.0	151.0					9																	8436642		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8436642T>G	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.4036A>C	9.37:g.8436642T>G	ENSP00000370593:p.Ile1346Leu	TSP Lung(15;0.13)				PTPRD_ENST00000540109.1_Missense_Mutation_p.I1346L|PTPRD_ENST00000360074.4_Missense_Mutation_p.I1333L|PTPRD_ENST00000358503.5_Missense_Mutation_p.I1324L|PTPRD_ENST00000486161.1_Missense_Mutation_p.I939L|PTPRD_ENST00000356435.5_Missense_Mutation_p.I1346L|PTPRD_ENST00000355233.5_Missense_Mutation_p.I940L|PTPRD_ENST00000397606.3_Missense_Mutation_p.I939L|PTPRD_ENST00000397611.3_Missense_Mutation_p.I936L|PTPRD_ENST00000397617.3_Missense_Mutation_p.I939L|PTPRD_ENST00000537002.1_Missense_Mutation_p.I936L	p.I1346L	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)	32	4579	-		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)	1346					B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.4036A>C	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	T	15.09	2.730043	0.48939	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63	6.03	6.03	0.97812	.	0.178577	0.49305	D	0.000144	T	0.34250	0.0891	L	0.56396	1.775	0.58432	D	0.999996	B;B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.0;0.0;0.001;0.0;0.0	B;B;B;B;B;B;B;B;B	0.23574	0.0;0.0;0.0;0.0;0.01;0.001;0.047;0.001;0.006	T	0.07927	-1.0747	9	.	.	.	.	16.5602	0.84551	0.0:0.0:0.0:1.0	.	939;930;939;940;936;936;1333;1346;1346	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	L	1346;1346;1333;1324;940;939;936;936;817;1346;939;939	ENSP00000370593:I1346L;ENSP00000348812:I1346L;ENSP00000353187:I1333L;ENSP00000351293:I1324L;ENSP00000347373:I940L;ENSP00000380741:I939L;ENSP00000380735:I936L;ENSP00000440515:I936L;ENSP00000438164:I1346L;ENSP00000417093:I939L;ENSP00000380731:I939L	.	I	-	1	0	PTPRD	8426642	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.893000	0.48633	2.313000	0.78055	0.454000	0.30748	ATT		0.348	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			4	55	0	0	0	1	0	4	55				
POU2F2	5452	broad.mit.edu	37	19	42600296	42600296	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr19:42600296C>T	ENST00000526816.2	-	8	616	c.601G>A	c.(601-603)Gag>Aag	p.E201K	POU2F2_ENST00000342301.4_Missense_Mutation_p.E201K|POU2F2_ENST00000529067.1_Missense_Mutation_p.E185K|POU2F2_ENST00000533720.1_Missense_Mutation_p.E185K|POU2F2_ENST00000389341.5_Missense_Mutation_p.E185K|POU2F2_ENST00000560398.1_Missense_Mutation_p.E207K|POU2F2_ENST00000560558.1_Missense_Mutation_p.E146K|POU2F2_ENST00000529952.1_Missense_Mutation_p.E201K			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	201	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	TCCAGCTCCTCCAGATCACTG	0.687																																						ENST00000389341.5																			0				kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(553-555)Gag>Aag		POU class 2 homeobox 2							50.0	47.0	48.0					19																	42600296		2203	4300	6503	SO:0001583	missense	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42600296C>T		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.601G>A	19.37:g.42600296C>T	ENSP00000431603:p.Glu201Lys					POU2F2_ENST00000529067.1_Missense_Mutation_p.E185K|POU2F2_ENST00000526816.2_Missense_Mutation_p.E201K|POU2F2_ENST00000342301.4_Missense_Mutation_p.E201K|POU2F2_ENST00000560558.1_Missense_Mutation_p.E146K|POU2F2_ENST00000560398.1_Missense_Mutation_p.E207K|POU2F2_ENST00000533720.1_Missense_Mutation_p.E185K|POU2F2_ENST00000529952.1_Missense_Mutation_p.E201K	p.E185K	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN			8	619	-		Prostate(69;0.059)	201					Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	ENST00000526816.2	37	c.553G>A	CCDS56095.1	.	.	.	.	.	.	.	.	.	.	C	36	5.811606	0.96975	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952	D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71	4.47	4.47	0.54385	POU-specific (3);Lambda repressor-like, DNA-binding (2);	0.000000	0.64402	D	0.000001	D	0.86485	0.5944	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;0.992;1.0	D;D;D	0.91635	0.999;0.987;0.999	D	0.87270	0.2285	10	0.52906	T	0.07	.	16.4364	0.83877	0.0:1.0:0.0:0.0	.	185;201;185	P09086-4;P09086;P09086-3	.;PO2F2_HUMAN;.	K	185;201;201;185;200;185;201	ENSP00000373992:E185K;ENSP00000339369:E201K;ENSP00000437221:E185K;ENSP00000437224:E185K;ENSP00000436988:E201K	ENSP00000292077:E201K	E	-	1	0	POU2F2	47292136	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.530000	0.81962	2.481000	0.83766	0.650000	0.86243	GAG		0.687	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3			10	16	0	0	0	1	0	10	16				
RAVER2	55225	broad.mit.edu	37	1	65270776	65270776	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr1:65270776G>C	ENST00000294428.3	+	8	1477	c.1399G>C	c.(1399-1401)Gaa>Caa	p.E467Q	RAVER2_ENST00000371072.4_Missense_Mutation_p.E454Q|RAVER2_ENST00000430964.2_Intron			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	467						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TCATCATGGAGAAGCACATAA	0.403																																						ENST00000294428.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.(1399-1401)Gaa>Caa		ribonucleoprotein, PTB-binding 2							85.0	83.0	84.0					1																	65270776		1868	4098	5966	SO:0001583	missense	55225					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:65270776G>C	AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"""RNA binding motif (RRM) containing"""	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.1399G>C	1.37:g.65270776G>C	ENSP00000294428:p.Glu467Gln					RAVER2_ENST00000430964.2_Intron|RAVER2_ENST00000371072.4_Missense_Mutation_p.E454Q	p.E467Q			Q9HCJ3	RAVR2_HUMAN			8	1477	+			467					Q6P141|Q9NPV7	Missense_Mutation	SNP	ENST00000294428.3	37	c.1399G>C		.	.	.	.	.	.	.	.	.	.	G	16.06	3.015059	0.54468	.	.	ENSG00000162437	ENST00000371072;ENST00000294428	T;T	0.38560	1.16;1.13	5.28	5.28	0.74379	.	0.229124	0.42053	D	0.000761	T	0.47021	0.1423	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.25433	-1.0132	10	0.13108	T	0.6	.	17.0561	0.86534	0.0:0.0:1.0:0.0	.	454	Q9HCJ3-2	.	Q	454;467	ENSP00000360112:E454Q;ENSP00000294428:E467Q	ENSP00000294428:E467Q	E	+	1	0	RAVER2	65043364	1.000000	0.71417	1.000000	0.80357	0.499000	0.33736	5.883000	0.69721	2.617000	0.88574	0.643000	0.83706	GAA		0.403	RAVER2-201	KNOWN	basic	protein_coding	protein_coding		NM_018211		8	33	0	0	0	1	0	8	33				
PARP4	143	broad.mit.edu	37	13	25074496	25074496	+	Missense_Mutation	SNP	G	G	A	rs199585627		TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr13:25074496G>A	ENST00000381989.3	-	4	464	c.359C>T	c.(358-360)cCg>cTg	p.P120L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	120					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GGCACTGTCCGGGCATAGACC	0.393																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(358-360)cCg>cTg		poly (ADP-ribose) polymerase family, member 4							116.0	110.0	112.0					13																	25074496		2203	4300	6503	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25074496G>A	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.359C>T	13.37:g.25074496G>A	ENSP00000371419:p.Pro120Leu						p.P120L	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	4	464	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	120					O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.359C>T	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.781598	0.00634	.	.	ENSG00000102699	ENST00000381989	T	0.39787	1.06	3.38	-2.63	0.06133	.	2.203020	0.02465	N	0.086977	T	0.12817	0.0311	N	0.00686	-1.255	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.10382	-1.0632	10	0.20519	T	0.43	-1.2402	3.6527	0.08209	0.5991:0.0:0.2397:0.1611	.	120	Q9UKK3	PARP4_HUMAN	L	120	ENSP00000371419:P120L	ENSP00000371419:P120L	P	-	2	0	PARP4	23972496	0.444000	0.25649	0.075000	0.20258	0.005000	0.04900	-0.289000	0.08365	-0.423000	0.07394	-1.433000	0.01084	CCG		0.393	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		15	34	0	0	0	1	0	15	34				
BAIAP3	8938	broad.mit.edu	37	16	1395034	1395034	+	Missense_Mutation	SNP	C	C	T	rs374379669		TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr16:1395034C>T	ENST00000324385.5	+	21	2137	c.1979C>T	c.(1978-1980)tCg>tTg	p.S660L	BAIAP3_ENST00000397488.2_Missense_Mutation_p.S642L|BAIAP3_ENST00000397489.1_Missense_Mutation_p.S642L|BAIAP3_ENST00000568887.1_Missense_Mutation_p.S597L|BAIAP3_ENST00000421665.2_Missense_Mutation_p.S589L|BAIAP3_ENST00000426824.3_Missense_Mutation_p.S625L|BAIAP3_ENST00000562208.1_Missense_Mutation_p.S602L	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	660					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)				GAGGTGGCCTCGGGGCTCTTT	0.647																																						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.(1978-1980)tCg>tTg		BAI1-associated protein 3		C	LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,4398		0,0,2199	57.0	59.0	59.0		1979,1790,1805,1874,1766	2.4	0.2	16		59	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense,missense	BAIAP3	NM_003933.4,NM_001199099.1,NM_001199098.1,NM_001199097.1,NM_001199096.1	145,145,145,145,145	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	660/1188,597/1125,602/1130,625/1153,589/1117	1395034	1,12995	2199	4299	6498	SO:0001583	missense	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1395034C>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.1979C>T	16.37:g.1395034C>T	ENSP00000324510:p.Ser660Leu					BAIAP3_ENST00000568887.1_Missense_Mutation_p.S597L|BAIAP3_ENST00000562208.1_Missense_Mutation_p.S602L|BAIAP3_ENST00000426824.3_Missense_Mutation_p.S625L|BAIAP3_ENST00000397488.2_Missense_Mutation_p.S642L|BAIAP3_ENST00000397489.1_Missense_Mutation_p.S642L|BAIAP3_ENST00000421665.2_Missense_Mutation_p.S589L	p.S660L	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN			21	2137	+		Hepatocellular(780;0.0893)	660					A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	37	c.1979C>T	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	C	7.954	0.745512	0.15710	0.0	1.16E-4	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.71698	-0.58;-0.59;-0.59;-0.59;-0.58	4.42	2.44	0.29823	.	0.560906	0.16442	N	0.214264	T	0.61400	0.2344	L	0.51422	1.61	0.09310	N	1	B;B;B;B	0.15473	0.005;0.005;0.013;0.013	B;B;B;B	0.10450	0.003;0.002;0.002;0.005	T	0.55792	-0.8085	10	0.72032	D	0.01	-5.1953	6.7185	0.23316	0.0:0.7757:0.0:0.2243	.	589;602;660;642	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	L	625;642;660;642;589	ENSP00000407242:S625L;ENSP00000380625:S642L;ENSP00000324510:S660L;ENSP00000380626:S642L;ENSP00000409533:S589L	ENSP00000324510:S660L	S	+	2	0	BAIAP3	1335035	0.003000	0.15002	0.230000	0.23976	0.238000	0.25445	0.350000	0.20079	0.319000	0.23209	0.436000	0.28706	TCG		0.647	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			20	46	0	0	0	1	0	20	46				
ABCC8	6833	broad.mit.edu	37	11	17450176	17450176	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr11:17450176C>T	ENST00000389817.3	-	13	1927	c.1859G>A	c.(1858-1860)cGt>cAt	p.R620H	ABCC8_ENST00000302539.4_Missense_Mutation_p.R620H|ABCC8_ENST00000528202.1_5'Flank			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	620			R -> C (in HHF1; dbSNP:rs58241708).		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)	CTGCTCCTCACGGATCTCTGC	0.652																																						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.(1858-1860)cGt>cAt		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						85.0	80.0	82.0					11																	17450176		2200	4293	6493	SO:0001583	missense	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.chr11:17450176C>T	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.1859G>A	11.37:g.17450176C>T	ENSP00000374467:p.Arg620His					ABCC8_ENST00000389817.3_Missense_Mutation_p.R620H	p.R620H	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	13	1984	-			620		R -> C (in HHF1; dbSNP:rs58241708).			A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.1859G>A	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405555	0.62288	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.91843	-2.91;-2.92	5.28	3.36	0.38483	ABC transporter, transmembrane domain, type 1 (1);	0.197252	0.43919	D	0.000516	D	0.83514	0.5271	N	0.17474	0.49	0.39032	D	0.959952	P	0.44659	0.84	B	0.39379	0.298	T	0.82356	-0.0498	10	0.56958	D	0.05	.	9.3354	0.38047	0.1506:0.7715:0.0:0.0779	.	620	Q09428	ABCC8_HUMAN	H	620;620;624	ENSP00000374467:R620H;ENSP00000303960:R620H	ENSP00000303960:R620H	R	-	2	0	ABCC8	17406752	0.278000	0.24230	0.656000	0.29637	0.703000	0.40648	0.887000	0.28254	0.585000	0.29608	0.561000	0.74099	CGT		0.652	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		13	29	0	0	0	1	0	13	29				
TMEM60	85025	broad.mit.edu	37	7	77423609	77423609	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr7:77423609C>G	ENST00000257663.3	-	2	458	c.82G>C	c.(82-84)Gat>Cat	p.D28H		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	28						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)	4						GCTTTCTCATCCAGTTTCAAC	0.428																																						ENST00000257663.3																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(82-84)Gat>Cat		transmembrane protein 60							77.0	76.0	76.0					7																	77423609		2203	4300	6503	SO:0001583	missense	85025					integral to membrane		g.chr7:77423609C>G	AF260336	CCDS5593.1	7q11.23	2005-07-25	2005-07-25	2005-07-25	ENSG00000135211	ENSG00000135211			21754	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 35"""	C7orf35			Standard	NM_032936		Approved	DC32	uc003ugn.3	Q9H2L4	OTTHUMG00000130689	ENST00000257663.3:c.82G>C	7.37:g.77423609C>G	ENSP00000257663:p.Asp28His						p.D28H	NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN			2	458	-			28					A4D1C3|Q86UM0	Missense_Mutation	SNP	ENST00000257663.3	37	c.82G>C	CCDS5593.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623788	0.87460	.	.	ENSG00000135211	ENST00000257663	T	0.37058	1.22	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.64371	0.2592	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64351	-0.6428	10	0.87932	D	0	-6.8727	20.6593	0.99626	0.0:1.0:0.0:0.0	.	28	Q9H2L4	TMM60_HUMAN	H	28	ENSP00000257663:D28H	ENSP00000257663:D28H	D	-	1	0	TMEM60	77261545	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.662000	0.83803	2.885000	0.99019	0.655000	0.94253	GAT		0.428	TMEM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253185.2	NM_032936		15	36	0	0	0	1	0	15	36				
UMODL1	89766	broad.mit.edu	37	21	43524048	43524048	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr21:43524048C>G	ENST00000408910.2	+	9	1370	c.1370C>G	c.(1369-1371)tCt>tGt	p.S457C	UMODL1_ENST00000400427.1_Missense_Mutation_p.S385C|UMODL1_ENST00000400424.2_Missense_Mutation_p.S385C|C21orf128_ENST00000329015.2_Missense_Mutation_p.R62T|UMODL1_ENST00000408989.2_Missense_Mutation_p.S457C	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	457	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						CAGATCGTGTCTCTCCAGGCG	0.602																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400427.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1153-1155)tCt>tGt		uromodulin-like 1							212.0	177.0	189.0					21																	43524048		2203	4300	6503	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43524048C>G		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.1370C>G	21.37:g.43524048C>G	ENSP00000386147:p.Ser457Cys					UMODL1_ENST00000408910.2_Missense_Mutation_p.S457C|UMODL1_ENST00000408989.2_Missense_Mutation_p.S457C|C21orf128_ENST00000329015.2_Missense_Mutation_p.R62T|UMODL1_ENST00000400424.1_Missense_Mutation_p.S385C	p.S385C	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN			9	1550	+			457			Fibronectin type-III 1.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.1154C>G	CCDS42936.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.23|12.23	1.875450|1.875450	0.33162|0.33162	.|.	.|.	ENSG00000184385|ENSG00000177398	ENST00000329015|ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T|T;T;T;T	0.55588|0.41758	0.51|0.99;0.99;0.99;0.99	3.49|3.49	3.49|3.49	0.39957|0.39957	.|SEA (1);	.|0.000000	.|0.46145	.|D	.|0.000306	T|T	0.62344|0.62344	0.2420|0.2420	M|M	0.74881|0.74881	2.28|2.28	0.09310|0.09310	N|N	1|1	D|D;D;D	0.76494|0.89917	0.999|1.0;1.0;1.0	D|D;D;D	0.74023|0.97110	0.982|1.0;0.999;1.0	T|T	0.54248|0.54248	-0.8322|-0.8322	9|10	0.87932|0.87932	D|D	0|0	-18.019|-18.019	12.9527|12.9527	0.58409|0.58409	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	62|385;457;457	Q8N2C9|Q5DID0-3;Q5DID0-2;Q5DID0	CU128_HUMAN|.;.;UROL1_HUMAN	T|C	62|385;385;457;457	ENSP00000328495:R62T|ENSP00000383279:S385C;ENSP00000383276:S385C;ENSP00000386126:S457C;ENSP00000386147:S457C	ENSP00000328495:R62T|ENSP00000383276:S385C	R|S	-|+	2|2	0|0	C21orf128|UMODL1	42397117|42397117	0.053000|0.053000	0.20554|0.20554	0.028000|0.028000	0.17463|0.17463	0.100000|0.100000	0.18952|0.18952	3.650000|3.650000	0.54424|0.54424	2.233000|2.233000	0.73108|0.73108	0.655000|0.655000	0.94253|0.94253	AGA|TCT		0.602	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			26	95	0	0	0	1	0	26	95				
CNTNAP4	85445	broad.mit.edu	37	16	76592387	76592387	+	Splice_Site	SNP	G	G	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr16:76592387G>A	ENST00000476707.1	+	23	3882	c.3743G>A	c.(3742-3744)gGt>gAt	p.G1248D	CNTNAP4_ENST00000478060.1_Splice_Site_p.G1172D|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Splice_Site_p.G1196D|RP11-58C22.1_ENST00000563764.1_Intron|CNTNAP4_ENST00000307431.8_Splice_Site_p.G1244D			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1245					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						CTCTCTCTAGGTCTGATAGCT	0.343																																						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.e25-1		contactin associated protein-like 4							60.0	61.0	61.0					16																	76592387		1966	4205	6171	SO:0001630	splice_region_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76592387G>A	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.3743-1G>A	16.37:g.76592387G>A						CNTNAP4_ENST00000377504.4_Splice_Site_p.G1196_splice|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Splice_Site_p.G1172_splice|RP11-58C22.1_ENST00000563764.1_Intron|CNTNAP4_ENST00000476707.1_Splice_Site_p.G1248_splice	p.G1244_splice	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			25	4116	+			1245					E9PFZ6|Q86YZ7	Splice_Site	SNP	ENST00000476707.1	37	c.3730_splice		.	.	.	.	.	.	.	.	.	.	G	21.6	4.177709	0.78564	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	5.65	5.65	0.86999	.	0.000000	0.42294	D	0.000730	D	0.89019	0.6596	M	0.88979	2.995	0.54753	D	0.999989	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89244	0.3586	9	.	.	.	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	1172;1248;1245	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	D	1244;1196;1172;1248	ENSP00000306893:G1244D;ENSP00000439733:G1196D;ENSP00000418741:G1172D;ENSP00000417628:G1248D	.	G	+	2	0	CNTNAP4	75149888	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.370000	0.79589	2.941000	0.99782	0.655000	0.94253	GGT		0.343	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401	Missense_Mutation	12	29	0	0	0	1	0	12	29				
CCDC66	285331	broad.mit.edu	37	3	56657518	56657518	+	IGR	SNP	T	T	C			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr3:56657518T>C	ENST00000394672.3	+	0	3096				FAM208A_ENST00000493960.2_3'UTR|FAM208A_ENST00000355628.5_Silent_p.V1459V|FAM208A_ENST00000485156.1_5'UTR|FAM208A_ENST00000431842.2_Silent_p.V1083V	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66						post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AATTGCTGCATACTTCTATAT	0.358																																						ENST00000431842.2																			0				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.(3247-3249)gtA>gtG		family with sequence similarity 208, member A							131.0	136.0	134.0					3																	56657518		2203	4300	6503	SO:0001628	intergenic_variant	23272							g.chr3:56657518T>C	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748		3.37:g.56657518T>C						FAM208A_ENST00000355628.5_Silent_p.V1459V|FAM208A_ENST00000493960.2_3'UTR|FAM208A_ENST00000485156.1_5'UTR	p.V1083V	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN			17	4173	-			1520					B3KWL8|Q4VC34|Q8N949	Silent	SNP	ENST00000394672.3	37	c.3249A>G	CCDS46852.1																																																																																				0.358	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		20	49	0	0	0	1	0	20	49				
MUC5B	727897	broad.mit.edu	37	11	1269102	1269102	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr11:1269102C>G	ENST00000529681.1	+	31	11050	c.10992C>G	c.(10990-10992)ttC>ttG	p.F3664L	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.F3667L	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3664	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	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)		TCCGTGTGTTCTGCTGCAACT	0.602																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(10999-11001)ttC>ttG		mucin 5B, oligomeric mucus/gel-forming							38.0	51.0	47.0					11																	1269102		1922	4086	6008	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1269102C>G	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.10992C>G	11.37:g.1269102C>G	ENSP00000436812:p.Phe3664Leu					RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.F3664L	p.F3667L			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	11059	+		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)	3664	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.11001C>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	13.22	2.170826	0.38315	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.15952	2.38;2.38	4.05	-4.66	0.03329	.	.	.	.	.	T	0.10208	0.0250	N	0.00985	-1.075	0.09310	N	1	P;B	0.38617	0.64;0.004	P;B	0.52309	0.695;0.003	T	0.48768	-0.9006	9	0.87932	D	0	.	11.078	0.48043	0.0672:0.6254:0.2127:0.0946	.	4192;3667	A7Y9J9;E9PBJ0	.;.	L	3664;3667;3636;3569	ENSP00000436812:F3664L;ENSP00000415793:F3667L	ENSP00000343037:F3636L	F	+	3	2	MUC5B	1225678	0.000000	0.05858	0.647000	0.29507	0.027000	0.11550	-7.472000	0.00035	-1.245000	0.02513	-0.531000	0.04308	TTC		0.602	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		22	72	0	0	0	1	0	22	72				
ZNF695	57116	broad.mit.edu	37	1	247151417	247151417	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr1:247151417A>T	ENST00000339986.7	-	4	547	c.400T>A	c.(400-402)Tgg>Agg	p.W134R	ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	134					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGCCCTTTCCACTCACCCACA	0.388																																						ENST00000339986.7																			0				endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13						c.(400-402)Tgg>Agg		zinc finger protein 695							241.0	233.0	235.0					1																	247151417		1912	4119	6031	SO:0001583	missense	57116				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr1:247151417A>T		CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"""Zinc fingers, C2H2-type"", ""-"""	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.400T>A	1.37:g.247151417A>T	ENSP00000341236:p.Trp134Arg					ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron	p.W134R	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		4	547	-	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	134					Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Missense_Mutation	SNP	ENST00000339986.7	37	c.400T>A	CCDS44344.1	.	.	.	.	.	.	.	.	.	.	A	8.122	0.781210	0.16120	.	.	ENSG00000197472	ENST00000339986	T	0.05996	3.36	0.459	-0.917	0.10485	.	.	.	.	.	T	0.03608	0.0103	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.43475	-0.9389	9	0.33940	T	0.23	.	3.4386	0.07454	0.3558:0.0:0.0:0.6442	.	134	Q8IW36	ZN695_HUMAN	R	134	ENSP00000341236:W134R	ENSP00000341236:W134R	W	-	1	0	ZNF695	245218040	0.000000	0.05858	0.006000	0.13384	0.712000	0.41017	-0.250000	0.08830	-0.723000	0.04915	0.164000	0.16699	TGG		0.388	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097823.5	NM_020394		63	243	0	0	0	1	0	63	243				
ERAP2	64167	broad.mit.edu	37	5	96245440	96245440	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr5:96245440C>T	ENST00000437043.3	+	15	3037	c.2326C>T	c.(2326-2328)Cag>Tag	p.Q776*	ERAP2_ENST00000379904.4_Nonsense_Mutation_p.Q731*|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	776					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)		ACTCTTCTCCCAGTGGATGGA	0.473																																						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.(2326-2328)Cag>Tag		endoplasmic reticulum aminopeptidase 2							68.0	67.0	67.0					5																	96245440		2203	4300	6503	SO:0001587	stop_gained	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.chr5:96245440C>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.2326C>T	5.37:g.96245440C>T	ENSP00000400376:p.Gln776*					CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Nonsense_Mutation_p.Q731*	p.Q776*	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	15	3037	+		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)	776					Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Nonsense_Mutation	SNP	ENST00000437043.3	37	c.2326C>T	CCDS4086.1	.	.	.	.	.	.	.	.	.	.	C	37	6.366257	0.97507	.	.	ENSG00000164308	ENST00000437043;ENST00000379904	.	.	.	4.78	1.68	0.24146	.	0.569662	0.17506	N	0.171809	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	2.9757	0.05936	0.3044:0.4708:0.1317:0.0932	.	.	.	.	X	776;731	.	ENSP00000369235:Q731X	Q	+	1	0	ERAP2	96271196	0.000000	0.05858	0.861000	0.33841	0.992000	0.81027	0.680000	0.25306	0.674000	0.31244	0.563000	0.77884	CAG		0.473	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350		10	37	0	0	0	1	0	10	37				
ZNF28	7576	broad.mit.edu	37	19	53304912	53304912	+	Silent	SNP	C	C	G			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr19:53304912C>G	ENST00000457749.2	-	4	305	c.186G>C	c.(184-186)ggG>ggC	p.G62G	ZNF28_ENST00000594602.1_Missense_Mutation_p.A102P|ZNF28_ENST00000438150.2_Silent_p.G9G|ZNF28_ENST00000360272.4_Silent_p.G9G|ZNF28_ENST00000339844.6_Splice_Site_p.A52P|ZNF28_ENST00000414252.2_Silent_p.G9G	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	62	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(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)		TATTGCCTTGCCCTGTTGAGA	0.378																																						ENST00000594602.1																			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.(304-306)Gca>Cca		zinc finger protein 28							147.0	146.0	147.0					19																	53304912		2203	4300	6503	SO:0001819	synonymous_variant	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53304912C>G	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.186G>C	19.37:g.53304912C>G						ZNF28_ENST00000438150.2_Silent_p.G9G|ZNF28_ENST00000414252.2_Silent_p.G9G|ZNF28_ENST00000339844.6_Splice_Site_p.A52_splice|ZNF28_ENST00000457749.2_Silent_p.G62G|ZNF28_ENST00000360272.4_Silent_p.G9G	p.A102P			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	5	405	-			0					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.304G>C	CCDS33093.2																																																																																				0.378	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		45	163	0	0	0	1	0	45	163				
GPR158	57512	broad.mit.edu	37	10	25861686	25861686	+	Silent	SNP	C	C	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr10:25861686C>A	ENST00000376351.3	+	7	1982	c.1623C>A	c.(1621-1623)ctC>ctA	p.L541L		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	541					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						TTTGGTTTCTCATTGGCTGGA	0.453																																						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.(1621-1623)ctC>ctA		G protein-coupled receptor 158							239.0	167.0	191.0					10																	25861686		2203	4300	6503	SO:0001819	synonymous_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25861686C>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.1623C>A	10.37:g.25861686C>A							p.L541L	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			7	1982	+			541					Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	37	c.1623C>A	CCDS31166.1																																																																																				0.453	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		12	49	1	0	2.27111e-07	1	2.37991e-07	12	49				
PCDHGA10	56106	broad.mit.edu	37	5	140794641	140794641	+	Silent	SNP	G	G	A			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr5:140794641G>A	ENST00000398610.2	+	1	1899	c.1899G>A	c.(1897-1899)gcG>gcA	p.A633A	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	633	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)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCACGGCGCGAGCCCTGC	0.697																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1897-1899)gcG>gcA									45.0	54.0	51.0					5																	140794641		2203	4296	6499	SO:0001819	synonymous_variant	56106							g.chr5:140794641G>A		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1899G>A	5.37:g.140794641G>A						PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.A633A	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1899	+								Q9Y5E0	Silent	SNP	ENST00000398610.2	37	c.1899G>A	CCDS47292.1																																																																																				0.697	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		8	81	0	0	0	1	0	8	81				
GRM7	2917	broad.mit.edu	37	3	7348270	7348270	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr3:7348270C>G	ENST00000357716.4	+	4	1238	c.964C>G	c.(964-966)Cca>Gca	p.P322A	GRM7_ENST00000486284.1_Missense_Mutation_p.P322A|GRM7_ENST00000403881.1_Missense_Mutation_p.P322A|GRM7_ENST00000402647.2_Missense_Mutation_p.P322A|GRM7_ENST00000389336.4_Missense_Mutation_p.P322A	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	322					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						CAAAATAAACCCACTGCACCA	0.507																																						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.(964-966)Cca>Gca		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						98.0	97.0	97.0					3																	7348270		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.chr3:7348270C>G	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.964C>G	3.37:g.7348270C>G	ENSP00000350348:p.Pro322Ala					GRM7_ENST00000402647.2_Missense_Mutation_p.P322A|GRM7_ENST00000403881.1_Missense_Mutation_p.P322A|GRM7_ENST00000357716.4_Missense_Mutation_p.P322A|GRM7_ENST00000389336.4_Missense_Mutation_p.P322A	p.P322A	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			4	1238	+			322					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.964C>G	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241195	0.39598	.	.	ENSG00000196277	ENST00000448328;ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D;D	0.85955	-2.05;-1.54;-1.54;-1.54;-1.54;-1.54	5.5	5.5	0.81552	Extracellular ligand-binding receptor (1);	0.266339	0.37136	N	0.002232	D	0.83303	0.5225	L	0.56769	1.78	0.46241	D	0.99894	B;B;B	0.19331	0.002;0.002;0.035	B;B;B	0.25759	0.004;0.007;0.063	T	0.77656	-0.2506	10	0.15499	T	0.54	.	18.3641	0.90385	0.0:1.0:0.0:0.0	.	322;322;322	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	A	114;322;322;322;322;322;322;322	ENSP00000393799:P114A;ENSP00000350348:P322A;ENSP00000417536:P322A;ENSP00000373987:P322A;ENSP00000385664:P322A;ENSP00000384585:P322A	ENSP00000350348:P322A	P	+	1	0	GRM7	7323270	1.000000	0.71417	0.981000	0.43875	0.974000	0.67602	5.935000	0.70145	2.767000	0.95098	0.585000	0.79938	CCA		0.507	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		19	51	0	0	0	1	0	19	51				
NAA60	79903	broad.mit.edu	37	16	3526325	3526325	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr16:3526325G>T	ENST00000407558.4	+	3	401	c.98G>T	c.(97-99)tGg>tTg	p.W33L	NAA60_ENST00000608722.1_Missense_Mutation_p.W33L|NAA60_ENST00000414063.2_Missense_Mutation_p.W33L|NAA60_ENST00000421765.3_Missense_Mutation_p.W33L|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000576916.1_Missense_Mutation_p.W33L|NAA60_ENST00000608993.1_Intron|NAA60_ENST00000570819.1_Missense_Mutation_p.W33L|NAA60_ENST00000572942.1_Missense_Mutation_p.W33L|NAA60_ENST00000424546.2_Intron|NAA60_ENST00000577013.1_Missense_Mutation_p.W33L|NAA60_ENST00000572584.1_Missense_Mutation_p.W33L|NAA60_ENST00000575076.1_Missense_Mutation_p.W33L|NAA60_ENST00000360862.5_Intron|NAA60_ENST00000610180.1_Missense_Mutation_p.W33L|NAA60_ENST00000570551.1_Intron|NAA60_ENST00000573580.1_Intron			Q9H7X0	NAA60_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	33	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|histone H4 acetylation (GO:0043967)|N-terminal peptidyl-methionine acetylation (GO:0017196)|nucleosome assembly (GO:0006334)	Golgi membrane (GO:0000139)	H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						TGTGGCGACTGGTTCCCCATC	0.642																																						ENST00000407558.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						c.(97-99)tGg>tTg		N(alpha)-acetyltransferase 60, NatF catalytic subunit							63.0	64.0	64.0					16																	3526325		2189	4294	6483	SO:0001583	missense	79903						N-acetyltransferase activity	g.chr16:3526325G>T		CCDS45396.1	16p13.3	2012-07-13	2011-08-02	2011-08-02	ENSG00000122390	ENSG00000122390	2.3.1.48, 2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	25875	protein-coding gene	gene with protein product		614246	"""N-acetyltransferase 15 (GCN5-related, putative)"""	NAT15		12975309, 21750686	Standard	NM_001083600		Approved	FLJ14154	uc010btm.3	Q9H7X0	OTTHUMG00000150268	ENST00000407558.4:c.98G>T	16.37:g.3526325G>T	ENSP00000385903:p.Trp33Leu					NAA60_ENST00000577013.1_Missense_Mutation_p.W33L|NAA60_ENST00000360862.5_Intron|NAA60_ENST00000572584.1_Missense_Mutation_p.W33L|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000576916.1_Missense_Mutation_p.W33L|NAA60_ENST00000570819.1_Missense_Mutation_p.W33L|NAA60_ENST00000570551.1_Intron|LA16c-306E5.2_ENST00000575785.1_RNA|NAA60_ENST00000421765.3_Missense_Mutation_p.W33L|NAA60_ENST00000414063.2_Missense_Mutation_p.W33L|NAA60_ENST00000575076.1_Missense_Mutation_p.W33L|NAA60_ENST00000424546.2_Intron|NAA60_ENST00000572942.1_Missense_Mutation_p.W33L|NAA60_ENST00000573580.1_Intron	p.W33L	NM_001083601.1	NP_001077070.1	Q9H7X0	NAT15_HUMAN			3	401	+			33			N-acetyltransferase.		B3KRQ0|B4DLZ0|B4DPZ8|B4DYC4|D3DUC2|E7EQ65|Q6IA31|Q6UX26	Missense_Mutation	SNP	ENST00000407558.4	37	c.98G>T	CCDS45396.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564068	0.65651	.	.	ENSG00000122390	ENST00000407558;ENST00000414063;ENST00000421765	T;T	0.39406	1.08;1.08	5.77	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.26448	0.0646	N	0.21545	0.675	0.80722	D	1	P	0.41929	0.765	B	0.34180	0.177	T	0.03662	-1.1015	10	0.15066	T	0.55	.	15.8435	0.78868	0.0:0.1361:0.8639:0.0	.	33	Q9H7X0	NAA60_HUMAN	L	33	ENSP00000385903:W33L;ENSP00000393224:W33L	ENSP00000385903:W33L	W	+	2	0	NAA60	3466326	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.253000	0.95501	1.423000	0.47198	0.561000	0.74099	TGG		0.642	NAA60-001	KNOWN	NMD_exception|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317235.2	NM_024845		6	16	1	0	0.00116845	1	0.00118883	6	16				
FAM131A	131408	broad.mit.edu	37	3	184060002	184060002	+	Silent	SNP	C	C	G			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr3:184060002C>G	ENST00000310585.4	+	1	1745	c.381C>G	c.(379-381)ctC>ctG	p.L127L	FAM131A_ENST00000450976.1_Silent_p.L73L|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000383847.2_Silent_p.L158L|FAM131A_ENST00000453072.1_Silent_p.L73L|FAM131A_ENST00000418281.1_Silent_p.L35L|FAM131A_ENST00000340957.5_Silent_p.L73L			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	127						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATTCAGACCTCAGCGAGGGCG	0.542																																						ENST00000310585.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14						c.(379-381)ctC>ctG		family with sequence similarity 131, member A							68.0	70.0	69.0					3																	184060002		2203	4300	6503	SO:0001819	synonymous_variant	131408					extracellular region		g.chr3:184060002C>G	BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 40"""	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206	ENST00000310585.4:c.381C>G	3.37:g.184060002C>G						FAM131A_ENST00000340957.5_Silent_p.L73L|FAM131A_ENST00000418281.1_Silent_p.L35L|FAM131A_ENST00000383847.2_Silent_p.L158L|FAM131A_ENST00000450976.1_Silent_p.L73L|FAM131A_ENST00000453072.1_Silent_p.L73L|EIF2B5_ENST00000444495.1_Intron	p.L127L			Q6UXB0	F131A_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		1	1745	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		127					D3DNT6|G5E9B1|Q8TA84	Silent	SNP	ENST00000310585.4	37	c.381C>G																																																																																					0.542	FAM131A-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000343462.1	NM_144635		20	97	0	0	0	1	0	20	97				
CHD1	1105	broad.mit.edu	37	5	98209410	98209410	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr5:98209410C>T	ENST00000284049.3	-	25	3607	c.3458G>A	c.(3457-3459)cGa>cAa	p.R1153Q	CHD1_ENST00000511067.1_5'Flank	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1153					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)	CTCAGCATCTCGAGCAATTGC	0.338																																						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.(3457-3459)cGa>cAa		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						166.0	154.0	158.0					5																	98209410		2202	4299	6501	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.chr5:98209410C>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.3458G>A	5.37:g.98209410C>T	ENSP00000284049:p.Arg1153Gln						p.R1153Q	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	25	3607	-		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)	1153					Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.3458G>A	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188233	0.78789	.	.	ENSG00000153922	ENST00000284049	D	0.89485	-2.52	5.26	5.26	0.73747	.	0.000000	0.29126	U	0.013070	T	0.80732	0.4679	L	0.27053	0.805	0.80722	D	1	P	0.35348	0.496	B	0.24848	0.056	T	0.78339	-0.2242	10	0.12103	T	0.63	.	19.7525	0.96273	0.0:1.0:0.0:0.0	.	1153	O14646	CHD1_HUMAN	Q	1153	ENSP00000284049:R1153Q	ENSP00000284049:R1153Q	R	-	2	0	CHD1	98237310	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.179000	0.77665	2.843000	0.97960	0.591000	0.81541	CGA		0.338	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		13	38	0	0	0	1	0	13	38				
ASH1L	55870	broad.mit.edu	37	1	155307999	155308000	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr1:155307999_155308000insT	ENST00000368346.3	-	27	9337_9338	c.8698_8699insA	c.(8698-8700)acafs	p.T2900fs	ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.T2895fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2900					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.T2895fs*44(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACTTTCCTCTGTTTTTTTTTCA	0.52																																						ENST00000368346.3																			1	Deletion - Frameshift(1)	p.T2895fs*44(1)	large_intestine(1)	autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(8698-8700)agafs		ash1 (absent, small, or homeotic)-like (Drosophila)																																				SO:0001589	frameshift_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155307999_155308000insT	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.8699dupA	1.37:g.155308008_155308008dupT	ENSP00000357330:p.Thr2900fs					ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.R2895fs	p.R2900fs			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		27	9337_9338	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2900					Q59GP1|Q5T714|Q5T715|Q9P2C7	Frame_Shift_Ins	INS	ENST00000368346.3	37	c.8698_8699insA																																																																																					0.520	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		8	132						8	132	---	---	---	---
MYRIP	25924	broad.mit.edu	37	3	40231499	40231500	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr3:40231499_40231500insG	ENST00000302541.6	+	10	1552_1553	c.1210_1211insG	c.(1210-1212)agtfs	p.S404fs	MYRIP_ENST00000444716.1_Frame_Shift_Ins_p.S404fs|MYRIP_ENST00000396217.3_Frame_Shift_Ins_p.S315fs|MYRIP_ENST00000539167.1_Frame_Shift_Ins_p.S217fs|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Frame_Shift_Ins_p.S404fs	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	404	Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CTTTGACTGGAGTGAGGCCTTG	0.624																																						ENST00000302541.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1210-1212)tgafs		myosin VIIA and Rab interacting protein																																				SO:0001589	frameshift_variant	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40231499_40231500insG	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1211dupG	3.37:g.40231500_40231500dupG	ENSP00000301972:p.Ser404fs					MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Frame_Shift_Ins_p.*404fs|MYRIP_ENST00000444716.1_Frame_Shift_Ins_p.*404fs|MYRIP_ENST00000539167.1_Frame_Shift_Ins_p.*217fs|MYRIP_ENST00000396217.3_Frame_Shift_Ins_p.*315fs	p.*404fs	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	10	1552_1553	+			404			Myosin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Frame_Shift_Ins	INS	ENST00000302541.6	37	c.1210_1211insG	CCDS2689.1																																																																																				0.624	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		27	41						27	41	---	---	---	---
KIAA0391	9692	broad.mit.edu	37	14	35592700	35592700	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr14:35592700delT	ENST00000557565.1	+	2	630	c.249delT	c.(247-249)catfs	p.H83fs	KIAA0391_ENST00000604948.1_Intron|KIAA0391_ENST00000321130.10_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000250377.7_5'UTR|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000534898.4_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000603544.1_Frame_Shift_Del_p.H83fs|PPP2R3C_ENST00000555644.1_5'Flank|PPP2R3C_ENST00000261475.5_5'Flank	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	83					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CTGTTCCTCATTTTTTTTTAG	0.423																																						ENST00000557565.1																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14						c.(247-249)cafs		KIAA0391							49.0	48.0	48.0					14																	35592700		2203	4300	6503	SO:0001589	frameshift_variant	9692				tRNA processing	mitochondrion		g.chr14:35592700delT	AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 3"", ""proteinaceous RNase P"""	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.249delT	14.37:g.35592700delT	ENSP00000454657:p.His83fs					KIAA0391_ENST00000250377.7_5'UTR|KIAA0391_ENST00000534898.4_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000604948.1_Intron|KIAA0391_ENST00000603544.1_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000321130.10_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000605870.1_Intron	p.H83fs			O15091	MRRP3_HUMAN	Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)	2	630	+	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		83					B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Frame_Shift_Del	DEL	ENST00000557565.1	37	c.249delT	CCDS32063.1																																																																																				0.423	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672		7	46						7	46	---	---	---	---
GDPD3	79153	broad.mit.edu	37	16	30124660	30124662	+	Splice_Site	DEL	CCT	CCT	-			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr16:30124660_30124662delCCT	ENST00000406256.3	-	1	515_517	c.138_140delAGG	c.(136-141)ggagga>gga	p.46_47GG>G	RP11-455F5.4_ENST00000566190.1_RNA|MAPK3_ENST00000494643.1_5'Flank	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	46	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						ACCCGGCTCACCTCCTCGGTGGG	0.64																																						ENST00000406256.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						c.e1+1		glycerophosphodiester phosphodiesterase domain containing 3																																				SO:0001630	splice_region_variant	79153				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr16:30124660_30124662delCCT	AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.139+1AGG>-	16.37:g.30124663_30124665delCCT							p.GG46_splice	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN			1	515_517	-			46			GDPD.		Q9H652	Splice_Site	DEL	ENST00000406256.3	37	c.139_splice	CCDS10671.2																																																																																				0.640	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	NM_024307	In_Frame_Del	11	330						11	330	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577048	7577048	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr17:7577048delT	ENST00000269305.4	-	8	1079	c.890delA	c.(889-891)cacfs	p.H297fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.H297fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.H297fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.H297fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.H297fs	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	297	Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		H -> D (in a sporadic cancer; somatic mutation).|H -> N (in a sporadic cancer; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (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.0?(8)|p.?(2)|p.L265_K305del41(1)|p.H297P(1)|p.G293fs*1(1)|p.H297fs*48(1)|p.H296_S303delHHELPPGS(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)	GGGCAGCTCGTGGTGAGGCTC	0.567		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"""		15	Whole gene deletion(8)|Unknown(2)|Deletion - In frame(2)|Deletion - Frameshift(2)|Substitution - Missense(1)	p.0?(8)|p.?(2)|p.L265_K305del41(1)|p.H297P(1)|p.G293fs*1(1)|p.H297fs*48(1)|p.H296_S303delHHELPPGS(1)	bone(5)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(2)|cervix(1)|stomach(1)|urinary_tract(1)|breast(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(889-891)ccfs	Other conserved DNA damage response genes	tumor protein p53							109.0	95.0	100.0					17																	7577048		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577048delT	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.890delA	17.37:g.7577048delT	ENSP00000269305:p.His297fs	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_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.H297fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.H297fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.H297fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.H297fs	p.H297fs	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)	8	1022	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	297		H -> D (in a sporadic cancer; somatic mutation).|H -> N (in a sporadic cancer; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).	Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.890delA	CCDS11118.1																																																																																				0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	33						28	33	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr17:45247389delT	ENST00000066544.3	-	4	364	c.271delA	c.(271-273)atcfs	p.I91fs	CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	91					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.I91fs*54(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						CCAGATAAGATTTGTTCCCCT	0.323																																						ENST00000066544.3																			1	Deletion - Frameshift(1)	p.I91fs*54(1)	ovary(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.(271-273)tcfs		cell division cycle 27							84.0	94.0	91.0					17																	45247389		2203	4299	6502	SO:0001589	frameshift_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.chr17:45247389delT	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.271delA	17.37:g.45247389delT	ENSP00000066544:p.Ile91fs					CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs	p.I91fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			4	364	-			91					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.271delA	CCDS11509.1																																																																																				0.323	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			7	96						7	96	---	---	---	---
ADORA2A	135	broad.mit.edu	37	22	24829669	24829680	+	In_Frame_Del	DEL	CATTGACCGCTA	CATTGACCGCTA	-			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chr22:24829669_24829680delCATTGACCGCTA	ENST00000337539.7	+	2	756_767	c.297_308delCATTGACCGCTA	c.(295-309)gccattgaccgctac>gcc	p.IDRY100del	ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A_ENST00000496497.1_Intron	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	100					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	TGGCCATCGCCATTGACCGCTACATTGCCATC	0.627																																						ENST00000337539.7																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21						c.(295-309)gcc>gc		adenosine A2a receptor	Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)																																			SO:0001651	inframe_deletion	135				apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding	g.chr22:24829669_24829680delCATTGACCGCTA	X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"""GPCR / Class A : Adenosine receptors"""	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.297_308delCATTGACCGCTA	22.37:g.24829669_24829680delCATTGACCGCTA	ENSP00000336630:p.Ile100_Tyr103del					ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A_ENST00000496497.1_Intron|ADORA2A-AS1_ENST00000543438.1_RNA|KB-1896H10.1_ENST00000358654.2_3'UTR	p.AIDRY99del	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN			2	756_767	+	Colorectal(2;0.196)		99					B2R7E0	In_Frame_Del	DEL	ENST00000337539.7	37	c.297_308delCATTGACCGCTA	CCDS13826.1																																																																																				0.627	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	NM_000675		14	59						14	59	---	---	---	---
SLITRK2	84631	broad.mit.edu	37	X	144905535	144905535	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A498-01A-11D-A24D-08	TCGA-CN-A498-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8a2708-1703-4c31-acbd-004ea132ded7	19c1570e-5804-473b-9f8d-e973e802a0fd	g.chrX:144905535delG	ENST00000370490.1	+	1	5847	c.1592delG	c.(1591-1593)tggfs	p.W531fs	SLITRK2_ENST00000447897.2_Frame_Shift_Del_p.W531fs|SLITRK2_ENST00000434188.2_Frame_Shift_Del_p.W531fs|SLITRK2_ENST00000413937.2_Frame_Shift_Del_p.W531fs|SLITRK2_ENST00000428560.2_Frame_Shift_Del_p.W531fs			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	531	LRRCT 2.				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)					GAGAACCCCTGGGACTGTACC	0.498																																						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.(1591-1593)tgfs		SLIT and NTRK-like family, member 2							71.0	68.0	69.0					X																	144905535		2203	4300	6503	SO:0001589	frameshift_variant	84631					integral to membrane		g.chrX:144905535delG	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.1592delG	X.37:g.144905535delG	ENSP00000359521:p.Trp531fs					SLITRK2_ENST00000413937.2_Frame_Shift_Del_p.W531fs|SLITRK2_ENST00000428560.2_Frame_Shift_Del_p.W531fs|SLITRK2_ENST00000447897.2_Frame_Shift_Del_p.W531fs|SLITRK2_ENST00000434188.2_Frame_Shift_Del_p.W531fs	p.W531fs			Q9H156	SLIK2_HUMAN			1	5847	+	Acute lymphoblastic leukemia(192;6.56e-05)		531			LRRCT 2.		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Frame_Shift_Del	DEL	ENST00000370490.1	37	c.1592delG	CCDS14680.1																																																																																				0.498	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		22	81						22	81	---	---	---	---
