#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
KCNK1	3775	broad.mit.edu	37	1	233802400	233802400	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:233802400G>A	ENST00000366621.3	+	2	583	c.415G>A	c.(415-417)Gtc>Atc	p.V139I	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Missense_Mutation_p.V23I	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	139					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	CATCTACTCCGTCATTGGCAT	0.582																																						ENST00000366621.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11						c.(415-417)Gtc>Atc		potassium channel, subfamily K, member 1	Ibutilide(DB00308)|Quinidine(DB00908)						212.0	145.0	167.0					1																	233802400		2203	4300	6503	SO:0001583	missense	3775					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr1:233802400G>A	U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.415G>A	1.37:g.233802400G>A	ENSP00000355580:p.Val139Ile					KCNK1_ENST00000366620.1_Missense_Mutation_p.V23I|KCNK1_ENST00000472190.1_3'UTR	p.V139I	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN			2	583	+		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)	139					Q13307|Q5T5E8	Missense_Mutation	SNP	ENST00000366621.3	37	c.415G>A	CCDS1599.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974651	0.53720	.	.	ENSG00000135750	ENST00000366621;ENST00000366620;ENST00000446915	T;T;T	0.30714	1.97;1.52;1.52	5.91	4.05	0.47172	Ion transport 2 (1);	0.221641	0.46442	N	0.000293	T	0.12561	0.0305	N	0.04636	-0.2	0.50171	D	0.999855	B	0.33000	0.393	B	0.24006	0.05	T	0.11817	-1.0572	10	0.35671	T	0.21	.	9.6445	0.39859	0.2091:0.0:0.7909:0.0	.	139	O00180	KCNK1_HUMAN	I	139;23;57	ENSP00000355580:V139I;ENSP00000355579:V23I;ENSP00000409626:V57I	ENSP00000355579:V23I	V	+	1	0	KCNK1	231869023	1.000000	0.71417	0.713000	0.30519	0.846000	0.48090	4.768000	0.62293	0.842000	0.35045	0.655000	0.94253	GTC		0.582	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092565.1	NM_002245		25	50	0	0	0	1	0	25	50				
LRRTM3	347731	broad.mit.edu	37	10	68687519	68687519	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr10:68687519G>A	ENST00000361320.4	+	2	1423	c.845G>A	c.(844-846)cGc>cAc	p.R282H	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	282					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AATCTGCAGCGCCTCAACCTG	0.458																																						ENST00000361320.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						c.(844-846)cGc>cAc		leucine rich repeat transmembrane neuronal 3							118.0	126.0	124.0					10																	68687519		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68687519G>A	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.845G>A	10.37:g.68687519G>A	ENSP00000355187:p.Arg282His					CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron	p.R282H	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN			2	1423	+			282					A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.845G>A	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.639869	0.47153	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.55588	0.51	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000001	T	0.54759	0.1878	N	0.25144	0.715	0.58432	D	0.999993	D;D	0.69078	0.997;0.992	P;P	0.60609	0.877;0.806	T	0.42999	-0.9418	10	0.10636	T	0.68	.	18.6074	0.91271	0.0:0.0:1.0:0.0	.	282;282	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	H	282	ENSP00000355187:R282H	ENSP00000355187:R282H	R	+	2	0	LRRTM3	68357525	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.990000	0.76225	2.693000	0.91896	0.585000	0.79938	CGC		0.458	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		68	99	0	0	0	1	0	68	99				
PIK3CA	5290	broad.mit.edu	37	3	178916824	178916824	+	Missense_Mutation	SNP	G	G	A	rs201269904		TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr3:178916824G>A	ENST00000263967.3	+	2	368	c.211G>A	c.(211-213)Gta>Ata	p.V71I		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	71	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				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)			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)	TTACATTTTCGTAAGTGTTAC	0.353		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		0				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.(211-213)Gta>Ata		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							96.0	92.0	93.0					3																	178916824		1816	4084	5900	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.chr3:178916824G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.211G>A	3.37:g.178916824G>A	ENSP00000263967:p.Val71Ile	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.V71I	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	368	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		71			PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.211G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196240	0.58126	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.72725	-0.68;-0.68	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	L	0.38838	1.175	0.80722	D	1	P	0.48230	0.907	B	0.37144	0.242	T	0.62473	-0.6847	9	.	.	.	-4.7273	19.2635	0.93977	0.0:0.0:1.0:0.0	.	71	P42336	PK3CA_HUMAN	I	71	ENSP00000263967:V71I;ENSP00000417479:V71I	.	V	+	1	0	PIK3CA	180399518	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.409000	0.97331	2.547000	0.85894	0.555000	0.69702	GTA		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			7	161	0	0	0	1	0	7	161				
ABCA2	20	broad.mit.edu	37	9	139903015	139903015	+	Silent	SNP	C	C	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr9:139903015C>T	ENST00000371605.3	-	47	7272	c.7125G>A	c.(7123-7125)ccG>ccA	p.P2375P	ABCA2_ENST00000341511.6_Silent_p.P2376P|ABCA2_ENST00000265662.5_Silent_p.P2376P			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2375					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTGCGGATGGCGGCTCCGTCT	0.682																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(7126-7128)ccG>ccA		ATP-binding cassette, sub-family A (ABC1), member 2							19.0	23.0	22.0					9																	139903015		2073	4196	6269	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139903015C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.7125G>A	9.37:g.139903015C>T						ABCA2_ENST00000341511.6_Silent_p.P2376P|ABCA2_ENST00000371605.3_Silent_p.P2375P	p.P2376P			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	48	7275	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	2375					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.7128G>A																																																																																					0.682	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		5	20	0	0	0	1	0	5	20				
PRRC2A	7916	broad.mit.edu	37	6	31597462	31597462	+	Silent	SNP	G	G	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr6:31597462G>C	ENST00000376033.2	+	14	2328	c.2094G>C	c.(2092-2094)ccG>ccC	p.P698P	PRRC2A_ENST00000376007.4_Silent_p.P698P	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	698	4 X 57 AA type A repeats.|Poly-Pro.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CTCCACCCCCGCCCCCCAAGG	0.652																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(2092-2094)ccG>ccC		proline-rich coiled-coil 2A							14.0	18.0	17.0					6																	31597462		2136	4175	6311	SO:0001819	synonymous_variant	7916					cytoplasm|nucleus	protein binding	g.chr6:31597462G>C	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2094G>C	6.37:g.31597462G>C						PRRC2A_ENST00000376007.4_Silent_p.P698P	p.P698P	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			14	2328	+			698			4 X 57 AA type A repeats.|Poly-Pro.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP	ENST00000376033.2	37	c.2094G>C	CCDS4708.1																																																																																				0.652	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		4	50	0	0	0	1	0	4	50				
ANK2	287	broad.mit.edu	37	4	114257044	114257044	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr4:114257044G>A	ENST00000357077.4	+	30	3475	c.3422G>A	c.(3421-3423)cGc>cAc	p.R1141H	ANK2_ENST00000394537.3_Missense_Mutation_p.R1141H|ANK2_ENST00000509550.1_Missense_Mutation_p.R317H|ANK2_ENST00000506722.1_Missense_Mutation_p.R1132H|ANK2_ENST00000264366.6_Missense_Mutation_p.R1108H	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1141	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CGAATCTGCCGCATCATCACC	0.463																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(3421-3423)cGc>cAc		ankyrin 2, neuronal							108.0	106.0	107.0					4																	114257044		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114257044G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3422G>A	4.37:g.114257044G>A	ENSP00000349588:p.Arg1141His					ANK2_ENST00000264366.6_Missense_Mutation_p.R1108H|ANK2_ENST00000509550.1_Missense_Mutation_p.R317H|ANK2_ENST00000394537.3_Missense_Mutation_p.R1141H|ANK2_ENST00000506722.1_Missense_Mutation_p.R1132H	p.R1141H	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	30	3475	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1108					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.3422G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	33	5.282112	0.95489	.	.	ENSG00000145362	ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	T;T;T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.85;-0.75;-0.86	4.97	4.97	0.65823	.	0.000000	0.49916	D	0.000136	D	0.88987	0.6587	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.995	D;D;D;D;D;D;D	0.97110	0.998;0.998;0.998;1.0;1.0;0.98;0.951	D	0.90821	0.4709	9	.	.	.	.	18.6117	0.91288	0.0:0.0:1.0:0.0	.	317;1108;153;1141;1141;1132;1132	E9PCH6;Q01484;Q7Z344;Q01484-2;Q01484-4;Q01484-5;F8WEF9	.;ANK2_HUMAN;.;.;.;.;.	H	1054;1132;187;1156;1141;1141;1108;1132;317	ENSP00000421011:R1054H;ENSP00000421067:R1132H;ENSP00000424722:R1156H;ENSP00000378044:R1141H;ENSP00000349588:R1141H;ENSP00000264366:R1108H;ENSP00000426944:R317H	.	R	+	2	0	ANK2	114476493	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.813000	0.99286	2.455000	0.83008	0.655000	0.94253	CGC		0.463	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		4	139	0	0	0	1	0	4	139				
WDR88	126248	broad.mit.edu	37	19	33651385	33651385	+	Missense_Mutation	SNP	C	C	T	rs142717725	byFrequency	TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr19:33651385C>T	ENST00000355868.3	+	8	1139	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	WDR88_ENST00000361680.2_Missense_Mutation_p.R355W	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	355										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					AGAAGGCTACCGGAAGCTCTC	0.507													C|||	3	0.000599042	0.0008	0.0029	5008	,	,		19465	0.0		0.0	False		,,,				2504	0.0					ENST00000361680.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(1063-1065)Cgg>Tgg		WD repeat domain 88		C	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	197.0	181.0	186.0		1063	3.0	1.0	19	dbSNP_134	186	1,8599	1.2+/-3.3	0,1,4299	yes	missense	WDR88	NM_173479.3	101	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	probably-damaging	355/473	33651385	4,13002	2203	4300	6503	SO:0001583	missense	126248							g.chr19:33651385C>T	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"""WD repeat domain containing"""	26999	protein-coding gene	gene with protein product			"""PQQ repeat and WD repeat domain containing"""	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.1063C>T	19.37:g.33651385C>T	ENSP00000348129:p.Arg355Trp					WDR88_ENST00000355868.3_Missense_Mutation_p.R355W	p.R355W			Q6ZMY6	WDR88_HUMAN			8	1141	+	Esophageal squamous(110;0.137)		355					Q8NEF8	Missense_Mutation	SNP	ENST00000355868.3	37	c.1063C>T	CCDS12429.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	C	20.9	4.060039	0.76074	6.81E-4	1.16E-4	ENSG00000166359	ENST00000355868;ENST00000361680	T;T	0.40756	1.02;1.02	5.41	2.97	0.34412	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.826510	0.02943	N	0.140756	T	0.48624	0.1510	L	0.42245	1.32	0.26001	N	0.982111	D	0.76494	0.999	P	0.60609	0.877	T	0.45440	-0.9261	10	0.62326	D	0.03	.	11.2977	0.49288	0.5328:0.4672:0.0:0.0	.	355	Q6ZMY6	WDR88_HUMAN	W	355	ENSP00000348129:R355W;ENSP00000355148:R355W	ENSP00000348129:R355W	R	+	1	2	WDR88	38343225	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.314000	0.33597	1.384000	0.46424	0.585000	0.79938	CGG		0.507	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		88	211	0	0	0	1	0	88	211				
DMD	1756	broad.mit.edu	37	X	32613897	32613897	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chrX:32613897C>G	ENST00000357033.4	-	13	1785	c.1579G>C	c.(1579-1581)Gct>Cct	p.A527P	DMD_ENST00000378677.2_Missense_Mutation_p.A523P|DMD_ENST00000288447.4_Missense_Mutation_p.A519P	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	527			Missing (in BMD).		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)				TCCAAAGCAGCAGTTGCGTGA	0.348																																						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.(1579-1581)Gct>Cct		dystrophin							146.0	117.0	127.0					X																	32613897		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:32613897C>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1579G>C	X.37:g.32613897C>G	ENSP00000354923:p.Ala527Pro					DMD_ENST00000288447.4_Missense_Mutation_p.A519P|DMD_ENST00000378677.2_Missense_Mutation_p.A523P	p.A527P	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			13	1785	-		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)	527		Missing (in BMD).			E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.1579G>C	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477196	0.84640	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.45668	0.89;0.89;0.89	5.74	4.88	0.63580	.	0.201387	0.23263	U	0.050109	T	0.64170	0.2574	M	0.78637	2.42	0.80722	D	1	P;P;D;P	0.76494	0.928;0.852;0.999;0.878	P;P;D;P	0.78314	0.798;0.61;0.991;0.73	T	0.66023	-0.6026	10	0.52906	T	0.07	.	12.7514	0.57310	0.0:0.9178:0.0:0.0822	.	519;519;527;523	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	P	519;523;527;527;404;519	ENSP00000367948:A523P;ENSP00000354923:A527P;ENSP00000288447:A519P	ENSP00000288447:A519P	A	-	1	0	DMD	32523818	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	5.447000	0.66606	1.177000	0.42855	0.538000	0.68166	GCT		0.348	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		7	68	0	0	0	1	0	7	68				
FRG1B	284802	broad.mit.edu	37	20	29628299	29628299	+	Missense_Mutation	SNP	A	A	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr20:29628299A>G	ENST00000278882.3	+	6	681	c.301A>G	c.(301-303)Agt>Ggt	p.S101G	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAGCAAAAAGTAAAACAGC	0.363																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)Agt>Ggt																																						SO:0001583	missense	284802							g.chr20:29628299A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.301A>G	20.37:g.29628299A>G	ENSP00000278882:p.Ser101Gly					FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G	p.S101G							6	681	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.301A>G		.	.	.	.	.	.	.	.	.	.	a	16.61	3.170807	0.57584	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50001	0.76	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	D	0.000001	T	0.38719	0.1051	.	.	.	0.42178	D	0.991671	B;P	0.36483	0.147;0.555	B;B	0.37731	0.138;0.257	T	0.38178	-0.9673	9	0.62326	D	0.03	.	8.0833	0.30758	1.0:0.0:0.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	G	101;106;101	ENSP00000408863:S106G	ENSP00000278882:S101G	S	+	1	0	FRG1B	28241960	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.085000	0.89518	1.208000	0.43306	0.347000	0.21830	AGT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	160	0	0	0	1	0	6	160				
TTLL7	79739	broad.mit.edu	37	1	84417571	84417571	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:84417571C>G	ENST00000260505.8	-	3	491	c.114G>C	c.(112-114)aaG>aaC	p.K38N	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	38	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TAATGGTTCCCTTCTTTTTCT	0.363																																						ENST00000260505.8																			0				kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(112-114)aaG>aaC		tubulin tyrosine ligase-like family, member 7							71.0	74.0	73.0					1																	84417571		2203	4299	6502	SO:0001583	missense	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84417571C>G	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.114G>C	1.37:g.84417571C>G	ENSP00000260505:p.Lys38Asn					TTLL7_ENST00000477524.1_5'UTR	p.K38N	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	3	491	-			38			TTL.		Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	ENST00000260505.8	37	c.114G>C	CCDS690.2	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751971	0.31046	.	.	ENSG00000137941	ENST00000260505;ENST00000370703	T	0.04049	3.72	5.21	-0.245	0.13027	.	0.146882	0.64402	D	0.000011	T	0.00637	0.0021	N	0.12182	0.205	0.39528	D	0.968626	B	0.09022	0.002	B	0.08055	0.003	T	0.45483	-0.9258	10	0.18276	T	0.48	.	0.1895	0.00133	0.2656:0.2787:0.2032:0.2525	.	38	Q6ZT98	TTLL7_HUMAN	N	38	ENSP00000260505:K38N	ENSP00000260505:K38N	K	-	3	2	TTLL7	84190159	0.335000	0.24748	0.999000	0.59377	0.997000	0.91878	0.041000	0.13927	0.296000	0.22592	0.655000	0.94253	AAG		0.363	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686		4	92	0	0	0	1	0	4	92				
ATCAY	85300	broad.mit.edu	37	19	3918841	3918841	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr19:3918841G>C	ENST00000450849.2	+	11	1506	c.1039G>C	c.(1039-1041)Gaa>Caa	p.E347Q	ATCAY_ENST00000398448.3_Missense_Mutation_p.E353Q|RN7SL202P_ENST00000584410.1_RNA|ATCAY_ENST00000600960.1_Missense_Mutation_p.E347Q|ATCAY_ENST00000301260.6_Missense_Mutation_p.E347Q	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	347	Mediates interaction with GLS.				apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GCCCAGGTCTGAAGAGAAGCC	0.632																																						ENST00000450849.2																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)	7						c.(1039-1041)Gaa>Caa		ataxia, cerebellar, Cayman type							60.0	65.0	63.0					19																	3918841		2037	4211	6248	SO:0001583	missense	85300				transport		protein binding	g.chr19:3918841G>C		CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"""Cayman ataxia"", ""caytaxin"""	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.1039G>C	19.37:g.3918841G>C	ENSP00000390941:p.Glu347Gln					ATCAY_ENST00000398448.3_Missense_Mutation_p.E353Q|ATCAY_ENST00000301260.6_Missense_Mutation_p.E347Q|ATCAY_ENST00000600960.1_Missense_Mutation_p.E347Q	p.E347Q	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)	11	1506	+		Hepatocellular(1079;0.137)	347					Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Missense_Mutation	SNP	ENST00000450849.2	37	c.1039G>C	CCDS45923.1	.	.	.	.	.	.	.	.	.	.	G	4.882	0.163920	0.09287	.	.	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448;ENST00000539301	T;T;T	0.37058	1.25;1.25;1.22	2.89	2.89	0.33648	.	1.497250	0.04159	N	0.322664	T	0.27629	0.0679	N	0.24115	0.695	0.29288	N	0.86955	B;B;B	0.12630	0.001;0.006;0.001	B;B;B	0.12156	0.001;0.007;0.001	T	0.11941	-1.0567	10	0.26408	T	0.33	-11.3801	9.4774	0.38880	0.0:0.0:1.0:0.0	.	353;347;347	B4DS11;Q86WG3-3;Q86WG3	.;.;ATCAY_HUMAN	Q	347;347;347;353;325	ENSP00000390941:E347Q;ENSP00000301260:E347Q;ENSP00000381466:E353Q	ENSP00000301260:E347Q	E	+	1	0	ATCAY	3869841	0.987000	0.35691	0.597000	0.28824	0.032000	0.12392	3.299000	0.51826	1.918000	0.55548	0.561000	0.74099	GAA		0.632	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2			17	90	0	0	0	1	0	17	90				
LRP1	4035	broad.mit.edu	37	12	57567641	57567641	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr12:57567641C>G	ENST00000243077.3	+	22	3891	c.3425C>G	c.(3424-3426)tCc>tGc	p.S1142C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1142	LDL-receptor class A 9. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AACTGCGAGTCCCTGGCCTGC	0.602																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(3424-3426)tCc>tGc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						197.0	147.0	164.0					12																	57567641		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57567641C>G	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.3425C>G	12.37:g.57567641C>G	ENSP00000243077:p.Ser1142Cys						p.S1142C	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	22	3891	+			1142			LDL-receptor class A 9.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.3425C>G	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407772	0.62399	.	.	ENSG00000123384	ENST00000243077	D	0.90563	-2.69	5.03	4.14	0.48551	.	0.202194	0.30201	N	0.010162	D	0.90789	0.7108	L	0.58354	1.805	0.80722	D	1	P	0.49961	0.93	P	0.50231	0.635	D	0.90255	0.4296	10	0.49607	T	0.09	.	12.2188	0.54423	0.0:0.9162:0.0:0.0838	.	1142	Q07954	LRP1_HUMAN	C	1142	ENSP00000243077:S1142C	ENSP00000243077:S1142C	S	+	2	0	LRP1	55853908	0.987000	0.35691	1.000000	0.80357	0.979000	0.70002	3.192000	0.50989	1.344000	0.45657	0.491000	0.48974	TCC		0.602	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		27	104	0	0	0	1	0	27	104				
YKT6	10652	broad.mit.edu	37	7	44246048	44246048	+	Silent	SNP	A	A	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr7:44246048A>G	ENST00000223369.2	+	3	339	c.252A>G	c.(250-252)gaA>gaG	p.E84E	YKT6_ENST00000447123.1_3'UTR|YKT6_ENST00000496112.1_Silent_p.E84E	NM_006555.3	NP_006546.1	O15498	YKT6_HUMAN	YKT6 v-SNARE homolog (S. cerevisiae)	84	Longin. {ECO:0000255|PROSITE- ProRule:PRU00231}.				ER to Golgi vesicle-mediated transport (GO:0006888)|metabolic process (GO:0008152)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle docking involved in exocytosis (GO:0006904)|vesicle targeting (GO:0006903)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|SNARE complex (GO:0031201)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						CTGACAATGAATACCCATCCC	0.483																																						ENST00000223369.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(250-252)gaA>gaG		YKT6 v-SNARE homolog (S. cerevisiae)							185.0	149.0	161.0					7																	44246048		2203	4300	6503	SO:0001819	synonymous_variant	10652				ER to Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi|vesicle docking involved in exocytosis|vesicle targeting	cytoplasmic vesicle membrane|cytosol|endoplasmic reticulum|endosome|Golgi membrane|integral to plasma membrane|mitochondrion|SNARE complex	protein-cysteine S-palmitoleyltransferase activity|SNAP receptor activity	g.chr7:44246048A>G	BC007319	CCDS5482.1	7p13	2006-07-07			ENSG00000106636	ENSG00000106636			16959	protein-coding gene	gene with protein product	"""R-SNARE"""	606209				15479160, 15544955	Standard	NM_006555		Approved		uc003tkm.3	O15498	OTTHUMG00000129089	ENST00000223369.2:c.252A>G	7.37:g.44246048A>G						YKT6_ENST00000447123.1_3'UTR|YKT6_ENST00000496112.1_Silent_p.E84E	p.E84E	NM_006555.3	NP_006546.1	O15498	YKT6_HUMAN			3	339	+			84			Longin.		B4DR94|Q53F01|Q6FGU9|Q6IB15	Silent	SNP	ENST00000223369.2	37	c.252A>G	CCDS5482.1																																																																																				0.483	YKT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251125.2	NM_006555		31	73	0	0	0	1	0	31	73				
WDR78	79819	broad.mit.edu	37	1	67370926	67370926	+	Silent	SNP	C	C	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:67370926C>A	ENST00000371026.3	-	2	358	c.303G>T	c.(301-303)ctG>ctT	p.L101L	WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371023.3_Silent_p.L101L|WDR78_ENST00000488333.1_Silent_p.L29L|WDR78_ENST00000371022.3_Silent_p.L101L	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	101					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CTACAGTTTTCAGTTCAGGTG	0.353																																						ENST00000371026.3																			0				NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.(301-303)ctG>ctT		WD repeat domain 78							161.0	157.0	159.0					1																	67370926		2203	4300	6503	SO:0001819	synonymous_variant	79819							g.chr1:67370926C>A	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.303G>T	1.37:g.67370926C>A						WDR78_ENST00000371022.3_Silent_p.L101L|WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371023.3_Silent_p.L101L|WDR78_ENST00000488333.1_Silent_p.L29L	p.L101L	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN			2	358	-			101					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Silent	SNP	ENST00000371026.3	37	c.303G>T	CCDS635.1																																																																																				0.353	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		39	146	1	0	1.67305e-13	1	1.89077e-13	39	146				
TNFAIP6	7130	broad.mit.edu	37	2	152222683	152222683	+	Missense_Mutation	SNP	C	C	T	rs373227124		TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:152222683C>T	ENST00000243347.3	+	3	421	c.346C>T	c.(346-348)Cgt>Tgt	p.R116C	MIR4773-1_ENST00000585225.1_RNA	NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	116	Link. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	TTATGGAATCCGTCTCAATAG	0.428																																						ENST00000243347.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(346-348)Cgt>Tgt		tumor necrosis factor, alpha-induced protein 6		C	CYS/ARG	0,4406		0,0,2203	117.0	113.0	115.0		346	5.2	1.0	2		115	1,8599	1.2+/-3.3	0,1,4299	no	missense	TNFAIP6	NM_007115.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	116/278	152222683	1,13005	2203	4300	6503	SO:0001583	missense	7130				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding	g.chr2:152222683C>T		CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.346C>T	2.37:g.152222683C>T	ENSP00000243347:p.Arg116Cys						p.R116C	NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	3	421	+			116			Link.		Q53TI7|Q8WWI9	Missense_Mutation	SNP	ENST00000243347.3	37	c.346C>T	CCDS2193.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470789	0.43942	0.0	1.16E-4	ENSG00000123610	ENST00000243347	T	0.35421	1.31	5.15	5.15	0.70609	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.72053	0.3413	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80935	-0.1160	10	0.72032	D	0.01	.	18.9653	0.92694	0.0:1.0:0.0:0.0	.	116	P98066	TSG6_HUMAN	C	116	ENSP00000243347:R116C	ENSP00000243347:R116C	R	+	1	0	TNFAIP6	151930929	1.000000	0.71417	0.998000	0.56505	0.082000	0.17680	4.539000	0.60657	2.526000	0.85167	0.563000	0.77884	CGT		0.428	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254834.2	NM_007115		35	109	0	0	0	1	0	35	109				
SUDS3	64426	broad.mit.edu	37	12	118838508	118838508	+	Nonsense_Mutation	SNP	C	C	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr12:118838508C>T	ENST00000543473.1	+	7	874	c.562C>T	c.(562-564)Cga>Tga	p.R188*	SUDS3_ENST00000397564.2_Nonsense_Mutation_p.R189*	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3 homolog (S. cerevisiae)	188	Sin3 interaction domain (SID). {ECO:0000250|UniProtKB:Q8BR65}.				apoptotic process (GO:0006915)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTTGCGGAGGCGACCAAATGA	0.458																																						ENST00000543473.1																			0				breast(1)|lung(1)	2						c.(562-564)Cga>Tga		suppressor of defective silencing 3 homolog (S. cerevisiae)							127.0	123.0	124.0					12																	118838508		1882	4109	5991	SO:0001587	stop_gained	64426				chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding	g.chr12:118838508C>T	AK023801	CCDS44993.1	12q24.23	2006-02-13	2006-02-13		ENSG00000111707	ENSG00000111707			29545	protein-coding gene	gene with protein product	"""sin3A-associated protein, 45kDa"""	608250	"""suppressor of defective silencing 3 homolog (SDS3, S. cerevisiae)"""			11909966	Standard	NM_022491		Approved	SDS3, FLJ00052, SAP45	uc001twz.3	Q9H7L9	OTTHUMG00000168884	ENST00000543473.1:c.562C>T	12.37:g.118838508C>T	ENSP00000443988:p.Arg188*					SUDS3_ENST00000397564.2_Nonsense_Mutation_p.R189*	p.R188*	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN			7	874	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		188			Sin3 interaction domain (SID) (By similarity).		Q4KMQ5|Q8N6H0|Q9H8D2	Nonsense_Mutation	SNP	ENST00000543473.1	37	c.562C>T	CCDS44993.1	.	.	.	.	.	.	.	.	.	.	C	36	5.771606	0.96922	.	.	ENSG00000111707	ENST00000543473;ENST00000397564	.	.	.	4.82	2.83	0.33086	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6867	0.56952	0.4133:0.5867:0.0:0.0	.	.	.	.	X	188;189	.	ENSP00000380695:R189X	R	+	1	2	SUDS3	117322891	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	0.944000	0.29043	1.123000	0.41961	-0.500000	0.04577	CGA		0.458	SUDS3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401504.1	NM_022491		32	100	0	0	0	1	0	32	100				
SAP130	79595	broad.mit.edu	37	2	128767876	128767876	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:128767876G>A	ENST00000259235.3	-	7	1043	c.914C>T	c.(913-915)aCg>aTg	p.T305M	SAP130_ENST00000357702.5_Missense_Mutation_p.T305M|SAP130_ENST00000259234.6_Missense_Mutation_p.T279M	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	305					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.T305M(2)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CGCCGCTGTCGTAGTGATGAC	0.512																																						ENST00000357702.5																			2	Substitution - Missense(2)	p.T305M(2)	lung(2)	NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(913-915)aCg>aTg		Sin3A-associated protein, 130kDa							129.0	111.0	117.0					2																	128767876		2203	4300	6503	SO:0001583	missense	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128767876G>A	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.914C>T	2.37:g.128767876G>A	ENSP00000259235:p.Thr305Met					SAP130_ENST00000259235.3_Missense_Mutation_p.T305M|SAP130_ENST00000259234.6_Missense_Mutation_p.T279M	p.T305M	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	7	1045	-	Colorectal(110;0.1)		305					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	c.914C>T	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967543	0.74131	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.56	5.56	0.83823	.	0.047860	0.85682	D	0.000000	T	0.67258	0.2874	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.966;0.966	T	0.68424	-0.5412	9	0.51188	T	0.08	-21.6007	19.5311	0.95230	0.0:0.0:1.0:0.0	.	305;279;305	B7ZLM3;Q96DP1;Q9H0E3	.;.;SP130_HUMAN	M	305;305;279	.	ENSP00000259234:T279M	T	-	2	0	SAP130	128484346	1.000000	0.71417	0.924000	0.36721	0.838000	0.47535	7.365000	0.79537	2.635000	0.89317	0.467000	0.42956	ACG		0.512	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		23	57	0	0	0	1	0	23	57				
ANK2	287	broad.mit.edu	37	4	114279456	114279456	+	Missense_Mutation	SNP	G	G	A	rs141013157	byFrequency	TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr4:114279456G>A	ENST00000357077.4	+	38	9735	c.9682G>A	c.(9682-9684)Gtg>Atg	p.V3228M	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.V3195M|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3228					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCTCCCCACCGTGCAAACGGG	0.488													G|||	3	0.000599042	0.0008	0.0014	5008	,	,		18646	0.001		0.0	False		,,,				2504	0.0					ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(9682-9684)Gtg>Atg		ankyrin 2, neuronal							85.0	80.0	81.0					4																	114279456		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114279456G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.9682G>A	4.37:g.114279456G>A	ENSP00000349588:p.Val3228Met					ANK2_ENST00000264366.6_Missense_Mutation_p.V3195M|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	p.V3228M	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	9735	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3195					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.9682G>A	CCDS3702.1	3	0.0013736263736263737	1	0.0020325203252032522	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	G	0.006	-2.107305	0.00356	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	T;T;D	0.96200	-0.29;-0.3;-3.94	5.46	-8.69	0.00855	.	0.855681	0.10319	N	0.689001	T	0.79511	0.4458	N	0.01874	-0.695	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.72727	-0.4206	10	0.22706	T	0.39	.	3.7681	0.08630	0.2916:0.3374:0.2878:0.0831	.	3195;3228	Q01484;Q01484-4	ANK2_HUMAN;.	M	3228;3195;238	ENSP00000349588:V3228M;ENSP00000264366:V3195M;ENSP00000422498:V238M	ENSP00000264366:V3195M	V	+	1	0	ANK2	114498905	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.419000	0.07071	-0.961000	0.03609	-0.414000	0.06135	GTG		0.488	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		40	50	0	0	0	1	0	40	50				
SETX	23064	broad.mit.edu	37	9	135205857	135205857	+	Silent	SNP	T	T	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr9:135205857T>C	ENST00000224140.5	-	10	1310	c.1128A>G	c.(1126-1128)ccA>ccG	p.P376P	SETX_ENST00000372169.2_Silent_p.P376P|SETX_ENST00000393220.1_Silent_p.P376P	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	376					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GACAATAATCTGGGCAAATGG	0.383																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(1126-1128)ccA>ccG		senataxin							64.0	56.0	59.0					9																	135205857		2202	4300	6502	SO:0001819	synonymous_variant	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135205857T>C	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.1128A>G	9.37:g.135205857T>C						SETX_ENST00000393220.1_Silent_p.P376P|SETX_ENST00000224140.5_Silent_p.P376P	p.P376P			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	1310	-		Myeloproliferative disorder(178;0.204)	376					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	ENST00000224140.5	37	c.1128A>G	CCDS6947.1																																																																																				0.383	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		9	139	0	0	0	1	0	9	139				
ZNF366	167465	broad.mit.edu	37	5	71743155	71743155	+	Silent	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr5:71743155G>A	ENST00000318442.5	-	4	2104	c.1614C>T	c.(1612-1614)tgC>tgT	p.C538C		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	538	Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		ATTTGCTTGGGCAATAGAGGC	0.512																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(1612-1614)tgC>tgT		zinc finger protein 366							175.0	168.0	170.0					5																	71743155		2203	4300	6503	SO:0001819	synonymous_variant	167465				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71743155G>A	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1614C>T	5.37:g.71743155G>A							p.C538C	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	4	2104	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	538					Q5HYI9|Q7RTV4	Silent	SNP	ENST00000318442.5	37	c.1614C>T	CCDS4015.1																																																																																				0.512	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			4	128	0	0	0	1	0	4	128				
MFAP4	4239	broad.mit.edu	37	17	19288009	19288009	+	Silent	SNP	G	G	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr17:19288009G>C	ENST00000299610.4	-	6	618	c.534C>G	c.(532-534)tcC>tcG	p.S178S	MFAP4_ENST00000574313.2_5'Flank|MFAP4_ENST00000497081.2_Silent_p.S203S|MFAP4_ENST00000395592.2_Silent_p.S202S	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	178	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cellular response to UV-B (GO:0071493)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|regulation of collagen metabolic process (GO:0010712)|UV protection (GO:0009650)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CACTGTGGTAGGACAGGGAGT	0.612																																						ENST00000395592.2																			0				large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10						c.(604-606)tcC>tcG		microfibrillar-associated protein 4							73.0	80.0	77.0					17																	19288009		2203	4300	6503	SO:0001819	synonymous_variant	4239				cell adhesion|signal transduction	microfibril	receptor binding	g.chr17:19288009G>C	L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482		"""Fibrinogen C domain containing"""	7035	protein-coding gene	gene with protein product	"""microfibril-associated glycoprotein 4"""	600596				7633408	Standard	NM_001198695		Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000299610.4:c.534C>G	17.37:g.19288009G>C						MFAP4_ENST00000299610.4_Silent_p.S178S|MFAP4_ENST00000497081.2_Silent_p.S203S	p.S202S	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN			6	677	-	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		178			Fibrinogen C-terminal.		A8KAJ1|A8MVM2|B4E317|Q6P680	Silent	SNP	ENST00000299610.4	37	c.606C>G	CCDS11208.1																																																																																				0.612	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132493.2	NM_002404		10	130	0	0	0	1	0	10	130				
OAS1	4938	broad.mit.edu	37	12	113346584	113346584	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr12:113346584G>A	ENST00000202917.5	+	2	687	c.424G>A	c.(424-426)Ggg>Agg	p.G142R	RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000551241.1_Missense_Mutation_p.G142R|OAS1_ENST00000553185.1_Missense_Mutation_p.G142R|OAS1_ENST00000445409.2_Missense_Mutation_p.G142R|OAS1_ENST00000452357.2_Missense_Mutation_p.G142R	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	142					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GCTCCAGCTCGGGGAGGGGGT	0.572																																						ENST00000452357.2																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						c.(424-426)Ggg>Agg		2'-5'-oligoadenylate synthetase 1, 40/46kDa							87.0	82.0	84.0					12																	113346584		2203	4300	6503	SO:0001583	missense	4938				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113346584G>A	X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"""2',5'-oligoadenylate synthetase 1 (40-46 kD)"""	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.424G>A	12.37:g.113346584G>A	ENSP00000202917:p.Gly142Arg					OAS1_ENST00000553185.1_Missense_Mutation_p.G142R|OAS1_ENST00000202917.5_Missense_Mutation_p.G142R|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Missense_Mutation_p.G142R|OAS1_ENST00000551241.1_Missense_Mutation_p.G142R	p.G142R	NM_002534.2	NP_002525.2	P00973	OAS1_HUMAN			2	614	+			142			Necessary for binding to dsRNA.		A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	ENST00000202917.5	37	c.424G>A	CCDS41838.1	.	.	.	.	.	.	.	.	.	.	G	3.533	-0.095237	0.07010	.	.	ENSG00000089127	ENST00000202917;ENST00000445409;ENST00000452357;ENST00000549820;ENST00000551241;ENST00000377508;ENST00000553185;ENST00000550689	T;T;T;T;T;T	0.08193	3.12;3.12;3.12;3.12;3.12;3.12	4.33	-5.86	0.02304	.	2.414330	0.01727	N	0.028627	T	0.04048	0.0113	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B	0.13145	0.007;0.002;0.005;0.003;0.005;0.003	B;B;B;B;B;B	0.11329	0.006;0.002;0.004;0.002;0.005;0.005	T	0.34950	-0.9808	10	0.14252	T	0.57	1.2751	3.2248	0.06728	0.22:0.1846:0.4449:0.1505	.	142;142;142;142;142;142	B4DWE7;E7EMI9;F8VXY3;P00973;P00973-3;P00973-2	.;.;.;OAS1_HUMAN;.;.	R	142;142;142;142;142;142;142;138	ENSP00000202917:G142R;ENSP00000388001:G142R;ENSP00000415721:G142R;ENSP00000448790:G142R;ENSP00000448001:G142R;ENSP00000448348:G138R	ENSP00000202917:G142R	G	+	1	0	OAS1	111830967	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-6.766000	0.00054	-1.473000	0.01881	-2.796000	0.00114	GGG		0.572	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2			24	97	0	0	0	1	0	24	97				
ZNF441	126068	broad.mit.edu	37	19	11891225	11891225	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr19:11891225C>T	ENST00000357901.4	+	4	688	c.586C>T	c.(586-588)Cgt>Tgt	p.R196C	ZNF441_ENST00000454339.2_Missense_Mutation_p.R129C	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGATGGACCTCGTATATGTAA	0.398																																						ENST00000357901.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(586-588)Cgt>Tgt		zinc finger protein 441							147.0	139.0	142.0					19																	11891225		2203	4300	6503	SO:0001583	missense	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11891225C>T	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.586C>T	19.37:g.11891225C>T	ENSP00000350576:p.Arg196Cys					ZNF441_ENST00000454339.2_Missense_Mutation_p.R129C	p.R196C	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN			4	688	+			196						Missense_Mutation	SNP	ENST00000357901.4	37	c.586C>T	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	c	5.030	0.191238	0.09547	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.14893	2.47;2.47	0.859	-0.235	0.13071	Zinc finger, C2H2 (1);	.	.	.	.	T	0.04998	0.0134	N	0.01257	-0.925	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34129	-0.9841	9	0.66056	D	0.02	.	3.0451	0.06151	0.0:0.3062:0.0:0.6938	.	196	Q8N8Z8	ZN441_HUMAN	C	152;196;129	ENSP00000350576:R196C;ENSP00000403738:R129C	ENSP00000350576:R196C	R	+	1	0	ZNF441	11752225	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.022000	0.13511	-0.179000	0.10654	-0.979000	0.02580	CGT		0.398	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		6	191	0	0	0	1	0	6	191				
GTSE1	51512	broad.mit.edu	37	22	46709813	46709813	+	Missense_Mutation	SNP	A	A	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr22:46709813A>T	ENST00000454366.1	+	6	1166	c.954A>T	c.(952-954)aaA>aaT	p.K318N		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	299					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CCCTGTTAAAAGCACCCGGCT	0.507											OREG0026653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(153;542 1915 12487 29016 50495)	ENST00000454366.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27						c.(952-954)aaA>aaT		G-2 and S-phase expressed 1							74.0	79.0	77.0					22																	46709813		2203	4300	6503	SO:0001583	missense	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46709813A>T	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.954A>T	22.37:g.46709813A>T	ENSP00000415430:p.Lys318Asn		OREG0026653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	941		p.K318N	NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	6	1166	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	299					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	c.954A>T	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	A	17.86	3.492815	0.64074	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.16073	2.37	4.42	-5.59	0.02505	.	0.407371	0.27004	N	0.021417	T	0.28167	0.0695	L	0.49126	1.545	0.09310	N	0.999996	D	0.67145	0.996	D	0.65573	0.936	T	0.17561	-1.0365	10	0.87932	D	0	-13.4654	15.0514	0.71872	0.2653:0.0:0.7347:0.0	.	299	Q9NYZ3	GTSE1_HUMAN	N	318;278	ENSP00000415430:K318N	ENSP00000354634:K278N	K	+	3	2	GTSE1	45088477	0.000000	0.05858	0.000000	0.03702	0.257000	0.26127	-0.453000	0.06778	-1.274000	0.02421	0.533000	0.62120	AAA		0.507	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		72	109	0	0	0	1	0	72	109				
C14orf93	60686	broad.mit.edu	37	14	23457183	23457183	+	Missense_Mutation	SNP	G	G	A	rs201780521		TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr14:23457183G>A	ENST00000299088.6	-	6	1555	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	RP11-298I3.4_ENST00000557615.1_RNA|C14orf93_ENST00000406429.2_Missense_Mutation_p.R376C|C14orf93_ENST00000397379.3_Missense_Mutation_p.R376C|C14orf93_ENST00000397382.4_Missense_Mutation_p.R376C|C14orf93_ENST00000341470.4_Missense_Mutation_p.R376C|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000397377.1_Missense_Mutation_p.R196C|RP11-298I3.4_ENST00000555294.1_RNA	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	376						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		AGGGAGTTGCGGTACTCACGC	0.532																																						ENST00000299088.6																			0				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(1126-1128)Cgc>Tgc		chromosome 14 open reading frame 93			CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	97.0	95.0	96.0		1126,1126,1126	5.2	1.0	14		96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	C14orf93	NM_001130706.1,NM_001130708.1,NM_021944.2	180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	376/539,376/539,376/539	23457183	1,13005	2203	4300	6503	SO:0001583	missense	60686					extracellular region		g.chr14:23457183G>A	AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.1126C>T	14.37:g.23457183G>A	ENSP00000299088:p.Arg376Cys					RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000406429.2_Missense_Mutation_p.R376C|C14orf93_ENST00000397377.1_Missense_Mutation_p.R196C|C14orf93_ENST00000397379.3_Missense_Mutation_p.R376C|C14orf93_ENST00000397382.4_Missense_Mutation_p.R376C|C14orf93_ENST00000341470.4_Missense_Mutation_p.R376C|RP11-298I3.4_ENST00000557615.1_RNA|RP11-298I3.4_ENST00000555294.1_RNA	p.R376C	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN		GBM - Glioblastoma multiforme(265;0.0127)	6	1555	-	all_cancers(95;3.3e-05)		376					B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Missense_Mutation	SNP	ENST00000299088.6	37	c.1126C>T	CCDS9583.1	.	.	.	.	.	.	.	.	.	.	g	24.6	4.550022	0.86127	0.0	1.16E-4	ENSG00000100802	ENST00000299088;ENST00000341470;ENST00000397379;ENST00000397382;ENST00000397377;ENST00000406429	T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000008	T	0.55513	0.1925	N	0.08118	0	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.66893	-0.5808	10	0.87932	D	0	-40.8057	17.4752	0.87658	0.0:0.0:1.0:0.0	.	376;376	Q9H972;Q9H972-2	CN093_HUMAN;.	C	376;376;376;376;196;376	ENSP00000299088:R376C;ENSP00000341353:R376C;ENSP00000380535:R376C;ENSP00000380538:R376C;ENSP00000380533:R196C;ENSP00000384768:R376C	ENSP00000299088:R376C	R	-	1	0	C14orf93	22527023	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	6.296000	0.72751	2.415000	0.81967	0.645000	0.84053	CGC		0.532	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071688.5	NM_021944		94	129	0	0	0	1	0	94	129				
CBX6	23466	broad.mit.edu	37	22	39267494	39267494	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr22:39267494G>T	ENST00000407418.3	-	4	360	c.237C>A	c.(235-237)ttC>ttA	p.F79L	CBX6_ENST00000216083.6_Missense_Mutation_p.F79L			O95503	CBX6_HUMAN	chromobox homolog 6	79					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					CCTTCAGGAGGAAAGTTTTGG	0.642																																						ENST00000407418.3																			0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(235-237)ttC>ttA		chromobox homolog 6							107.0	111.0	109.0					22																	39267494		2203	4300	6503	SO:0001583	missense	23466				chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex		g.chr22:39267494G>T		CCDS13980.1	22q13.1	2013-04-23			ENSG00000183741	ENSG00000183741			1556	protein-coding gene	gene with protein product							Standard	NM_014292		Approved		uc003awl.3	O95503	OTTHUMG00000150456	ENST00000407418.3:c.237C>A	22.37:g.39267494G>T	ENSP00000384490:p.Phe79Leu					CBX6_ENST00000216083.6_Missense_Mutation_p.F79L	p.F79L			O95503	CBX6_HUMAN			4	360	-	Melanoma(58;0.04)		79					A8KAH0|Q96EM5	Missense_Mutation	SNP	ENST00000407418.3	37	c.237C>A	CCDS13980.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152316	0.38021	.	.	ENSG00000183741	ENST00000407418;ENST00000216083	.	.	.	4.41	4.41	0.53225	.	1.737990	0.03215	N	0.176650	T	0.50820	0.1638	L	0.38175	1.15	0.80722	D	1	B;B	0.20052	0.041;0.024	B;B	0.15870	0.014;0.014	T	0.09618	-1.0666	9	0.18710	T	0.47	.	11.1412	0.48404	0.0991:0.0:0.9009:0.0	.	79;79	B3KT27;O95503	.;CBX6_HUMAN	L	79	.	ENSP00000216083:F79L	F	-	3	2	CBX6	37597440	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	0.902000	0.28459	1.985000	0.57927	0.462000	0.41574	TTC		0.642	CBX6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318190.1	NM_014292		12	106	1	0	0.000151284	1	0.000156012	12	106				
KIAA1109	84162	broad.mit.edu	37	4	123145812	123145812	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr4:123145812G>T	ENST00000264501.4	+	23	3146	c.2773G>T	c.(2773-2775)Gct>Tct	p.A925S	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.A925S|KIAA1109_ENST00000388738.3_Missense_Mutation_p.A925S			Q2LD37	K1109_HUMAN	KIAA1109	925					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAGTCTTACAGCTAAGGTCAC	0.438																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(2773-2775)Gct>Tct		KIAA1109							121.0	122.0	122.0					4																	123145812		1955	4150	6105	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123145812G>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.2773G>T	4.37:g.123145812G>T	ENSP00000264501:p.Ala925Ser					KIAA1109_ENST00000388738.3_Missense_Mutation_p.A925S|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.A925S	p.A925S			Q2LD37	K1109_HUMAN			23	3146	+			925					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.2773G>T	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.1|23.1	4.369711|4.369711	0.82573|0.82573	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637;ENST00000449251|ENST00000424425	T;T;T;T|.	0.47528|.	0.84;0.84;0.84;0.84|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.156315|.	0.26045|.	U|.	0.026664|.	T|T	0.58609|0.58609	0.2134|0.2134	L|L	0.29908|0.29908	0.895|0.895	0.50467|0.50467	D|D	0.99987|0.99987	D;B|.	0.61697|.	0.99;0.39|.	P;B|.	0.57371|.	0.819;0.079|.	T|T	0.52837|0.52837	-0.8522|-0.8522	10|5	0.72032|.	D|.	0.01|.	.|.	19.1724|19.1724	0.93583|0.93583	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	925;925|.	Q2LD37-5;Q2LD37|.	.;K1109_HUMAN|.	S|I	925;925;925;133|756	ENSP00000264501:A925S;ENSP00000373390:A925S;ENSP00000389925:A925S;ENSP00000413018:A133S|.	ENSP00000264501:A925S|.	A|S	+|+	1|2	0|0	KIAA1109|KIAA1109	123365262|123365262	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	9.731000|9.731000	0.98807|0.98807	2.613000|2.613000	0.88420|0.88420	0.591000|0.591000	0.81541|0.81541	GCT|AGC		0.438	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		15	52	1	0	6.72482e-11	1	7.44695e-11	15	52				
TUBD1	51174	broad.mit.edu	37	17	57955576	57955576	+	Silent	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr17:57955576G>A	ENST00000592426.1	-	4	657	c.657C>T	c.(655-657)atC>atT	p.I219I	TUBD1_ENST00000591611.1_5'Flank|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000376094.4_Silent_p.I219I|TUBD1_ENST00000394239.3_Silent_p.I219I|TUBD1_ENST00000325752.3_Silent_p.I219I|TUBD1_ENST00000539018.1_Silent_p.I3I|TUBD1_ENST00000340993.6_Silent_p.I219I			Q9UJT1	TBD_HUMAN	tubulin, delta 1	219					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	AGATCTGCTTGATATTCATCA	0.428																																						ENST00000325752.3																			0				NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21						c.(655-657)atC>atT		tubulin, delta 1							205.0	168.0	181.0					17																	57955576		2203	4300	6503	SO:0001819	synonymous_variant	51174				cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	g.chr17:57955576G>A	AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.657C>T	17.37:g.57955576G>A						TUBD1_ENST00000539018.1_Silent_p.I3I|TUBD1_ENST00000592426.1_Silent_p.I219I|TUBD1_ENST00000340993.6_Silent_p.I219I|TUBD1_ENST00000376094.4_Silent_p.I219I|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000394239.3_Silent_p.I219I	p.I219I	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		5	934	-	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		219					B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Silent	SNP	ENST00000592426.1	37	c.657C>T	CCDS11620.1																																																																																				0.428	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261		4	104	0	0	0	1	0	4	104				
TG	7038	broad.mit.edu	37	8	133899690	133899690	+	Silent	SNP	A	A	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr8:133899690A>G	ENST00000220616.4	+	9	2113	c.2073A>G	c.(2071-2073)ggA>ggG	p.G691G	TG_ENST00000377869.1_Silent_p.G691G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	691	Thyroglobulin type-1 6. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTAGTGAGGGACATTTCCTGC	0.547																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(2071-2073)ggA>ggG		thyroglobulin							77.0	72.0	74.0					8																	133899690		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133899690A>G	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2073A>G	8.37:g.133899690A>G						TG_ENST00000377869.1_Silent_p.G691G	p.G691G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	9	2113	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	691			Thyroglobulin type-1 6.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.2073A>G	CCDS34944.1																																																																																				0.547	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		4	130	0	0	0	1	0	4	130				
RPL10	6134	broad.mit.edu	37	X	153627858	153627858	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chrX:153627858G>A	ENST00000369817.2	+	5	689	c.113G>A	c.(112-114)cGg>cAg	p.R38Q	RPL10_ENST00000406022.2_5'UTR|SNORA70_ENST00000384436.1_RNA|RPL10_ENST00000424325.2_Missense_Mutation_p.R38Q			P27635	RL10_HUMAN	ribosomal protein L10	38					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	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)					GACCTGGGGCGGAAAAAGGCA	0.512											OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000424325.2																			0				large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(112-114)cGg>cAg		ribosomal protein L10							134.0	130.0	132.0					X																	153627858		2203	4300	6503	SO:0001583	missense	6134				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome	g.chrX:153627858G>A	AB007170	CCDS14746.1, CCDS76059.1	Xq28	2011-04-06			ENSG00000147403	ENSG00000147403		"""L ribosomal proteins"""	10298	protein-coding gene	gene with protein product		312173				9582194	Standard	NM_006013		Approved	NOV, QM, DXS648E, DXS648, FLJ23544, L10	uc004fkm.2	P27635	OTTHUMG00000033189	ENST00000369817.2:c.113G>A	X.37:g.153627858G>A	ENSP00000358832:p.Arg38Gln		OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1757	RPL10_ENST00000369817.2_Missense_Mutation_p.R38Q|RPL10_ENST00000406022.2_5'UTR	p.R38Q	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN			4	301	+	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)		38					A3KQT0|D3DWW6|Q16470|Q2HXT7|Q53FH7|Q6FGN8|Q8TDA5	Missense_Mutation	SNP	ENST00000369817.2	37	c.113G>A	CCDS14746.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655378	0.67586	.	.	ENSG00000147403	ENST00000369817;ENST00000424325;ENST00000436473;ENST00000344746;ENST00000458500;ENST00000451365	T;T;T	0.72394	-0.65;-0.65;-0.65	5.07	4.21	0.49690	Ribosomal protein L10e/L16 (2);	0.000000	0.64402	U	0.000002	T	0.66809	0.2827	M	0.80746	2.51	0.58432	D	0.999992	P;B	0.34615	0.459;0.011	B;B	0.22601	0.04;0.005	T	0.66674	-0.5864	10	0.48119	T	0.1	-15.5504	10.6282	0.45521	0.0965:0.0:0.9035:0.0	.	38;38	A6QRI9;P27635	.;RL10_HUMAN	Q	38;38;38;38;38;21	ENSP00000358832:R38Q;ENSP00000413436:R38Q;ENSP00000341730:R38Q	ENSP00000341730:R38Q	R	+	2	0	RPL10	153281052	1.000000	0.71417	0.999000	0.59377	0.931000	0.56810	9.113000	0.94321	0.925000	0.37094	-0.190000	0.12839	CGG		0.512	RPL10-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127774.5	NM_006013		4	220	0	0	0	1	0	4	220				
LAMA5	3911	broad.mit.edu	37	20	60908967	60908967	+	Silent	SNP	G	G	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr20:60908967G>C	ENST00000252999.3	-	23	2934	c.2868C>G	c.(2866-2868)acC>acG	p.T956T	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	956	Domain IV 1 (domain IV B).			T -> A (in Ref. 1; AAM12527). {ECO:0000305}.	angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			AGTTGGCGCAGGTGGCCGACC	0.697																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(2866-2868)acC>acG		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						23.0	17.0	19.0					20																	60908967		2192	4269	6461	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60908967G>C	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.2868C>G	20.37:g.60908967G>C							p.T956T	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		23	2934	-	Breast(26;1.57e-08)		956	T -> A (in Ref. 1; AAM12527).		Domain IV 1 (domain IV B).		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.2868C>G	CCDS33502.1																																																																																				0.697	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		4	14	0	0	0	1	0	4	14				
BIRC6	57448	broad.mit.edu	37	2	32689715	32689715	+	Missense_Mutation	SNP	A	A	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:32689715A>T	ENST00000421745.2	+	25	5214	c.5080A>T	c.(5080-5082)Att>Ttt	p.I1694F		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1694					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATCTGATGTTATTCCACCCAC	0.493																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(5080-5082)Att>Ttt		baculoviral IAP repeat containing 6							144.0	129.0	134.0					2																	32689715		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32689715A>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.5080A>T	2.37:g.32689715A>T	ENSP00000393596:p.Ile1694Phe						p.I1694F	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			25	5214	+	Acute lymphoblastic leukemia(172;0.155)		1694					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.5080A>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	19.88	3.909343	0.72868	.	.	ENSG00000115760	ENST00000421745	T	0.77098	-1.07	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.71091	0.3299	L	0.37630	1.12	0.80722	D	1	B	0.12630	0.006	B	0.11329	0.006	T	0.66089	-0.6010	10	0.44086	T	0.13	.	16.2302	0.82332	1.0:0.0:0.0:0.0	.	1694	Q9NR09	BIRC6_HUMAN	F	1694	ENSP00000393596:I1694F	ENSP00000393596:I1694F	I	+	1	0	BIRC6	32543219	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.327000	0.79147	2.228000	0.72767	0.533000	0.62120	ATT		0.493	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		16	38	0	0	0	1	0	16	38				
HOOK2	29911	broad.mit.edu	37	19	12883692	12883692	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr19:12883692G>A	ENST00000397668.3	-	5	363	c.290C>T	c.(289-291)cCa>cTa	p.P97L	HOOK2_ENST00000264827.5_Missense_Mutation_p.P97L|HOOK2_ENST00000589965.1_Intron	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	97	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GCTCACATCTGGGAGATGCTC	0.602																																						ENST00000264827.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						c.(289-291)cCa>cTa		hook microtubule-tethering protein 2							61.0	62.0	62.0					19																	12883692		1941	4126	6067	SO:0001583	missense	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12883692G>A	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.290C>T	19.37:g.12883692G>A	ENSP00000380785:p.Pro97Leu					HOOK2_ENST00000397668.3_Missense_Mutation_p.P97L|HOOK2_ENST00000589965.1_Intron	p.P97L	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN			5	460	-			97			Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules.		O60562	Missense_Mutation	SNP	ENST00000397668.3	37	c.290C>T	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027370	0.75390	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.48836	0.8;0.8	3.64	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.72301	0.3443	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79827	-0.1639	10	0.87932	D	0	-11.7042	14.4602	0.67442	0.0:0.0:1.0:0.0	.	97;97	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	L	97	ENSP00000380785:P97L;ENSP00000264827:P97L	ENSP00000264827:P97L	P	-	2	0	HOOK2	12744692	1.000000	0.71417	0.848000	0.33437	0.670000	0.39368	9.309000	0.96252	1.734000	0.51633	0.455000	0.32223	CCA		0.602	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		8	93	0	0	0	1	0	8	93				
PPRC1	23082	broad.mit.edu	37	10	103897697	103897697	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr10:103897697G>A	ENST00000278070.2	+	2	283	c.244G>A	c.(244-246)Gag>Aag	p.E82K	PPRC1_ENST00000413464.2_Missense_Mutation_p.E82K	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	82					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GGAAATGGAGGAGCTAATGCT	0.562																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(244-246)Gag>Aag		peroxisome proliferator-activated receptor gamma, coactivator-related 1							110.0	97.0	102.0					10																	103897697		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103897697G>A	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.244G>A	10.37:g.103897697G>A	ENSP00000278070:p.Glu82Lys					PPRC1_ENST00000413464.2_Missense_Mutation_p.E82K	p.E82K	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	2	283	+		Colorectal(252;0.122)	82					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.244G>A	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.426849	0.62733	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.64803	-0.12;-0.12	5.19	5.19	0.71726	.	0.656003	0.14379	N	0.323232	T	0.46328	0.1387	N	0.19112	0.55	0.24664	N	0.993455	B;B	0.18461	0.028;0.028	B;B	0.13407	0.009;0.009	T	0.36016	-0.9765	10	0.72032	D	0.01	.	8.784	0.34809	0.1356:0.0:0.8644:0.0	.	82;82	E7EVG6;Q5VV67	.;PPRC1_HUMAN	K	82	ENSP00000278070:E82K;ENSP00000399743:E82K	ENSP00000278070:E82K	E	+	1	0	PPRC1	103887687	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.592000	0.53993	2.611000	0.88343	0.555000	0.69702	GAG		0.562	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		28	31	0	0	0	1	0	28	31				
FRG1B	284802	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr20:29628278G>A	ENST00000278882.3	+	6	660	c.280G>A	c.(280-282)Gca>Aca	p.A94T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	94										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(280-282)Gca>Aca																																						SO:0001583	missense	284802							g.chr20:29628278G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.280G>A	20.37:g.29628278G>A	ENSP00000278882:p.Ala94Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T	p.A94T							6	660	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.280G>A		.	.	.	.	.	.	.	.	.	.	g	9.994	1.231660	0.22626	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44083	0.93	2.08	2.08	0.27032	Actin cross-linking (1);	0.286587	0.39083	N	0.001478	T	0.22898	0.0553	.	.	.	0.21290	N	0.99973	B;B	0.12630	0.0;0.006	B;B	0.12156	0.002;0.007	T	0.15407	-1.0438	9	0.16420	T	0.52	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	99;94	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	94;99;94	ENSP00000408863:A99T	ENSP00000278882:A94T	A	+	1	0	FRG1B	28241939	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.196000	0.58407	1.475000	0.48197	0.423000	0.28283	GCA		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		9	190	0	0	0	1	0	9	190				
TMEM176A	55365	broad.mit.edu	37	7	150499411	150499411	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr7:150499411G>A	ENST00000484928.1	+	3	864	c.283G>A	c.(283-285)Gtg>Atg	p.V95M	TMEM176A_ENST00000004103.3_Missense_Mutation_p.V95M|TMEM176B_ENST00000492607.1_5'Flank|TMEM176B_ENST00000450753.2_5'Flank|TMEM176A_ENST00000461345.1_Missense_Mutation_p.V36M|TMEM176B_ENST00000326442.5_5'Flank|TMEM176B_ENST00000434545.1_5'Flank|TMEM176B_ENST00000447204.2_5'Flank			Q96HP8	T176A_HUMAN	transmembrane protein 176A	95					negative regulation of dendritic cell differentiation (GO:2001199)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACAGGGGCTGTGGTGAGTAG	0.582																																						ENST00000484928.1																			0				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12						c.(283-285)Gtg>Atg		transmembrane protein 176A							93.0	73.0	80.0					7																	150499411		2203	4300	6503	SO:0001583	missense	55365					integral to membrane		g.chr7:150499411G>A	AF258340	CCDS5909.1	7q36.1	2006-09-04			ENSG00000002933	ENSG00000002933			24930	protein-coding gene	gene with protein product		610334				12097419, 8889548	Standard	NM_018487		Approved	HCA112	uc003whx.1	Q96HP8	OTTHUMG00000158114	ENST00000484928.1:c.283G>A	7.37:g.150499411G>A	ENSP00000417626:p.Val95Met					TMEM176A_ENST00000461345.1_Missense_Mutation_p.V36M|TMEM176A_ENST00000004103.3_Missense_Mutation_p.V95M	p.V95M			Q96HP8	T176A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	864	+			95					D3DX00|Q9NYC7	Missense_Mutation	SNP	ENST00000484928.1	37	c.283G>A	CCDS5909.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.441301	0.25900	.	.	ENSG00000002933	ENST00000484928;ENST00000004103;ENST00000461345;ENST00000475536;ENST00000468689	T;T;T;T;T	0.41758	4.35;4.35;0.99;4.35;0.99	4.6	2.74	0.32292	.	0.295898	0.31071	N	0.008308	T	0.32971	0.0847	L	0.47716	1.5	0.27848	N	0.940841	P	0.47253	0.892	B	0.41510	0.359	T	0.23762	-1.0179	10	0.59425	D	0.04	-21.3334	6.4802	0.22060	0.0997:0.1825:0.7178:0.0	.	95	Q96HP8	T176A_HUMAN	M	95;95;36;47;36	ENSP00000417626:V95M;ENSP00000004103:V95M;ENSP00000420818:V36M;ENSP00000417834:V47M;ENSP00000420081:V36M	ENSP00000004103:V95M	V	+	1	0	TMEM176A	150130344	0.976000	0.34144	0.608000	0.28969	0.273000	0.26683	2.022000	0.41030	0.631000	0.30412	-0.254000	0.11334	GTG		0.582	TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350222.1	NM_018487		9	39	0	0	0	1	0	9	39				
RTN3	10313	broad.mit.edu	37	11	63520082	63520082	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr11:63520082C>G	ENST00000377819.5	+	5	2996	c.2842C>G	c.(2842-2844)Ctc>Gtc	p.L948V	RTN3_ENST00000540798.1_Missense_Mutation_p.L836V|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000356000.3_Missense_Mutation_p.L171V|RTN3_ENST00000537981.1_Missense_Mutation_p.L152V|RTN3_ENST00000339997.4_Missense_Mutation_p.L929V|RTN3_ENST00000341307.2_Missense_Mutation_p.L152V	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	948	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CATTATTCGTCTCTTTCTGGT	0.438																																						ENST00000377819.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(2842-2844)Ctc>Gtc		reticulon 3							188.0	179.0	182.0					11																	63520082		2201	4298	6499	SO:0001583	missense	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63520082C>G	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.2842C>G	11.37:g.63520082C>G	ENSP00000367050:p.Leu948Val					RTN3_ENST00000341307.2_Missense_Mutation_p.L152V|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.L929V|RTN3_ENST00000356000.3_Missense_Mutation_p.L171V|RTN3_ENST00000540798.1_Missense_Mutation_p.L836V|RTN3_ENST00000537981.1_Missense_Mutation_p.L152V	p.L948V	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN			5	2996	+			948			Reticulon.		B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	37	c.2842C>G	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.919937	0.92249	.	.	ENSG00000133318	ENST00000341307;ENST00000356000;ENST00000542238;ENST00000377819;ENST00000339997;ENST00000540798;ENST00000537981	T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.77025	0.4070	M	0.86740	2.835	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.996;0.999;0.997;0.995;1.0	D;D;D;D;D;D	0.87578	0.998;0.981;0.997;0.95;0.967;0.996	T	0.80815	-0.1214	10	0.87932	D	0	-10.3975	17.1877	0.86870	0.0:1.0:0.0:0.0	.	836;948;152;152;929;171	F5H774;O95197;O95197-5;O95197-3;O95197-2;O95197-4	.;RTN3_HUMAN;.;.;.;.	V	152;171;178;948;929;836;152	ENSP00000340903:L152V;ENSP00000348279:L171V;ENSP00000437971:L178V;ENSP00000367050:L948V;ENSP00000344106:L929V;ENSP00000442733:L836V;ENSP00000440874:L152V	ENSP00000344106:L929V	L	+	1	0	RTN3	63276658	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	7.610000	0.82949	2.660000	0.90430	0.455000	0.32223	CTC		0.438	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		86	175	0	0	0	1	0	86	175				
LRRC30	339291	broad.mit.edu	37	18	7231786	7231786	+	Missense_Mutation	SNP	A	A	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr18:7231786A>T	ENST00000383467.2	+	1	664	c.650A>T	c.(649-651)gAg>gTg	p.E217V		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	217										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TTCATCGCAGAGGGCAACAAC	0.562																																						ENST00000383467.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(649-651)gAg>gTg		leucine rich repeat containing 30							61.0	66.0	65.0					18																	7231786		2135	4252	6387	SO:0001583	missense	339291							g.chr18:7231786A>T		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.650A>T	18.37:g.7231786A>T	ENSP00000372959:p.Glu217Val						p.E217V	NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN			1	664	+			217						Missense_Mutation	SNP	ENST00000383467.2	37	c.650A>T	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.262311	0.59431	.	.	ENSG00000206422	ENST00000383467	T	0.25414	1.8	5.95	5.95	0.96441	.	0.045671	0.85682	D	0.000000	T	0.46718	0.1407	M	0.69185	2.1	0.80722	D	1	D	0.76494	0.999	D	0.65233	0.933	T	0.28038	-1.0056	10	0.21540	T	0.41	.	16.4323	0.83853	1.0:0.0:0.0:0.0	.	217	A6NM36	LRC30_HUMAN	V	217	ENSP00000372959:E217V	ENSP00000372959:E217V	E	+	2	0	LRRC30	7221786	1.000000	0.71417	0.147000	0.22382	0.120000	0.20174	8.962000	0.93254	2.281000	0.76405	0.528000	0.53228	GAG		0.562	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		28	66	0	0	0	1	0	28	66				
BSN	8927	broad.mit.edu	37	3	49695507	49695507	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr3:49695507C>G	ENST00000296452.4	+	5	8632	c.8518C>G	c.(8518-8520)Cct>Gct	p.P2840A		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2840					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCAGACGCTGCCTCGCCCCAT	0.612																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(8518-8520)Cct>Gct		bassoon presynaptic cytomatrix protein							51.0	56.0	54.0					3																	49695507		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49695507C>G	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.8518C>G	3.37:g.49695507C>G	ENSP00000296452:p.Pro2840Ala						p.P2840A	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	8632	+			2840					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.8518C>G	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031646	0.35797	.	.	ENSG00000164061	ENST00000296452	T	0.62232	0.04	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.79793	0.4507	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81057	-0.1105	10	0.72032	D	0.01	-11.5927	19.4665	0.94945	0.0:1.0:0.0:0.0	.	2840	Q9UPA5	BSN_HUMAN	A	2840	ENSP00000296452:P2840A	ENSP00000296452:P2840A	P	+	1	0	BSN	49670511	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.813000	0.86123	2.612000	0.88384	0.561000	0.74099	CCT		0.612	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		5	80	0	0	0	1	0	5	80				
PAK3	5063	broad.mit.edu	37	X	110406177	110406177	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chrX:110406177C>G	ENST00000372010.1	+	10	990	c.548C>G	c.(547-549)cCt>cGt	p.P183R	PAK3_ENST00000417227.1_Missense_Mutation_p.P189R|PAK3_ENST00000518291.1_Missense_Mutation_p.P204R|PAK3_ENST00000446737.1_Missense_Mutation_p.P168R|PAK3_ENST00000372007.5_Missense_Mutation_p.P168R|PAK3_ENST00000262836.4_Missense_Mutation_p.P183R|PAK3_ENST00000360648.4_Missense_Mutation_p.P204R|PAK3_ENST00000519681.1_Missense_Mutation_p.P189R|PAK3_ENST00000425146.1_Missense_Mutation_p.P168R			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	183	Linker.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CCATTGGCCCCTCCTGTGTCt	0.388										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(565-567)cCt>cGt		p21 protein (Cdc42/Rac)-activated kinase 3							115.0	109.0	111.0					X																	110406177		2203	4299	6502	SO:0001583	missense	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110406177C>G	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.548C>G	X.37:g.110406177C>G	ENSP00000361080:p.Pro183Arg	TSP Lung(19;0.15)				PAK3_ENST00000372007.4_Missense_Mutation_p.P168R|PAK3_ENST00000446737.1_Missense_Mutation_p.P168R|PAK3_ENST00000425146.1_Missense_Mutation_p.P168R|PAK3_ENST00000262836.4_Missense_Mutation_p.P183R|PAK3_ENST00000372010.1_Missense_Mutation_p.P183R|PAK3_ENST00000417227.1_Missense_Mutation_p.P189R|PAK3_ENST00000360648.4_Missense_Mutation_p.P204R|PAK3_ENST00000518291.1_Missense_Mutation_p.P204R	p.P189R			O75914	PAK3_HUMAN			10	1008	+			183			Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	c.566C>G	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791201	0.50102	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.73681	-0.75;-0.75;-0.75;-0.77;-0.75;-0.72;-0.72;-0.77;-0.75	5.95	5.04	0.67666	.	0.057925	0.64402	D	0.000001	T	0.72252	0.3437	M	0.65498	2.005	0.58432	D	0.999993	B;P;B;B	0.40909	0.12;0.732;0.217;0.074	B;B;B;B	0.37451	0.118;0.25;0.08;0.091	T	0.76149	-0.3065	10	0.51188	T	0.08	.	15.2332	0.73407	0.0:0.8629:0.1371:0.0	.	189;204;183;168	O75914-4;O75914-3;O75914;O75914-2	.;.;PAK3_HUMAN;.	R	168;168;183;189;168;204;204;189;183	ENSP00000410853:P168R;ENSP00000401982:P168R;ENSP00000361080:P183R;ENSP00000429113:P189R;ENSP00000361077:P168R;ENSP00000428921:P204R;ENSP00000353864:P204R;ENSP00000389172:P189R;ENSP00000262836:P183R	ENSP00000262836:P183R	P	+	2	0	PAK3	110292833	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.827000	0.62723	2.504000	0.84457	0.600000	0.82982	CCT		0.388	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		66	60	0	0	0	1	0	66	60				
ZNF713	349075	broad.mit.edu	37	7	56007563	56007563	+	Missense_Mutation	SNP	A	A	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr7:56007563A>G	ENST00000429591.2	+	4	1195	c.1157A>G	c.(1156-1158)aAa>aGa	p.K386R	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	386					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AAACCCTATAAATGTAATGAA	0.408																																						ENST00000429591.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(1156-1158)aAa>aGa		zinc finger protein 713							49.0	52.0	51.0					7																	56007563		2203	4300	6503	SO:0001583	missense	349075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:56007563A>G	AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"""Zinc fingers, C2H2-type"", ""-"""	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.1157A>G	7.37:g.56007563A>G	ENSP00000416662:p.Lys386Arg					MRPS17_ENST00000426595.1_Intron	p.K386R	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	1195	+	Breast(14;0.214)		386						Missense_Mutation	SNP	ENST00000429591.2	37	c.1157A>G	CCDS34639.1	.	.	.	.	.	.	.	.	.	.	A	11.98	1.799890	0.31869	.	.	ENSG00000178665	ENST00000429591	T	0.19938	2.11	3.26	3.26	0.37387	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42053	D	0.000778	T	0.17492	0.0420	N	0.12502	0.225	0.21386	N	0.999704	D	0.57899	0.981	P	0.54759	0.76	T	0.02829	-1.1105	10	0.56958	D	0.05	.	6.7051	0.23246	0.7568:0.2432:0.0:0.0	.	386	Q8N859	ZN713_HUMAN	R	386	ENSP00000416662:K386R	ENSP00000416662:K386R	K	+	2	0	ZNF713	55975057	0.000000	0.05858	0.994000	0.49952	0.985000	0.73830	0.083000	0.14871	1.731000	0.51592	0.383000	0.25322	AAA		0.408	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633		37	84	0	0	0	1	0	37	84				
IRX6	79190	broad.mit.edu	37	16	55361683	55361683	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr16:55361683C>A	ENST00000290552.7	+	4	1931	c.599C>A	c.(598-600)gCa>gAa	p.A200E	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	200					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						TTCGCCAACGCACGCCGGCGC	0.577																																						ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(598-600)gCa>gAa		iroquois homeobox 6							108.0	93.0	98.0					16																	55361683		2198	4300	6498	SO:0001583	missense	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55361683C>A	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.599C>A	16.37:g.55361683C>A	ENSP00000290552:p.Ala200Glu					IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	p.A200E	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			4	1931	+			200					B2RN06|Q7Z2K0	Missense_Mutation	SNP	ENST00000290552.7	37	c.599C>A	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	C	36	5.704205	0.96812	.	.	ENSG00000159387	ENST00000290552	D	0.94931	-3.56	5.82	5.82	0.92795	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97723	0.9253	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98030	1.0376	10	0.87932	D	0	-21.0531	19.7005	0.96050	0.0:1.0:0.0:0.0	.	200	P78412	IRX6_HUMAN	E	200	ENSP00000290552:A200E	ENSP00000290552:A200E	A	+	2	0	IRX6	53919184	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.731000	0.84895	2.757000	0.94681	0.655000	0.94253	GCA		0.577	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		38	64	1	0	1.04352e-10	1	1.14787e-10	38	64				
TP53	7157	broad.mit.edu	37	17	7578176	7578176	+	Splice_Site	SNP	C	C	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr17:7578176C>A	ENST00000269305.4	-	6	862		c.e6+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)	GCAAACCAGACCTCAGGCGGC	0.527		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"""		66	Unknown(56)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	p.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)	ovary(12)|upper_aerodigestive_tract(10)|lung(8)|biliary_tract(5)|endometrium(5)|large_intestine(4)|oesophagus(4)|bone(4)|stomach(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|cervix(1)|soft_tissue(1)|skin(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CS071266	TP53	S		c.e6+1	Other conserved DNA damage response genes	tumor protein p53							80.0	75.0	77.0					17																	7578176		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578176C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.672+1G>T	17.37:g.7578176C>A		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_Intron		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	805	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964220	0.74131	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	5.28	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.205	0.59790	0.1605:0.8394:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518901	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.775000	0.85489	1.321000	0.45227	0.563000	0.77884	.		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	19	49	1	0	6.94344e-10	1	7.58721e-10	19	49				
SLC35F5	80255	broad.mit.edu	37	2	114482973	114482973	+	Nonsense_Mutation	SNP	G	G	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:114482973G>C	ENST00000245680.2	-	12	1645	c.1232C>G	c.(1231-1233)tCa>tGa	p.S411*	SLC35F5_ENST00000470204.2_5'UTR	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	411					transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						CAGGAACTCTGAGAGTACTGT	0.313																																						ENST00000245680.2																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						c.(1231-1233)tCa>tGa		solute carrier family 35, member F5							101.0	96.0	98.0					2																	114482973		2203	4300	6503	SO:0001587	stop_gained	80255				transport	integral to membrane		g.chr2:114482973G>C	AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"""Solute carriers"""	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.1232C>G	2.37:g.114482973G>C	ENSP00000245680:p.Ser411*					SLC35F5_ENST00000470204.2_5'UTR	p.S411*	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN			12	1645	-			411					Q9H6P8|Q9H7D8	Nonsense_Mutation	SNP	ENST00000245680.2	37	c.1232C>G	CCDS2119.1	.	.	.	.	.	.	.	.	.	.	G	37	6.500323	0.97616	.	.	ENSG00000115084	ENST00000245680;ENST00000409106	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-11.8617	20.6593	0.99626	0.0:0.0:1.0:0.0	.	.	.	.	X	411;405	.	ENSP00000245680:S411X	S	-	2	0	SLC35F5	114199443	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.220000	0.95180	2.885000	0.99019	0.655000	0.94253	TCA		0.313	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		24	325	0	0	0	1	0	24	325				
IDE	3416	broad.mit.edu	37	10	94250312	94250312	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr10:94250312G>C	ENST00000265986.6	-	12	1527	c.1471C>G	c.(1471-1473)Cgc>Ggc	p.R491G	IDE_ENST00000371581.5_De_novo_Start_OutOfFrame|IDE_ENST00000496903.1_5'UTR	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	491					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	TCTTCTGTGCGATCAGTTTTT	0.358																																						ENST00000371581.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33								insulin-degrading enzyme	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						257.0	251.0	253.0					10																	94250312		2203	4300	6503	SO:0001583	missense	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94250312G>C	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.1471C>G	10.37:g.94250312G>C	ENSP00000265986:p.Arg491Gly					IDE_ENST00000265986.6_Missense_Mutation_p.R491G|IDE_ENST00000496903.1_5'UTR		NM_001165946.1	NP_001159418.1	P14735	IDE_HUMAN			0	130	-								B2R721|B7ZAU2|D3DR35|Q5T5N2	Translation_Start_Site	SNP	ENST00000265986.6	37		CCDS7421.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813937	0.32053	.	.	ENSG00000119912	ENST00000265986	T	0.43688	0.94	5.41	2.28	0.28536	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.439982	0.25132	N	0.032881	T	0.35008	0.0917	L	0.51422	1.61	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.11060	-1.0603	10	0.40728	T	0.16	0.1248	10.3484	0.43920	0.2292:0.0:0.7708:0.0	.	491	P14735	IDE_HUMAN	G	491	ENSP00000265986:R491G	ENSP00000265986:R491G	R	-	1	0	IDE	94240292	0.870000	0.30015	0.998000	0.56505	0.998000	0.95712	1.031000	0.30165	0.262000	0.21774	0.655000	0.94253	CGC		0.358	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		6	235	0	0	0	1	0	6	235				
IPP	3652	broad.mit.edu	37	1	46211901	46211901	+	Nonsense_Mutation	SNP	G	G	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:46211901G>T	ENST00000396478.3	-	2	285	c.183C>A	c.(181-183)taC>taA	p.Y61*		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	61	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					AAGCTGCAAAGTAAGGACTGC	0.418																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(181-183)taC>taA		intracisternal A particle-promoted polypeptide							78.0	74.0	76.0					1																	46211901		2203	4300	6503	SO:0001587	stop_gained	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46211901G>T	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.183C>A	1.37:g.46211901G>T	ENSP00000379739:p.Tyr61*						p.Y61*	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			2	285	-	Acute lymphoblastic leukemia(166;0.155)		61			BTB.		A2A6V4|D3DQ11|Q8N5C3	Nonsense_Mutation	SNP	ENST00000396478.3	37	c.183C>A	CCDS30702.1	.	.	.	.	.	.	.	.	.	.	G	33	5.212785	0.95069	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	.	.	.	5.57	2.61	0.31194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.6523	0.34042	0.3021:0.0:0.6979:0.0	.	.	.	.	X	61	.	ENSP00000353024:Y61X	Y	-	3	2	IPP	45984488	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.334000	0.43920	0.275000	0.22094	0.655000	0.94253	TAC		0.418	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		31	65	1	0	1.16021e-09	1	1.2512e-09	31	65				
TTN	7273	broad.mit.edu	37	2	179481676	179481676	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:179481676G>C	ENST00000591111.1	-	206	43241	c.43017C>G	c.(43015-43017)atC>atG	p.I14339M	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I15980M|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I7107M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I13412M|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000604956.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000359218.5_Missense_Mutation_p.I7040M|TTN_ENST00000460472.2_Missense_Mutation_p.I6915M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14339					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGGATCGTGATAGGATTTG	0.418																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(47938-47940)atC>atG		titin							142.0	136.0	138.0					2																	179481676		1868	4101	5969	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179481676G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43017C>G	2.37:g.179481676G>C	ENSP00000465570:p.Ile14339Met					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I6915M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000359218.5_Missense_Mutation_p.I7040M|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I13412M|TTN_ENST00000342175.6_Missense_Mutation_p.I7107M|TTN_ENST00000591111.1_Missense_Mutation_p.I14339M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	p.I15980M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		256	48164	-			14339			Fibronectin type-III 16.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.47940C>G		.	.	.	.	.	.	.	.	.	.	G	5.572	0.290312	0.10567	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.91	5.91	0.95273	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.57961	0.2089	M	0.77616	2.38	0.31136	N	0.70718	P;P;P;P	0.50369	0.934;0.934;0.934;0.934	P;P;P;P	0.53593	0.656;0.656;0.656;0.73	T	0.66476	-0.5914	9	0.87932	D	0	.	12.1439	0.54012	0.0:0.1289:0.7374:0.1337	.	6915;7040;7107;14339	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	13412;6915;7107;7040;6915	ENSP00000343764:I13412M;ENSP00000434586:I6915M;ENSP00000340554:I7107M;ENSP00000352154:I7040M	ENSP00000340554:I7107M	I	-	3	3	TTN	179189921	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	1.255000	0.32909	2.793000	0.96121	0.655000	0.94253	ATC		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		26	190	0	0	0	1	0	26	190				
BRCA2	675	broad.mit.edu	37	13	32930698	32930698	+	Silent	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr13:32930698G>A	ENST00000380152.3	+	15	7802	c.7569G>A	c.(7567-7569)ctG>ctA	p.L2523L	BRCA2_ENST00000544455.1_Silent_p.L2523L			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2523	Interaction with FANCD2.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GAATCTCTCTGAAAGCAGCAG	0.428			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(7567-7569)ctG>ctA	Homologous recombination	breast cancer 2, early onset							147.0	137.0	141.0					13																	32930698		2203	4300	6503	SO:0001819	synonymous_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32930698G>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.7569G>A	13.37:g.32930698G>A		TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Silent_p.L2523L	p.L2523L	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	15	7796	+		Lung SC(185;0.0262)	2523			Interaction with FANCD2.		O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	37	c.7569G>A	CCDS9344.1																																																																																				0.428	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		4	121	0	0	0	1	0	4	121				
RP11-156P1.3	0	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	byFrequency	TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr17:45128742T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TAATGATTTTTATTATACTTT	0.328													g|||	2160	0.43131	0.3593	0.4986	5008	,	,		16551	0.3482		0.4861	False		,,,				2504	0.5102					ENST00000575173.1																			0																																																			0							g.chr17:45128742T>G																													17.37:g.45128742T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.328	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	171	0	0	0	1	0	4	171				
MYBL2	4605	broad.mit.edu	37	20	42331451	42331451	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr20:42331451G>A	ENST00000217026.4	+	8	1400	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K	MYBL2_ENST00000396863.4_Missense_Mutation_p.E401K	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	425					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCCTGTCACTGAGAATAGCAC	0.612																																						ENST00000217026.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46						c.(1273-1275)Gag>Aag		v-myb avian myeloblastosis viral oncogene homolog-like 2							125.0	99.0	108.0					20																	42331451		2203	4300	6503	SO:0001583	missense	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42331451G>A		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1273G>A	20.37:g.42331451G>A	ENSP00000217026:p.Glu425Lys					MYBL2_ENST00000396863.4_Missense_Mutation_p.E401K	p.E425K	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		8	1400	+		Myeloproliferative disorder(115;0.00452)	425					B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	c.1273G>A	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649671	0.67358	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.15017	2.46;2.48	4.99	4.99	0.66335	.	0.180342	0.47093	D	0.000247	T	0.24005	0.0581	N	0.19112	0.55	0.45076	D	0.998099	D;D	0.76494	0.96;0.999	P;D	0.63793	0.737;0.918	T	0.04976	-1.0914	10	0.15952	T	0.53	-38.7282	17.4343	0.87547	0.0:0.0:1.0:0.0	.	401;425	F8W6N6;P10244	.;MYBB_HUMAN	K	401;425	ENSP00000380072:E401K;ENSP00000217026:E425K	ENSP00000217026:E425K	E	+	1	0	MYBL2	41764865	1.000000	0.71417	0.963000	0.40424	0.737000	0.42083	6.492000	0.73654	2.488000	0.83962	0.462000	0.41574	GAG		0.612	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		10	55	0	0	0	1	0	10	55				
FBXL5	26234	broad.mit.edu	37	4	15627093	15627093	+	Silent	SNP	C	C	A	rs143532809		TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr4:15627093C>A	ENST00000341285.3	-	9	1756	c.1632G>T	c.(1630-1632)gcG>gcT	p.A544A	FBXL5_ENST00000412094.2_Silent_p.A527A|FBXL5_ENST00000382358.4_Silent_p.A418A	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	544					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						GACCACAATACGCAAAGGCTG	0.428																																						ENST00000341285.3																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(1630-1632)gcG>gcT		F-box and leucine-rich repeat protein 5							70.0	57.0	62.0					4																	15627093		2203	4300	6503	SO:0001819	synonymous_variant	26234				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity	g.chr4:15627093C>A	AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"""F-boxes / Leucine-rich repeats"""	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.1632G>T	4.37:g.15627093C>A						FBXL5_ENST00000382358.4_Silent_p.A418A|FBXL5_ENST00000412094.2_Silent_p.A527A	p.A544A	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN			9	1756	-			544					A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Silent	SNP	ENST00000341285.3	37	c.1632G>T	CCDS3415.1	.	.	.	.	.	.	.	.	.	.	T	6.740	0.505322	0.12822	.	.	ENSG00000118564	ENST00000513163	.	.	.	5.72	-10.9	0.00192	.	.	.	.	.	T	0.30479	0.0766	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40440	-0.9563	4	.	.	.	-5.3948	0.918	0.01308	0.1884:0.2314:0.237:0.3432	.	.	.	.	L	465	.	.	V	-	1	0	FBXL5	15236191	0.000000	0.05858	0.076000	0.20297	0.925000	0.55904	-3.359000	0.00498	-2.784000	0.00359	-0.360000	0.07572	GTA		0.428	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2			20	29	1	0	8.10497e-08	1	8.62787e-08	20	29				
ADAMTS9	56999	broad.mit.edu	37	3	64600997	64600997	+	Splice_Site	SNP	C	C	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr3:64600997C>G	ENST00000498707.1	-	21	3531	c.3189G>C	c.(3187-3189)gaG>gaC	p.E1063D	ADAMTS9_ENST00000295903.4_Splice_Site_p.E1035D	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1063	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CCCATCTTACCTCTGACCAGT	0.458																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.e21+1		ADAM metallopeptidase with thrombospondin type 1 motif, 9							187.0	170.0	176.0					3																	64600997		2203	4300	6503	SO:0001630	splice_region_variant	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64600997C>G	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.3189+1G>C	3.37:g.64600997C>G						ADAMTS9_ENST00000295903.4_Splice_Site_p.E1035_splice	p.E1063_splice	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	21	3531	-		Lung NSC(201;0.00682)	1063			TSP type-1 5.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Splice_Site	SNP	ENST00000498707.1	37	c.3189_splice	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.89|15.89	2.965489|2.965489	0.53507|0.53507	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000295903;ENST00000498707|ENST00000481060	T;T|.	0.53206|.	0.63;0.63|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.64294|0.64294	0.2585|0.2585	M|M	0.62154|0.62154	1.92|1.92	0.80722|0.80722	D|D	1|1	B;P;B;B|.	0.39131|.	0.289;0.661;0.119;0.186|.	B;B;B;B|.	0.42798|.	0.33;0.398;0.052;0.208|.	T|T	0.62714|0.62714	-0.6796|-0.6796	10|5	0.59425|.	D|.	0.04|.	.|.	9.9942|9.9942	0.41889|0.41889	0.0:0.7893:0.1391:0.0717|0.0:0.7893:0.1391:0.0717	.|.	1035;1063;1063;1063|.	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4|.	.;.;.;ATS9_HUMAN|.	D|T	1035;1063|119	ENSP00000295903:E1035D;ENSP00000418735:E1063D|.	ENSP00000295903:E1035D|.	E|S	-|-	3|2	2|0	ADAMTS9|ADAMTS9	64576037|64576037	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.744000|0.744000	0.42396|0.42396	2.851000|2.851000	0.48302|0.48302	2.792000|2.792000	0.96026|0.96026	0.555000|0.555000	0.69702|0.69702	GAG|AGT		0.458	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1		Missense_Mutation	40	64	0	0	0	1	0	40	64				
ZNF800	168850	broad.mit.edu	37	7	127014013	127014013	+	Silent	SNP	T	T	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr7:127014013T>C	ENST00000393313.1	-	5	1968	c.1377A>G	c.(1375-1377)aaA>aaG	p.K459K	ZNF800_ENST00000265827.3_Silent_p.K459K|ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000393312.1_Silent_p.K459K			Q2TB10	ZN800_HUMAN	zinc finger protein 800	459					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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GACTAGTTGATTTAGGGCTTT	0.383																																						ENST00000393313.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						c.(1375-1377)aaA>aaG		zinc finger protein 800							79.0	79.0	79.0					7																	127014013		2203	4300	6503	SO:0001819	synonymous_variant	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127014013T>C	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1377A>G	7.37:g.127014013T>C						ZNF800_ENST00000265827.3_Silent_p.K459K|ZNF800_ENST00000393312.1_Silent_p.K459K	p.K459K			Q2TB10	ZN800_HUMAN			5	1968	-			459					Q9HBN0	Silent	SNP	ENST00000393313.1	37	c.1377A>G	CCDS5795.1																																																																																				0.383	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		32	121	0	0	0	1	0	32	121				
FAM86B3P	286042	broad.mit.edu	37	8	8095990	8095990	+	RNA	SNP	C	C	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr8:8095990C>G	ENST00000310542.3	+	0	0				ALG1L13P_ENST00000523017.1_RNA					family with sequence similarity 86, member B3, pseudogene																		CCAGGAGCCCCGAGACCTGCA	0.647																																						ENST00000523017.1																			0																																																			286042							g.chr8:8095990C>G			8p23.1	2013-06-10			ENSG00000173295	ENSG00000173295			44371	pseudogene	pseudogene							Standard	NR_024361		Approved		uc011kwt.2		OTTHUMG00000163669		8.37:g.8095990C>G														0	608	-									RNA	SNP	ENST00000310542.3	37																																																																																						0.647	FAM86B3P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000448496.1			3	4	0	0	0	1	0	3	4				
CACHD1	57685	broad.mit.edu	37	1	65157042	65157042	+	Missense_Mutation	SNP	A	A	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:65157042A>G	ENST00000371073.2	+	27	3623	c.3623A>G	c.(3622-3624)aAt>aGt	p.N1208S	CACHD1_ENST00000290039.5_Missense_Mutation_p.N1157S|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1208					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GACAGTGAAAATCCTCCATGC	0.502																																						ENST00000371073.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(3622-3624)aAt>aGt		cache domain containing 1							116.0	103.0	107.0					1																	65157042		2203	4300	6503	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65157042A>G	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3623A>G	1.37:g.65157042A>G	ENSP00000360113:p.Asn1208Ser					CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.N1157S	p.N1208S			Q5VU97	CAHD1_HUMAN			27	3623	+			1208					Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.3623A>G		.	.	.	.	.	.	.	.	.	.	A	15.82	2.946081	0.53079	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.22945	1.93;1.94	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.26304	0.0642	L	0.29908	0.895	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.04140	-1.0974	10	0.54805	T	0.06	-32.9528	15.1139	0.72384	1.0:0.0:0.0:0.0	.	1208	Q5VU97	CAHD1_HUMAN	S	1208;1157	ENSP00000360113:N1208S;ENSP00000290039:N1157S	ENSP00000290039:N1157S	N	+	2	0	CACHD1	64929630	1.000000	0.71417	0.931000	0.37212	0.925000	0.55904	8.798000	0.91888	2.034000	0.60081	0.459000	0.35465	AAT		0.502	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		45	90	0	0	0	1	0	45	90				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			5	70	0	0	0	1	0	5	70				
STK11IP	114790	broad.mit.edu	37	2	220472994	220472994	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:220472994C>T	ENST00000456909.1	+	14	1535	c.1445C>T	c.(1444-1446)tCa>tTa	p.S482L	STK11IP_ENST00000295641.10_Missense_Mutation_p.S493L			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	493					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCCAGGAGTCACCACAGAAA	0.632																																						ENST00000456909.1																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(1444-1446)tCa>tTa		serine/threonine kinase 11 interacting protein							14.0	19.0	18.0					2																	220472994		1973	4150	6123	SO:0001583	missense	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220472994C>T	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.1445C>T	2.37:g.220472994C>T	ENSP00000389383:p.Ser482Leu					STK11IP_ENST00000295641.10_Missense_Mutation_p.S493L	p.S482L			Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	14	1535	+		Renal(207;0.0183)	493					Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	37	c.1445C>T		.	.	.	.	.	.	.	.	.	.	C	16.56	3.156342	0.57259	.	.	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	T;T	0.05649	3.41;3.41	4.89	4.01	0.46588	.	0.869559	0.09996	N	0.729105	T	0.08758	0.0217	L	0.54323	1.7	0.09310	N	0.999999	B;B;B	0.20671	0.047;0.047;0.047	B;B;B	0.19946	0.018;0.018;0.027	T	0.21930	-1.0231	10	0.66056	D	0.02	-1.3879	8.1194	0.30963	0.1563:0.7633:0.0:0.0805	.	461;493;493	B4DUE4;Q8N1F8-2;Q8N1F8	.;.;S11IP_HUMAN	L	482;461;493	ENSP00000389383:S482L;ENSP00000295641:S493L	ENSP00000295641:S493L	S	+	2	0	STK11IP	220181238	0.007000	0.16637	0.003000	0.11579	0.202000	0.24057	1.159000	0.31749	1.298000	0.44778	-0.258000	0.10820	TCA		0.632	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		7	17	0	0	0	1	0	7	17				
ACIN1	22985	broad.mit.edu	37	14	23535193	23535193	+	Missense_Mutation	SNP	T	T	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr14:23535193T>C	ENST00000262710.1	-	10	2791	c.2464A>G	c.(2464-2466)Agg>Ggg	p.R822G	ACIN1_ENST00000605057.1_Missense_Mutation_p.R764G|ACIN1_ENST00000457657.1_Missense_Mutation_p.R782G|ACIN1_ENST00000557515.1_Missense_Mutation_p.R64G|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000338631.6_Missense_Mutation_p.R95G|ACIN1_ENST00000555053.1_Missense_Mutation_p.R822G|ACIN1_ENST00000397341.3_Missense_Mutation_p.R64G|ACIN1_ENST00000357481.2_Missense_Mutation_p.R64G	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	822					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GAGATCTTCCTCTTGAATGAT	0.438																																						ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(2464-2466)Agg>Ggg		apoptotic chromatin condensation inducer 1							127.0	118.0	121.0					14																	23535193		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23535193T>C	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.2464A>G	14.37:g.23535193T>C	ENSP00000262710:p.Arg822Gly					ACIN1_ENST00000605057.1_Missense_Mutation_p.R764G|ACIN1_ENST00000555053.1_Missense_Mutation_p.R822G|ACIN1_ENST00000457657.1_Missense_Mutation_p.R782G|ACIN1_ENST00000557515.1_Missense_Mutation_p.R64G|ACIN1_ENST00000338631.6_Missense_Mutation_p.R95G|ACIN1_ENST00000357481.2_Missense_Mutation_p.R64G|ACIN1_ENST00000397341.3_Missense_Mutation_p.R64G	p.R822G	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	10	2791	-	all_cancers(95;1.36e-05)		822					B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.2464A>G	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.977750	0.53720	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053;ENST00000555566	T;T;T;T;T;T;T	0.26223	3.36;3.36;3.36;1.75;1.77;3.36;3.46	5.27	5.27	0.74061	.	0.000000	0.45867	D	0.000326	T	0.39860	0.1094	L	0.48642	1.525	0.58432	D	0.999991	D;D;D;D;D	0.89917	1.0;0.995;0.995;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.989;0.989;0.996;0.996	T	0.09015	-1.0694	10	0.22109	T	0.4	-11.6595	10.8269	0.46638	0.0:0.0:0.1582:0.8418	.	822;822;782;95;64	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	G	64;95;64;822;782;64;822;64	ENSP00000451138:R64G;ENSP00000345541:R95G;ENSP00000350073:R64G;ENSP00000262710:R822G;ENSP00000405677:R782G;ENSP00000380502:R64G;ENSP00000451328:R822G	ENSP00000262710:R822G	R	-	1	2	ACIN1	22605033	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.447000	0.44917	2.219000	0.72066	0.533000	0.62120	AGG		0.438	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		44	51	0	0	0	1	0	44	51				
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	byFrequency	TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - Missense(2)	p.Q78R(2)	lung(1)|endometrium(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(232-234)cAg>cGg		major histocompatibility complex, class I, A							54.0	57.0	56.0					6																	29910693		2203	4299	6502	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910693A>G	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.233A>G	6.37:g.29910693A>G	ENSP00000379873:p.Gln78Arg	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R	p.Q78R			P30443	1A01_HUMAN			4	574	+			78			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.233A>G	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	9.798	1.179669	0.21787	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00784	5.7;5.7;5.7;5.7	3.72	-4.39	0.03611	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	1.398580	0.06189	N	0.681068	T	0.00815	0.0027	L	0.56280	1.765	0.09310	N	1	B;P;B;P;B	0.42483	0.0;0.781;0.0;0.781;0.0	B;D;B;D;B	0.71184	0.006;0.972;0.01;0.972;0.01	T	0.44952	-0.9294	10	0.87932	D	0	.	0.9552	0.01384	0.3504:0.1689:0.3159:0.1647	rs41559716	78;78;78;78;78	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	R	78	ENSP00000379873:Q78R;ENSP00000366002:Q78R;ENSP00000366005:Q78R;ENSP00000365998:Q78R	ENSP00000348012:Q78R	Q	+	2	0	HLA-A	30018672	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.990000	0.03732	-0.910000	0.03847	-0.450000	0.05554	CAG		0.657	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		3	26	0	0	0	1	0	3	26				
DENND2C	163259	broad.mit.edu	37	1	115161057	115161057	+	Missense_Mutation	SNP	T	T	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:115161057T>G	ENST00000393274.1	-	8	1899	c.1274A>C	c.(1273-1275)aAg>aCg	p.K425T	DENND2C_ENST00000393277.1_Missense_Mutation_p.K425T|DENND2C_ENST00000393276.3_Missense_Mutation_p.K368T|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	425					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTTACCTTCTTCTTCCCTCT	0.348																																						ENST00000393274.1																			0				NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37						c.(1273-1275)aAg>aCg		DENN/MADD domain containing 2C							133.0	119.0	124.0					1																	115161057		2202	4298	6500	SO:0001583	missense	163259							g.chr1:115161057T>G		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.1274A>C	1.37:g.115161057T>G	ENSP00000376955:p.Lys425Thr					DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.K368T|DENND2C_ENST00000393277.1_Missense_Mutation_p.K425T	p.K425T	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	1899	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	425					B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	c.1274A>C	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.285554	0.80803	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.22134	3.52;2.75;1.97	5.67	5.67	0.87782	.	0.221172	0.39341	N	0.001385	T	0.40570	0.1122	M	0.79805	2.47	0.50313	D	0.999869	D;D	0.89917	0.998;1.0	D;D	0.79784	0.953;0.993	T	0.44636	-0.9315	10	0.87932	D	0	.	14.4677	0.67494	0.0:0.0:0.0:1.0	.	425;368	Q68D51;Q68D51-3	DEN2C_HUMAN;.	T	368;425;425;425	ENSP00000376957:K368T;ENSP00000376955:K425T;ENSP00000376958:K425T	ENSP00000358553:K425T	K	-	2	0	DENND2C	114962580	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	4.252000	0.58785	2.163000	0.67991	0.482000	0.46254	AAG		0.348	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		31	63	0	0	0	1	0	31	63				
ZFYVE16	9765	broad.mit.edu	37	5	79773141	79773141	+	Missense_Mutation	SNP	C	C	G	rs371215335		TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr5:79773141C>G	ENST00000338008.5	+	18	4745	c.4565C>G	c.(4564-4566)tCt>tGt	p.S1522C	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.S1522C|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.S1522C	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1522					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		ACCTCCAACTCTAGTTTACCA	0.353																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			0				breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4564-4566)tCt>tGt		zinc finger, FYVE domain containing 16							104.0	102.0	102.0					5																	79773141		2203	4300	6503	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79773141C>G	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.4565C>G	5.37:g.79773141C>G	ENSP00000337159:p.Ser1522Cys					ZFYVE16_ENST00000510158.1_Missense_Mutation_p.S1522C|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.S1522C	p.S1522C	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	18	4745	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	1522					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.4565C>G	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614799	0.46631	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.41065	1.01;1.01;1.01	5.41	3.65	0.41850	.	0.141093	0.33980	N	0.004378	T	0.44726	0.1307	L	0.50333	1.59	0.32242	N	0.572525	P;P	0.51351	0.944;0.939	P;P	0.48873	0.593;0.541	T	0.58451	-0.7634	10	0.72032	D	0.01	-5.2562	11.6167	0.51094	0.0:0.8545:0.0:0.1455	.	332;1522	B3KXA7;Q7Z3T8	.;ZFY16_HUMAN	C	1522	ENSP00000337159:S1522C;ENSP00000423663:S1522C;ENSP00000426848:S1522C	ENSP00000337159:S1522C	S	+	2	0	ZFYVE16	79808897	0.846000	0.29590	0.708000	0.30435	0.947000	0.59692	2.627000	0.46469	0.658000	0.30925	-0.216000	0.12614	TCT		0.353	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		6	71	0	0	0	1	0	6	71				
SUCO	51430	broad.mit.edu	37	1	172526904	172526904	+	Silent	SNP	A	A	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:172526904A>G	ENST00000263688.3	+	6	921	c.702A>G	c.(700-702)gcA>gcG	p.A234A	SUCO_ENST00000608151.1_Silent_p.A393A|SUCO_ENST00000367723.4_Silent_p.A392A|SUCO_ENST00000610051.1_Silent_p.A197A	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	234					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											CAAAATCTGCATTGAATGCTT	0.308																																						ENST00000367723.3																			0											c.(1177-1179)gcA>gcG		SUN domain containing ossification factor							92.0	97.0	95.0					1																	172526904		2203	4299	6502	SO:0001819	synonymous_variant	51430							g.chr1:172526904A>G	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.702A>G	1.37:g.172526904A>G						SUCO_ENST00000263688.3_Silent_p.A234A	p.A393A	NM_016227.2	NP_057311.2					6	1303	+								B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Silent	SNP	ENST00000263688.3	37	c.1179A>G	CCDS1303.1																																																																																				0.308	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		12	61	0	0	0	1	0	12	61				
CNTN6	27255	broad.mit.edu	37	3	1369145	1369145	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr3:1369145G>T	ENST00000446702.2	+	10	1715	c.1088G>T	c.(1087-1089)aGa>aTa	p.R363I	CNTN6_ENST00000350110.2_Missense_Mutation_p.R363I|CNTN6_ENST00000539053.1_Missense_Mutation_p.R291I			Q9UQ52	CNTN6_HUMAN	contactin 6	363	Ig-like C2-type 4.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TATTAGGAGAGAATTCAAATA	0.318																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(1087-1089)aGa>aTa		contactin 6							78.0	77.0	77.0					3																	1369145		2203	4297	6500	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1369145G>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1088G>T	3.37:g.1369145G>T	ENSP00000407822:p.Arg363Ile					CNTN6_ENST00000539053.1_Missense_Mutation_p.R291I|CNTN6_ENST00000350110.2_Missense_Mutation_p.R363I	p.R363I			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	10	1715	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	363			Ig-like C2-type 4.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.1088G>T	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789694	0.90367	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	D;D;D	0.85013	-1.93;-1.93;-1.93	5.13	5.13	0.70059	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000006	D	0.93517	0.7931	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94558	0.7760	10	0.87932	D	0	.	17.138	0.86745	0.0:0.0:1.0:0.0	.	363	Q9UQ52	CNTN6_HUMAN	I	363;291;363	ENSP00000407822:R363I;ENSP00000442791:R291I;ENSP00000341882:R363I	ENSP00000341882:R363I	R	+	2	0	CNTN6	1344145	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.890000	0.92477	2.537000	0.85549	0.555000	0.69702	AGA		0.318	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		13	41	1	0	0.0135373	1	0.0137034	13	41				
PLEC	5339	broad.mit.edu	37	8	145001196	145001196	+	Silent	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr8:145001196G>A	ENST00000322810.4	-	29	4474	c.4305C>T	c.(4303-4305)tcC>tcT	p.S1435S	PLEC_ENST00000354958.2_Silent_p.S1276S|PLEC_ENST00000527096.1_Silent_p.S1321S|PLEC_ENST00000436759.2_Silent_p.S1325S|PLEC_ENST00000357649.2_Silent_p.S1302S|PLEC_ENST00000354589.3_Silent_p.S1298S|PLEC_ENST00000356346.3_Silent_p.S1284S|PLEC_ENST00000398774.2_Silent_p.S1266S|PLEC_ENST00000345136.3_Silent_p.S1298S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1435	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						TCTTGGCCGGGGAGGCCACCG	0.642																																						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.(4303-4305)tcC>tcT		plectin							62.0	68.0	66.0					8																	145001196		2087	4221	6308	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.chr8:145001196G>A	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.4305C>T	8.37:g.145001196G>A						PLEC_ENST00000345136.3_Silent_p.S1298S|PLEC_ENST00000398774.2_Silent_p.S1266S|PLEC_ENST00000527096.1_Silent_p.S1321S|PLEC_ENST00000436759.2_Silent_p.S1325S|PLEC_ENST00000356346.3_Silent_p.S1284S|PLEC_ENST00000354958.2_Silent_p.S1276S|PLEC_ENST00000354589.3_Silent_p.S1298S|PLEC_ENST00000357649.2_Silent_p.S1302S	p.S1435S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			29	4474	-			1435			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.4305C>T	CCDS43772.1																																																																																				0.642	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		28	46	0	0	0	1	0	28	46				
SHROOM4	57477	broad.mit.edu	37	X	50350953	50350953	+	Silent	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chrX:50350953G>A	ENST00000289292.7	-	6	3472	c.3189C>T	c.(3187-3189)atC>atT	p.I1063I	SHROOM4_ENST00000376020.2_Silent_p.I1063I|SHROOM4_ENST00000460112.3_Silent_p.I947I			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1063					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCGCCAAGCTGATGTGACTCT	0.572																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3187-3189)atC>atT		shroom family member 4							44.0	41.0	42.0					X																	50350953		2203	4300	6503	SO:0001819	synonymous_variant	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350953G>A	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3189C>T	X.37:g.50350953G>A						SHROOM4_ENST00000460112.3_Silent_p.I947I|SHROOM4_ENST00000289292.7_Silent_p.I1063I	p.I1063I	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3214	-	Ovarian(276;0.236)		1063					A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	c.3189C>T	CCDS35277.1																																																																																				0.572	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		9	34	0	0	0	1	0	9	34				
DENND2C	163259	broad.mit.edu	37	1	115161065	115161065	+	Missense_Mutation	SNP	T	T	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:115161065T>A	ENST00000393274.1	-	8	1891	c.1266A>T	c.(1264-1266)agA>agT	p.R422S	DENND2C_ENST00000393277.1_Missense_Mutation_p.R422S|DENND2C_ENST00000393276.3_Missense_Mutation_p.R365S|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	422					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTCTTCCCTCTTTTAGATT	0.348																																						ENST00000393274.1																			0				NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37						c.(1264-1266)agA>agT		DENN/MADD domain containing 2C							120.0	109.0	112.0					1																	115161065		2202	4298	6500	SO:0001583	missense	163259							g.chr1:115161065T>A		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.1266A>T	1.37:g.115161065T>A	ENSP00000376955:p.Arg422Ser					DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.R365S|DENND2C_ENST00000393277.1_Missense_Mutation_p.R422S	p.R422S	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	1891	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	422					B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	c.1266A>T	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.441521	0.83993	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.14516	3.72;3.25;2.5	5.67	5.67	0.87782	.	0.173034	0.43110	D	0.000612	T	0.26702	0.0653	M	0.79805	2.47	0.46823	D	0.999215	D;P	0.76494	0.999;0.939	D;P	0.67548	0.952;0.814	T	0.06862	-1.0803	10	0.87932	D	0	.	10.4253	0.44373	0.1546:0.0:0.0:0.8454	.	422;365	Q68D51;Q68D51-3	DEN2C_HUMAN;.	S	365;422;422;422	ENSP00000376957:R365S;ENSP00000376955:R422S;ENSP00000376958:R422S	ENSP00000358553:R422S	R	-	3	2	DENND2C	114962588	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.907000	0.28531	2.163000	0.67991	0.482000	0.46254	AGA		0.348	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		27	60	0	0	0	1	0	27	60				
TP53	7157	broad.mit.edu	37	17	7577124	7577124	+	Missense_Mutation	SNP	C	C	T	rs121912657		TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr17:7577124C>T	ENST00000269305.4	-	8	1003	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	TP53_ENST00000445888.2_Missense_Mutation_p.V272M|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.V272M|TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.V272M	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	272	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1737852}.|V -> M (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.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	CAAACACGCACCTCAAAGCTG	0.527		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"""		133	Substitution - Missense(108)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)	p.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(23)|ovary(16)|lung(14)|breast(14)|oesophagus(11)|upper_aerodigestive_tract(9)|haematopoietic_and_lymphoid_tissue(9)|central_nervous_system(7)|bone(5)|stomach(4)|pancreas(4)|liver(4)|kidney(3)|urinary_tract(3)|endometrium(2)|thyroid(1)|vulva(1)|soft_tissue(1)|testis(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	GRCh37	CM920676	TP53	M	rs121912657	c.(814-816)Gtg>Atg	Other conserved DNA damage response genes	tumor protein p53							62.0	54.0	57.0					17																	7577124		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577124C>T	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.814G>A	17.37:g.7577124C>T	ENSP00000269305:p.Val272Met	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_ENST00000359597.4_Missense_Mutation_p.V272M|TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000269305.4_Missense_Mutation_p.V272M|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.V272M	p.V272M	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	946	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	272		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|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	Missense_Mutation	SNP	ENST00000269305.4	37	c.814G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318455	0.81469	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99833	-7.03;-7.03;-7.03;-7.03;-7.03;-7.03	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057604	0.64402	D	0.000002	D	0.99843	0.9928	M	0.90309	3.105	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.96721	0.9532	10	0.87932	D	0	-27.8222	16.1198	0.81342	0.0:1.0:0.0:0.0	.	272;272;272;272	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	M	272;272;272;272;272;261;140	ENSP00000352610:V272M;ENSP00000269305:V272M;ENSP00000398846:V272M;ENSP00000391127:V272M;ENSP00000391478:V272M;ENSP00000425104:V140M	ENSP00000269305:V272M	V	-	1	0	TP53	7517849	1.000000	0.71417	0.986000	0.45419	0.849000	0.48306	5.871000	0.69628	2.667000	0.90743	0.462000	0.41574	GTG		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		34	17	0	0	0	1	0	34	17				
NALCN	259232	broad.mit.edu	37	13	102029346	102029346	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr13:102029346C>T	ENST00000251127.6	-	5	518	c.437G>A	c.(436-438)cGg>cAg	p.R146Q	NALCN_ENST00000376196.3_Missense_Mutation_p.R146Q|NALCN_ENST00000376200.5_Missense_Mutation_p.R146Q|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	146					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATCAGTGGCCGTGGAATCCG	0.398																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(436-438)cGg>cAg		sodium leak channel, non-selective							74.0	73.0	74.0					13																	102029346		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:102029346C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.437G>A	13.37:g.102029346C>T	ENSP00000251127:p.Arg146Gln					NALCN_ENST00000376200.5_Missense_Mutation_p.R146Q|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.R146Q	p.R146Q	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			5	518	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		146					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.437G>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650370	0.87958	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.98617	-5.03;-5.03;-5.03	4.92	4.92	0.64577	Ion transport (1);	0.070386	0.64402	D	0.000020	D	0.99375	0.9780	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98660	1.0683	10	0.87932	D	0	.	18.1641	0.89719	0.0:1.0:0.0:0.0	.	146;146	F2Z323;Q8IZF0	.;NALCN_HUMAN	Q	146	ENSP00000251127:R146Q;ENSP00000365367:R146Q;ENSP00000365373:R146Q	ENSP00000251127:R146Q	R	-	2	0	NALCN	100827347	1.000000	0.71417	0.998000	0.56505	0.585000	0.36419	7.487000	0.81328	2.283000	0.76528	0.650000	0.86243	CGG		0.398	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		6	95	0	0	0	1	0	6	95				
SI	6476	broad.mit.edu	37	3	164714392	164714392	+	Silent	SNP	G	G	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr3:164714392G>C	ENST00000264382.3	-	40	4685	c.4623C>G	c.(4621-4623)ctC>ctG	p.L1541L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1541	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AGCGGGTACAGAGATGATATT	0.303										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(4621-4623)ctC>ctG		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						78.0	78.0	78.0					3																	164714392		2202	4296	6498	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164714392G>C	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4623C>G	3.37:g.164714392G>C		HNSCC(35;0.089)					p.L1541L	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			40	4685	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1541			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.4623C>G	CCDS3196.1																																																																																				0.303	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		19	300	0	0	0	1	0	19	300				
CXorf40B	541578	broad.mit.edu	37	X	149100951	149100951	+	Silent	SNP	G	G	C	rs376089307		TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chrX:149100951G>C	ENST00000370406.3	-	5	1116	c.288C>G	c.(286-288)ccC>ccG	p.P96P	CXorf40B_ENST00000370404.1_Silent_p.P96P|XX-FW81066F1.2_ENST00000457775.1_RNA|CXorf40B_ENST00000462691.1_Silent_p.P96P|CXorf40B_ENST00000355203.2_Silent_p.P96P			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	96										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					TTAAGTCTTCGGGGCATTGCA	0.483																																						ENST00000370406.3																			0				endometrium(1)|lung(4)	5						c.(286-288)ccC>ccG		chromosome X open reading frame 40B							80.0	74.0	76.0					X																	149100951		2201	4296	6497	SO:0001819	synonymous_variant	541578							g.chrX:149100951G>C	BC009523	CCDS35426.1	Xq28	2012-11-28			ENSG00000197021	ENSG00000197021			17402	protein-coding gene	gene with protein product							Standard	XM_005274698		Approved		uc004fdy.3	Q96DE9	OTTHUMG00000034327	ENST00000370406.3:c.288C>G	X.37:g.149100951G>C						CXorf40B_ENST00000370404.1_Silent_p.P96P|CXorf40B_ENST00000462691.1_Silent_p.P96P|CXorf40B_ENST00000355203.2_Silent_p.P96P	p.P96P			Q96DE9	CX04B_HUMAN			5	1116	-	Acute lymphoblastic leukemia(192;6.56e-05)		96						Silent	SNP	ENST00000370406.3	37	c.288C>G	CCDS35426.1																																																																																				0.483	CXorf40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082896.2	NP_001013867		43	32	0	0	0	1	0	43	32				
ZNF790	388536	broad.mit.edu	37	19	37309554	37309554	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr19:37309554G>C	ENST00000356725.4	-	5	1812	c.1692C>G	c.(1690-1692)tgC>tgG	p.C564W	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	564					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)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TACTTTTCTTGCATCCATAAG	0.363																																						ENST00000356725.4																			0				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32						c.(1690-1692)tgC>tgG		zinc finger protein 790							100.0	101.0	100.0					19																	37309554		2203	4300	6503	SO:0001583	missense	388536				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37309554G>C	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1692C>G	19.37:g.37309554G>C	ENSP00000349161:p.Cys564Trp					CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	p.C564W	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	1812	-	Esophageal squamous(110;0.183)		564						Missense_Mutation	SNP	ENST00000356725.4	37	c.1692C>G	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	G	1.481	-0.557279	0.03967	.	.	ENSG00000197863	ENST00000356725	T	0.72725	-0.68	3.18	1.01	0.19927	.	.	.	.	.	D	0.83298	0.5224	H	0.95004	3.61	0.26917	N	0.966762	D	0.65815	0.995	P	0.58013	0.831	T	0.73248	-0.4043	9	0.87932	D	0	.	6.5008	0.22168	0.6324:0.0:0.3676:0.0	.	564	Q6PG37	ZN790_HUMAN	W	564	ENSP00000349161:C564W	ENSP00000349161:C564W	C	-	3	2	ZNF790	42001394	0.002000	0.14202	0.463000	0.27130	0.285000	0.27093	0.041000	0.13927	0.038000	0.15604	-0.469000	0.05056	TGC		0.363	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		17	255	0	0	0	1	0	17	255				
NBPF1	55672	broad.mit.edu	37	1	16895631	16895631	+	Missense_Mutation	SNP	A	A	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:16895631A>G	ENST00000430580.2	-	23	3438	c.2551T>C	c.(2551-2553)Tct>Cct	p.S851P	NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000287968.8_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	851	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CCGCTGTAAGACTTGTACGAG	0.488																																						ENST00000430580.2																			0											c.(2551-2553)Tct>Cct		neuroblastoma breakpoint family, member 1							225.0	240.0	235.0					1																	16895631		2198	4299	6497	SO:0001583	missense	55672					cytoplasm		g.chr1:16895631A>G	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2551T>C	1.37:g.16895631A>G	ENSP00000474456:p.Ser851Pro					NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000287968.8_3'UTR	p.S851P	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	23	3438	-			851			NBPF 4.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2551T>C																																																																																					0.488	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		115	1139	0	0	0	1	0	115	1139				
RGL1	23179	broad.mit.edu	37	1	183853897	183853897	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:183853897G>A	ENST00000360851.3	+	7	954	c.776G>A	c.(775-777)tGc>tAc	p.C259Y	RGL1_ENST00000539189.1_Missense_Mutation_p.C259Y|RGL1_ENST00000304685.4_Missense_Mutation_p.C294Y|RGL1_ENST00000536277.1_Missense_Mutation_p.C257Y			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	259	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TGCCTGGGCTGCATTTGGTCT	0.453																																						ENST00000304685.3																			0				breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.(880-882)tGc>tAc		ral guanine nucleotide dissociation stimulator-like 1							131.0	112.0	119.0					1																	183853897		2203	4300	6503	SO:0001583	missense	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183853897G>A	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.776G>A	1.37:g.183853897G>A	ENSP00000354097:p.Cys259Tyr					RGL1_ENST00000539189.1_Missense_Mutation_p.C259Y|RGL1_ENST00000367531.1_Missense_Mutation_p.C294Y|RGL1_ENST00000360851.3_Missense_Mutation_p.C259Y|RGL1_ENST00000536277.1_Missense_Mutation_p.C257Y	p.C294Y	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN			8	1342	+			259			Ras-GEF.		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37	c.881G>A		.	.	.	.	.	.	.	.	.	.	G	18.51	3.639613	0.67244	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000543395;ENST00000360851;ENST00000539189	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	5.26	5.26	0.73747	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.057415	0.64402	D	0.000001	T	0.47801	0.1465	L	0.49256	1.55	0.52099	D	0.999945	D;D;B;D;D	0.61697	0.965;0.99;0.317;0.971;0.99	P;P;B;P;P	0.62298	0.748;0.9;0.205;0.837;0.837	T	0.44742	-0.9308	10	0.66056	D	0.02	.	15.9562	0.79889	0.0:0.1346:0.8653:0.0	.	259;257;64;259;294	F5H6U6;B7Z2W5;F5H3C3;Q9NZL6;Q5SXQ6	.;.;.;RGL1_HUMAN;.	Y	294;294;257;64;259;259	ENSP00000303192:C294Y;ENSP00000356501:C294Y;ENSP00000438662:C257Y;ENSP00000354097:C259Y;ENSP00000437355:C259Y	ENSP00000303192:C294Y	C	+	2	0	RGL1	182120520	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.472000	0.66768	2.467000	0.83353	0.650000	0.86243	TGC		0.453	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		26	57	0	0	0	1	0	26	57				
RFPL1	5988	broad.mit.edu	37	22	29837559	29837559	+	Silent	SNP	C	C	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr22:29837559C>G	ENST00000354373.2	+	2	611	c.402C>G	c.(400-402)gcC>gcG	p.A134A	RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	134	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CCGACACAGCCAACAACTTCC	0.488																																						ENST00000354373.2																			0				endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						c.(400-402)gcC>gcG		ret finger protein-like 1							115.0	101.0	106.0					22																	29837559		2203	4298	6501	SO:0001819	synonymous_variant	5988						zinc ion binding	g.chr22:29837559C>G	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.402C>G	22.37:g.29837559C>G						RFPL1S_ENST00000461286.2_RNA|RFPL1S_ENST00000539579.1_RNA	p.A134A	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN			2	611	+			134			B30.2/SPRY.		Q6IC06|Q9UJ97	Silent	SNP	ENST00000354373.2	37	c.402C>G	CCDS13857.2																																																																																				0.488	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		15	188	0	0	0	1	0	15	188				
CCDC170	80129	broad.mit.edu	37	6	151936670	151936670	+	Silent	SNP	C	C	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr6:151936670C>A	ENST00000239374.7	+	10	1902	c.1803C>A	c.(1801-1803)ctC>ctA	p.L601L	RNU6-813P_ENST00000384691.1_RNA|CCDC170_ENST00000367290.5_Silent_p.L608L	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	601																	AGAAAAAGCTCATGTCTGTCA	0.393																																						ENST00000367290.5																			0											c.(1822-1824)ctC>ctA		coiled-coil domain containing 170							148.0	143.0	145.0					6																	151936670		1861	4102	5963	SO:0001819	synonymous_variant	80129							g.chr6:151936670C>A	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1803C>A	6.37:g.151936670C>A						CCDC170_ENST00000239374.7_Silent_p.L601L	p.L608L			Q8IYT3	CF097_HUMAN			10	1913	+			601					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Silent	SNP	ENST00000239374.7	37	c.1824C>A	CCDS43515.1																																																																																				0.393	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		33	171	1	0	2.42023e-17	1	2.75406e-17	33	171				
HTR5A	3361	broad.mit.edu	37	7	154863064	154863064	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr7:154863064G>A	ENST00000287907.2	+	1	1031	c.455G>A	c.(454-456)cGc>cAc	p.R152H	HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000395731.2_5'UTR|HTR5A-AS1_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	152					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	TACACGCTCCGCACCCGCAAG	0.627																																						ENST00000287907.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(454-456)cGc>cAc		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							98.0	71.0	80.0					7																	154863064		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154863064G>A		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.455G>A	7.37:g.154863064G>A	ENSP00000287907:p.Arg152His					AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_5'UTR	p.R152H	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	1031	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	152					Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.455G>A	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454921	0.84209	.	.	ENSG00000157219	ENST00000287907	T	0.73152	-0.72	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.124687	0.56097	D	0.000034	T	0.77751	0.4177	M	0.64567	1.98	0.42019	D	0.990974	D	0.62365	0.991	P	0.60012	0.867	T	0.77752	-0.2470	10	0.44086	T	0.13	.	11.4308	0.50038	0.0817:0.0:0.9183:0.0	.	152	P47898	5HT5A_HUMAN	H	152	ENSP00000287907:R152H	ENSP00000287907:R152H	R	+	2	0	HTR5A	154493997	1.000000	0.71417	0.770000	0.31555	0.930000	0.56654	4.768000	0.62293	2.465000	0.83290	0.655000	0.94253	CGC		0.627	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		18	34	0	0	0	1	0	18	34				
SNRNP40	9410	broad.mit.edu	37	1	31734445	31734445	+	Missense_Mutation	SNP	T	T	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:31734445T>A	ENST00000263694.4	-	9	973	c.955A>T	c.(955-957)Ata>Tta	p.I319L	SNRNP40_ENST00000446633.2_Missense_Mutation_p.I319L|SNRNP40_ENST00000373720.3_Missense_Mutation_p.I89L|SNRNP40_ENST00000489853.1_5'UTR	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	319					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						TTATACAATATTCTCCTGCTT	0.502																																						ENST00000263694.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						c.(955-957)Ata>Tta		small nuclear ribonucleoprotein 40kDa (U5)							83.0	75.0	78.0					1																	31734445		2203	4300	6503	SO:0001583	missense	9410					catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding	g.chr1:31734445T>A	AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"""WD repeat domain containing"""	30857	protein-coding gene	gene with protein product		607797	"""WD repeat domain 57 (U5 snRNP specific)"""	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.955A>T	1.37:g.31734445T>A	ENSP00000263694:p.Ile319Leu					SNRNP40_ENST00000446633.2_Missense_Mutation_p.I319L|SNRNP40_ENST00000373720.3_Missense_Mutation_p.I89L|SNRNP40_ENST00000489853.1_5'UTR	p.I319L	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN			9	973	-			319					B4DQJ1|O75938|O95320	Missense_Mutation	SNP	ENST00000263694.4	37	c.955A>T	CCDS340.1	.	.	.	.	.	.	.	.	.	.	T	12.68	2.010845	0.35511	.	.	ENSG00000060688	ENST00000263694;ENST00000373720;ENST00000446633	T;T;T	0.79247	-1.25;1.8;-1.25	5.8	4.68	0.58851	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.130648	0.64402	D	0.000001	T	0.48205	0.1487	N	0.01048	-1.04	0.58432	D	0.999999	B;B	0.12013	0.005;0.0	B;B	0.29267	0.1;0.015	T	0.48758	-0.9007	10	0.05833	T	0.94	.	11.4193	0.49971	0.0:0.0702:0.0:0.9298	.	319;319	B4DQJ1;Q96DI7	.;SNR40_HUMAN	L	319;89;319	ENSP00000263694:I319L;ENSP00000362825:I89L;ENSP00000406841:I319L	ENSP00000263694:I319L	I	-	1	0	SNRNP40	31507032	1.000000	0.71417	0.975000	0.42487	0.989000	0.77384	6.128000	0.71650	1.037000	0.40024	0.528000	0.53228	ATA		0.502	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010657.1	NM_004814		17	30	0	0	0	1	0	17	30				
TTN	7273	broad.mit.edu	37	2	179480379	179480379	+	Nonsense_Mutation	SNP	G	G	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:179480379G>C	ENST00000591111.1	-	208	43750	c.43526C>G	c.(43525-43527)tCa>tGa	p.S14509*	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.S16150*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.S7277*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.S13582*|TTN-AS1_ENST00000592630.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.S7210*|TTN_ENST00000460472.2_Nonsense_Mutation_p.S7085*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14509	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCAGGAGTTGACATATTTAC	0.403																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(48448-48450)tCa>tGa		titin							223.0	213.0	216.0					2																	179480379		1912	4126	6038	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179480379G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43526C>G	2.37:g.179480379G>C	ENSP00000465570:p.Ser14509*					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.S7085*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.S7210*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.S13582*|TTN_ENST00000342175.6_Nonsense_Mutation_p.S7277*|TTN_ENST00000591111.1_Nonsense_Mutation_p.S14509*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	p.S16150*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		258	48673	-			14509			Fibronectin type-III 17.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.48449C>G		.	.	.	.	.	.	.	.	.	.	G	59	36.126813	0.99983	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9601	0.97247	0.0:0.0:1.0:0.0	.	.	.	.	X	13582;7085;7277;7210;7085	.	ENSP00000340554:S7277X	S	-	2	0	TTN	179188624	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.696000	0.98695	2.720000	0.93068	0.655000	0.94253	TCA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	266	0	0	0	1	0	15	266				
SDCCAG8	10806	broad.mit.edu	37	1	243434354	243434354	+	Missense_Mutation	SNP	A	A	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:243434354A>C	ENST00000366541.3	+	3	413	c.295A>C	c.(295-297)Atg>Ctg	p.M99L	SDCCAG8_ENST00000355875.4_Missense_Mutation_p.M99L|SDCCAG8_ENST00000343783.6_Intron|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.M99L	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	99					establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		AAGAAGAAAAATGTCCCCCTT	0.353																																						ENST00000366541.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(295-297)Atg>Ctg		serologically defined colon cancer antigen 8							116.0	107.0	110.0					1																	243434354		2203	4300	6503	SO:0001583	missense	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243434354A>C	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.295A>C	1.37:g.243434354A>C	ENSP00000355499:p.Met99Leu					SDCCAG8_ENST00000355875.4_Missense_Mutation_p.M99L|SDCCAG8_ENST00000343783.6_Intron|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.M99L	p.M99L	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	3	413	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	99					O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	ENST00000366541.3	37	c.295A>C	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	A	0.869	-0.732689	0.03135	.	.	ENSG00000054282	ENST00000355875;ENST00000391846;ENST00000366541	T;T	0.42131	0.98;1.03	5.52	-3.78	0.04333	.	0.906226	0.09898	N	0.741392	T	0.18299	0.0439	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.18650	-1.0330	10	0.27785	T	0.31	2.4626	0.7721	0.01026	0.3699:0.1173:0.153:0.3598	.	99	Q86SQ7	SDCG8_HUMAN	L	99	ENSP00000348137:M99L;ENSP00000355499:M99L	ENSP00000348137:M99L	M	+	1	0	SDCCAG8	241500977	0.003000	0.15002	0.001000	0.08648	0.661000	0.39034	0.389000	0.20751	-0.427000	0.07350	0.533000	0.62120	ATG		0.353	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		17	59	0	0	0	1	0	17	59				
IVD	3712	broad.mit.edu	37	15	40702833	40702833	+	Missense_Mutation	SNP	A	A	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr15:40702833A>G	ENST00000249760.2	+	4	636	c.293A>G	c.(292-294)tAt>tGt	p.Y98C	IVD_ENST00000479013.2_Missense_Mutation_p.Y71C|IVD_ENST00000490194.1_3'UTR|IVD_ENST00000487418.2_Missense_Mutation_p.Y101C	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	98					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	flavin adenine dinucleotide binding (GO:0050660)|isovaleryl-CoA dehydrogenase activity (GO:0008470)			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	Flavin adenine dinucleotide(DB03147)	ACAGTTCAGTATGGCGGCTCC	0.547																																					GBM(31;293 617 7486 32527 34655)	ENST00000249760.2																			0				kidney(1)|lung(5)|ovary(2)|prostate(1)	9						c.(292-294)tAt>tGt		isovaleryl-CoA dehydrogenase							72.0	69.0	70.0					15																	40702833		2203	4300	6503	SO:0001583	missense	3712				leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity	g.chr15:40702833A>G	AF038317	CCDS10057.1, CCDS10057.2, CCDS53930.1	15q14-q15	2010-05-11	2010-05-11		ENSG00000128928	ENSG00000128928	1.3.99.10		6186	protein-coding gene	gene with protein product		607036	"""isovaleryl Coenzyme A dehydrogenase"", ""isovaleryl CoA dehydrogenase"""			2063866	Standard	NM_002225		Approved	ACAD2	uc001zls.3	P26440	OTTHUMG00000129984	ENST00000249760.2:c.293A>G	15.37:g.40702833A>G	ENSP00000249760:p.Tyr98Cys					IVD_ENST00000487418.2_Missense_Mutation_p.Y101C|IVD_ENST00000490194.1_3'UTR|IVD_ENST00000479013.2_Missense_Mutation_p.Y71C	p.Y98C	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	4	636	+		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	98					B2RCV5|B3KVI7|J3KR54|Q53XZ9|Q96AF6	Missense_Mutation	SNP	ENST00000249760.2	37	c.293A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.59|16.59	3.164340|3.164340	0.57476|0.57476	.|.	.|.	ENSG00000128928|ENSG00000128928	ENST00000473112|ENST00000249760;ENST00000479013;ENST00000487418	.|D;D;D	.|0.99823	.|-6.95;-6.95;-6.95	5.07|5.07	5.07|5.07	0.68467|0.68467	.|Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	.|0.372161	.|0.31577	.|N	.|0.007402	D|D	0.99743|0.99743	0.9898|0.9898	M|M	0.92367|0.92367	3.3|3.3	0.54753|0.54753	D|D	0.999986|0.999986	.|P;B	.|0.37525	.|0.598;0.414	.|P;B	.|0.46629	.|0.522;0.199	D|D	0.96623|0.96623	0.9461|0.9461	5|10	.|0.87932	.|D	.|0	.|.	14.9919|14.9919	0.71396|0.71396	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|98;71	.|P26440;B3KVI7	.|IVD_HUMAN;.	V|C	18|98;71;101	.|ENSP00000249760:Y98C;ENSP00000417990:Y71C;ENSP00000418397:Y101C	.|ENSP00000249760:Y98C	M|Y	+|+	1|2	0|0	IVD|IVD	38490125|38490125	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.869000|4.869000	0.63028|0.63028	2.136000|2.136000	0.66102|0.66102	0.533000|0.533000	0.62120|0.62120	ATG|TAT		0.547	IVD-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				9	83	0	0	0	1	0	9	83				
KLHL36	79786	broad.mit.edu	37	16	84695244	84695244	+	Silent	SNP	C	C	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr16:84695244C>T	ENST00000564996.1	+	5	1497	c.1356C>T	c.(1354-1356)caC>caT	p.H452H	KLHL36_ENST00000258157.5_Silent_p.H389H	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	452					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CGGGGGGCCACGACTACCAAA	0.647																																						ENST00000564996.1																			0				endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1354-1356)caC>caT		kelch-like family member 36							84.0	78.0	80.0					16																	84695244		2199	4300	6499	SO:0001819	synonymous_variant	79786							g.chr16:84695244C>T	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.1356C>T	16.37:g.84695244C>T						KLHL36_ENST00000258157.5_Silent_p.H389H	p.H452H	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN			5	1497	+			452					Q8N5G6|Q9H9U6	Silent	SNP	ENST00000564996.1	37	c.1356C>T	CCDS10948.1																																																																																				0.647	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			9	158	0	0	0	1	0	9	158				
CLCN1	1180	broad.mit.edu	37	7	143016950	143016950	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr7:143016950C>T	ENST00000343257.2	+	2	370	c.283C>T	c.(283-285)Cac>Tac	p.H95Y		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	95					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GGATGAGGATCACTATTCTAA	0.463																																						ENST00000343257.2																			0				breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(283-285)Cac>Tac		chloride channel, voltage-sensitive 1							186.0	153.0	164.0					7																	143016950		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143016950C>T	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.283C>T	7.37:g.143016950C>T	ENSP00000339867:p.His95Tyr						p.H95Y	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN			2	370	+	Melanoma(164;0.205)		95					A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.283C>T	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	.	15.56	2.869177	0.51588	.	.	ENSG00000188037	ENST00000343257	D	0.84873	-1.91	5.45	5.45	0.79879	Chloride channel, core (1);	0.239764	0.36555	N	0.002539	T	0.81293	0.4792	L	0.60455	1.87	0.28365	N	0.920287	P	0.43607	0.812	B	0.33620	0.167	T	0.80339	-0.1424	10	0.54805	T	0.06	.	16.0868	0.81060	0.0:1.0:0.0:0.0	.	95	P35523	CLCN1_HUMAN	Y	95	ENSP00000339867:H95Y	ENSP00000339867:H95Y	H	+	1	0	CLCN1	142727072	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	3.202000	0.51067	2.588000	0.87417	0.650000	0.86243	CAC		0.463	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		46	117	0	0	0	1	0	46	117				
ZNF441	126068	broad.mit.edu	37	19	11891446	11891446	+	Silent	SNP	A	A	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr19:11891446A>C	ENST00000357901.4	+	4	909	c.807A>C	c.(805-807)ctA>ctC	p.L269L	ZNF441_ENST00000454339.2_Silent_p.L202L	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	269					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACACTCAACTATATGAAAGGA	0.388																																						ENST00000357901.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(805-807)ctA>ctC		zinc finger protein 441							73.0	73.0	73.0					19																	11891446		2203	4300	6503	SO:0001819	synonymous_variant	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11891446A>C	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.807A>C	19.37:g.11891446A>C						ZNF441_ENST00000454339.2_Silent_p.L202L	p.L269L	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN			4	909	+			269						Silent	SNP	ENST00000357901.4	37	c.807A>C	CCDS12266.2																																																																																				0.388	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		6	142	0	0	0	1	0	6	142				
ZNF534	147658	broad.mit.edu	37	19	52942411	52942411	+	Silent	SNP	G	G	A	rs113700997	byFrequency	TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr19:52942411G>A	ENST00000332323.6	+	4	1798	c.1737G>A	c.(1735-1737)gcG>gcA	p.A579A	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Silent_p.A566A	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	579					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A579A(4)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CACACCTTGCGCGACATAGGA	0.443																																						ENST00000332323.6																			4	Substitution - coding silent(4)	p.A579A(4)	kidney(4)	central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						c.(1735-1737)gcG>gcA		zinc finger protein 534							63.0	62.0	62.0					19																	52942411		692	1591	2283	SO:0001819	synonymous_variant	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52942411G>A	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1737G>A	19.37:g.52942411G>A						ZNF534_ENST00000433050.1_Silent_p.A566A|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron	p.A579A	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN			4	1798	+			579					Q76KX9	Silent	SNP	ENST00000332323.6	37	c.1737G>A	CCDS46165.1																																																																																				0.443	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		4	21	0	0	0	1	0	4	21				
UBAC2	337867	broad.mit.edu	37	13	100037518	100037518	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr13:100037518G>A	ENST00000403766.3	+	9	1099	c.964G>A	c.(964-966)Gat>Aat	p.D322N	UBAC2_ENST00000376440.2_Missense_Mutation_p.D287N|UBAC2_ENST00000460562.1_3'UTR	NM_001144072.1	NP_001137544.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	322	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				protein localization to endoplasmic reticulum (GO:0070972)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTCCAGAGGTGATGCTTTGGA	0.572																																						ENST00000376440.2																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10						c.(859-861)Gat>Aat		UBA domain containing 2							78.0	73.0	75.0					13																	100037518		2203	4300	6503	SO:0001583	missense	337867					integral to membrane		g.chr13:100037518G>A	AK055110	CCDS9490.1, CCDS45064.1	13q32.3	2012-02-01	2007-04-20	2007-04-20	ENSG00000134882	ENSG00000134882			20486	protein-coding gene	gene with protein product			"""phosphoglycerate dehydrogenase like 1"""	PHGDHL1			Standard	NM_177967		Approved	FLJ30548, RP11-178C10.1	uc001voa.4	Q8NBM4	OTTHUMG00000017267	ENST00000403766.3:c.964G>A	13.37:g.100037518G>A	ENSP00000383911:p.Asp322Asn					UBAC2_ENST00000460562.1_3'UTR|UBAC2_ENST00000403766.3_Missense_Mutation_p.D322N	p.D287N	NM_177967.3	NP_808882.1	Q8NBM4	UBAC2_HUMAN			7	1362	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		322					B3KNV7|Q0VAB5|Q5W0W6|Q5W0W9|Q6GQR2|Q6P4B0|Q8N2E8|Q96NW2	Missense_Mutation	SNP	ENST00000403766.3	37	c.859G>A	CCDS45064.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869182	0.91587	.	.	ENSG00000134882	ENST00000403766;ENST00000355700;ENST00000376440	T;T;T	0.24151	1.87;1.87;1.87	5.36	5.36	0.76844	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.45856	0.1363	L	0.52126	1.63	0.80722	D	1	D;D;D;P	0.89917	0.957;1.0;0.981;0.929	P;D;P;P	0.91635	0.705;0.999;0.796;0.627	T	0.19160	-1.0314	9	.	.	.	-18.0423	16.5927	0.84770	0.0:0.0:1.0:0.0	.	252;287;322;322	B7Z6T7;Q8NBM4-2;A8K2S7;Q8NBM4	.;.;.;UBAC2_HUMAN	N	322;188;287	ENSP00000383911:D322N;ENSP00000347928:D188N;ENSP00000365623:D287N	.	D	+	1	0	UBAC2	98835519	1.000000	0.71417	0.958000	0.39756	0.988000	0.76386	8.723000	0.91458	2.492000	0.84095	0.467000	0.42956	GAT		0.572	UBAC2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045588.1	NM_177967		9	81	0	0	0	1	0	9	81				
ALCAM	214	broad.mit.edu	37	3	105269038	105269038	+	Missense_Mutation	SNP	T	T	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr3:105269038T>C	ENST00000306107.5	+	12	1942	c.1442T>C	c.(1441-1443)gTt>gCt	p.V481A	ALCAM_ENST00000389927.4_Missense_Mutation_p.V203A|ALCAM_ENST00000486979.2_Missense_Mutation_p.V430A|ALCAM_ENST00000472644.2_Missense_Mutation_p.V481A	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	481	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GAAGAGAATGTTACATTAACT	0.343																																						ENST00000306107.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(1441-1443)gTt>gCt		activated leukocyte cell adhesion molecule							92.0	111.0	105.0					3																	105269038		2202	4297	6499	SO:0001583	missense	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105269038T>C	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.1442T>C	3.37:g.105269038T>C	ENSP00000305988:p.Val481Ala					ALCAM_ENST00000472644.2_Missense_Mutation_p.V481A|ALCAM_ENST00000389927.4_Missense_Mutation_p.V203A|ALCAM_ENST00000486979.2_Missense_Mutation_p.V430A	p.V481A	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN			12	1942	+			481			Ig-like C2-type 3.		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	c.1442T>C	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	T	19.40	3.819886	0.71028	.	.	ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979;ENST00000389927	T;T;T;T	0.72835	4.11;4.11;4.11;-0.69	5.92	5.92	0.95590	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.226232	0.46758	N	0.000271	T	0.65913	0.2737	N	0.19112	0.55	0.38825	D	0.955719	P;D;D	0.55800	0.953;0.973;0.973	P;P;P	0.54499	0.699;0.754;0.754	T	0.68161	-0.5482	10	0.37606	T	0.19	-16.3624	10.6708	0.45757	0.0:0.0707:0.0:0.9293	.	203;481;481	Q6ZS95;B4DTU0;Q13740	.;.;CD166_HUMAN	A	481;481;430;203	ENSP00000305988:V481A;ENSP00000419236:V481A;ENSP00000418213:V430A;ENSP00000374577:V203A	ENSP00000305988:V481A	V	+	2	0	ALCAM	106751728	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.646000	0.54396	2.277000	0.76020	0.528000	0.53228	GTT		0.343	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		69	296	0	0	0	1	0	69	296				
TMPRSS15	5651	broad.mit.edu	37	21	19713857	19713857	+	Silent	SNP	A	A	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr21:19713857A>G	ENST00000284885.3	-	13	1470	c.1437T>C	c.(1435-1437)ttT>ttC	p.F479F		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	479	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TAAAAGCATTAAAAGCAACCT	0.373																																						ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(1435-1437)ttT>ttC		transmembrane protease, serine 15							110.0	105.0	107.0					21																	19713857		2203	4300	6503	SO:0001819	synonymous_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19713857A>G		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1437T>C	21.37:g.19713857A>G							p.F479F	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			13	1470	-			479			MAM.		Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.1437T>C	CCDS13571.1																																																																																				0.373	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		33	97	0	0	0	1	0	33	97				
APCDD1	147495	broad.mit.edu	37	18	10471914	10471914	+	Silent	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr18:10471914G>A	ENST00000355285.5	+	3	984	c.630G>A	c.(628-630)caG>caA	p.Q210Q	APCDD1_ENST00000578882.1_Intron	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		ATGAACTTCAGCTCATCCGGG	0.582																																						ENST00000355285.4																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(628-630)caG>caA		adenomatosis polyposis coli down-regulated 1							145.0	132.0	136.0					18																	10471914		2203	4300	6503	SO:0001819	synonymous_variant	147495				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding	g.chr18:10471914G>A	AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.630G>A	18.37:g.10471914G>A						APCDD1_ENST00000584596.1_3'UTR|APCDD1_ENST00000578882.1_Intron	p.Q210Q	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN		READ - Rectum adenocarcinoma(15;0.08)	3	984	+			210						Silent	SNP	ENST00000355285.5	37	c.630G>A	CCDS11849.1																																																																																				0.582	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000		52	192	0	0	0	1	0	52	192				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			6	89	1	0	0.00116845	1	0.00119008	6	89				
GSE1	23199	broad.mit.edu	37	16	85689393	85689393	+	Missense_Mutation	SNP	G	G	A	rs199942155		TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr16:85689393G>A	ENST00000253458.7	+	6	1035	c.859G>A	c.(859-861)Ggc>Agc	p.G287S	GSE1_ENST00000393243.1_Missense_Mutation_p.G214S|GSE1_ENST00000405402.2_Missense_Mutation_p.G183S	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	287																	CCCCACCCCCGGCTCCCTGCC	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		12152	0.001		0.0	False		,,,				2504	0.0					ENST00000253458.7																			0											c.(859-861)Ggc>Agc		Gse1 coiled-coil protein							46.0	45.0	46.0					16																	85689393		2196	4294	6490	SO:0001583	missense	23199							g.chr16:85689393G>A	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.859G>A	16.37:g.85689393G>A	ENSP00000253458:p.Gly287Ser					GSE1_ENST00000393243.1_Missense_Mutation_p.G214S|GSE1_ENST00000405402.2_Missense_Mutation_p.G183S	p.G287S	NM_014615.2	NP_055430.1					6	1035	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Missense_Mutation	SNP	ENST00000253458.7	37	c.859G>A	CCDS10952.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.06	3.753986	0.69648	.	.	ENSG00000131149	ENST00000405402;ENST00000411612;ENST00000253458;ENST00000393243	T;T;T	0.37235	1.23;1.21;1.25	4.79	2.79	0.32731	.	0.048974	0.85682	N	0.000000	T	0.32823	0.0842	M	0.66939	2.045	0.58432	D	0.999995	P;P	0.39443	0.674;0.545	B;B	0.32677	0.15;0.072	T	0.15435	-1.0437	10	0.56958	D	0.05	-18.5383	11.3026	0.49316	0.1525:0.0:0.8475:0.0	.	214;287	Q14687-3;Q14687	.;GSE1_HUMAN	S	183;183;287;214	ENSP00000384839:G183S;ENSP00000253458:G287S;ENSP00000376934:G214S	ENSP00000253458:G287S	G	+	1	0	KIAA0182	84246894	1.000000	0.71417	0.557000	0.28306	0.978000	0.69477	5.418000	0.66429	0.426000	0.26116	0.555000	0.69702	GGC		0.652	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		28	47	0	0	0	1	0	28	47				
UFSP2	55325	broad.mit.edu	37	4	186329493	186329493	+	Missense_Mutation	SNP	T	T	C	rs180730337		TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr4:186329493T>C	ENST00000264689.6	-	8	1044	c.928A>G	c.(928-930)Atc>Gtc	p.I310V		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	310						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		CAAGAGCAGATAGTCTGCAGA	0.413													T|||	1	0.000199681	0.0	0.0	5008	,	,		17500	0.0		0.001	False		,,,				2504	0.0					ENST00000264689.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(928-930)Atc>Gtc		UFM1-specific peptidase 2							147.0	131.0	136.0					4																	186329493		2203	4300	6503	SO:0001583	missense	55325					endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity	g.chr4:186329493T>C	AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"""chromosome 4 open reading frame 20"""	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.928A>G	4.37:g.186329493T>C	ENSP00000264689:p.Ile310Val						p.I310V	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)	8	1044	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	310					Q6IA77|Q96FS3	Missense_Mutation	SNP	ENST00000264689.6	37	c.928A>G	CCDS3842.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	T|T	13.89|13.89	2.370716|2.370716	0.42003|0.42003	.|.	.|.	ENSG00000109775|ENSG00000109775	ENST00000264689|ENST00000511485	T|.	0.41400|.	1.0|.	6.03|6.03	0.815|0.815	0.18763|0.18763	.|.	0.150151|.	0.64402|.	N|.	0.000013|.	T|T	0.53610|0.53610	0.1807|0.1807	L|L	0.52126|0.52126	1.63|1.63	0.58432|0.58432	D|D	0.999997|0.999997	B;B|.	0.22683|.	0.039;0.073|.	B;B|.	0.26693|.	0.072;0.06|.	T|T	0.42666|0.42666	-0.9438|-0.9438	10|5	0.23891|.	T|.	0.37|.	-9.0533|-9.0533	6.5375|6.5375	0.22363|0.22363	0.0:0.1907:0.1199:0.6894|0.0:0.1907:0.1199:0.6894	.|.	310;210|.	Q9NUQ7;B3KRI4|.	UFSP2_HUMAN;.|.	V|C	310|208	ENSP00000264689:I310V|.	ENSP00000264689:I310V|.	I|Y	-|-	1|2	0|0	UFSP2|UFSP2	186566487|186566487	0.958000|0.958000	0.32768|0.32768	0.258000|0.258000	0.24420|0.24420	0.875000|0.875000	0.50365|0.50365	1.631000|1.631000	0.37092|0.37092	0.142000|0.142000	0.18901|0.18901	-0.250000|-0.250000	0.11733|0.11733	ATC|TAT		0.413	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2	NM_018359		73	81	0	0	0	1	0	73	81				
BRDT	676	broad.mit.edu	37	1	92445286	92445286	+	Missense_Mutation	SNP	T	T	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:92445286T>G	ENST00000362005.3	+	9	1677	c.1259T>G	c.(1258-1260)gTt>gGt	p.V420G	BRDT_ENST00000394530.3_Missense_Mutation_p.V374G|BRDT_ENST00000370389.2_Missense_Mutation_p.V347G|BRDT_ENST00000402388.1_Missense_Mutation_p.V420G|BRDT_ENST00000399546.2_Missense_Mutation_p.V420G	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	420					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GATGAGCGAGTTAAGCGTCTT	0.383																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(1039-1041)gTt>gGt		bromodomain, testis-specific							101.0	100.0	100.0					1																	92445286		2203	4300	6503	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92445286T>G	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1259T>G	1.37:g.92445286T>G	ENSP00000354568:p.Val420Gly					BRDT_ENST00000402388.1_Missense_Mutation_p.V420G|BRDT_ENST00000399546.2_Missense_Mutation_p.V420G|BRDT_ENST00000394530.3_Missense_Mutation_p.V374G|BRDT_ENST00000362005.3_Missense_Mutation_p.V420G	p.V347G	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	8	1964	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	420			Bromo 2.		A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.1040T>G	CCDS735.1	.	.	.	.	.	.	.	.	.	.	T	14.44	2.536496	0.45176	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000426141;ENST00000402388	T;T;T;T;T;T	0.09723	3.27;3.25;3.27;3.3;2.95;3.27	5.01	3.86	0.44501	.	0.218875	0.31404	N	0.007709	T	0.03739	0.0106	L	0.50333	1.59	0.49483	D	0.999798	P;P;B;P	0.39282	0.666;0.666;0.208;0.483	B;B;B;B	0.35859	0.212;0.212;0.138;0.122	T	0.29792	-1.0000	10	0.87932	D	0	-7.8405	3.5276	0.07765	0.1577:0.2806:0.0:0.5618	.	374;374;424;420	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	G	420;347;420;420;374;420;420	ENSP00000354568:V420G;ENSP00000359416:V347G;ENSP00000387822:V420G;ENSP00000378038:V374G;ENSP00000404969:V420G;ENSP00000384051:V420G	ENSP00000354568:V420G	V	+	2	0	BRDT	92217874	0.558000	0.26554	0.801000	0.32222	0.856000	0.48823	1.128000	0.31369	0.844000	0.35094	0.533000	0.62120	GTT		0.383	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		12	99	0	0	0	1	0	12	99				
SLCO6A1	133482	broad.mit.edu	37	5	101794107	101794107	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr5:101794107C>A	ENST00000506729.1	-	6	1281	c.1110G>T	c.(1108-1110)aaG>aaT	p.K370N	SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.K370N|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.K308N|SLCO6A1_ENST00000513675.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	370						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CACATAAATCCTTGATATTAG	0.303																																						ENST00000506729.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1108-1110)aaG>aaT		solute carrier organic anion transporter family, member 6A1							122.0	123.0	123.0					5																	101794107		2202	4294	6496	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101794107C>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1110G>T	5.37:g.101794107C>A	ENSP00000421339:p.Lys370Asn					SLCO6A1_ENST00000379807.3_Missense_Mutation_p.K370N|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.K308N|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000513675.1_Intron	p.K370N			Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	6	1281	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	370					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.1110G>T	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.330779	0.41297	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019	T;T;T	0.43294	0.95;0.95;0.95	4.3	2.49	0.30216	Major facilitator superfamily domain, general substrate transporter (1);	0.645915	0.14959	N	0.288478	T	0.63450	0.2512	M	0.87269	2.87	0.09310	N	0.999996	D;D	0.89917	0.999;1.0	D;D	0.80764	0.982;0.994	T	0.51718	-0.8670	10	0.87932	D	0	.	5.8678	0.18786	0.0:0.6999:0.1959:0.1042	.	308;370	Q86UG4-2;Q86UG4	.;SO6A1_HUMAN	N	370;370;308	ENSP00000421339:K370N;ENSP00000369135:K370N;ENSP00000373671:K308N	ENSP00000369135:K370N	K	-	3	2	SLCO6A1	101822006	0.981000	0.34729	0.117000	0.21633	0.004000	0.04260	0.441000	0.21611	0.720000	0.32209	0.655000	0.94253	AAG		0.303	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		83	91	1	0	9.10895e-26	1	1.05843e-25	83	91				
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G	rs200656321		TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CGTTGGTGTTTTTGTAGACCA	0.617																																						ENST00000330048.5																			0																																																			386757							g.chr16:32890622T>G	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890622T>G								NR_003083.2						0	3176	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.617	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			3	40	0	0	0	1	0	3	40				
PCBP3	54039	broad.mit.edu	37	21	47360053	47360053	+	Missense_Mutation	SNP	A	A	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr21:47360053A>T	ENST00000400314.1	+	15	1357	c.1019A>T	c.(1018-1020)cAg>cTg	p.Q340L	PCBP3_ENST00000400304.1_Missense_Mutation_p.Q330L|PCBP3_ENST00000400310.1_Missense_Mutation_p.Q320L|PCBP3_ENST00000400308.1_Missense_Mutation_p.Q314L|PCBP3_ENST00000449640.1_Missense_Mutation_p.Q340L|PCBP3_ENST00000400309.1_Missense_Mutation_p.Q339L			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	340	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TCAGAGCGTCAGATCACCATC	0.547																																						ENST00000400314.1																			0				biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(1018-1020)cAg>cTg		poly(rC) binding protein 3							66.0	74.0	71.0					21																	47360053		2138	4253	6391	SO:0001583	missense	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47360053A>T	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.1019A>T	21.37:g.47360053A>T	ENSP00000383168:p.Gln340Leu					PCBP3_ENST00000400304.1_Missense_Mutation_p.Q330L|PCBP3_ENST00000400308.1_Missense_Mutation_p.Q314L|PCBP3_ENST00000400309.1_Missense_Mutation_p.Q339L|PCBP3_ENST00000400310.1_Missense_Mutation_p.Q320L|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000449640.1_Missense_Mutation_p.Q340L	p.Q340L			P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	15	1357	+	all_hematologic(128;0.24)		340			KH 3.		A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Missense_Mutation	SNP	ENST00000400314.1	37	c.1019A>T	CCDS42974.2	.	.	.	.	.	.	.	.	.	.	A	20.8	4.043457	0.75732	.	.	ENSG00000183570	ENST00000400314;ENST00000400310;ENST00000400309;ENST00000400308;ENST00000449640;ENST00000346743;ENST00000400305;ENST00000400304	T;T;T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65;1.65;1.65	4.08	4.08	0.47627	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.40094	0.1103	N	0.22421	0.69	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.997;0.967;0.998;0.981	D;D;P;D;P	0.85130	0.997;0.99;0.66;0.969;0.838	T	0.32903	-0.9889	10	0.52906	T	0.07	-7.1823	13.2327	0.59953	1.0:0.0:0.0:0.0	.	330;314;339;340;320	E9PFP8;P57721-2;P57721-4;P57721;P57721-5	.;.;.;PCBP3_HUMAN;.	L	340;320;339;314;340;320;291;330	ENSP00000383168:Q340L;ENSP00000383165:Q320L;ENSP00000383164:Q339L;ENSP00000383163:Q314L;ENSP00000401198:Q340L;ENSP00000383160:Q291L;ENSP00000383159:Q330L	ENSP00000330225:Q320L	Q	+	2	0	PCBP3	46184481	1.000000	0.71417	0.907000	0.35723	0.955000	0.61496	8.532000	0.90613	1.705000	0.51264	0.448000	0.29417	CAG		0.547	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2			4	109	0	0	0	1	0	4	109				
LOC101243545	101243545	broad.mit.edu	37	3	161146937	161146937	+	lincRNA	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr3:161146937G>A	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						AATTTTGTTGGCAACATCCAA	0.378																																						ENST00000473595.1																			0																				71.0	81.0	77.0					3																	161146937		1442	2583	4025			101243545							g.chr3:161146937G>A																													3.37:g.161146937G>A						RP11-3P17.5_ENST00000602890.1_lincRNA		NR_102265.1						0	1231	+									RNA	SNP	ENST00000473595.1	37																																																																																						0.378	RP11-3P17.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353185.1			5	207	0	0	0	1	0	5	207				
KLHL32	114792	broad.mit.edu	37	6	97580562	97580562	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr6:97580562G>T	ENST00000369261.4	+	10	2003	c.1640G>T	c.(1639-1641)gGg>gTg	p.G547V	KLHL32_ENST00000536676.1_Missense_Mutation_p.G511V|KLHL32_ENST00000544166.1_Missense_Mutation_p.G103V|KLHL32_ENST00000539200.1_Missense_Mutation_p.G478V	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	547										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		GTCCATAATGGGAGAATATAT	0.333																																						ENST00000369261.4																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(1639-1641)gGg>gTg		kelch-like family member 32							132.0	133.0	133.0					6																	97580562		2203	4300	6503	SO:0001583	missense	114792							g.chr6:97580562G>T	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.1640G>T	6.37:g.97580562G>T	ENSP00000358265:p.Gly547Val					KLHL32_ENST00000539200.1_Missense_Mutation_p.G478V|KLHL32_ENST00000544166.1_Missense_Mutation_p.G103V|KLHL32_ENST00000536676.1_Missense_Mutation_p.G511V	p.G547V	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	10	2003	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	547					B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	c.1640G>T	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487373	0.63962	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000544166;ENST00000539200	T;T;D;T	0.82619	-0.65;-0.65;-1.63;-0.65	5.55	4.62	0.57501	Kelch-type beta propeller (1);	0.221347	0.47455	D	0.000226	T	0.80859	0.4704	M	0.71581	2.175	0.80722	D	1	P;D;P;P	0.54047	0.944;0.964;0.918;0.878	B;P;P;P	0.52267	0.439;0.694;0.653;0.509	D	0.83626	0.0142	10	0.87932	D	0	.	8.4113	0.32644	0.1287:0.0:0.8713:0.0	.	478;511;547;103	B7Z4E2;B7Z346;Q96NJ5;Q8IXH0	.;.;KLH32_HUMAN;.	V	547;511;103;478	ENSP00000358265:G547V;ENSP00000440382:G511V;ENSP00000445453:G103V;ENSP00000441527:G478V	ENSP00000358265:G547V	G	+	2	0	KLHL32	97687283	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.823000	0.62694	1.414000	0.47017	0.591000	0.81541	GGG		0.333	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		7	95	1	0	0.000274275	1	0.000281089	7	95				
GRIN3A	116443	broad.mit.edu	37	9	104499572	104499572	+	Silent	SNP	C	C	T	rs368705360		TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr9:104499572C>T	ENST00000361820.3	-	1	1290	c.690G>A	c.(688-690)cgG>cgA	p.R230R		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	230					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CCTGACTCTCCCGTGGAAACT	0.602																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(688-690)cgG>cgA		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	C		0,4406		0,0,2203	48.0	43.0	45.0		690	4.5	1.0	9		45	1,8599		0,1,4299	no	coding-synonymous	GRIN3A	NM_133445.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		230/1116	104499572	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104499572C>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.690G>A	9.37:g.104499572C>T							p.R230R	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			1	1290	-		Acute lymphoblastic leukemia(62;0.0568)	230					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.690G>A	CCDS6758.1																																																																																				0.602	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			26	31	0	0	0	1	0	26	31				
MLLT10	8028	broad.mit.edu	37	10	21875274	21875274	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr10:21875274G>T	ENST00000307729.7	+	4	470	c.292G>T	c.(292-294)Ggg>Tgg	p.G98W	MLLT10_ENST00000446906.2_Missense_Mutation_p.G98W|MLLT10_ENST00000495130.1_3'UTR|MLLT10_ENST00000377059.3_Missense_Mutation_p.G98W|MLLT10_ENST00000377072.3_Missense_Mutation_p.G98W			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	98	Self-association.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AACAGATAATGGGGGTAAGTG	0.269			T	"""MLL, PICALM, CDK6"""	AL																																	ENST00000377072.3				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	"""MLL, PICALM, CDK6"""		AL		0				NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(292-294)Ggg>Tgg		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10							18.0	20.0	19.0					10																	21875274		2192	4286	6478	SO:0001583	missense	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:21875274G>T	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.292G>T	10.37:g.21875274G>T	ENSP00000307411:p.Gly98Trp					MLLT10_ENST00000307729.7_Missense_Mutation_p.G98W|MLLT10_ENST00000446906.2_Missense_Mutation_p.G98W|MLLT10_ENST00000377059.3_Missense_Mutation_p.G98W|MLLT10_ENST00000495130.1_3'UTR	p.G98W	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN			4	640	+			98			Self-association.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.292G>T	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043551	0.75732	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000377059	T;T;T;T	0.15256	2.44;2.44;2.44;2.44	4.38	4.38	0.52667	.	0.245297	0.32488	N	0.006030	T	0.52853	0.1760	H	0.94847	3.59	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.993;0.995;0.996	T	0.68131	-0.5490	10	0.87932	D	0	.	14.4108	0.67113	0.0:0.0:1.0:0.0	.	98;98;98	E9PBP4;Q5VX90;P55197	.;.;AF10_HUMAN	W	98	ENSP00000366272:G98W;ENSP00000401406:G98W;ENSP00000307411:G98W;ENSP00000366258:G98W	ENSP00000307411:G98W	G	+	1	0	MLLT10	21915280	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.859000	0.92264	1.979000	0.57680	0.305000	0.20034	GGG		0.269	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			9	40	1	0	1.08611e-07	1	1.14877e-07	9	40				
EZH2	2146	broad.mit.edu	37	7	148524338	148524338	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr7:148524338G>A	ENST00000460911.1	-	7	734	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W	EZH2_ENST00000478654.1_Missense_Mutation_p.R207W|EZH2_ENST00000320356.2_Missense_Mutation_p.R216W|EZH2_ENST00000536783.1_Missense_Mutation_p.R107W|EZH2_ENST00000541220.1_Missense_Mutation_p.R207W|EZH2_ENST00000350995.2_Missense_Mutation_p.R177W|EZH2_ENST00000476773.1_Missense_Mutation_p.R207W|EZH2_ENST00000483967.1_Missense_Mutation_p.R207W			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	216	Interaction with DNMT1, DNMT3A and DNMT3B.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			GGAAATTTCCGAGGTGGGCGG	0.338			Mis		DLBCL																																	ENST00000320356.2				Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359						c.(646-648)Cgg>Tgg		enhancer of zeste homolog 2 (Drosophila)							99.0	106.0	104.0					7																	148524338		2203	4300	6503	SO:0001583	missense	2146				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148524338G>A		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.646C>T	7.37:g.148524338G>A	ENSP00000419711:p.Arg216Trp					EZH2_ENST00000536783.1_Missense_Mutation_p.R107W|EZH2_ENST00000476773.1_Missense_Mutation_p.R207W|EZH2_ENST00000541220.1_Missense_Mutation_p.R207W|EZH2_ENST00000483967.1_Missense_Mutation_p.R207W|EZH2_ENST00000350995.2_Missense_Mutation_p.R177W|EZH2_ENST00000460911.1_Missense_Mutation_p.R216W|EZH2_ENST00000478654.1_Missense_Mutation_p.R207W	p.R216W	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		7	767	-	Melanoma(164;0.15)		216			Interaction with DNMT1, DNMT3A and DNMT3B.		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	c.646C>T	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	g	24.0	4.478768	0.84747	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967;ENST00000536783	D;D;D;D;D;D;D;T	0.94280	-3.35;-3.38;-3.38;-3.38;-3.35;-3.35;-3.39;0.85	5.6	5.6	0.85130	SANT domain, DNA binding (1);	0.051753	0.85682	D	0.000000	D	0.93916	0.8053	L	0.34521	1.04	0.51012	D	0.999905	D;D;D;D;D;D	0.76494	0.999;0.997;0.995;0.998;0.995;0.994	P;P;P;P;P;D	0.64776	0.895;0.877;0.877;0.884;0.877;0.929	D	0.94308	0.7543	10	0.72032	D	0.01	.	14.4565	0.67420	0.0:0.0:0.8529:0.1471	.	216;207;207;216;177;216	B7Z8K5;Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;.;EZH2_HUMAN;.;.	W	207;216;216;177;207;207;207;107	ENSP00000417062:R207W;ENSP00000320147:R216W;ENSP00000419711:R216W;ENSP00000223193:R177W;ENSP00000443219:R207W;ENSP00000419050:R207W;ENSP00000419856:R207W;ENSP00000439305:R107W	ENSP00000320147:R216W	R	-	1	2	EZH2	148155271	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.770000	0.62309	2.632000	0.89209	0.650000	0.86243	CGG		0.338	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		7	202	0	0	0	1	0	7	202				
SARDH	1757	broad.mit.edu	37	9	136535737	136535737	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr9:136535737G>A	ENST00000371872.4	-	19	2721	c.2464C>T	c.(2464-2466)Cgc>Tgc	p.R822C	SARDH_ENST00000371868.1_Missense_Mutation_p.R250C|SARDH_ENST00000422262.2_Missense_Mutation_p.R654C|SARDH_ENST00000439388.1_Missense_Mutation_p.R822C	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	822					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		AGGCGCCGGCGGAGGCCTGCG	0.692																																						ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(2464-2466)Cgc>Tgc		sarcosine dehydrogenase							11.0	11.0	11.0					9																	136535737		2156	4244	6400	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136535737G>A		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.2464C>T	9.37:g.136535737G>A	ENSP00000360938:p.Arg822Cys					SARDH_ENST00000371868.1_Missense_Mutation_p.R250C|SARDH_ENST00000439388.1_Missense_Mutation_p.R822C|SARDH_ENST00000422262.2_Missense_Mutation_p.R654C	p.R822C	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	19	2721	-			822					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.2464C>T	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877564	0.51801	.	.	ENSG00000123453	ENST00000371872;ENST00000371868;ENST00000439388;ENST00000422262	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.01	4.11	0.48088	Glycine cleavage T-protein, C-terminal barrel (1);	0.662201	0.14918	N	0.290805	D	0.83087	0.5178	M	0.78049	2.395	0.09310	N	0.99999	D;D	0.63046	0.98;0.992	P;P	0.58970	0.773;0.849	T	0.73861	-0.3849	10	0.72032	D	0.01	-15.8459	4.0819	0.09931	0.225:0.0:0.5954:0.1796	.	822;250	Q9UL12;Q5SYV2	SARDH_HUMAN;.	C	822;250;822;654	ENSP00000360938:R822C;ENSP00000360934:R250C;ENSP00000403084:R822C;ENSP00000415537:R654C	ENSP00000360934:R250C	R	-	1	0	SARDH	135525558	0.001000	0.12720	0.577000	0.28562	0.636000	0.38137	1.045000	0.30341	1.105000	0.41606	0.585000	0.79938	CGC		0.692	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			3	6	0	0	0	1	0	3	6				
MYO5A	4644	broad.mit.edu	37	15	52620117	52620117	+	Silent	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr15:52620117G>A	ENST00000399231.3	-	35	4810	c.4567C>T	c.(4567-4569)Ctg>Ttg	p.L1523L	MYO5A_ENST00000356338.6_Silent_p.L1496L|MYO5A_ENST00000358212.6_Silent_p.L1548L|MYO5A_ENST00000399233.2_Silent_p.L1520L|MYO5A_ENST00000553916.1_Silent_p.L1521L	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1523					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TCATCATTCAGGTAGTCAGCA	0.378																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(4567-4569)Ctg>Ttg		myosin VA (heavy chain 12, myoxin)							258.0	233.0	241.0					15																	52620117		1958	4162	6120	SO:0001819	synonymous_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52620117G>A		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.4567C>T	15.37:g.52620117G>A						MYO5A_ENST00000399233.2_Silent_p.L1520L|MYO5A_ENST00000356338.6_Silent_p.L1496L|MYO5A_ENST00000553916.1_Silent_p.L1521L|MYO5A_ENST00000358212.6_Silent_p.L1548L	p.L1523L	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	35	4810	-			1523					A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	37	c.4567C>T	CCDS42037.1																																																																																				0.378	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		30	219	0	0	0	1	0	30	219				
HSPE1	3336	broad.mit.edu	37	2	198365864	198365864	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:198365864G>A	ENST00000233893.5	+	2	513	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	HSPD1_ENST00000345042.2_5'Flank|HSPE1_ENST00000409729.1_Intron|HSPD1_ENST00000544407.1_5'Flank|HSPE1_ENST00000409468.1_Missense_Mutation_p.E24K|HSPE1-MOB4_ENST00000604458.1_Missense_Mutation_p.E24K|HSPD1_ENST00000388968.3_5'Flank|HSPE1_ENST00000465573.1_Intron	NM_002157.2	NP_002148.1	P61604	CH10_HUMAN	heat shock 10kDa protein 1	24					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|osteoblast differentiation (GO:0001649)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			lung(1)	1			Epithelial(96;0.225)			GAGTGCTGCTGAAACTGTAAC	0.408																																						ENST00000233893.5																			0				lung(1)	1						c.(70-72)Gaa>Aaa		heat shock 10kDa protein 1							62.0	63.0	62.0					2																	198365864		2203	4300	6503	SO:0001583	missense	3336							g.chr2:198365864G>A	AF109872	CCDS2320.1	2q33.1	2013-10-17	2013-10-17		ENSG00000115541	ENSG00000115541		"""Heat Shock Proteins / Chaperonins"""	5269	protein-coding gene	gene with protein product	"""chaperonin 10"""	600141	"""heat shock 10kD protein 1 (chaperonin 10)"""			7914093, 7698325	Standard	NM_002157		Approved	CPN10, GROES		P61604	OTTHUMG00000132749	ENST00000233893.5:c.70G>A	2.37:g.198365864G>A	ENSP00000233893:p.Glu24Lys					HSPE1_ENST00000465573.1_Intron|HSPE1_ENST00000409729.1_Intron|HSPE1_ENST00000409468.1_Missense_Mutation_p.E24K|MOB4_ENST00000604458.1_Missense_Mutation_p.E24K	p.E24K	NM_002157.2	NP_002148.1			Epithelial(96;0.225)		2	513	+								O95421|Q04984|Q53X54|Q9UDH0	Missense_Mutation	SNP	ENST00000233893.5	37	c.70G>A	CCDS2320.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396286	0.83011	.	.	ENSG00000115541	ENST00000233893;ENST00000409468	.	.	.	5.62	5.62	0.85841	GroES-like (1);Chaperonin Cpn10, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.71307	0.3324	M	0.73753	2.245	0.80722	D	1	B	0.10296	0.003	B	0.24394	0.053	T	0.68439	-0.5408	9	0.59425	D	0.04	-63.5871	19.6484	0.95791	0.0:0.0:1.0:0.0	.	24	P61604	CH10_HUMAN	K	24	.	ENSP00000233893:E24K	E	+	1	0	HSPE1	198074109	1.000000	0.71417	0.964000	0.40570	0.985000	0.73830	9.476000	0.97823	2.646000	0.89796	0.557000	0.71058	GAA		0.408	HSPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256112.1	NM_002157		7	91	0	0	0	1	0	7	91				
TAP1	6890	broad.mit.edu	37	6	32816571	32816571	+	Nonsense_Mutation	SNP	G	G	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr6:32816571G>C	ENST00000354258.4	-	7	1765	c.1604C>G	c.(1603-1605)tCa>tGa	p.S535*	TAPSAR1_ENST00000453426.1_lincRNA|PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Nonsense_Mutation_p.S274*	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	535	Involved in peptide-binding site.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	TATTTTCTCTGAGGAGCCCAC	0.522																																						ENST00000354258.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						c.(1603-1605)tCa>tGa		transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)							110.0	110.0	110.0					6																	32816571		2203	4300	6503	SO:0001587	stop_gained	6890				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32816571G>C		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.1604C>G	6.37:g.32816571G>C	ENSP00000346206:p.Ser535*					PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Nonsense_Mutation_p.S274*	p.S535*	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN			7	1765	-			535			Involved in peptide-binding site.		Q16149|Q96CP4	Nonsense_Mutation	SNP	ENST00000354258.4	37	c.1604C>G	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	G	41	8.721690	0.98929	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-2.3668	15.8841	0.79226	0.0:0.0:1.0:0.0	.	.	.	.	X	535;274	.	ENSP00000346206:S535X	S	-	2	0	TAP1	32924549	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	8.290000	0.89925	2.605000	0.88082	0.643000	0.83706	TCA		0.522	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593		6	94	0	0	0	1	0	6	94				
APPL2	55198	broad.mit.edu	37	12	105593155	105593155	+	Silent	SNP	T	T	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr12:105593155T>G	ENST00000258530.3	-	10	1084	c.859A>C	c.(859-861)Aga>Cga	p.R287R	APPL2_ENST00000551662.1_Silent_p.R293R|APPL2_ENST00000539978.2_Silent_p.R244R|APPL2_ENST00000549573.1_5'UTR	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TCTCACTTTCTAAGATTAAGG	0.453																																						ENST00000258530.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(859-861)Aga>Cga		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2							131.0	124.0	127.0					12																	105593155		2203	4300	6503	SO:0001819	synonymous_variant	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105593155T>G	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.859A>C	12.37:g.105593155T>G						APPL2_ENST00000549573.1_5'UTR|APPL2_ENST00000539978.2_Silent_p.R244R|APPL2_ENST00000551662.1_Silent_p.R293R	p.R287R	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN			10	1084	-			287			PH.|Required for RAB5A binding (By similarity).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Silent	SNP	ENST00000258530.3	37	c.859A>C	CCDS9101.1																																																																																				0.453	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		25	52	0	0	0	1	0	25	52				
AMOT	154796	broad.mit.edu	37	X	112054574	112054574	+	Silent	SNP	C	C	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chrX:112054574C>A	ENST00000524145.1	-	4	1514	c.1440G>T	c.(1438-1440)gtG>gtT	p.V480V	AMOT_ENST00000304758.1_Silent_p.V71V|AMOT_ENST00000371962.1_Silent_p.V248V|AMOT_ENST00000371959.3_Silent_p.V480V|AMOT_ENST00000371958.1_Silent_p.V248V			Q4VCS5	AMOT_HUMAN	angiomotin	480					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						AGGATGACTTCACGAGGTTCT	0.488																																						ENST00000371959.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1438-1440)gtG>gtT		angiomotin							185.0	156.0	166.0					X																	112054574		2203	4300	6503	SO:0001819	synonymous_variant	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112054574C>A	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1440G>T	X.37:g.112054574C>A						AMOT_ENST00000371962.1_Silent_p.V248V|AMOT_ENST00000524145.1_Silent_p.V480V|AMOT_ENST00000371958.1_Silent_p.V248V|AMOT_ENST00000304758.1_Silent_p.V71V	p.V480V	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			3	1439	-			480					Q504X5|Q9HD27|Q9UPT1	Silent	SNP	ENST00000524145.1	37	c.1440G>T	CCDS48154.1																																																																																				0.488	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		5	123	1	0	8.12818e-05	1	8.43491e-05	5	123				
FAM161B	145483	broad.mit.edu	37	14	74411446	74411446	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr14:74411446G>A	ENST00000534936.1	-	3	622	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	FAM161B_ENST00000286544.3_Missense_Mutation_p.R236W			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	173										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						CGGAATGGCCGAGGGACAGTA	0.667																																						ENST00000286544.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						c.(706-708)Cgg>Tgg		family with sequence similarity 161, member B							29.0	29.0	29.0					14																	74411446		2203	4300	6503	SO:0001583	missense	145483							g.chr14:74411446G>A	AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 44"""	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.517C>T	14.37:g.74411446G>A	ENSP00000445326:p.Arg173Trp					FAM161B_ENST00000534936.1_Missense_Mutation_p.R173W	p.R236W	NM_152445.2	NP_689658.2					3	904	-								B7Z882|J3KNA2	Missense_Mutation	SNP	ENST00000534936.1	37	c.706C>T		.	.	.	.	.	.	.	.	.	.	G	17.75	3.465946	0.63625	.	.	ENSG00000156050	ENST00000286544;ENST00000534936	T;T	0.22945	1.93;1.93	5.17	4.24	0.50183	.	0.454705	0.21676	N	0.070799	T	0.39784	0.1091	L	0.46157	1.445	0.25490	N	0.987657	D	0.76494	0.999	D	0.63597	0.916	T	0.09618	-1.0666	10	0.87932	D	0	-0.8413	11.9458	0.52928	0.0:0.137:0.7364:0.1266	.	173	Q96MY7	F161B_HUMAN	W	236;173	ENSP00000286544:R236W;ENSP00000445326:R173W	ENSP00000286544:R236W	R	-	1	2	FAM161B	73481199	0.976000	0.34144	0.993000	0.49108	0.474000	0.32979	3.316000	0.51960	2.688000	0.91661	0.563000	0.77884	CGG		0.667	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445		23	36	0	0	0	1	0	23	36				
SCUBE3	222663	broad.mit.edu	37	6	35211469	35211469	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr6:35211469G>A	ENST00000274938.7	+	16	2008	c.2008G>A	c.(2008-2010)Gac>Aac	p.D670N	SCUBE3_ENST00000394681.1_Missense_Mutation_p.D686N	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						GCTCTCCTGCGACCTTTGCCC	0.622																																						ENST00000274938.7																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						c.(2008-2010)Gac>Aac		signal peptide, CUB domain, EGF-like 3							61.0	59.0	60.0					6																	35211469		2203	4300	6503	SO:0001583	missense	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35211469G>A	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.2008G>A	6.37:g.35211469G>A	ENSP00000274938:p.Asp670Asn					SCUBE3_ENST00000394681.1_Missense_Mutation_p.D686N	p.D670N	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN			16	2008	+			670						Missense_Mutation	SNP	ENST00000274938.7	37	c.2008G>A	CCDS4800.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932319	0.92389	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	T;T	0.28895	1.59;1.59	5.59	5.59	0.84812	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.094068	0.64402	D	0.000001	T	0.29556	0.0737	L	0.31845	0.965	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.60682	0.807;0.878	T	0.01504	-1.1338	10	0.13853	T	0.58	.	19.5893	0.95501	0.0:0.0:1.0:0.0	.	686;670	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	N	686;670	ENSP00000378174:D686N;ENSP00000274938:D670N	ENSP00000274938:D670N	D	+	1	0	SCUBE3	35319447	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.639000	0.89480	0.655000	0.94253	GAC		0.622	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		4	72	0	0	0	1	0	4	72				
ZNF638	27332	broad.mit.edu	37	2	71629092	71629092	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:71629092G>C	ENST00000409544.1	+	16	3334	c.2704G>C	c.(2704-2706)Gaa>Caa	p.E902Q	ZNF638_ENST00000264447.4_Missense_Mutation_p.E902Q|ZNF638_ENST00000355812.3_Missense_Mutation_p.E902Q	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	902					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GAAGGAAACAGAAGAAATGTG	0.264																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(2704-2706)Gaa>Caa		zinc finger protein 638							68.0	73.0	72.0					2																	71629092		2203	4297	6500	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71629092G>C	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.2704G>C	2.37:g.71629092G>C	ENSP00000386433:p.Glu902Gln					ZNF638_ENST00000355812.3_Missense_Mutation_p.E902Q|ZNF638_ENST00000264447.4_Missense_Mutation_p.E902Q	p.E902Q	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			16	3334	+			902					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.2704G>C	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006936	0.54361	.	.	ENSG00000075292	ENST00000394137;ENST00000355812;ENST00000264447;ENST00000409544	T;T;T	0.59502	0.26;1.26;1.26	5.69	5.69	0.88448	.	0.382752	0.27691	N	0.018253	T	0.57740	0.2074	M	0.61703	1.905	0.80722	D	1	P;P;P;P	0.42692	0.682;0.634;0.787;0.682	B;B;P;B	0.44359	0.261;0.215;0.447;0.261	T	0.57359	-0.7825	10	0.37606	T	0.19	-14.4221	10.6957	0.45896	0.0862:0.0:0.9138:0.0	.	902;902;902;902	A8K583;Q14966-4;Q14966-3;Q14966	.;.;.;ZN638_HUMAN	Q	481;902;902;902	ENSP00000348066:E902Q;ENSP00000264447:E902Q;ENSP00000386433:E902Q	ENSP00000264447:E902Q	E	+	1	0	ZNF638	71482600	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.073000	0.57570	2.682000	0.91365	0.585000	0.79938	GAA		0.264	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		12	54	0	0	0	1	0	12	54				
ARHGAP27	201176	broad.mit.edu	37	17	43473378	43473378	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr17:43473378G>A	ENST00000428638.1	-	15	2356	c.2357C>T	c.(2356-2358)tCg>tTg	p.S786L	ARHGAP27_ENST00000532038.1_Missense_Mutation_p.S564L|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.S445L|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.S764L|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.S418L|CTB-39G8.3_ENST00000592389.1_RNA|ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.S759L|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.S445L			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	786	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					GCGGAAGTGCGAGAAGGGGAA	0.667																																						ENST00000532038.1																			0				endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17						c.(1690-1692)tCg>tTg		Rho GTPase activating protein 27							26.0	30.0	29.0					17																	43473378		2203	4300	6503	SO:0001583	missense	201176				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding	g.chr17:43473378G>A	AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	31813	protein-coding gene	gene with protein product		610591	"""SH3 domain containing 20"""	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.2357C>T	17.37:g.43473378G>A	ENSP00000403323:p.Ser786Leu					ARHGAP27_ENST00000428638.1_Missense_Mutation_p.S786L|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.S764L|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.S418L|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.S445L|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.S759L|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.S445L	p.S564L			Q6ZUM4	RHG27_HUMAN			14	1826	-	Renal(3;0.0405)		786			PH.		A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Missense_Mutation	SNP	ENST00000428638.1	37	c.1691C>T		.	.	.	.	.	.	.	.	.	.	G	16.48	3.136461	0.56936	.	.	ENSG00000159314	ENST00000532038;ENST00000376922;ENST00000528384;ENST00000532891;ENST00000428638;ENST00000442348;ENST00000455881	T;T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11;2.11	4.62	4.62	0.57501	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.285268	0.34268	N	0.004107	T	0.25344	0.0616	L	0.52126	1.63	0.49389	D	0.999785	D;D	0.67145	0.996;0.968	P;P	0.50970	0.594;0.655	T	0.01397	-1.1365	10	0.18276	T	0.48	.	10.8043	0.46507	0.0:0.1917:0.8083:0.0	.	759;786	F8WBX1;Q6ZUM4	.;RHG27_HUMAN	L	564;445;418;764;786;759;445	ENSP00000432762:S564L;ENSP00000366121:S445L;ENSP00000431591:S418L;ENSP00000433942:S764L;ENSP00000403323:S786L;ENSP00000409330:S759L;ENSP00000408235:S445L	ENSP00000366121:S445L	S	-	2	0	ARHGAP27	40829161	0.151000	0.22747	0.998000	0.56505	0.975000	0.68041	1.040000	0.30278	2.409000	0.81822	0.655000	0.94253	TCG		0.667	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		NM_199282		8	20	0	0	0	1	0	8	20				
BTN3A1	11119	broad.mit.edu	37	6	26409904	26409904	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr6:26409904G>C	ENST00000289361.6	+	5	1227	c.859G>C	c.(859-861)Gag>Cag	p.E287Q	BTN3A1_ENST00000414912.2_Missense_Mutation_p.E235Q|BTN3A1_ENST00000425234.2_Missense_Mutation_p.E287Q|BTN3A1_ENST00000476549.2_Missense_Mutation_p.E287Q	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	287					activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GAAAAAGAGAGAGCAAGAGTT	0.507																																						ENST00000289361.6																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(859-861)Gag>Cag		butyrophilin, subfamily 3, member A1							128.0	141.0	137.0					6																	26409904		2203	4300	6503	SO:0001583	missense	11119				lipid metabolic process	integral to membrane		g.chr6:26409904G>C	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.859G>C	6.37:g.26409904G>C	ENSP00000289361:p.Glu287Gln					BTN3A1_ENST00000476549.2_Missense_Mutation_p.E287Q|BTN3A1_ENST00000425234.2_Missense_Mutation_p.E287Q|BTN3A1_ENST00000414912.2_Missense_Mutation_p.E235Q	p.E287Q	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN			5	1227	+			287					A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	ENST00000289361.6	37	c.859G>C	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	6.783	0.513400	0.12944	.	.	ENSG00000026950	ENST00000476549;ENST00000289361;ENST00000425234;ENST00000414912	T;T;T;T	0.51325	3.76;1.07;3.77;0.71	1.18	-0.85	0.10720	.	.	.	.	.	T	0.20333	0.0489	M	0.76838	2.35	0.09310	N	1	B;B;B;B	0.33940	0.172;0.433;0.433;0.307	B;B;B;B	0.30029	0.037;0.11;0.11;0.051	T	0.16129	-1.0413	9	0.30078	T	0.28	.	4.0391	0.09743	0.4676:0.0:0.5324:0.0	.	235;287;287;287	E9PGB4;O00481-3;O00481-2;O00481	.;.;.;BT3A1_HUMAN	Q	287;287;287;235	ENSP00000420010:E287Q;ENSP00000289361:E287Q;ENSP00000396684:E287Q;ENSP00000406667:E235Q	ENSP00000289361:E287Q	E	+	1	0	BTN3A1	26517883	0.012000	0.17670	0.000000	0.03702	0.145000	0.21501	1.690000	0.37711	-0.347000	0.08299	0.603000	0.83216	GAG		0.507	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3			16	161	0	0	0	1	0	16	161				
TM7SF2	7108	broad.mit.edu	37	11	64881045	64881045	+	Silent	SNP	G	G	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr11:64881045G>C	ENST00000279263.7	+	5	744	c.582G>C	c.(580-582)ctG>ctC	p.L194L	AP003068.9_ENST00000528887.1_RNA|TM7SF2_ENST00000540748.1_Silent_p.L78L|TM7SF2_ENST00000345348.5_Silent_p.L194L|TM7SF2_ENST00000531029.1_Intron	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	194					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCTGTGAACTGCGACCCGGCC	0.557																																						ENST00000279263.7																			0				lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(580-582)ctG>ctC		transmembrane 7 superfamily member 2							137.0	136.0	137.0					11																	64881045		1889	4098	5987	SO:0001819	synonymous_variant	7108				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	g.chr11:64881045G>C	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"""delta(14)-sterol reductase"""	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.582G>C	11.37:g.64881045G>C						TM7SF2_ENST00000345348.5_Silent_p.L194L|TM7SF2_ENST00000531029.1_Intron|TM7SF2_ENST00000540748.1_Silent_p.L78L	p.L194L	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN			5	744	+			194					A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Silent	SNP	ENST00000279263.7	37	c.582G>C	CCDS41669.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255559	0.22965	.	.	ENSG00000149809	ENST00000528802	.	.	.	4.83	1.79	0.24919	.	.	.	.	.	T	0.61160	0.2325	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56068	-0.8040	4	.	.	.	-9.8843	11.7637	0.51918	0.0:0.0:0.3778:0.6222	.	.	.	.	S	22	.	.	C	+	2	0	TM7SF2	64637621	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	1.333000	0.33816	0.210000	0.20664	-0.500000	0.04577	TGC		0.557	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273		93	220	0	0	0	1	0	93	220				
PAPPA2	60676	broad.mit.edu	37	1	176526050	176526050	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:176526050C>T	ENST00000367662.3	+	2	1756	c.592C>T	c.(592-594)Cgt>Tgt	p.R198C	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R198C	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	198					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTCCAGGCAGCGTCGCCAAGT	0.577																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(592-594)Cgt>Tgt		pappalysin 2							98.0	107.0	104.0					1																	176526050		2004	4151	6155	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176526050C>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.592C>T	1.37:g.176526050C>T	ENSP00000356634:p.Arg198Cys					PAPPA2_ENST00000367661.3_Missense_Mutation_p.R198C	p.R198C	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			2	1756	+			198					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.592C>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372929	0.61624	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.37411	4.47;1.2	4.01	4.01	0.46588	.	0.375981	0.19866	U	0.104313	T	0.37237	0.0996	L	0.56769	1.78	0.09310	N	1	D;D	0.69078	0.994;0.997	P;B	0.44597	0.454;0.446	T	0.35176	-0.9799	10	0.66056	D	0.02	.	11.6187	0.51104	0.0:1.0:0.0:0.0	.	198;198	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	C	198	ENSP00000356634:R198C;ENSP00000356633:R198C	ENSP00000356633:R198C	R	+	1	0	PAPPA2	174792673	0.001000	0.12720	0.015000	0.15790	0.299000	0.27559	1.312000	0.33574	1.798000	0.52647	0.313000	0.20887	CGT		0.577	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			24	115	0	0	0	1	0	24	115				
PCBP1	5093	broad.mit.edu	37	2	70315336	70315336	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:70315336C>A	ENST00000303577.5	+	1	752	c.461C>A	c.(460-462)tCt>tAt	p.S154Y	PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000601396.1_RNA|PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000421255.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000421843.1_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000435880.2_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	154	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						GTGCCGCAGTCTGTCACCGAG	0.627																																					Colon(85;1146 1307 3484 18706 25380)	ENST00000303577.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						c.(460-462)tCt>tAt		poly(rC) binding protein 1							49.0	47.0	48.0					2																	70315336		2203	4300	6503	SO:0001583	missense	5093				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding	g.chr2:70315336C>A		CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564			8647	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein E1"""	601209	"""poly(rC)-binding protein 1"""			8833161	Standard	NM_006196		Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.461C>A	2.37:g.70315336C>A	ENSP00000305556:p.Ser154Tyr					PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA	p.S154Y	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN			1	752	+			154			KH 2.		Q13157|Q14975	Missense_Mutation	SNP	ENST00000303577.5	37	c.461C>A	CCDS1898.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.906011	0.72868	.	.	ENSG00000169564	ENST00000303577	T	0.35048	1.33	4.03	4.03	0.46877	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.66694	0.2815	M	0.91872	3.25	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.75085	-0.3442	10	0.72032	D	0.01	.	14.5464	0.68032	0.0:1.0:0.0:0.0	.	154	Q15365	PCBP1_HUMAN	Y	154	ENSP00000305556:S154Y	ENSP00000305556:S154Y	S	+	2	0	PCBP1	70168840	1.000000	0.71417	0.977000	0.42913	0.993000	0.82548	7.499000	0.81566	2.553000	0.86117	0.650000	0.86243	TCT		0.627	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1	NM_006196		26	43	1	0	3.28513e-13	1	3.68739e-13	26	43				
NPAP1	23742	broad.mit.edu	37	15	24923764	24923764	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr15:24923764G>A	ENST00000329468.2	+	1	3224	c.2750G>A	c.(2749-2751)gGg>gAg	p.G917E		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	917					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TTTATTCTGGGGAATCCAGCA	0.478																																						ENST00000329468.2																			0											c.(2749-2751)gGg>gAg		nuclear pore associated protein 1							107.0	113.0	111.0					15																	24923764		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24923764G>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2750G>A	15.37:g.24923764G>A	ENSP00000333735:p.Gly917Glu						p.G917E	NM_018958.2	NP_061831.2					1	3224	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.2750G>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	16.20	3.055853	0.55325	.	.	ENSG00000185823	ENST00000329468	T	0.10099	2.91	2.32	1.38	0.22167	.	0.385935	0.19180	N	0.120715	T	0.13670	0.0331	L	0.27053	0.805	0.09310	N	1	D	0.89917	1.0	D	0.66979	0.948	T	0.12016	-1.0564	10	0.32370	T	0.25	.	4.6721	0.12694	0.1889:0.0:0.8111:0.0	.	917	Q9NZP6	CO002_HUMAN	E	917	ENSP00000333735:G917E	ENSP00000333735:G917E	G	+	2	0	C15orf2	22474857	0.214000	0.23563	0.001000	0.08648	0.764000	0.43329	1.675000	0.37555	0.518000	0.28383	0.313000	0.20887	GGG		0.478	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		6	140	0	0	0	1	0	6	140				
SYNE1	23345	broad.mit.edu	37	6	152527354	152527354	+	Silent	SNP	T	T	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr6:152527354T>C	ENST00000367255.5	-	126	23569	c.22968A>G	c.(22966-22968)tcA>tcG	p.S7656S	SYNE1_ENST00000341594.5_Silent_p.S7268S|SYNE1_ENST00000448038.1_Silent_p.S7585S|SYNE1_ENST00000356820.4_Silent_p.S2180S|SYNE1_ENST00000265368.4_Silent_p.S7656S|SYNE1_ENST00000423061.1_Silent_p.S7585S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7656					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)		GCATGCTGGCTGATTTCCATT	0.483										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.(22966-22968)tcA>tcG		spectrin repeat containing, nuclear envelope 1							75.0	72.0	73.0					6																	152527354		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152527354T>C	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.22968A>G	6.37:g.152527354T>C		HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Silent_p.S7656S|SYNE1_ENST00000356820.4_Silent_p.S2180S|SYNE1_ENST00000448038.1_Silent_p.S7585S|SYNE1_ENST00000423061.1_Silent_p.S7585S|SYNE1_ENST00000341594.5_Silent_p.S7268S	p.S7656S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	126	23569	-		Ovarian(120;0.0955)	7656					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.22968A>G	CCDS5236.2																																																																																				0.483	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		24	57	0	0	0	1	0	24	57				
CYP11B2	1585	broad.mit.edu	37	8	143999025	143999025	+	Missense_Mutation	SNP	T	T	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr8:143999025T>C	ENST00000323110.2	-	1	234	c.232A>G	c.(232-234)Att>Gtt	p.I78V		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	78					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	TACCTGAAAATGGGCCCCAGC	0.632									Familial Hyperaldosteronism type I																													ENST00000323110.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39						c.(232-234)Att>Gtt		cytochrome P450, family 11, subfamily B, polypeptide 2	Candesartan(DB00796)|Metyrapone(DB01011)						73.0	70.0	71.0					8																	143999025		2203	4300	6503	SO:0001583	missense	1585	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143999025T>C	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.232A>G	8.37:g.143999025T>C	ENSP00000325822:p.Ile78Val						p.I78V	NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN			1	234	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		78					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.232A>G	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	18.02	3.529359	0.64860	.	.	ENSG00000179142	ENST00000323110	T	0.69175	-0.38	3.17	3.17	0.36434	.	0.000000	0.42294	D	0.000727	T	0.79221	0.4409	M	0.79693	2.465	0.46113	D	0.998874	D	0.76494	0.999	D	0.77004	0.989	T	0.79196	-0.1903	10	0.45353	T	0.12	.	9.7589	0.40519	0.0:0.0:0.0:1.0	.	78	P19099	C11B2_HUMAN	V	78	ENSP00000325822:I78V	ENSP00000325822:I78V	I	-	1	0	CYP11B2	143996027	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.676000	0.61627	1.471000	0.48121	0.374000	0.22700	ATT		0.632	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			43	97	0	0	0	1	0	43	97				
NRG3	10718	broad.mit.edu	37	10	84738818	84738818	+	Missense_Mutation	SNP	G	G	C	rs144926296		TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr10:84738818G>C	ENST00000404547.1	+	8	1525	c.1525G>C	c.(1525-1527)Gca>Cca	p.A509P	NRG3_ENST00000556918.1_Missense_Mutation_p.A339P|NRG3_ENST00000372142.2_Missense_Mutation_p.A288P|NRG3_ENST00000537893.1_Missense_Mutation_p.A159P|NRG3_ENST00000372141.2_Missense_Mutation_p.A509P|NRG3_ENST00000545131.1_Missense_Mutation_p.A159P|NRG3_ENST00000404576.2_Missense_Mutation_p.A313P			P56975	NRG3_HUMAN	neuregulin 3	509					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TGTGGGACCAGCATATCAGCA	0.517																																						ENST00000372142.2																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(862-864)Gca>Cca		neuregulin 3							114.0	96.0	102.0					10																	84738818		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84738818G>C	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1525G>C	10.37:g.84738818G>C	ENSP00000384796:p.Ala509Pro					NRG3_ENST00000404547.1_Missense_Mutation_p.A509P|NRG3_ENST00000404576.2_Missense_Mutation_p.A313P|NRG3_ENST00000372141.2_Missense_Mutation_p.A509P|NRG3_ENST00000556918.1_Missense_Mutation_p.A339P|NRG3_ENST00000545131.1_Missense_Mutation_p.A159P|NRG3_ENST00000537893.1_Missense_Mutation_p.A159P	p.A288P	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	9	1136	+			509			EGF-like.		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.862G>C	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512885	0.85389	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.53206	1.19;1.13;1.12;0.63;0.63;0.63;0.63	5.79	5.79	0.91817	.	0.292022	0.33364	N	0.005000	T	0.65112	0.2660	L	0.55481	1.735	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.998;0.987;0.999;0.998	T	0.60606	-0.7230	10	0.39692	T	0.17	-47.255	17.6117	0.88055	0.0:0.0:1.0:0.0	.	508;509;288;509	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	P	509;509;508;288;313;339;159;159	ENSP00000361214:A509P;ENSP00000384796:A509P;ENSP00000361215:A288P;ENSP00000385804:A313P;ENSP00000451376:A339P;ENSP00000441201:A159P;ENSP00000440377:A159P	ENSP00000361214:A509P	A	+	1	0	NRG3	84728798	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	6.664000	0.74437	2.759000	0.94783	0.558000	0.71614	GCA		0.517	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		19	34	0	0	0	1	0	19	34				
TLL1	7092	broad.mit.edu	37	4	166986935	166986935	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr4:166986935C>T	ENST00000061240.2	+	16	2755	c.2108C>T	c.(2107-2109)tCc>tTc	p.S703F	TLL1_ENST00000507499.1_Missense_Mutation_p.S726F	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	703	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GTGATCACATCCCAGTTCAAC	0.398																																						ENST00000061240.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(2107-2109)tCc>tTc		tolloid-like 1							150.0	145.0	147.0					4																	166986935		2203	4299	6502	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166986935C>T	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2108C>T	4.37:g.166986935C>T	ENSP00000061240:p.Ser703Phe					TLL1_ENST00000507499.1_Missense_Mutation_p.S726F	p.S703F	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	16	2755	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	703			CUB 3.		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.2108C>T	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861513	0.71949	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.40476	1.03;1.03	5.97	5.97	0.96955	CUB (5);	0.000000	0.85682	U	0.000000	T	0.77136	0.4086	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82629	-0.0363	10	0.66056	D	0.02	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	726;703	E9PD25;O43897	.;TLL1_HUMAN	F	703;726	ENSP00000061240:S703F;ENSP00000426082:S726F	ENSP00000061240:S703F	S	+	2	0	TLL1	167206385	1.000000	0.71417	0.471000	0.27229	0.180000	0.23129	7.776000	0.85560	2.836000	0.97738	0.655000	0.94253	TCC		0.398	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			21	92	0	0	0	1	0	21	92				
LILRB4	11006	broad.mit.edu	37	19	55178164	55178164	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr19:55178164C>A	ENST00000391736.1	+	12	1320	c.1005C>A	c.(1003-1005)aaC>aaA	p.N335K	LILRB4_ENST00000391733.3_Missense_Mutation_p.N336K|LILRB4_ENST00000391734.3_Missense_Mutation_p.N335K|LILRB4_ENST00000270452.2_Missense_Mutation_p.N335K|LILRB4_ENST00000430952.2_Missense_Mutation_p.N335K	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	335			N -> D (in dbSNP:rs11574576).		immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CCGTGAAGAACACACAGCCTG	0.612																																						ENST00000391736.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39						c.(1003-1005)aaC>aaA		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4							126.0	114.0	118.0					19																	55178164		2203	4300	6503	SO:0001583	missense	11006					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55178164C>A	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1005C>A	19.37:g.55178164C>A	ENSP00000375616:p.Asn335Lys					LILRB4_ENST00000391734.3_Missense_Mutation_p.N335K|LILRB4_ENST00000391733.3_Missense_Mutation_p.N336K|LILRB4_ENST00000430952.2_Missense_Mutation_p.N335K|LILRB4_ENST00000270452.2_Missense_Mutation_p.N335K	p.N335K	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	12	1320	+			335		N -> D (in dbSNP:rs11574576).			A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	c.1005C>A	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	C	7.041	0.562617	0.13498	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.00481	7.2;7.2;7.2;7.2;7.22;7.11	1.9	0.842	0.18927	.	.	.	.	.	T	0.00356	0.0011	L	0.39898	1.24	0.09310	N	1	B;B;B;B;B	0.24920	0.001;0.013;0.006;0.114;0.032	B;B;B;B;B	0.19391	0.0;0.011;0.006;0.025;0.007	T	0.43766	-0.9371	9	0.72032	D	0.01	.	4.1104	0.10057	0.0:0.7832:0.0:0.2168	.	335;334;336;335;335	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;.;LIRB4_HUMAN	K	335;335;335;335;336;334	ENSP00000375616:N335K;ENSP00000270452:N335K;ENSP00000408995:N335K;ENSP00000375614:N335K;ENSP00000375613:N336K;ENSP00000401962:N334K	ENSP00000270452:N335K	N	+	3	2	LILRB4	59869976	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	-0.028000	0.12350	0.353000	0.24079	0.511000	0.50034	AAC		0.612	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			40	60	1	0	1.04594e-18	1	1.19847e-18	40	60				
PRCP	5547	broad.mit.edu	37	11	82571062	82571062	+	Missense_Mutation	SNP	T	T	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr11:82571062T>C	ENST00000313010.3	-	2	460	c.266A>G	c.(265-267)tAc>tGc	p.Y89C	PRCP_ENST00000535099.1_Intron|PRCP_ENST00000393399.2_Missense_Mutation_p.Y110C	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	89					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						ATTACCAGTGTAGAAAAGTAT	0.338																																						ENST00000313010.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(265-267)tAc>tGc		prolylcarboxypeptidase (angiotensinase C)							103.0	96.0	98.0					11																	82571062		2203	4297	6500	SO:0001583	missense	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82571062T>C	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.266A>G	11.37:g.82571062T>C	ENSP00000317362:p.Tyr89Cys					PRCP_ENST00000393399.2_Missense_Mutation_p.Y110C|PRCP_ENST00000535099.1_Intron	p.Y89C	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN			2	460	-			89					A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	ENST00000313010.3	37	c.266A>G	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.261883	0.80358	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000529671;ENST00000532809	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.51736	0.1692	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.62996	-0.6735	9	.	.	.	-15.2568	15.9773	0.80079	0.0:0.0:0.0:1.0	.	89;110	P42785;A8MU24	PCP_HUMAN;.	C	89;110;48;35	ENSP00000317362:Y89C;ENSP00000377055:Y110C;ENSP00000434771:Y48C;ENSP00000437169:Y35C	.	Y	-	2	0	PRCP	82248710	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.697000	0.84279	2.189000	0.69895	0.402000	0.26972	TAC		0.338	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040		12	109	0	0	0	1	0	12	109				
HTR5A	3361	broad.mit.edu	37	7	154863065	154863065	+	Silent	SNP	C	C	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr7:154863065C>A	ENST00000287907.2	+	1	1032	c.456C>A	c.(454-456)cgC>cgA	p.R152R	HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000395731.2_5'UTR|HTR5A-AS1_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	152					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	ACACGCTCCGCACCCGCAAGT	0.622																																						ENST00000287907.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(454-456)cgC>cgA		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							98.0	71.0	80.0					7																	154863065		2203	4300	6503	SO:0001819	synonymous_variant	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154863065C>A		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.456C>A	7.37:g.154863065C>A						AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_5'UTR	p.R152R	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	1032	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	152					Q2M2D2	Silent	SNP	ENST00000287907.2	37	c.456C>A	CCDS5936.1																																																																																				0.622	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		18	34	1	0	2.4624e-09	1	2.63828e-09	18	34				
NBAS	51594	broad.mit.edu	37	2	15615864	15615864	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:15615864C>G	ENST00000281513.5	-	14	1313	c.1288G>C	c.(1288-1290)Gaa>Caa	p.E430Q	NBAS_ENST00000441750.1_Missense_Mutation_p.E430Q	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	430					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GGTGATGGTTCAAACCATTCA	0.398																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(1288-1290)Gaa>Caa		neuroblastoma amplified sequence							79.0	81.0	81.0					2																	15615864		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15615864C>G	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.1288G>C	2.37:g.15615864C>G	ENSP00000281513:p.Glu430Gln					NBAS_ENST00000441750.1_Missense_Mutation_p.E430Q	p.E430Q	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			14	1313	-			430					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.1288G>C	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966806	0.74131	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.11169	2.8;2.94	5.86	5.86	0.93980	.	0.097479	0.64402	D	0.000002	T	0.31358	0.0794	L	0.49350	1.555	0.36842	D	0.887421	D	0.89917	1.0	D	0.83275	0.996	T	0.02713	-1.1120	10	0.87932	D	0	.	20.1747	0.98176	0.0:1.0:0.0:0.0	.	430	A2RRP1	NBAS_HUMAN	Q	430	ENSP00000413201:E430Q;ENSP00000281513:E430Q	ENSP00000281513:E430Q	E	-	1	0	NBAS	15533315	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.783000	0.85696	2.775000	0.95449	0.561000	0.74099	GAA		0.398	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		24	50	0	0	0	1	0	24	50				
BCOR	54880	broad.mit.edu	37	X	39933063	39933063	+	Silent	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chrX:39933063G>A	ENST00000378444.4	-	4	1764	c.1536C>T	c.(1534-1536)ccC>ccT	p.P512P	BCOR_ENST00000342274.4_Silent_p.P512P|BCOR_ENST00000378455.4_Silent_p.P512P|BCOR_ENST00000397354.3_Silent_p.P512P	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	512	Interaction with BCL6.				heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GACTTGGCCCGGGCACCACCC	0.502			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(1534-1536)ccC>ccT		BCL6 corepressor							93.0	59.0	70.0					X																	39933063		2202	4300	6502	SO:0001819	synonymous_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39933063G>A	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.1536C>T	X.37:g.39933063G>A						BCOR_ENST00000397354.3_Silent_p.P512P|BCOR_ENST00000378444.4_Silent_p.P512P|BCOR_ENST00000378455.4_Silent_p.P512P	p.P512P	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	1898	-			512			Interaction with BCL6.		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	c.1536C>T	CCDS48093.1																																																																																				0.502	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		3	46	0	0	0	1	0	3	46				
SESTD1	91404	broad.mit.edu	37	2	180016043	180016043	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:180016043G>C	ENST00000428443.3	-	6	761	c.445C>G	c.(445-447)Ctc>Gtc	p.L149V		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	149	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						phosphatidic acid binding (GO:0070300)|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)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCATAGGTGAGACTCCCACCA	0.313																																						ENST00000428443.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30						c.(445-447)Ctc>Gtc		SEC14 and spectrin domains 1							82.0	82.0	82.0					2																	180016043		2203	4300	6503	SO:0001583	missense	91404				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	g.chr2:180016043G>C	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.445C>G	2.37:g.180016043G>C	ENSP00000415332:p.Leu149Val						p.L149V	NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		6	761	-			149			CRAL-TRIO.		Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	ENST00000428443.3	37	c.445C>G	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710110	0.68730	.	.	ENSG00000187231	ENST00000428443	T	0.36699	1.24	5.68	5.68	0.88126	Cellular retinaldehyde-binding/triple function, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68421	0.2999	M	0.88377	2.95	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.71882	-0.4458	9	.	.	.	-6.7645	20.1553	0.98111	0.0:0.0:1.0:0.0	.	149	Q86VW0	SESD1_HUMAN	V	149	ENSP00000415332:L149V	.	L	-	1	0	SESTD1	179724288	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.827000	0.86722	2.838000	0.97847	0.591000	0.81541	CTC		0.313	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		27	101	0	0	0	1	0	27	101				
DSCAM	1826	broad.mit.edu	37	21	41741069	41741069	+	Silent	SNP	G	G	A	rs549966603	byFrequency	TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr21:41741069G>A	ENST00000400454.1	-	4	1089	c.612C>T	c.(610-612)acC>acT	p.T204T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	204	Ig-like C2-type 2.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCGTCTCTCCGGTGTATCGAT	0.438													g|||	3	0.000599042	0.0	0.0	5008	,	,		16299	0.003		0.0	False		,,,				2504	0.0				Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(610-612)acC>acT		Down syndrome cell adhesion molecule							98.0	99.0	99.0					21																	41741069		1963	4148	6111	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41741069G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.612C>T	21.37:g.41741069G>A							p.T204T	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			4	1089	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	204			Ig-like C2-type 2.		O60468	Silent	SNP	ENST00000400454.1	37	c.612C>T	CCDS42929.1																																																																																				0.438	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		18	80	0	0	0	1	0	18	80				
USH2A	7399	broad.mit.edu	37	1	215848734	215848734	+	Silent	SNP	C	C	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:215848734C>G	ENST00000307340.3	-	63	12905	c.12519G>C	c.(12517-12519)ctG>ctC	p.L4173L	USH2A_ENST00000366943.2_Silent_p.L4173L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4173	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAGACCAGCTCAGCTCAACAC	0.522										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(12517-12519)ctG>ctC		Usher syndrome 2A (autosomal recessive, mild)							81.0	82.0	82.0					1																	215848734		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215848734C>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12519G>C	1.37:g.215848734C>G		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.L4173L	p.L4173L			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	12905	-			4173			Fibronectin type-III 27.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.12519G>C	CCDS31025.1																																																																																				0.522	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		16	85	0	0	0	1	0	16	85				
UHRF1BP1L	23074	broad.mit.edu	37	12	100452833	100452833	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr12:100452833G>A	ENST00000279907.7	-	14	2434	c.2222C>T	c.(2221-2223)cCg>cTg	p.P741L	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.P391L	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	741								p.P741L(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ACAAGTCTGCGGCTCTTTTTG	0.403																																						ENST00000279907.7																			1	Substitution - Missense(1)	p.P741L(1)	large_intestine(1)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(2221-2223)cCg>cTg		UHRF1 binding protein 1-like																																				SO:0001583	missense	23074							g.chr12:100452833G>A		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.2222C>T	12.37:g.100452833G>A	ENSP00000279907:p.Pro741Leu					UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.P391L	p.P741L	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			14	2434	-			741					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.2222C>T	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.523262	0.00149	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.08807	3.06;3.05	6.02	-0.336	0.12658	.	0.787648	0.12193	N	0.490964	T	0.01940	0.0061	N	0.01705	-0.755	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.43540	-0.9385	10	0.02654	T	1	3.2458	1.3362	0.02145	0.3655:0.254:0.2576:0.1229	.	741	A0JNW5	UH1BL_HUMAN	L	741;391	ENSP00000279907:P741L;ENSP00000444824:P391L	ENSP00000279907:P741L	P	-	2	0	UHRF1BP1L	98976964	0.040000	0.19996	0.019000	0.16419	0.295000	0.27426	1.585000	0.36600	-0.066000	0.12998	-0.312000	0.09012	CCG		0.403	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		43	133	0	0	0	1	0	43	133				
LRRC14	9684	broad.mit.edu	37	8	145746372	145746372	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr8:145746372G>A	ENST00000292524.1	+	4	1138	c.992G>A	c.(991-993)cGg>cAg	p.R331Q	LRRC14_ENST00000529022.1_Missense_Mutation_p.R331Q	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	331										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TTCCTGGCACGGAGCCCACAT	0.622																																						ENST00000292524.1																			0				endometrium(1)|lung(3)|prostate(1)	5						c.(991-993)cGg>cAg		leucine rich repeat containing 14							109.0	114.0	112.0					8																	145746372		2203	4300	6503	SO:0001583	missense	9684							g.chr8:145746372G>A	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.992G>A	8.37:g.145746372G>A	ENSP00000292524:p.Arg331Gln					LRRC14_ENST00000529022.1_Missense_Mutation_p.R331Q	p.R331Q	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		4	1138	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		331					A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.992G>A	CCDS6432.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.317771	0.00235	.	.	ENSG00000160959	ENST00000529022;ENST00000292524	T;T	0.39997	1.05;1.05	4.26	-3.8	0.04307	.	0.438834	0.25372	N	0.031158	T	0.07548	0.0190	N	0.00165	-1.945	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33777	-0.9855	10	0.02654	T	1	.	12.2274	0.54468	0.6757:0.0:0.3243:0.0	.	331	Q15048	LRC14_HUMAN	Q	331	ENSP00000434768:R331Q;ENSP00000292524:R331Q	ENSP00000292524:R331Q	R	+	2	0	LRRC14	145717180	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.066000	0.14489	-1.065000	0.03168	-1.583000	0.00853	CGG		0.622	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		88	227	0	0	0	1	0	88	227				
WEE2	494551	broad.mit.edu	37	7	141427199	141427199	+	Silent	SNP	C	C	G			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr7:141427199C>G	ENST00000397541.2	+	10	1894	c.1488C>G	c.(1486-1488)ctC>ctG	p.L496L	WEE2-AS1_ENST00000462383.1_RNA|RNU1-82P_ENST00000390851.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000459753.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	496					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CAGAAGAGCTCCAACAGCAGC	0.468																																						ENST00000397541.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(1486-1488)ctC>ctG		WEE1 homolog 2 (S. pombe)							118.0	118.0	118.0					7																	141427199		1862	4095	5957	SO:0001819	synonymous_variant	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141427199C>G	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.1488C>G	7.37:g.141427199C>G						WEE2-AS1_ENST00000488785.1_RNA	p.L496L	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN			10	1894	+	Melanoma(164;0.0171)		496						Silent	SNP	ENST00000397541.2	37	c.1488C>G	CCDS43660.1																																																																																				0.468	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		79	157	0	0	0	1	0	79	157				
UBASH3A	53347	broad.mit.edu	37	21	43857620	43857620	+	Silent	SNP	T	T	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr21:43857620T>C	ENST00000319294.6	+	11	1447	c.1416T>C	c.(1414-1416)ggT>ggC	p.G472G	UBASH3A_ENST00000291535.6_Silent_p.G434G|UBASH3A_ENST00000398367.1_Silent_p.G434G	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	472	Phosphatase-like.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TGGACAGTGGTATCAGAATCA	0.537																																						ENST00000319294.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						c.(1414-1416)ggT>ggC		ubiquitin associated and SH3 domain containing A							123.0	114.0	117.0					21																	43857620		2203	4300	6503	SO:0001819	synonymous_variant	53347					cytosol|nucleus		g.chr21:43857620T>C	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1416T>C	21.37:g.43857620T>C						UBASH3A_ENST00000398367.1_Silent_p.G434G|UBASH3A_ENST00000291535.6_Silent_p.G434G	p.G472G	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN			11	1447	+			472			Phosphatase-like.		G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Silent	SNP	ENST00000319294.6	37	c.1416T>C	CCDS13687.1																																																																																				0.537	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		17	61	0	0	0	1	0	17	61				
TRMT10C	54931	broad.mit.edu	37	3	101284667	101284667	+	Missense_Mutation	SNP	A	A	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr3:101284667A>T	ENST00000309922.6	+	2	1196	c.1042A>T	c.(1042-1044)Aac>Tac	p.N348Y		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	348	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				mitochondrial RNA 5'-end processing (GO:0000964)|tRNA processing (GO:0008033)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										GGAAATTGGTAACAAAAATCT	0.393																																						ENST00000309922.6																			0											c.(1042-1044)Aac>Tac		tRNA methyltransferase 10 homolog C (S. cerevisiae)							48.0	48.0	48.0					3																	101284667		1829	4074	5903	SO:0001583	missense	54931							g.chr3:101284667A>T	AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173			26022	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 1"""	615423	"""RNA (guanine-9-) methyltransferase domain containing 1"""	RG9MTD1		18984158	Standard	NM_017819		Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.1042A>T	3.37:g.101284667A>T	ENSP00000312356:p.Asn348Tyr						p.N348Y	NM_017819.2	NP_060289.2					2	1196	+								Q9NRG5|Q9NX54|Q9Y596	Missense_Mutation	SNP	ENST00000309922.6	37	c.1042A>T	CCDS43122.1	.	.	.	.	.	.	.	.	.	.	A	10.83	1.461568	0.26248	.	.	ENSG00000174173	ENST00000309922	T	0.22945	1.93	6.04	2.31	0.28768	.	0.608074	0.17902	N	0.158145	T	0.20414	0.0491	L	0.43152	1.355	0.29077	N	0.882909	P	0.39071	0.658	B	0.41691	0.364	T	0.18209	-1.0344	10	0.72032	D	0.01	-16.5996	2.2825	0.04118	0.4127:0.0:0.1811:0.4062	.	348	Q7L0Y3	MRRP1_HUMAN	Y	348	ENSP00000312356:N348Y	ENSP00000312356:N348Y	N	+	1	0	RG9MTD1	102767357	0.989000	0.36119	0.617000	0.29091	0.048000	0.14542	4.860000	0.62961	0.476000	0.27440	-0.490000	0.04691	AAC		0.393	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353400.2	NM_017819		23	76	0	0	0	1	0	23	76				
ATP6V0A1	535	broad.mit.edu	37	17	40618496	40618496	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr17:40618496G>A	ENST00000343619.4	+	3	290	c.167G>A	c.(166-168)aGa>aAa	p.R56K	ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.R56K|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.R56K|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.R56K|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.R56K|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.R56K	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	56					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		AATGAAGTTAGAAGATGTGAA	0.308																																						ENST00000343619.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(166-168)aGa>aAa		ATPase, H+ transporting, lysosomal V0 subunit a1							202.0	198.0	199.0					17																	40618496		2203	4300	6503	SO:0001583	missense	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40618496G>A	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.167G>A	17.37:g.40618496G>A	ENSP00000342951:p.Arg56Lys					ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.R56K|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.R56K|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.R56K|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.R56K|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.R56K	p.R56K	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	3	290	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	56					B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	c.167G>A	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594943	0.86953	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728	D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15	5.8	3.79	0.43588	.	0.045870	0.85682	N	0.000000	D	0.89079	0.6613	L	0.41124	1.26	0.80722	D	1	D;D;P;D;P;D	0.89917	0.996;0.993;0.933;0.999;0.907;1.0	D;D;P;D;P;D	0.83275	0.993;0.949;0.838;0.996;0.594;0.992	D	0.86654	0.1900	10	0.37606	T	0.19	-12.1713	10.7699	0.46316	0.0674:0.0:0.8006:0.132	.	56;56;56;56;56;56	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1;F5H569	.;.;.;VPP1_HUMAN;.;.	K	56	ENSP00000342951:R56K;ENSP00000444676:R56K;ENSP00000377415:R56K;ENSP00000264649:R56K;ENSP00000443991:R56K	ENSP00000264649:R56K	R	+	2	0	ATP6V0A1	37872022	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.452000	0.97615	0.784000	0.33661	0.561000	0.74099	AGA		0.308	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		8	103	0	0	0	1	0	8	103				
TRDJ3	28520	broad.mit.edu	37	14	22925625	22925625	+	RNA	SNP	G	G	C			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr14:22925625G>C	ENST00000390476.1	+	0	0				TRDJ4_ENST00000390474.1_RNA|TRDJ2_ENST00000390475.1_RNA|AE000661.37_ENST00000514473.2_RNA					T cell receptor delta joining 3																		AGATGAATTAGACTGACAGGG	0.458																																						ENST00000514473.2																			0																				84.0	75.0	78.0					14																	22925625		692	1591	2283			101929735							g.chr14:22925625G>C	M21508		14q11.2	2012-02-07			ENSG00000211828	ENSG00000211828		"""T cell receptors / TRD locus"""	12259	other	T cell receptor gene						3186718	Standard	NG_001332		Approved				OTTHUMG00000170904		14.37:g.22925625G>C														0	225	-									RNA	SNP	ENST00000390476.1	37																																																																																						0.458	TRDJ3-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	TR_J_gene	TR_J_gene	OTTHUMT00000410935.1	NG_001332		11	75	0	0	0	1	0	11	75				
KLHDC8A	55220	broad.mit.edu	37	1	205307704	205307704	+	Nonsense_Mutation	SNP	G	G	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr1:205307704G>A	ENST00000367156.3	-	8	1594	c.778C>T	c.(778-780)Cga>Tga	p.R260*	KLHDC8A_ENST00000537168.1_Nonsense_Mutation_p.R147*|KLHDC8A_ENST00000367155.3_Nonsense_Mutation_p.R260*|KLHDC8A_ENST00000460687.1_Nonsense_Mutation_p.R126*|KLHDC8A_ENST00000539253.1_Nonsense_Mutation_p.R260*	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	260										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AAGAACGATCGTTCCATCTTC	0.517																																						ENST00000367156.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(778-780)Cga>Tga		kelch domain containing 8A							89.0	82.0	85.0					1																	205307704		2203	4300	6503	SO:0001587	stop_gained	55220							g.chr1:205307704G>A		CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.778C>T	1.37:g.205307704G>A	ENSP00000356124:p.Arg260*					KLHDC8A_ENST00000537168.1_Nonsense_Mutation_p.R147*|KLHDC8A_ENST00000539253.1_Nonsense_Mutation_p.R260*|KLHDC8A_ENST00000460687.1_Nonsense_Mutation_p.R126*|KLHDC8A_ENST00000367155.3_Nonsense_Mutation_p.R260*	p.R260*	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		8	1594	-	Breast(84;0.23)		260					B3KU70|Q9NVG5	Nonsense_Mutation	SNP	ENST00000367156.3	37	c.778C>T	CCDS30985.1	.	.	.	.	.	.	.	.	.	.	G	38	6.698759	0.97772	.	.	ENSG00000162873	ENST00000367155;ENST00000367156;ENST00000539253;ENST00000537168	.	.	.	5.62	5.62	0.85841	.	0.216018	0.49305	D	0.000149	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-19.0544	19.2423	0.93888	0.0:0.0:1.0:0.0	.	.	.	.	X	260;260;260;147	.	ENSP00000356123:R260X	R	-	1	2	KLHDC8A	203574327	1.000000	0.71417	0.992000	0.48379	0.950000	0.60333	5.085000	0.64468	2.642000	0.89623	0.655000	0.94253	CGA		0.517	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	NM_018203		14	35	0	0	0	1	0	14	35				
DDX1	1653	broad.mit.edu	37	2	15760415	15760416	+	Frame_Shift_Ins	INS	-	-	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:15760415_15760416insT	ENST00000381341.2	+	18	1679_1680	c.1290_1291insT	c.(1291-1293)ttafs	p.L431fs	DDX1_ENST00000233084.3_Frame_Shift_Ins_p.L431fs			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	431	Necessary for interaction with RELA.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		CATGGGTTGACTTAAAAGGAGA	0.426																																						ENST00000381341.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1288-1293)gataaafs		DEAD (Asp-Glu-Ala-Asp) box helicase 1																																				SO:0001589	frameshift_variant	1653				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr2:15760415_15760416insT	X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"""DEAD-boxes"""	2734	protein-coding gene	gene with protein product		601257	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"""			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.1292dupT	2.37:g.15760417_15760417dupT	ENSP00000370745:p.Leu431fs					DDX1_ENST00000233084.3_Frame_Shift_Ins_p.K431fs	p.K431fs			Q92499	DDX1_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)	18	1679_1680	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	431			Necessary for interaction with RELA.		B4DME8|B4DPN6	Frame_Shift_Ins	INS	ENST00000381341.2	37	c.1290_1291insT	CCDS1686.1																																																																																				0.426	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939		30	88						30	88	---	---	---	---
ZFP36L2	678	broad.mit.edu	37	2	43452555	43452556	+	Frame_Shift_Ins	INS	-	-	A			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:43452555_43452556insA	ENST00000282388.3	-	2	680_681	c.387_388insT	c.(385-390)gatcgcfs	p.R130fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	130					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				TGCTGGCTGCGATCGCCGTTCT	0.658																																						ENST00000282388.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15						c.(385-390)gagcagfs		ZFP36 ring finger protein-like 2																																				SO:0001589	frameshift_variant	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452555_43452556insA	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.388dupT	2.37:g.43452556_43452556dupA	ENSP00000282388:p.Arg130fs					THADA_ENST00000330266.7_Intron	p.EQ129fs	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN			2	680_681	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	129					Q53TB4|Q9BSJ3	Frame_Shift_Ins	INS	ENST00000282388.3	37	c.387_388insT	CCDS1811.1																																																																																				0.658	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		15	22						15	22	---	---	---	---
IMMT	10989	broad.mit.edu	37	2	86371918	86371919	+	Frame_Shift_Ins	INS	-	-	T			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:86371918_86371919insT	ENST00000410111.3	-	15	2136_2137	c.1749_1750insA	c.(1747-1752)tcatctfs	p.S584fs	IMMT_ENST00000442664.2_Frame_Shift_Ins_p.S583fs|IMMT_ENST00000254636.5_Frame_Shift_Ins_p.S485fs|IMMT_ENST00000449247.2_Frame_Shift_Ins_p.S573fs|IMMT_ENST00000409051.2_Frame_Shift_Ins_p.S537fs	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	584					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTTTCTGCAGATGAGGTCTTCA	0.47																																						ENST00000410111.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1747-1752)tcctgcfs		inner membrane protein, mitochondrial																																				SO:0001589	frameshift_variant	10989					integral to mitochondrial inner membrane	protein binding	g.chr2:86371918_86371919insT	D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.1750dupA	2.37:g.86371919_86371919dupT	ENSP00000387262:p.Ser584fs					IMMT_ENST00000442664.2_Frame_Shift_Ins_p.C583fs|IMMT_ENST00000449247.2_Frame_Shift_Ins_p.C573fs|IMMT_ENST00000409051.2_Frame_Shift_Ins_p.C537fs|IMMT_ENST00000254636.5_Frame_Shift_Ins_p.C485fs	p.C584fs	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN			15	2136_2137	-			584					B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Frame_Shift_Ins	INS	ENST00000410111.3	37	c.1749_1750insA	CCDS46355.1																																																																																				0.470	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		34	31						34	31	---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103149137	103149137	+	Frame_Shift_Del	DEL	A	A	-			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr2:103149137delA	ENST00000295269.4	+	12	2844	c.2387delA	c.(2386-2388)caafs	p.Q796fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	796					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCTTTGCTCCAAAAAAAATAG	0.473																																						ENST00000295269.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2386-2388)cafs		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							43.0	37.0	39.0					2																	103149137		2203	4300	6503	SO:0001589	frameshift_variant	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103149137delA		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2387delA	2.37:g.103149137delA	ENSP00000295269:p.Gln796fs						p.Q796fs	NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN			12	2844	+			796					Q69YK0	Frame_Shift_Del	DEL	ENST00000295269.4	37	c.2387delA	CCDS33264.1																																																																																				0.473	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		8	125						8	125	---	---	---	---
LINC01165	100128830	broad.mit.edu	37	10	134331671	134331671	+	RNA	DEL	G	G	-			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr10:134331671delG	ENST00000445190.1	-	0	3246				RP11-432J24.5_ENST00000455414.1_lincRNA																							ACTGCTGCGAGGGAAGGAGCC	0.617																																						ENST00000455414.1																			0																																																			0							g.chr10:134331671delG																													10.37:g.134331671delG														0	24	-									RNA	DEL	ENST00000445190.1	37																																																																																						0.617	RP11-432J24.6-001	KNOWN	mRNA_start_NF|basic	antisense	antisense	OTTHUMT00000051081.1			2	4						2	4	---	---	---	---
RB1	5925	broad.mit.edu	37	13	48941665	48941681	+	Frame_Shift_Del	DEL	TCTTAAAAATAAAGATC	TCTTAAAAATAAAGATC	-			TCGA-T2-A6WZ-01A-21D-A34J-08	TCGA-T2-A6WZ-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fd5ba3-4182-45ca-a150-6ce4a0727258	70ebcdff-c2df-4736-8635-72e563c2bf6f	g.chr13:48941665_48941681delTCTTAAAAATAAAGATC	ENST00000267163.4	+	10	1113_1129	c.975_991delTCTTAAAAATAAAGATC	c.(973-993)tatcttaaaaataaagatctafs	p.LKNKDL326fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	326					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(7)|p.Y325*(2)|p.N328H(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AAGAAATTTATCTTAAAAATAAAGATCTAGATGCAAG	0.304		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		25	Whole gene deletion(15)|Unknown(7)|Substitution - Nonsense(2)|Substitution - Missense(1)	p.0?(15)|p.?(7)|p.Y325*(2)|p.N328H(1)	bone(11)|breast(5)|eye(3)|adrenal_gland(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|urinary_tract(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CD040319|CD984659	RB1	D		c.(973-993)tatafs		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48941665_48941681delTCTTAAAAATAAAGATC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.975_991delTCTTAAAAATAAAGATC	13.37:g.48941665_48941681delTCTTAAAAATAAAGATC	ENSP00000267163:p.Leu326fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.YLKNKDL325fs	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	10	1113_1129	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	325					A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	c.975_991delTCTTAAAAATAAAGATC	CCDS31973.1																																																																																				0.304	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			36	106						36	106	---	---	---	---
