#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_filter	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PODN	127435	broad.mit.edu	37	1	53544621	53544621	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr1:53544621T>A	ENST00000312553.5	+	8	1590	c.1583T>A	c.(1582-1584)cTg>cAg	p.L528Q	PODN_ENST00000371500.3_Missense_Mutation_p.L509Q|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Missense_Mutation_p.L386Q	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	480					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)	p.L528Q(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTGCGTGAGCTGTACCTCACC	0.667																																						uc001cuv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1582-1584)CTG>CAG		podocan							12.0	10.0	11.0					1																	53544621		2186	4276	6462	SO:0001583	missense	127435				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	g.chr1:53544621T>A	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.1583T>A	1.37:g.53544621T>A	ENSP00000308315:p.Leu528Gln					PODN_uc001cuw.2_Missense_Mutation_p.L509Q|PODN_uc010onr.1_Missense_Mutation_p.L509Q|PODN_uc010ons.1_Missense_Mutation_p.L386Q	p.L528Q	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN			8	1590	+			480			LRR 16.		B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	c.1583T>A	CCDS573.1	.	.	.	.	.	.	.	.	.	.	T	19.48	3.836051	0.71373	.	.	ENSG00000174348	ENST00000371500;ENST00000395871;ENST00000312553	T;T;T	0.59083	2.05;0.29;2.05	4.82	4.82	0.62117	.	0.061993	0.64402	D	0.000003	D	0.83478	0.5263	H	0.97077	3.935	0.48696	D	0.99969	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.89211	0.3564	10	0.87932	D	0	.	14.5373	0.67969	0.0:0.0:0.0:1.0	.	386;509;528	Q7Z5L7-4;Q7Z5L7-2;Q7Z5L7-3	.;.;.	Q	509;386;528	ENSP00000360555:L509Q;ENSP00000379212:L386Q;ENSP00000308315:L528Q	ENSP00000308315:L528Q	L	+	2	0	PODN	53317209	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.855000	0.86950	2.020000	0.59435	0.459000	0.35465	CTG		PASS	0.667	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		6	5	6	5	---	---	---	---
LRRC42	115353	broad.mit.edu	37	1	54428065	54428065	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr1:54428065G>C	ENST00000371370.3	+	7	1431	c.910G>C	c.(910-912)Gag>Cag	p.E304Q	LRRC42_ENST00000477905.1_3'UTR|LRRC42_ENST00000319223.4_Missense_Mutation_p.E304Q	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	304								p.E304Q(1)		breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						CTGCAAGACAGAGGGCTGGGC	0.443																																						uc001cwj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(910-912)GAG>CAG		leucine rich repeat containing 42							95.0	94.0	95.0					1																	54428065		2203	4300	6503	SO:0001583	missense	115353							g.chr1:54428065G>C	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.910G>C	1.37:g.54428065G>C	ENSP00000360421:p.Glu304Gln					LRRC42_uc001cwl.1_Missense_Mutation_p.E304Q|LRRC42_uc001cwk.1_Missense_Mutation_p.E304Q|LRRC42_uc009vzm.1_Missense_Mutation_p.E304Q	p.E304Q	NM_052940	NP_443172	Q9Y546	LRC42_HUMAN			6	1110	+			304					D3DQ46|Q8N2Q8	Missense_Mutation	SNP	ENST00000371370.3	37	c.910G>C	CCDS585.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303841	0.40795	.	.	ENSG00000116212	ENST00000371370;ENST00000319223	.	.	.	6.08	6.08	0.98989	.	0.144593	0.64402	D	0.000009	T	0.27169	0.0666	N	0.11201	0.11	0.46478	D	0.999062	P	0.48503	0.911	B	0.36186	0.219	T	0.08911	-1.0699	9	0.24483	T	0.36	-28.0489	16.0688	0.80909	0.0:0.1332:0.8668:0.0	.	304	Q9Y546	LRC42_HUMAN	Q	304	.	ENSP00000318185:E304Q	E	+	1	0	LRRC42	54200653	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	6.693000	0.74582	2.894000	0.99253	0.655000	0.94253	GAG		PASS	0.443	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	NM_052940		11	37	11	37	---	---	---	---
DAB1	1600	broad.mit.edu	37	1	57610988	57610988	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr1:57610988C>A	ENST00000371231.1	-	2	216	c.182G>T	c.(181-183)tGt>tTt	p.C61F	DAB1_ENST00000371234.4_Missense_Mutation_p.C61F|DAB1_ENST00000439789.2_Missense_Mutation_p.C61F|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000414851.2_Missense_Mutation_p.C61F|DAB1_ENST00000420954.2_Missense_Mutation_p.C61F|DAB1_ENST00000371230.1_Missense_Mutation_p.C61F|DAB1_ENST00000371236.2_Missense_Mutation_p.C61F			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	61	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)		p.C61F(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGAATCTTGACATAACTTGTC	0.393																																						uc001cys.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(181-183)TGT>TTT		disabled homolog 1							149.0	130.0	137.0					1																	57610988		2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57610988C>A	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.182G>T	1.37:g.57610988C>A	ENSP00000360275:p.Cys61Phe					DAB1_uc001cyt.1_Missense_Mutation_p.C61F|DAB1_uc001cyq.1_Missense_Mutation_p.C61F|DAB1_uc001cyr.1_Missense_Mutation_p.C61F|DAB1_uc009vzw.1_Missense_Mutation_p.C61F|DAB1_uc009vzx.1_Missense_Mutation_p.C61F	p.C61F	NM_021080	NP_066566	O75553	DAB1_HUMAN			5	856	-			61			PID.		A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.182G>T		.	.	.	.	.	.	.	.	.	.	C	28.2	4.901348	0.92035	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231;ENST00000371232;ENST00000332102;ENST00000371230	T;T;T;T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;2.52;-0.07;2.52;-0.07;-0.07	5.49	5.49	0.81192	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.80363	0.4609	M	0.76170	2.325	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.977;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.962;1.0	T	0.82145	-0.0602	10	0.87932	D	0	-29.0633	19.3804	0.94530	0.0:1.0:0.0:0.0	.	61;61;61;61;61	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	F	61	ENSP00000360280:C61F;ENSP00000360278:C61F;ENSP00000395296:C61F;ENSP00000387581:C61F;ENSP00000409328:C61F;ENSP00000360275:C61F;ENSP00000360276:C61F;ENSP00000329120:C61F;ENSP00000360274:C61F	ENSP00000329120:C61F	C	-	2	0	DAB1	57383576	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.814000	0.86154	2.571000	0.86741	0.655000	0.94253	TGT		PASS	0.393	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		84	50	84	50	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70257828	70257828	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr1:70257828G>C	ENST00000035383.5	+	2	322	c.292G>C	c.(292-294)Gac>Cac	p.D98H	LRRC7_ENST00000370958.1_Missense_Mutation_p.D136H|LRRC7_ENST00000310961.5_Missense_Mutation_p.D103H|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	98						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.D98H(1)|p.D136H(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TAAAGAACTCGACATCAGTAA	0.299																																						uc001dep.2																			2	Substitution - Missense(2)		lung(2)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(292-294)GAC>CAC		leucine rich repeat containing 7							77.0	85.0	82.0					1																	70257828		2202	4295	6497	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70257828G>C		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.292G>C	1.37:g.70257828G>C	ENSP00000035383:p.Asp98His					LRRC7_uc001deo.1_Missense_Mutation_p.D136H|LRRC7_uc009wbg.2_5'UTR	p.D98H	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			2	322	+			98			LRR 4.		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.292G>C	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100170	0.76983	.	.	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	T;T;T	0.29655	1.56;2.76;1.6	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.47801	0.1465	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.38845	-0.9642	10	0.51188	T	0.08	.	17.2927	0.87162	0.0:0.0:1.0:0.0	.	98;136	Q96NW7;B1AKT2	LRRC7_HUMAN;.	H	103;136;98;98	ENSP00000309245:D103H;ENSP00000359997:D136H;ENSP00000035383:D98H	ENSP00000035383:D98H	D	+	1	0	LRRC7	70030416	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.136000	0.94489	2.683000	0.91414	0.561000	0.74099	GAC		PASS	0.299	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		78	70	78	70	---	---	---	---
HHLA3	11147	broad.mit.edu	37	1	70820859	70820859	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr1:70820859G>A	ENST00000359875.5	+	1	365	c.225G>A	c.(223-225)atG>atA	p.M75I	ANKRD13C_ENST00000370944.4_5'Flank|HHLA3_ENST00000370940.5_Intron|HHLA3_ENST00000361764.4_Intron|HHLA3_ENST00000486110.1_3'UTR|ANKRD13C_ENST00000262346.6_5'Flank|HHLA3_ENST00000432224.1_Missense_Mutation_p.M75I|HHLA3_ENST00000531950.1_Missense_Mutation_p.M75I	NM_001036645.1	NP_001031722.1	Q9XRX5	HHLA3_HUMAN	HERV-H LTR-associating 3	75								p.M75I(1)		large_intestine(3)|lung(1)	4						gaagaggaatgaaggccaaac	0.453																																						uc001dfa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(223-225)ATG>ATA		HERV-H LTR-associating 3 isoform 2							51.0	49.0	50.0					1																	70820859		2203	4300	6503	SO:0001583	missense	11147						protein binding	g.chr1:70820859G>A	AF126164	CCDS649.1, CCDS30752.1, CCDS30753.1	1p31.1	2008-02-05			ENSG00000197568	ENSG00000197568			4906	protein-coding gene	gene with protein product		604372				10444326	Standard	NR_027404		Approved		uc001dfa.3	Q9XRX5	OTTHUMG00000009346	ENST00000359875.5:c.225G>A	1.37:g.70820859G>A	ENSP00000352938:p.Met75Ile					ANKRD13C_uc001dex.3_5'Flank|ANKRD13C_uc009wbk.2_5'Flank|ANKRD13C_uc001dey.3_5'Flank|HHLA3_uc010oqp.1_Intron|HHLA3_uc001dfb.2_Intron|HHLA3_uc001dfc.2_Intron	p.M75I	NM_001036645	NP_001031722	Q9XRX5	HHLA3_HUMAN			1	367	+			75					D3DQ74|Q5VZP2|Q96FH5|Q9XRX4	Missense_Mutation	SNP	ENST00000359875.5	37	c.225G>A	CCDS30753.1	.	.	.	.	.	.	.	.	.	.	G	8.250	0.808716	0.16467	.	.	ENSG00000197568	ENST00000359875;ENST00000531950;ENST00000432224	.	.	.	3.81	-5.22	0.02806	.	.	.	.	.	T	0.05364	0.0142	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.41502	-0.9505	8	0.87932	D	0	.	5.9478	0.19229	0.421:0.4024:0.1766:0.0	.	75	Q9XRX5	HHLA3_HUMAN	I	75	.	ENSP00000352938:M75I	M	+	3	0	HHLA3	70593447	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.050000	0.11904	-1.198000	0.02669	0.650000	0.86243	ATG		PASS	0.453	HHLA3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025911.2	NM_007071		9	15	9	15	---	---	---	---
LRRIQ3	127255	broad.mit.edu	37	1	74649223	74649223	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr1:74649223C>A	ENST00000395089.1	-	1	145	c.146G>T	c.(145-147)tGc>tTc	p.C49F	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.C49F|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.C49F|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.C49F			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	49								p.C49F(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						aagagagatgcaagactgcaa	0.303																																						uc001dfy.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(145-147)TGC>TTC		leucine-rich repeats and IQ motif containing 3							56.0	58.0	58.0					1																	74649223		2202	4297	6499	SO:0001583	missense	127255							g.chr1:74649223C>A	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.146G>T	1.37:g.74649223C>A	ENSP00000378524:p.Cys49Phe					LRRIQ3_uc001dfz.3_RNA	p.C49F	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			2	338	-			49					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.146G>T	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650508	0.29336	.	.	ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000370909;ENST00000388972;ENST00000370911	T;T;T;T	0.34275	1.96;1.96;1.37;1.96	5.06	4.12	0.48240	.	0.089098	0.47455	D	0.000223	T	0.13372	0.0324	L	0.27053	0.805	0.36348	D	0.859913	P	0.34546	0.456	B	0.26864	0.074	T	0.12915	-1.0529	10	0.66056	D	0.02	.	13.3722	0.60719	0.0:0.9166:0.0:0.0834	.	49	A6PVS8	LRIQ3_HUMAN	F	49	ENSP00000378524:C49F;ENSP00000346414:C49F;ENSP00000359946:C49F;ENSP00000359948:C49F	ENSP00000346414:C49F	C	-	2	0	LRRIQ3	74421811	0.968000	0.33430	0.998000	0.56505	0.585000	0.36419	0.578000	0.23773	2.490000	0.84030	0.655000	0.94253	TGC		PASS	0.303	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		57	40	57	40	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144863397	144863397	+	Silent	SNP	T	T	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr1:144863397T>C	ENST00000369354.3	-	37	6195	c.6006A>G	c.(6004-6006)aaA>aaG	p.K2002K	PDE4DIP_ENST00000530740.1_Silent_p.K2087K|PDE4DIP_ENST00000369356.4_Silent_p.K2002K|PDE4DIP_ENST00000313382.9_Silent_p.K1896K|PDE4DIP_ENST00000369359.4_Silent_p.K2138K|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2002					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.K2002K(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGAGCTGCTGTTTCTCTTCAC	0.527			T	PDGFRB	MPD																																	uc001elw.3				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - coding silent(2)		lung(2)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(6004-6006)AAA>AAG		phosphodiesterase 4D interacting protein isoform							193.0	184.0	187.0					1																	144863397		2203	4300	6503	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144863397T>C	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6006A>G	1.37:g.144863397T>C						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.K1896K|PDE4DIP_uc001elv.3_Silent_p.K1009K|PDE4DIP_uc001ema.2_3'UTR	p.K2002K	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	37	6297	-			2002			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.6006A>G	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	T	10.31	1.315781	0.23908	.	.	ENSG00000178104	ENST00000530130	.	.	.	4.31	-1.01	0.10169	.	.	.	.	.	T	0.27765	0.0683	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21999	-1.0229	4	.	.	.	.	4.4655	0.11687	0.0:0.3089:0.2709:0.4202	.	.	.	.	S	159	.	.	N	-	2	0	PDE4DIP	143574754	0.998000	0.40836	0.999000	0.59377	0.982000	0.71751	0.137000	0.15995	0.018000	0.15052	-0.425000	0.05940	AAC		PASS	0.527	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		81	288	81	288	---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152191550	152191550	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr1:152191550G>A	ENST00000368801.2	-	3	2630	c.2555C>T	c.(2554-2556)tCa>tTa	p.S852L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	852					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S852L(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGGAGCTTGATGACTGCCC	0.572																																						uc001ezt.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2554-2556)TCA>TTA		hornerin							141.0	142.0	142.0					1																	152191550		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191550G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2555C>T	1.37:g.152191550G>A	ENSP00000357791:p.Ser852Leu						p.S852L	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2631	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		852			9.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.2555C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	9.261	1.043254	0.19748	.	.	ENSG00000197915	ENST00000368801	T	0.16743	2.32	3.58	3.58	0.41010	.	.	.	.	.	T	0.14356	0.0347	L	0.53249	1.67	0.09310	N	1	D	0.58268	0.982	P	0.52598	0.703	T	0.03231	-1.1058	9	0.52906	T	0.07	.	10.5905	0.45306	0.0:0.0:1.0:0.0	.	852	Q86YZ3	HORN_HUMAN	L	852	ENSP00000357791:S852L	ENSP00000357791:S852L	S	-	2	0	HRNR	150458174	0.005000	0.15991	0.002000	0.10522	0.008000	0.06430	1.529000	0.35996	1.828000	0.53243	0.456000	0.33151	TCA		PASS	0.572	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		21	71	21	71	---	---	---	---
BCAN	63827	broad.mit.edu	37	1	156618424	156618424	+	Silent	SNP	G	G	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr1:156618424G>A	ENST00000329117.5	+	6	1170	c.834G>A	c.(832-834)caG>caA	p.Q278Q	BCAN_ENST00000361588.5_Silent_p.Q278Q|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	278	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.Q278Q(2)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGTACTGCCAGGAGCGGGGTG	0.617																																						uc001fpp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(832-834)CAG>CAA		brevican isoform 1							85.0	81.0	82.0					1																	156618424		2203	4300	6503	SO:0001819	synonymous_variant	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156618424G>A	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.834G>A	1.37:g.156618424G>A						BCAN_uc001fpo.2_Silent_p.Q278Q	p.Q278Q	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			6	1170	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		278			Link 2.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Silent	SNP	ENST00000329117.5	37	c.834G>A	CCDS1149.1																																																																																				PASS	0.617	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		46	173	46	173	---	---	---	---
VANGL2	57216	broad.mit.edu	37	1	160389286	160389286	+	Silent	SNP	G	G	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr1:160389286G>A	ENST00000368061.2	+	4	1161	c.687G>A	c.(685-687)gtG>gtA	p.V229V	VANGL2_ENST00000483408.1_3'UTR	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	229					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)		p.V229V(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTCTTTTCGTGCACTACCTGG	0.647																																						uc001fwb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(685-687)GTG>GTA		vang-like 2							82.0	82.0	82.0					1																	160389286		2203	4300	6503	SO:0001819	synonymous_variant	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160389286G>A	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.687G>A	1.37:g.160389286G>A						VANGL2_uc001fwc.1_Silent_p.V229V	p.V229V	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		5	986	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		229			Helical; Name=4; (Potential).		D3DVE9|Q5T212	Silent	SNP	ENST00000368061.2	37	c.687G>A	CCDS30915.1																																																																																				PASS	0.647	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		24	97	24	97	---	---	---	---
HSPA6	3310	broad.mit.edu	37	1	161495444	161495444	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr1:161495444G>C	ENST00000309758.4	+	1	1409	c.996G>C	c.(994-996)caG>caC	p.Q332H	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	332					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)	p.Q332H(1)		endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ACAAGGCCCAGATTCATGACG	0.602																																						uc001gap.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(994-996)CAG>CAC		heat shock 70kDa protein 6 (HSP70B')							39.0	41.0	41.0					1																	161495444		2203	4300	6503	SO:0001583	missense	3310				response to unfolded protein		ATP binding	g.chr1:161495444G>C		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.996G>C	1.37:g.161495444G>C	ENSP00000310219:p.Gln332His					HSPA6_uc001gaq.2_Missense_Mutation_p.Q332H	p.Q332H	NM_002155	NP_002146	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		2	1656	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		332					Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	ENST00000309758.4	37	c.996G>C	CCDS1231.1	.	.	.	.	.	.	.	.	.	.	.	10.40	1.338827	0.24253	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.01051	5.4	3.23	0.885	0.19188	.	0.686281	0.11937	N	0.515108	T	0.01156	0.0038	H	0.94734	3.575	0.35264	D	0.779839	B	0.02656	0.0	B	0.04013	0.001	T	0.04976	-1.0914	10	0.72032	D	0.01	.	4.1689	0.10320	0.1834:0.2287:0.5878:0.0	.	332	P17066	HSP76_HUMAN	H	332;308	ENSP00000310219:Q332H	ENSP00000310219:Q332H	Q	+	3	2	HSPA6	159762068	1.000000	0.71417	0.996000	0.52242	0.949000	0.60115	1.126000	0.31344	-0.063000	0.13065	0.543000	0.68304	CAG		PASS	0.602	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155		6	50	6	50	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190067570	190067570	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr1:190067570T>A	ENST00000367462.3	-	8	2110	c.1879A>T	c.(1879-1881)Atc>Ttc	p.I627F	BRINP3_ENST00000534846.1_Missense_Mutation_p.I525F	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	627					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.I627F(1)									CTCAGGTAGATGTGTACTGTC	0.463																																						uc001gse.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1879-1881)ATC>TTC		family with sequence similarity 5, member C							229.0	239.0	236.0					1																	190067570		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190067570T>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1879A>T	1.37:g.190067570T>A	ENSP00000356432:p.Ile627Phe					FAM5C_uc010pot.1_Missense_Mutation_p.I525F	p.I627F	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	2111	-	Prostate(682;0.198)		627					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1879A>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	T	12.52	1.962750	0.34659	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.21361	2.28;2.01	5.64	5.64	0.86602	.	0.053908	0.64402	D	0.000001	T	0.19927	0.0479	N	0.22421	0.69	0.58432	D	0.999996	P;P	0.52061	0.95;0.845	P;B	0.46718	0.525;0.326	T	0.01424	-1.1358	10	0.48119	T	0.1	.	13.7996	0.63192	0.0:0.0:0.0:1.0	.	525;627	B7Z260;Q76B58	.;FAM5C_HUMAN	F	627;525	ENSP00000356432:I627F;ENSP00000438022:I525F	ENSP00000356432:I627F	I	-	1	0	FAM5C	188334193	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	2.713000	0.47194	2.146000	0.66826	0.528000	0.53228	ATC		PASS	0.463	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		125	414	125	414	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201030449	201030449	+	Silent	SNP	G	G	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr1:201030449G>C	ENST00000362061.3	-	25	3427	c.3201C>G	c.(3199-3201)acC>acG	p.T1067T	CACNA1S_ENST00000367338.3_Silent_p.T1067T	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1067	Dihydropyridine binding. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.T1067T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCTCCTGGAAGGTGACAATGA	0.527																																						uc001gvv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3199-3201)ACC>ACG		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						174.0	139.0	151.0					1																	201030449		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201030449G>C	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3201C>G	1.37:g.201030449G>C							p.T1067T	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			25	3428	-			1067			Cytoplasmic (Potential).|Dihydropyridine binding (By similarity).|III.		A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.3201C>G	CCDS1407.1																																																																																				PASS	0.527	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		22	81	22	81	---	---	---	---
ZC3H11A	9877	broad.mit.edu	37	1	203816789	203816789	+	Missense_Mutation	SNP	G	G	C	rs142558234		TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr1:203816789G>C	ENST00000545588.1	+	12	5347	c.1520G>C	c.(1519-1521)cGg>cCg	p.R507P	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.R507P|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.R507P|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.R507P|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.R507P	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	507					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R507P(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGGGCAAGGCGGCTGCTGCGA	0.537																																						uc001hac.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(1519-1521)CGG>CCG		zinc finger CCCH-type containing 11A							49.0	56.0	54.0					1																	203816789		2175	4211	6386	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203816789G>C		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1520G>C	1.37:g.203816789G>C	ENSP00000438527:p.Arg507Pro					ZC3H11A_uc001had.2_Missense_Mutation_p.R507P|ZC3H11A_uc001hae.2_Missense_Mutation_p.R507P|ZC3H11A_uc001haf.2_Missense_Mutation_p.R507P|ZC3H11A_uc010pqm.1_Missense_Mutation_p.R453P|ZC3H11A_uc001hag.1_Missense_Mutation_p.R507P	p.R507P	NM_014827	NP_055642	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		15	2136	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		507					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.1520G>C	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759392	0.89932	.	.	ENSG00000058673	ENST00000453771;ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	5.66	5.66	0.87406	.	0.201439	0.38272	N	0.001757	T	0.71221	0.3314	M	0.77103	2.36	0.44469	D	0.9974	D	0.53151	0.958	P	0.60236	0.871	T	0.69826	-0.5040	10	0.38643	T	0.18	-10.8498	18.5155	0.90934	0.0:0.0:1.0:0.0	.	507	O75152	ZC11A_HUMAN	P	507;507;453;507;507;507;507	ENSP00000356183:R507P;ENSP00000356181:R507P;ENSP00000333253:R507P;ENSP00000438527:R507P;ENSP00000356179:R507P	ENSP00000333253:R507P	R	+	2	0	ZC3H11A	202083412	1.000000	0.71417	0.993000	0.49108	0.945000	0.59286	3.446000	0.52928	2.662000	0.90505	0.650000	0.86243	CGG		PASS	0.537	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		24	137	24	137	---	---	---	---
PIK3C2B	5287	broad.mit.edu	37	1	204438582	204438582	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr1:204438582G>C	ENST00000367187.3	-	3	905	c.349C>G	c.(349-351)Ccc>Gcc	p.P117A	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.P117A	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	117	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.P117A(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TTGGGCCAGGGATCTGAGCCA	0.572																																						uc001haw.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7						c.(349-351)CCC>GCC		phosphoinositide-3-kinase, class 2 beta							86.0	82.0	83.0					1																	204438582		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204438582G>C	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.349C>G	1.37:g.204438582G>C	ENSP00000356155:p.Pro117Ala					PIK3C2B_uc010pqv.1_Missense_Mutation_p.P117A|PIK3C2B_uc001hax.1_Missense_Mutation_p.P117A|PIK3C2B_uc009xbd.1_RNA	p.P117A	NM_002646	NP_002637	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		3	828	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		117			Interaction with GRB2.		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.349C>G	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139797	0.56936	.	.	ENSG00000133056	ENST00000367187;ENST00000424712;ENST00000415899	T;T	0.61627	0.16;0.09	5.14	5.14	0.70334	.	1.955440	0.02119	N	0.055501	T	0.52789	0.1756	L	0.27053	0.805	0.31037	N	0.716792	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.39542	-0.9609	10	0.62326	D	0.03	.	13.3331	0.60500	0.0:0.1584:0.8416:0.0	.	117;117	F5GWN5;O00750	.;P3C2B_HUMAN	A	117	ENSP00000356155:P117A;ENSP00000400561:P117A	ENSP00000356155:P117A	P	-	1	0	PIK3C2B	202705205	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.657000	0.54474	2.384000	0.81235	0.462000	0.41574	CCC		PASS	0.572	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		48	58	48	58	---	---	---	---
NUCKS1	64710	broad.mit.edu	37	1	205687487	205687487	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr1:205687487T>C	ENST00000367142.4	-	7	955	c.653A>G	c.(652-654)aAg>aGg	p.K218R	NUCKS1_ENST00000464938.1_5'Flank	NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent kinase substrate 1	218						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K218R(1)		endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGATGTTTTCTTTTCTGGCGG	0.517																																						uc001hdb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(652-654)AAG>AGG		nuclear casein kinase and cyclin-dependent							129.0	149.0	142.0					1																	205687487		2203	4300	6503	SO:0001583	missense	64710					nucleus		g.chr1:205687487T>C		CCDS30987.1	1q32.1	2008-02-05			ENSG00000069275	ENSG00000069275			29923	protein-coding gene	gene with protein product		611912				11298763	Standard	NM_022731		Approved	NUCKS	uc001hdb.3	Q9H1E3	OTTHUMG00000035996	ENST00000367142.4:c.653A>G	1.37:g.205687487T>C	ENSP00000356110:p.Lys218Arg						p.K218R	NM_022731	NP_073568	Q9H1E3	NUCKS_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		7	913	-	Breast(84;0.07)		218					Q54AC0|Q5PXE7|Q9H1D6|Q9H723	Missense_Mutation	SNP	ENST00000367142.4	37	c.653A>G	CCDS30987.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.956652	0.73902	.	.	ENSG00000069275	ENST00000367142	T	0.23147	1.92	5.17	5.17	0.71159	.	0.052749	0.85682	D	0.000000	T	0.20333	0.0489	L	0.36672	1.1	0.53688	D	0.999975	P	0.40731	0.728	B	0.32980	0.156	T	0.03608	-1.1020	10	0.59425	D	0.04	-7.6928	14.9417	0.70997	0.0:0.0:0.0:1.0	.	218	Q9H1E3	NUCKS_HUMAN	R	218	ENSP00000356110:K218R	ENSP00000356110:K218R	K	-	2	0	NUCKS1	203954110	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	5.314000	0.65804	2.066000	0.61787	0.460000	0.39030	AAG		PASS	0.517	NUCKS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087729.1	NM_022731		236	316	236	316	---	---	---	---
CENPF	1063	broad.mit.edu	37	1	214826228	214826228	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr1:214826228A>T	ENST00000366955.3	+	16	8386	c.8218A>T	c.(8218-8220)Agt>Tgt	p.S2740C	CENPF_ENST00000467765.1_3'UTR	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2836	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.S2740C(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGAATGTCTCAGTTCACAGAA	0.333																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.(8218-8220)AGT>TGT		centromere protein F							86.0	89.0	88.0					1																	214826228		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214826228A>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.8218A>T	1.37:g.214826228A>T	ENSP00000355922:p.Ser2740Cys						p.S2740C	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	16	8392	+			2836			Potential.|Sufficient for self-association.|Sufficient for centromere localization.		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.8218A>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	8.327	0.825641	0.16749	.	.	ENSG00000117724	ENST00000366955;ENST00000391896	T	0.03831	3.79	3.65	-0.226	0.13106	.	.	.	.	.	T	0.05777	0.0151	L	0.54323	1.7	0.09310	N	1	D	0.58620	0.983	B	0.43783	0.431	T	0.30679	-0.9970	9	0.56958	D	0.05	.	4.5223	0.11964	0.6463:0.166:0.1877:0.0	.	2836	P49454	CENPF_HUMAN	C	2740;139	ENSP00000355922:S2740C	ENSP00000355922:S2740C	S	+	1	0	CENPF	212892851	0.038000	0.19896	0.001000	0.08648	0.440000	0.31957	1.005000	0.29834	-0.390000	0.07774	0.418000	0.28097	AGT		PASS	0.333	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		133	148	133	148	---	---	---	---
ITPKB	3707	broad.mit.edu	37	1	226829751	226829751	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr1:226829751G>C	ENST00000272117.3	-	4	2321	c.2322C>G	c.(2320-2322)atC>atG	p.I774M	ITPKB_ENST00000429204.1_Missense_Mutation_p.I774M			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	774	Calmodulin-binding. {ECO:0000250}.				cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.I774M(1)|p.I300M(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GGTCCACCTCGATCATCTTCT	0.627																																					Colon(84;110 1851 5306 33547)	uc010pvo.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)	5						c.(2320-2322)ATC>ATG		1D-myo-inositol-trisphosphate 3-kinase B							161.0	151.0	154.0					1																	226829751		2203	4300	6503	SO:0001583	missense	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226829751G>C	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2322C>G	1.37:g.226829751G>C	ENSP00000272117:p.Ile774Met						p.I774M	NM_002221	NP_002212	P27987	IP3KB_HUMAN			5	2662	-		Prostate(94;0.0773)	774			Calmodulin-binding (By similarity).		Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	c.2322C>G	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402359	0.42613	.	.	ENSG00000143772	ENST00000272117;ENST00000429204	T;T	0.15017	2.46;2.46	5.8	-11.6	0.00059	.	0.288708	0.38959	N	0.001518	T	0.12944	0.0314	M	0.71581	2.175	0.27310	N	0.957348	B	0.25667	0.131	B	0.34093	0.175	T	0.17776	-1.0358	10	0.72032	D	0.01	-4.3332	3.4365	0.07448	0.505:0.2015:0.1562:0.1373	.	774	P27987	IP3KB_HUMAN	M	774	ENSP00000272117:I774M;ENSP00000411152:I774M	ENSP00000272117:I774M	I	-	3	3	ITPKB	224896374	0.000000	0.05858	0.154000	0.22540	0.991000	0.79684	-2.373000	0.01072	-2.708000	0.00395	-0.145000	0.13849	ATC		PASS	0.627	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		136	163	136	163	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237604779	237604779	+	Missense_Mutation	SNP	G	G	A	rs200685968		TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr1:237604779G>A	ENST00000366574.2	+	13	1483	c.1166G>A	c.(1165-1167)cGt>cAt	p.R389H	RYR2_ENST00000360064.6_Missense_Mutation_p.R387H|RYR2_ENST00000542537.1_Missense_Mutation_p.R373H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	389	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R387H(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTATACAACGTAAGGTAAGG	0.358													G|||	1	0.000199681	0.0	0.0	5008	,	,		17404	0.0		0.0	False		,,,				2504	0.001					uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(1165-1167)CGT>CAT		cardiac muscle ryanodine receptor		G	HIS/ARG	0,3686		0,0,1843	113.0	104.0	107.0		1166	4.4	1.0	1		107	2,8198		0,2,4098	yes	missense	RYR2	NM_001035.2	29	0,2,5941	AA,AG,GG		0.0244,0.0,0.0168	probably-damaging	389/4968	237604779	2,11884	1843	4100	5943	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237604779G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1166G>A	1.37:g.237604779G>A	ENSP00000355533:p.Arg389His						p.R389H	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		13	1286	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	389			Cytoplasmic (By similarity).|MIR 5.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.1166G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966451	0.74131	0.0	2.44E-4	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.87256	-2.23;-2.23;-2.23	5.34	4.41	0.53225	MIR motif (1);MIR (2);	0.000000	0.64402	D	0.000009	D	0.93164	0.7823	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.94054	0.7320	10	0.72032	D	0.01	.	15.6368	0.76961	0.0:0.0:0.8613:0.1387	.	389	Q92736	RYR2_HUMAN	H	389;387;373	ENSP00000355533:R389H;ENSP00000353174:R387H;ENSP00000443798:R373H	ENSP00000353174:R387H	R	+	2	0	RYR2	235671402	1.000000	0.71417	0.994000	0.49952	0.602000	0.36980	9.554000	0.98121	1.354000	0.45846	-0.181000	0.13052	CGT		PASS	0.358	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		38	103	38	103	---	---	---	---
VN1R5	317705	broad.mit.edu	37	1	247419831	247419831	+	IGR	SNP	T	T	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr1:247419831T>A								RP11-488L18.8 (14706 upstream) : Y_RNA (38305 downstream)																							ATCTTCTCCTTGGCAAAGCTC	0.488																																						uc010pyu.1																			0					0						c.(457-459)TTG>TAG		vomeronasal 1 receptor 5							158.0	158.0	158.0					1																	247419831		2072	4214	6286	SO:0001628	intergenic_variant	317705				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr1:247419831T>A																													1.37:g.247419831T>A							p.L153*	NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00854)		2	458	+	all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	153			Extracellular (Potential).			Nonsense_Mutation	SNP		37	c.458T>A																																																																																				0	PASS	0.488									79	239	79	239	---	---	---	---
OR2G3	81469	broad.mit.edu	37	1	247769642	247769642	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr1:247769642A>T	ENST00000320002.2	+	1	787	c.755A>T	c.(754-756)tAt>tTt	p.Y252F	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|RNU6-691P_ENST00000516585.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y252F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATTATATTCTATGGCACCATA	0.488																																						uc010pyz.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(754-756)TAT>TTT		olfactory receptor, family 2, subfamily G,							109.0	101.0	104.0					1																	247769642		2203	4300	6503	SO:0001583	missense	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769642A>T	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.755A>T	1.37:g.247769642A>T	ENSP00000326301:p.Tyr252Phe						p.Y252F	NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	755	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		252			Helical; Name=6; (Potential).		B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	c.755A>T	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	A	14.54	2.567265	0.45694	.	.	ENSG00000177476	ENST00000320002	T	0.25085	1.82	3.65	2.45	0.29901	GPCR, rhodopsin-like superfamily (1);	0.243832	0.20798	N	0.085490	T	0.27313	0.0670	L	0.43923	1.385	0.21473	N	0.999676	B	0.33857	0.429	P	0.45099	0.469	T	0.15925	-1.0420	10	0.36615	T	0.2	.	7.3916	0.26913	0.8047:0.0:0.0:0.1953	.	252	Q8NGZ4	OR2G3_HUMAN	F	252	ENSP00000326301:Y252F	ENSP00000326301:Y252F	Y	+	2	0	OR2G3	245836265	0.000000	0.05858	0.839000	0.33178	0.775000	0.43874	-0.071000	0.11505	0.526000	0.28541	0.403000	0.27427	TAT		PASS	0.488	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			68	78	68	78	---	---	---	---
TRIM58	25893	broad.mit.edu	37	1	248039548	248039548	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr1:248039548A>C	ENST00000366481.3	+	6	1266	c.1218A>C	c.(1216-1218)gaA>gaC	p.E406D	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	406	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.E406D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCCAACTGGAAAGTCCTCGCT	0.488																																						uc001ido.2																			1	Substitution - Missense(1)	p.E406*(1)	lung(1)	skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(1216-1218)GAA>GAC		tripartite motif-containing 58							153.0	158.0	156.0					1																	248039548		2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248039548A>C	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1218A>C	1.37:g.248039548A>C	ENSP00000355437:p.Glu406Asp					OR2W3_uc001idp.1_Intron	p.E406D	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		6	1266	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	406			B30.2/SPRY.		Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.1218A>C	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	A	0.072	-1.201112	0.01581	.	.	ENSG00000162722	ENST00000366481	T	0.70631	-0.5	4.05	-1.16	0.09678	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.689966	0.13548	N	0.379700	T	0.59197	0.2176	L	0.49778	1.585	0.09310	N	1	B	0.15473	0.013	B	0.25405	0.06	T	0.51795	-0.8660	10	0.48119	T	0.1	.	4.658	0.12628	0.4631:0.1664:0.3704:0.0	.	406	Q8NG06	TRI58_HUMAN	D	406	ENSP00000355437:E406D	ENSP00000355437:E406D	E	+	3	2	TRIM58	246106171	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.342000	0.02645	-0.196000	0.10366	-0.297000	0.09499	GAA		PASS	0.488	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		103	362	103	362	---	---	---	---
OR2T1	26696	broad.mit.edu	37	1	248570350	248570350	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr1:248570350A>G	ENST00000366474.1	+	1	1055	c.1055A>G	c.(1054-1056)aAg>aGg	p.K352R		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	352						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K352R(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGAGCTCTGAAGAGGGCCTTG	0.522																																						uc010pzm.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1054-1056)AAG>AGG		olfactory receptor, family 2, subfamily T,							144.0	155.0	151.0					1																	248570350		2203	4300	6503	SO:0001583	missense	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248570350A>G	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.1055A>G	1.37:g.248570350A>G	ENSP00000355430:p.Lys352Arg						p.K352R	NM_030904	NP_112166	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	1055	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		352			Cytoplasmic (Potential).		Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	c.1055A>G	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	a	6.929	0.541197	0.13250	.	.	ENSG00000175143	ENST00000366474	T	0.38077	1.16	5.19	-6.5	0.01884	.	0.416543	0.17358	N	0.177131	T	0.12774	0.0310	N	0.11106	0.095	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.33979	-0.9847	10	0.09843	T	0.71	.	8.8835	0.35389	0.2492:0.2463:0.5045:0.0	.	352	O43869	OR2T1_HUMAN	R	352	ENSP00000355430:K352R	ENSP00000355430:K352R	K	+	2	0	OR2T1	246636973	0.000000	0.05858	0.000000	0.03702	0.218000	0.24690	-1.188000	0.03064	-1.084000	0.03092	-0.316000	0.08728	AAG		PASS	0.522	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			69	375	69	375	---	---	---	---
DYNC2LI1	51626	broad.mit.edu	37	2	44032358	44032358	+	Silent	SNP	C	C	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr2:44032358C>T	ENST00000260605.8	+	12	1066	c.966C>T	c.(964-966)gtC>gtT	p.V322V	DYNC2LI1_ENST00000605786.1_Silent_p.V323V|DYNC2LI1_ENST00000443170.3_Silent_p.V196V	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	322					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)	p.V322V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AAAATGAAGTCGATGAGATGA	0.378																																						uc002rtk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(964-966)GTC>GTT		dynein 2 light intermediate chain isoform 1							87.0	93.0	91.0					2																	44032358		2203	4300	6503	SO:0001819	synonymous_variant	51626					apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity	g.chr2:44032358C>T		CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"""Cytoplasmic dyneins"""	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.966C>T	2.37:g.44032358C>T						DYNC2LI1_uc002rtj.2_Silent_p.V322V|DYNC2LI1_uc002rtl.2_Silent_p.V323V|DYNC2LI1_uc010ynz.1_Silent_p.V196V	p.V322V	NM_016008	NP_057092	Q8TCX1	DC2L1_HUMAN			12	1062	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	322					A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Silent	SNP	ENST00000260605.8	37	c.966C>T	CCDS1813.1	.	.	.	.	.	.	.	.	.	.	C	6.419	0.445402	0.12164	.	.	ENSG00000138036	ENST00000378587	.	.	.	4.88	-6.12	0.02124	.	.	.	.	.	T	0.38054	0.1026	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38585	-0.9654	4	.	.	.	-18.664	3.2782	0.06906	0.0974:0.1265:0.3004:0.4758	.	.	.	.	L	306	.	.	S	+	2	0	DYNC2LI1	43885862	0.876000	0.30132	0.894000	0.35097	0.680000	0.39746	-0.501000	0.06398	-1.216000	0.02607	-2.153000	0.00332	TCG		PASS	0.378	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250536.2	NM_016008		64	79	64	79	---	---	---	---
ETAA1	54465	broad.mit.edu	37	2	67630366	67630366	+	Silent	SNP	A	A	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr2:67630366A>T	ENST00000272342.5	+	5	682	c.552A>T	c.(550-552)acA>acT	p.T184T	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	184						cytoplasm (GO:0005737)		p.T184T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GGTTAAAAACACAAAGTCAAG	0.259																																						uc002sdz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(550-552)ACA>ACT		ETAA16 protein							21.0	25.0	24.0					2																	67630366		2094	4237	6331	SO:0001819	synonymous_variant	54465					cytoplasm|nucleus		g.chr2:67630366A>T	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.552A>T	2.37:g.67630366A>T							p.T184T	NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN			5	691	+			184			Potential.		Q05BT7|Q53SC4	Silent	SNP	ENST00000272342.5	37	c.552A>T	CCDS1882.1																																																																																				PASS	0.259	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		29	51	29	51	---	---	---	---
DUSP11	8446	broad.mit.edu	37	2	73993667	73993667	+	Silent	SNP	G	G	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr2:73993667G>A	ENST00000272444.3	-	8	854	c.813C>T	c.(811-813)ctC>ctT	p.L271L	DUSP11_ENST00000480948.1_Intron	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	224					peptidyl-tyrosine dephosphorylation (GO:0035335)|polynucleotide 5' dephosphorylation (GO:0098507)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphatase activity (GO:0016791)|poly(A) RNA binding (GO:0044822)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA binding (GO:0003723)	p.L224L(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						CTGGTTGCATGAGATGTGCTG	0.418																																						uc002sjp.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(811-813)CTC>CTT		dual specificity phosphatase 11							146.0	143.0	144.0					2																	73993667		2203	4300	6503	SO:0001819	synonymous_variant	8446				RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding	g.chr2:73993667G>A	AF023917	CCDS1928.2	2p13.1	2011-06-09			ENSG00000144048	ENSG00000144048		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3066	protein-coding gene	gene with protein product		603092				9685386	Standard	NM_003584		Approved	PIR1	uc002sjp.3	O75319	OTTHUMG00000129816	ENST00000272444.3:c.813C>T	2.37:g.73993667G>A							p.L271L	NM_003584	NP_003575	O75319	DUS11_HUMAN			8	855	-			224					B2RCT8|Q6AI47|Q9BWE3	Silent	SNP	ENST00000272444.3	37	c.813C>T	CCDS1928.2																																																																																				PASS	0.418	DUSP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252047.3			76	215	76	215	---	---	---	---
CHMP3	51652	broad.mit.edu	37	2	86769390	86769390	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr2:86769390C>G	ENST00000263856.4	-	2	219	c.91G>C	c.(91-93)Gac>Cac	p.D31H	CHMP3_ENST00000409727.1_Missense_Mutation_p.D31H|CHMP3_ENST00000439940.2_Missense_Mutation_p.D60H|RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.D60H|CHMP3_ENST00000409225.2_Intron	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1	Q9Y3E7	CHMP3_HUMAN	charged multivesicular body protein 3	31	Intramolecular interaction with C- terminus.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.D31H(1)									ATTTGCCTGTCAACAACTCTC	0.328																																						uc002srj.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(91-93)GAC>CAC		vacuolar protein sorting 24 isoform 1							134.0	126.0	128.0					2																	86769390		2203	4298	6501	SO:0001583	missense	51652				cell cycle|cell division|cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding	g.chr2:86769390C>G	AF219226	CCDS33236.1, CCDS42707.1, CCDS54375.1	2p11.2	2011-09-21	2011-09-21	2011-09-21	ENSG00000115561	ENSG00000115561		"""Charged multivesicular body proteins"""	29865	protein-coding gene	gene with protein product		610052	"""vacuolar protein sorting 24 (yeast)"", ""vacuolar protein sorting 24 homolog (S. cerevisiae)"""	VPS24		11549700, 12878588	Standard	NM_016079		Approved	NEDF, CGI-149		Q9Y3E7	OTTHUMG00000153189	ENST00000263856.4:c.91G>C	2.37:g.86769390C>G	ENSP00000263856:p.Asp31His					VPS24_uc002srk.2_Intron|VPS24_uc002srl.2_Missense_Mutation_p.D31H|VPS24_uc010ytl.1_Missense_Mutation_p.D60H	p.D31H	NM_016079	NP_057163	Q9Y3E7	CHMP3_HUMAN			2	220	-			31			Potential.|Intramolecular interaction with C- terminus.		A8K3W0|B4DG34|B8ZZM0|B8ZZX5|Q3ZTS9|Q53S71|Q53SU5|Q9NZ51	Missense_Mutation	SNP	ENST00000263856.4	37	c.91G>C	CCDS33236.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842674	0.71488	.	.	ENSG00000115561;ENSG00000115561;ENSG00000115561;ENSG00000249884	ENST00000263856;ENST00000409727;ENST00000439940;ENST00000440757	T;D;T;T	0.90069	-0.77;-2.61;-0.77;-0.77	5.39	5.39	0.77823	.	0.164643	0.56097	D	0.000024	D	0.95526	0.8546	M	0.92970	3.365	0.80722	D	1	D;P;D	0.71674	0.983;0.703;0.998	D;P;D	0.72625	0.938;0.569;0.978	D	0.96171	0.9123	10	0.87932	D	0	-18.9519	15.005	0.71504	0.0:1.0:0.0:0.0	.	60;31;31	Q9Y3E7-3;Q9Y3E7-4;Q9Y3E7	.;.;CHMP3_HUMAN	H	31;31;60;138	ENSP00000263856:D31H;ENSP00000387045:D31H;ENSP00000405575:D60H;ENSP00000392995:D138H	ENSP00000392995:D138H	D	-	1	0	VPS24;RNF103-VPS24	86622901	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.400000	0.59709	2.690000	0.91761	0.655000	0.94253	GAC		PASS	0.328	CHMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330015.2	NM_016079		21	137	21	137	---	---	---	---
CNGA3	1261	broad.mit.edu	37	2	99013489	99013489	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr2:99013489C>T	ENST00000272602.2	+	7	1895	c.1856C>T	c.(1855-1857)gCg>gTg	p.A619V	CNGA3_ENST00000393504.1_Missense_Mutation_p.A619V|CNGA3_ENST00000409937.1_Missense_Mutation_p.A623V|CNGA3_ENST00000436404.2_Missense_Mutation_p.A601V			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	619					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.A619V(3)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CTGGCCAGGGCGGGCGCGGAC	0.622																																						uc002syt.2																			3	Substitution - Missense(3)		lung(1)|prostate(1)|central_nervous_system(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(1855-1857)GCG>GTG		cyclic nucleotide gated channel alpha 3 isoform							31.0	30.0	30.0					2																	99013489		2203	4300	6503	SO:0001583	missense	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99013489C>T	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1856C>T	2.37:g.99013489C>T	ENSP00000272602:p.Ala619Val					CNGA3_uc002syu.2_Missense_Mutation_p.A601V|CNGA3_uc010fij.2_Missense_Mutation_p.A623V	p.A619V	NM_001298	NP_001289	Q16281	CNGA3_HUMAN			8	2273	+			619					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	c.1856C>T	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	C	9.004	0.980852	0.18812	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.97688	-4.39;-4.34;-4.39;-4.49	5.42	3.56	0.40772	.	0.101073	0.64402	D	0.000002	D	0.95956	0.8683	M	0.76574	2.34	0.19945	N	0.999941	B;B;B	0.25743	0.122;0.07;0.133	B;B;B	0.17722	0.017;0.019;0.019	D	0.90043	0.4143	10	0.31617	T	0.26	.	11.3628	0.49653	0.0:0.7824:0.1387:0.079	.	623;601;619	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	V	619;601;619;623	ENSP00000377140:A619V;ENSP00000410070:A601V;ENSP00000272602:A619V;ENSP00000386761:A623V	ENSP00000272602:A619V	A	+	2	0	CNGA3	98379921	0.001000	0.12720	0.056000	0.19401	0.575000	0.36095	0.071000	0.14594	1.528000	0.49103	0.563000	0.77884	GCG		PASS	0.622	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		9	31	9	31	---	---	---	---
SPOPL	339745	broad.mit.edu	37	2	139326626	139326626	+	Silent	SNP	A	A	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr2:139326626A>T	ENST00000280098.4	+	11	1534	c.1155A>T	c.(1153-1155)ccA>ccT	p.P385P	AC092620.2_ENST00000458007.2_RNA	NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	385					negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)		p.P385P(1)		breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		TTGGCATTCCACGCAAACGGC	0.443																																						uc002tvh.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|breast(1)	3						c.(1153-1155)CCA>CCT		speckle-type POZ protein-like							244.0	240.0	241.0					2																	139326626		2203	4300	6503	SO:0001819	synonymous_variant	339745					nucleus		g.chr2:139326626A>T		CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"""BTB/POZ domain containing"""	27934	protein-coding gene	gene with protein product	"""HIB homolog 2"", ""roadkill homolog 2"""						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.1155A>T	2.37:g.139326626A>T							p.P385P	NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0296)	11	1555	+			385						Silent	SNP	ENST00000280098.4	37	c.1155A>T	CCDS33298.1																																																																																				PASS	0.443	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1			288	301	288	301	---	---	---	---
STK39	27347	broad.mit.edu	37	2	169023809	169023809	+	Splice_Site	SNP	C	C	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr2:169023809C>A	ENST00000355999.4	-	3	1135	c.430G>T	c.(430-432)Ggt>Tgt	p.G144C		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	144	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular hypotonic response (GO:0071476)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of potassium ion transport (GO:0043268)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|response to stress (GO:0006950)|signal transduction by phosphorylation (GO:0023014)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)	p.G144C(2)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						ATCCACTTACCTCCACTTAGT	0.398																																						uc002uea.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(430-432)GGT>TGT		serine threonine kinase 39 (STE20/SPS1 homolog,							90.0	83.0	85.0					2																	169023809		1896	4124	6020	SO:0001630	splice_region_variant	27347				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity	g.chr2:169023809C>A	AF099989	CCDS42770.1	2q24.3	2010-06-25	2010-06-25		ENSG00000198648	ENSG00000198648			17717	protein-coding gene	gene with protein product	"""STE20/SPS1 homolog (yeast)"""	607648				10980603	Standard	NM_013233		Approved	DCHT, SPAK	uc002uea.3	Q9UEW8	OTTHUMG00000133745	ENST00000355999.4:c.430+1G>T	2.37:g.169023809C>A							p.G144C	NM_013233	NP_037365	Q9UEW8	STK39_HUMAN			3	590	-			144			Protein kinase.		O14774|Q53S90|Q53SL7|Q53SS1|Q9UER4|X5D9C8	Missense_Mutation	SNP	ENST00000355999.4	37	c.430G>T	CCDS42770.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035515	0.93630	.	.	ENSG00000198648	ENST00000355999	T	0.36340	1.26	6.03	6.03	0.97812	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70798	0.3265	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75127	-0.3427	9	.	.	.	-17.1259	20.5568	0.99304	0.0:1.0:0.0:0.0	.	144	Q9UEW8	STK39_HUMAN	C	144	ENSP00000348278:G144C	.	G	-	1	0	STK39	168732055	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.453000	0.80700	2.861000	0.98227	0.655000	0.94253	GGT		PASS	0.398	STK39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258112.2	NM_013233	Missense_Mutation	50	41	50	41	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179399114	179399114	+	Silent	SNP	C	C	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr2:179399114C>T	ENST00000591111.1	-	308	97529	c.97305G>A	c.(97303-97305)aaG>aaA	p.K32435K	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Silent_p.K25011K|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.K25136K|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.K25203K|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000589042.1_Silent_p.K34076K|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.K31508K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32435					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.K31508K(1)|p.K31506K(1)|p.K25203K(1)|p.K25136K(1)|p.K25011K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTTTCTATCTTCTGCTTCA	0.458																																						uc010zfg.1																			5	Substitution - coding silent(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(94522-94524)AAG>AAA		titin isoform N2-A							131.0	128.0	129.0					2																	179399114		1922	4136	6058	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179399114C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.97305G>A	2.37:g.179399114C>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.K25203K|TTN_uc010zfi.1_Silent_p.K25136K|TTN_uc010zfj.1_Silent_p.K25011K	p.K31508K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	94748	-			32435					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.94524G>A																																																																																					PASS	0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		35	145	35	145	---	---	---	---
STAT1	6772	broad.mit.edu	37	2	191845378	191845378	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr2:191845378C>T	ENST00000361099.3	-	19	1987	c.1600G>A	c.(1600-1602)Gat>Aat	p.D534N	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.D534N|STAT1_ENST00000392323.2_Missense_Mutation_p.D536N|STAT1_ENST00000392322.3_Missense_Mutation_p.D534N	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	534					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)	p.D534N(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			ATGAGACCATCGGGGCTGGCG	0.433																																						uc002usj.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10						c.(1600-1602)GAT>AAT		signal transducer and activator of transcription	Fludarabine(DB01073)						126.0	117.0	120.0					2																	191845378		2203	4300	6503	SO:0001583	missense	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191845378C>T		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1600G>A	2.37:g.191845378C>T	ENSP00000354394:p.Asp534Asn					STAT1_uc010fse.1_Missense_Mutation_p.D534N|STAT1_uc002usk.2_Missense_Mutation_p.D534N|STAT1_uc002usl.2_Missense_Mutation_p.D536N|STAT1_uc010fsf.1_Missense_Mutation_p.D346N	p.D534N	NM_007315	NP_009330	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		19	1988	-			534					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	c.1600G>A	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975689	0.74360	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.13	5.13	0.70059	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.237259	0.49916	D	0.000127	T	0.74635	0.3742	L	0.28400	0.85	0.80722	D	1	D;B	0.58970	0.984;0.175	P;B	0.51193	0.662;0.148	T	0.68689	-0.5342	10	0.12430	T	0.62	-17.224	19.128	0.93393	0.0:1.0:0.0:0.0	.	534;534	P42224-2;P42224	.;STAT1_HUMAN	N	534;534;534;536	ENSP00000354394:D534N;ENSP00000386244:D534N;ENSP00000376136:D534N;ENSP00000376137:D536N	ENSP00000354394:D534N	D	-	1	0	STAT1	191553623	1.000000	0.71417	0.331000	0.25455	0.251000	0.25915	6.467000	0.73547	2.824000	0.97209	0.655000	0.94253	GAT		PASS	0.433	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		16	64	16	64	---	---	---	---
PLCL1	5334	broad.mit.edu	37	2	198950527	198950527	+	Silent	SNP	G	G	A	rs144546582		TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr2:198950527G>A	ENST00000428675.1	+	2	2684	c.2286G>A	c.(2284-2286)tcG>tcA	p.S762S	PLCL1_ENST00000437704.2_Silent_p.S664S	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	762	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.S762S(1)|p.S664S(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CGGATTGTTCGGAACAAAGAA	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		21237	0.0		0.001	False		,,,				2504	0.0					uc010fsp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(2284-2286)TCG>TCA		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)	G		0,4406		0,0,2203	85.0	80.0	82.0		2286	-10.7	0.0	2	dbSNP_134	82	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	PLCL1	NM_006226.3		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		762/1096	198950527	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950527G>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2286G>A	2.37:g.198950527G>A						PLCL1_uc002uuv.3_Silent_p.S683S	p.S762S	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	2577	+			762			C2.		Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	c.2286G>A	CCDS2326.2																																																																																				PASS	0.423	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		56	173	56	173	---	---	---	---
AOX1	316	broad.mit.edu	37	2	201515770	201515770	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr2:201515770T>A	ENST00000374700.2	+	26	3162	c.2921T>A	c.(2920-2922)aTc>aAc	p.I974N	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	974					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.I974N(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AAGAACCTAATCCAGTGTTGG	0.393																																						uc002uvx.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(2920-2922)ATC>AAC		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						152.0	141.0	145.0					2																	201515770		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201515770T>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.2921T>A	2.37:g.201515770T>A	ENSP00000363832:p.Ile974Asn					AOX1_uc010zhf.1_Missense_Mutation_p.I530N|AOX1_uc010fsu.2_Missense_Mutation_p.I340N	p.I974N	NM_001159	NP_001150	Q06278	ADO_HUMAN			26	3022	+			974					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.2921T>A	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	T	0.413	-0.912477	0.02415	.	.	ENSG00000138356	ENST00000374700	T	0.37584	1.19	5.41	-7.29	0.01451	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (2);	1.438320	0.03889	N	0.278415	T	0.19087	0.0458	L	0.31526	0.94	0.09310	N	1	B	0.02656	0.0	B	0.14023	0.01	T	0.13764	-1.0497	10	0.17832	T	0.49	-1.6475	1.9791	0.03422	0.1853:0.3516:0.1899:0.2733	.	974	Q06278	ADO_HUMAN	N	974	ENSP00000363832:I974N	ENSP00000363832:I974N	I	+	2	0	AOX1	201224015	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.509000	0.06336	-1.638000	0.01529	-1.253000	0.01494	ATC		PASS	0.393	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		89	98	89	98	---	---	---	---
B3GNT7	93010	broad.mit.edu	37	2	232263482	232263482	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr2:232263482G>A	ENST00000287590.5	+	2	1313	c.1052G>A	c.(1051-1053)gGc>gAc	p.G351D		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	351					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)	p.G351D(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		AAGACTTTCGGCATCTCCCGG	0.637																																						uc002vrs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1051-1053)GGC>GAC		UDP-GlcNAc:betaGal							34.0	41.0	39.0					2																	232263482		2089	4201	6290	SO:0001583	missense	93010				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr2:232263482G>A	AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"""Beta 3-glycosyltransferases"""	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.1052G>A	2.37:g.232263482G>A	ENSP00000287590:p.Gly351Asp						p.G351D	NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)	2	1232	+		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	351			Lumenal (Potential).		B3KWY4|B7WNP0	Missense_Mutation	SNP	ENST00000287590.5	37	c.1052G>A	CCDS46540.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313586	0.81358	.	.	ENSG00000156966	ENST00000287590	T	0.37235	1.21	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.57873	0.2083	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55444	-0.8140	10	0.37606	T	0.19	.	17.4035	0.87467	0.0:0.0:1.0:0.0	.	351	Q8NFL0	B3GN7_HUMAN	D	351	ENSP00000287590:G351D	ENSP00000287590:G351D	G	+	2	0	B3GNT7	231971726	1.000000	0.71417	0.998000	0.56505	0.672000	0.39443	9.743000	0.98849	2.355000	0.79922	0.561000	0.74099	GGC		PASS	0.637	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332827.1	NM_145236		8	44	8	44	---	---	---	---
CNTN4	152330	broad.mit.edu	37	3	3081782	3081782	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr3:3081782A>G	ENST00000397461.1	+	19	2609	c.2225A>G	c.(2224-2226)tAc>tGc	p.Y742C	CNTN4_ENST00000427331.1_Missense_Mutation_p.Y742C|CNTN4_ENST00000397459.2_Missense_Mutation_p.Y414C|CNTN4_ENST00000358480.3_Missense_Mutation_p.Y523C|CNTN4_ENST00000418658.1_Missense_Mutation_p.Y742C|CNTN4_ENST00000448906.2_Missense_Mutation_p.Y414C|CNTN4-AS1_ENST00000442749.2_RNA	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	742	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.Y742C(1)|p.Y414C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TTCCGGCCCTACGGTAAAATG	0.517																																						uc003bpc.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(2224-2226)TAC>TGC		contactin 4 isoform a precursor							133.0	117.0	123.0					3																	3081782		2203	4300	6503	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3081782A>G	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2225A>G	3.37:g.3081782A>G	ENSP00000380602:p.Tyr742Cys					CNTN4_uc003bpb.1_Missense_Mutation_p.Y413C|CNTN4_uc003bpe.2_Missense_Mutation_p.Y414C|CNTN4_uc003bpf.2_Missense_Mutation_p.Y413C|CNTN4_uc003bpg.2_5'UTR	p.Y742C	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	19	2446	+		Ovarian(110;0.156)	742			Fibronectin type-III 2.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.2225A>G	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	A	14.05	2.419857	0.42918	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59	5.09	3.78	0.43462	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.481828	0.20011	N	0.101137	T	0.42562	0.1208	N	0.19112	0.55	0.09310	N	1	B;B	0.28258	0.176;0.205	B;B	0.41299	0.353;0.264	T	0.38001	-0.9681	10	0.38643	T	0.18	.	8.0795	0.30737	0.5887:0.0:0.0:0.4113	.	741;742	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	C	742;742;742;523;414;414	ENSP00000396010:Y742C;ENSP00000380602:Y742C;ENSP00000413642:Y742C;ENSP00000351267:Y523C;ENSP00000380600:Y414C;ENSP00000392077:Y414C	ENSP00000351267:Y523C	Y	+	2	0	CNTN4	3056782	0.001000	0.12720	0.425000	0.26659	0.945000	0.59286	1.344000	0.33941	2.038000	0.60285	0.533000	0.62120	TAC		PASS	0.517	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			44	49	44	49	---	---	---	---
VHL	7428	broad.mit.edu	37	3	10183766	10183766	+	Missense_Mutation	SNP	C	C	G	rs200885420		TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr3:10183766C>G	ENST00000256474.2	+	1	1075	c.235C>G	c.(235-237)Cgc>Ggc	p.R79G	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.R79G	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	79			R -> P (in VHLD).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.F76fs*80(2)|p.S72_V87>L(1)|p.R60fs*35(1)|p.C77_R79del(1)|p.N78_R79insN(1)|p.N78fs*80(1)|p.V74fs*77(1)|p.R79fs*80(1)|p.F76fs*81(1)|p.R79G(1)|p.N78fs*50(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CTTCTGCAATCGCAGTCCGCG	0.711		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													uc003bvc.2		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	D|Mis|N|F|S	von Hippel-Lindau syndrome gene			"""E, M, O"""		renal|hemangioma|pheochromocytoma	renal|hemangioma|pheochromocytoma		12	Deletion - Frameshift(6)|Complex - frameshift(2)|Deletion - In frame(1)|Insertion - In frame(1)|Complex - deletion inframe(1)|Substitution - Missense(1)	p.F76fs*80(2)|p.R79fs*80(2)|p.S72_V87>L(1)|p.R79R(1)|p.R60fs*35(1)|p.R79P(1)|p.R79_P81>P(1)|p.C77_R79del(1)|p.N78_R79insN(1)|p.R79H(1)|p.N78fs*80(1)|p.V74fs*77(1)|p.F76fs*81(1)|p.R79fs*52(1)|p.R79fs*88(1)	kidney(11)|lung(1)	kidney(1273)|soft_tissue(24)|adrenal_gland(15)|large_intestine(13)|pancreas(5)|endometrium(4)|thyroid(3)|upper_aerodigestive_tract(3)|central_nervous_system(2)|lung(2)|pleura(1)|paratesticular_tissues(1)	1346	GRCh37	CM057219	VHL	M		c.(235-237)CGC>GGC		von Hippel-Lindau tumor suppressor isoform 1							12.0	15.0	14.0					3																	10183766		2177	4241	6418	SO:0001583	missense	7428	von_Hippel-Lindau_disease|Chuvash_Polycythemia_|Pheochromocytoma_(Adrenal)_Familial	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10183766C>G	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.235C>G	3.37:g.10183766C>G	ENSP00000256474:p.Arg79Gly					VHL_uc003bvd.2_Missense_Mutation_p.R79G	p.R79G	NM_000551	NP_000542	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	1	448	+			79		R -> P (in VHLD).			B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	c.235C>G	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820377	0.90873	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99830	-7.01;-7.01	5.43	4.56	0.56223	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.221156	0.48286	D	0.000186	D	0.99579	0.9848	L	0.52759	1.655	0.25242	N	0.989745	D;D	0.63880	0.992;0.993	P;D	0.64144	0.813;0.922	D	0.99060	1.0830	10	0.54805	T	0.06	-11.3454	12.3184	0.54971	0.0:0.9174:0.0:0.0825	.	79;79	P40337-2;P40337	.;VHL_HUMAN	G	79	ENSP00000256474:R79G;ENSP00000344757:R79G	ENSP00000256474:R79G	R	+	1	0	VHL	10158766	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.680000	0.37607	1.300000	0.44818	0.550000	0.68814	CGC		PASS	0.711	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		5	9	5	9	---	---	---	---
EPM2AIP1	9852	broad.mit.edu	37	3	37032748	37032748	+	Silent	SNP	T	T	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr3:37032748T>C	ENST00000322716.5	-	1	2047	c.1821A>G	c.(1819-1821)ccA>ccG	p.P607P	MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000435176.1_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	607					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)		p.P607P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						CAAAGCCTTATGGATTAGATT	0.368																																						uc003cgk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1819-1821)CCA>CCG		EPM2A interacting protein 1							79.0	78.0	78.0					3																	37032748		1822	4076	5898	SO:0001819	synonymous_variant	9852					endoplasmic reticulum		g.chr3:37032748T>C	AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.1821A>G	3.37:g.37032748T>C						MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank	p.P607P	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN			1	2048	-			607					O94866|Q9H3L3	Silent	SNP	ENST00000322716.5	37	c.1821A>G	CCDS46790.1																																																																																				PASS	0.368	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805		44	65	44	65	---	---	---	---
CSRNP1	64651	broad.mit.edu	37	3	39185792	39185792	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr3:39185792G>A	ENST00000273153.5	-	4	793	c.616C>T	c.(616-618)Cga>Tga	p.R206*	CSRNP1_ENST00000514182.1_Nonsense_Mutation_p.R206*	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	206					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R206*(1)		central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						GCTCGACGTCGCCGGGCTGGG	0.632																																						uc003cjg.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|skin(1)	5						c.(616-618)CGA>TGA		AXIN1 up-regulated 1							72.0	68.0	69.0					3																	39185792		2203	4300	6503	SO:0001587	stop_gained	64651				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:39185792G>A	AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"""AXIN1 up-regulated 1"""	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.616C>T	3.37:g.39185792G>A	ENSP00000273153:p.Arg206*					CSRNP1_uc003cjh.2_Nonsense_Mutation_p.R206*	p.R206*	NM_033027	NP_149016	Q96S65	CSRN1_HUMAN			4	830	-			206					Q69YY5	Nonsense_Mutation	SNP	ENST00000273153.5	37	c.616C>T	CCDS2682.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578886	0.86645	.	.	ENSG00000144655	ENST00000273153;ENST00000514182	.	.	.	5.14	-0.214	0.13161	.	1.271090	0.05427	N	0.545261	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	0.0	5.4271	0.16431	0.0747:0.0921:0.2668:0.5664	.	.	.	.	X	206	.	ENSP00000273153:R206X	R	-	1	2	CSRNP1	39160796	0.395000	0.25254	0.219000	0.23793	0.809000	0.45718	0.494000	0.22467	0.006000	0.14734	0.555000	0.69702	CGA		PASS	0.632	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027		58	54	58	54	---	---	---	---
KLHL40	131377	broad.mit.edu	37	3	42729785	42729785	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr3:42729785A>G	ENST00000287777.4	+	2	1404	c.1304A>G	c.(1303-1305)tAc>tGc	p.Y435C		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	435					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)		p.Y435C(1)									GTCATGTGCTACGACAGGCTG	0.647																																						uc003clv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1303-1305)TAC>TGC		kelch repeat and BTB (POZ) domain containing 5							40.0	38.0	38.0					3																	42729785		2202	4300	6502	SO:0001583	missense	131377							g.chr3:42729785A>G	AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"""Kelch-like"", ""BTB/POZ domain containing"""	30372	protein-coding gene	gene with protein product	"""sarcosynapsin"", ""nemaline myopathy type 8"""	615340	"""kelch repeat and BTB (POZ) domain containing 5"", ""kelch-like 40 (Drosophila)"""	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.1304A>G	3.37:g.42729785A>G	ENSP00000287777:p.Tyr435Cys						p.Y435C	NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	2	1404	+			435			Kelch 2.		Q86SI1|Q96MR2	Missense_Mutation	SNP	ENST00000287777.4	37	c.1304A>G	CCDS2703.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.013257	0.75161	.	.	ENSG00000157119	ENST00000287777;ENST00000452129	T	0.77877	-1.13	4.84	4.84	0.62591	Kelch-type beta propeller (1);	0.257620	0.39985	N	0.001204	D	0.87497	0.6192	M	0.78344	2.41	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.89288	0.3617	10	0.87932	D	0	.	14.4108	0.67113	1.0:0.0:0.0:0.0	.	435	Q2TBA0	KBTB5_HUMAN	C	435;180	ENSP00000287777:Y435C	ENSP00000287777:Y435C	Y	+	2	0	KBTBD5	42704789	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	8.975000	0.93437	1.812000	0.52913	0.374000	0.22700	TAC		PASS	0.647	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		15	13	15	13	---	---	---	---
KIF15	56992	broad.mit.edu	37	3	44882596	44882596	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr3:44882596C>A	ENST00000326047.4	+	29	3600	c.3451C>A	c.(3451-3453)Cat>Aat	p.H1151N	KIF15_ENST00000425755.1_Missense_Mutation_p.H786N	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1151					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.H1151N(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		CTTTCAAACACATTTGGCAAA	0.338																																						uc003cnx.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3451-3453)CAT>AAT		kinesin family member 15							69.0	72.0	71.0					3																	44882596		2203	4300	6503	SO:0001583	missense	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44882596C>A	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.3451C>A	3.37:g.44882596C>A	ENSP00000324020:p.His1151Asn					KIF15_uc010hiq.2_Missense_Mutation_p.H1054N|KIF15_uc010hir.2_Missense_Mutation_p.H199N	p.H1151N	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	29	3600	+			1151			Potential.		Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	c.3451C>A	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.279522	0.23307	.	.	ENSG00000163808	ENST00000326047;ENST00000396031;ENST00000425755	T;T	0.65364	-0.15;2.08	6.17	4.23	0.50019	.	0.246378	0.28718	N	0.014377	T	0.35711	0.0941	N	0.04508	-0.205	0.29221	N	0.873912	B	0.02656	0.0	B	0.01281	0.0	T	0.07214	-1.0784	10	0.09590	T	0.72	.	13.367	0.60689	0.2447:0.7553:0.0:0.0	.	1151	Q9NS87	KIF15_HUMAN	N	1151;1148;786	ENSP00000324020:H1151N;ENSP00000389982:H786N	ENSP00000324020:H1151N	H	+	1	0	KIF15	44857600	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.884000	0.48562	2.941000	0.99782	0.655000	0.94253	CAT		PASS	0.338	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			20	41	20	41	---	---	---	---
PHF7	51533	broad.mit.edu	37	3	52443746	52443746	+	5'Flank	SNP	C	C	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr3:52443746C>A	ENST00000327906.3	+	0	0				BAP1_ENST00000296288.5_Silent_p.L17L|PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000460680.1_Silent_p.L17L	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.L17L(1)|p.?(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CTTCCACGAGCAGGGTGAAGA	0.692																																						uc003ddx.2										N|Mis|F|S|O							uveal melanoma|breast|NSCLC		2	Unknown(1)|Substitution - coding silent(1)	p.?(1)	lung(1)|eye(1)	pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65						c.(49-51)CTG>CTT		BRCA1 associated protein-1							32.0	39.0	37.0					3																	52443746		2203	4299	6502	SO:0001631	upstream_gene_variant	8314				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52443746C>A	AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52443746C>A	Exception_encountered					PHF7_uc003ddy.2_5'Flank|PHF7_uc003ddz.2_5'Flank	p.L17L	NM_004656	NP_004647	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	2	166	-			17					K4DI82	Silent	SNP	ENST00000327906.3	37	c.51G>T	CCDS2854.1																																																																																				PASS	0.692	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		3	38	3	38	---	---	---	---
CRYBG3	131544	broad.mit.edu	37	3	97660112	97660112	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr3:97660112C>G	ENST00000182096.4	+	17	2846	c.2782C>G	c.(2782-2784)Cag>Gag	p.Q928E	CRYBG3_ENST00000485253.1_3'UTR|CRYBG3_ENST00000389622.2_Missense_Mutation_p.Q135E	NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2876							carbohydrate binding (GO:0030246)	p.Q928E(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						AAAGAATACTCAGATCTGGTA	0.433																																						uc003drx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2782-2784)CAG>GAG		beta-gamma crystallin domain containing 3							128.0	121.0	123.0					3																	97660112		1878	4094	5972	SO:0001583	missense	131544							g.chr3:97660112C>G			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.2782C>G	3.37:g.97660112C>G	ENSP00000182096:p.Gln928Glu					CRYBG3_uc010hoz.1_RNA	p.Q928E	NM_153605	NP_705833					17	2846	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37	c.2782C>G		.	.	.	.	.	.	.	.	.	.	C	23.9	4.466139	0.84425	.	.	ENSG00000080200	ENST00000182096;ENST00000389622	T;T	0.62232	0.04;0.04	6.07	6.07	0.98685	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.64402	D	0.000007	D	0.83769	0.5326	M	0.88031	2.925	0.47994	D	0.999561	D	0.69078	0.997	D	0.79108	0.992	D	0.85287	0.1065	10	0.87932	D	0	.	20.6525	0.99598	0.0:1.0:0.0:0.0	.	928	Q68DQ2	CRBG3_HUMAN	E	928;135	ENSP00000182096:Q928E;ENSP00000374273:Q135E	ENSP00000182096:Q928E	Q	+	1	0	CRYBG3	99142802	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	4.989000	0.63870	2.890000	0.99128	0.585000	0.79938	CAG		PASS	0.433	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		52	218	52	218	---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124351436	124351436	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr3:124351436G>T	ENST00000291478.5	+	2	418	c.255G>T	c.(253-255)aaG>aaT	p.K85N	KALRN_ENST00000360013.3_Missense_Mutation_p.K1782N|KALRN_ENST00000428018.2_Missense_Mutation_p.K85N|KALRN_ENST00000393496.1_Missense_Mutation_p.K155N	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1782	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K85N(1)|p.K1782N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ACAGCGGGAAGGCAGATGGAA	0.557																																						uc003ehg.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(5344-5346)AAG>AAT		kalirin, RhoGEF kinase isoform 1							77.0	82.0	80.0					3																	124351436		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124351436G>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.255G>T	3.37:g.124351436G>T	ENSP00000291478:p.Lys85Asn					KALRN_uc003ehi.2_Missense_Mutation_p.K155N|KALRN_uc003ehk.2_Missense_Mutation_p.K85N|KALRN_uc003ehj.2_Missense_Mutation_p.K85N	p.K1782N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			35	5473	+			1782					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.5346G>T	CCDS3028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.83|17.83	3.485532|3.485532	0.63962|0.63962	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000393496;ENST00000291478;ENST00000454902;ENST00000428018|ENST00000354186	T;T;T;T|.	0.66995|.	-0.1;0.27;-0.05;-0.24|.	5.04|5.04	-8.75|-8.75	0.00834|0.00834	.|.	0.115150|.	0.64402|.	D|.	0.000015|.	T|T	0.59307|0.59307	0.2184|0.2184	L|L	0.41492|0.41492	1.28|1.28	0.80722|0.80722	D|D	1|1	P;D;D|.	0.57899|.	0.935;0.972;0.981|.	B;P;D|.	0.67231|.	0.422;0.742;0.95|.	T|T	0.64449|0.64449	-0.6405|-0.6405	10|5	0.87932|.	D|.	0|.	.|.	19.7246|19.7246	0.96160|0.96160	0.2088:0.0:0.7912:0.0|0.2088:0.0:0.7912:0.0	.|.	85;155;1782|.	C9JQ37;O60229-5;O60229|.	.;.;KALRN_HUMAN|.	N|M	1782;155;85;85;85|1751	ENSP00000353109:K1782N;ENSP00000377134:K155N;ENSP00000291478:K85N;ENSP00000402419:K85N|.	ENSP00000291478:K85N|.	K|R	+|+	3|2	2|0	KALRN|KALRN	125834126|125834126	0.971000|0.971000	0.33674|0.33674	0.584000|0.584000	0.28653|0.28653	0.712000|0.712000	0.41017|0.41017	0.360000|0.360000	0.20250|0.20250	-1.615000|-1.615000	0.01573|0.01573	-1.531000|-1.531000	0.00922|0.00922	AAG|AGG		PASS	0.557	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		62	123	62	123	---	---	---	---
TRIM42	287015	broad.mit.edu	37	3	140407277	140407277	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr3:140407277C>A	ENST00000286349.3	+	3	1944	c.1753C>A	c.(1753-1755)Cag>Aag	p.Q585K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	585						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Q585K(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCAGTCTGTACAGAACAGCAG	0.577																																						uc003eto.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						c.(1753-1755)CAG>AAG		tripartite motif-containing 42							94.0	94.0	94.0					3																	140407277		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140407277C>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1753C>A	3.37:g.140407277C>A	ENSP00000286349:p.Gln585Lys						p.Q585K	NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN			3	1944	+			585					A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.1753C>A	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637740	0.29157	.	.	ENSG00000155890	ENST00000286349	T	0.37411	1.2	5.52	3.64	0.41730	.	5.666690	0.00698	N	0.000767	T	0.31949	0.0813	L	0.27053	0.805	0.21984	N	0.999436	B	0.27823	0.19	B	0.21360	0.034	T	0.35151	-0.9800	10	0.39692	T	0.17	-27.3235	12.4809	0.55842	0.0:0.6774:0.3226:0.0	.	585	Q8IWZ5	TRI42_HUMAN	K	585	ENSP00000286349:Q585K	ENSP00000286349:Q585K	Q	+	1	0	TRIM42	141889967	0.409000	0.25368	0.296000	0.24974	0.835000	0.47333	0.884000	0.28214	0.737000	0.32582	0.655000	0.94253	CAG		PASS	0.577	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		71	123	71	123	---	---	---	---
PEX5L	51555	broad.mit.edu	37	3	179616027	179616027	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr3:179616027C>T	ENST00000467460.1	-	3	431	c.101G>A	c.(100-102)gGc>gAc	p.G34D	PEX5L_ENST00000472994.1_Intron|PEX5L_ENST00000464614.1_5'UTR|PEX5L_ENST00000392649.3_5'Flank|PEX5L_ENST00000263962.8_Missense_Mutation_p.G32D|PEX5L_ENST00000468741.1_Intron|PEX5L_ENST00000485199.1_Intron|PEX5L_ENST00000476138.1_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.G10D|PEX5L-AS2_ENST00000462801.1_RNA	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	34					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)	p.G34D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CGCCCTAGAGCCTTTTCCCTA	0.418																																						uc003fki.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(100-102)GGC>GAC		peroxisomal biogenesis factor 5-like							92.0	89.0	90.0					3																	179616027		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179616027C>T	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.101G>A	3.37:g.179616027C>T	ENSP00000419975:p.Gly34Asp					PEX5L_uc011bqd.1_5'UTR|PEX5L_uc011bqe.1_Intron|PEX5L_uc011bqf.1_5'UTR|PEX5L_uc003fkj.1_Intron|PEX5L_uc010hxd.1_Missense_Mutation_p.G32D|PEX5L_uc011bqg.1_Missense_Mutation_p.G10D|PEX5L_uc011bqh.1_Intron	p.G34D	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		3	231	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		34					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.101G>A	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.129491	0.37630	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000382596;ENST00000465751;ENST00000463761	D;D;D	0.86694	-2.13;-2.14;-2.16	5.58	5.58	0.84498	.	0.433846	0.27117	N	0.020857	T	0.76492	0.3995	N	0.04508	-0.205	0.80722	D	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.08055	0.001;0.003;0.002	T	0.69172	-0.5215	10	0.35671	T	0.21	-9.1552	19.9261	0.97102	0.0:1.0:0.0:0.0	.	10;32;34	E9PH97;Q8IYB4-2;Q8IYB4	.;.;PEX5R_HUMAN	D	34;32;32;10;58	ENSP00000419975:G34D;ENSP00000263962:G32D;ENSP00000419348:G10D	ENSP00000263962:G32D	G	-	2	0	PEX5L	181098721	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.562000	0.60816	2.789000	0.95967	0.655000	0.94253	GGC		PASS	0.418	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		80	160	80	160	---	---	---	---
IDUA	3425	broad.mit.edu	37	4	995294	995294	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr4:995294G>A	ENST00000247933.4	+	5	620	c.532G>A	c.(532-534)Gag>Aag	p.E178K	IDUA_ENST00000453894.1_Missense_Mutation_p.E131K|IDUA_ENST00000514224.1_Missense_Mutation_p.E46K	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	178			E -> K (in MPS1H/S). {ECO:0000269|PubMed:21394825}.		carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)	p.E178K(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GTGGAACTTCGAGACGTGGAA	0.597																																						uc003gby.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)		0	GRCh37	CM022023	IDUA	M		c.(532-534)GAG>AAG		alpha-L-iduronidase precursor	Laronidase(DB00090)						209.0	154.0	173.0					4																	995294		2203	4300	6503	SO:0001583	missense	3425				disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity	g.chr4:995294G>A	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.532G>A	4.37:g.995294G>A	ENSP00000247933:p.Glu178Lys					IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Missense_Mutation_p.E131K	p.E178K	NM_000203	NP_000194	P35475	IDUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		5	620	+			178					B3KWK6	Missense_Mutation	SNP	ENST00000247933.4	37	c.532G>A	CCDS3343.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298884	0.81025	.	.	ENSG00000127415	ENST00000247933;ENST00000453894;ENST00000502910;ENST00000514192;ENST00000509948;ENST00000514224	D;D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13;-4.13	4.58	3.74	0.42951	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.165662	0.52532	D	0.000072	D	0.98040	0.9354	M	0.86420	2.815	0.33421	D	0.579818	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.99953	1.1584	10	0.87932	D	0	-14.0032	12.8659	0.57939	0.0:0.1655:0.8345:0.0	.	131;178	B3KWK6;P35475	.;IDUA_HUMAN	K	178;131;131;117;109;46	ENSP00000247933:E178K;ENSP00000396458:E131K;ENSP00000422952:E131K;ENSP00000423685:E117K;ENSP00000424227:E109K;ENSP00000425081:E46K	ENSP00000247933:E178K	E	+	1	0	IDUA	985294	1.000000	0.71417	0.985000	0.45067	0.470000	0.32858	7.738000	0.84966	1.053000	0.40415	-0.225000	0.12378	GAG		PASS	0.597	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203		40	135	40	135	---	---	---	---
IDUA	3425	broad.mit.edu	37	4	995327	995327	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr4:995327G>C	ENST00000247933.4	+	5	653	c.565G>C	c.(565-567)Gac>Cac	p.D189H	IDUA_ENST00000453894.1_Missense_Mutation_p.D142H|IDUA_ENST00000514224.1_Missense_Mutation_p.D57H	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	189					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)	p.D189H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCACGACTTTGACAACGTCTC	0.602																																						uc003gby.2																			1	Substitution - Missense(1)		lung(1)		0						c.(565-567)GAC>CAC		alpha-L-iduronidase precursor	Laronidase(DB00090)						186.0	142.0	157.0					4																	995327		2202	4299	6501	SO:0001583	missense	3425				disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity	g.chr4:995327G>C	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.565G>C	4.37:g.995327G>C	ENSP00000247933:p.Asp189His					IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Missense_Mutation_p.D142H	p.D189H	NM_000203	NP_000194	P35475	IDUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		5	653	+			189					B3KWK6	Missense_Mutation	SNP	ENST00000247933.4	37	c.565G>C	CCDS3343.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.8|28.8	4.948137|4.948137	0.92593|0.92593	.|.	.|.	ENSG00000127415|ENSG00000127415	ENST00000247933;ENST00000453894;ENST00000502910;ENST00000514192;ENST00000509948;ENST00000514224|ENST00000504568	D;D;D;D;D;D|.	0.94966|.	-3.57;-3.57;-3.57;-3.57;-3.57;-3.57|.	4.58|4.58	4.58|4.58	0.56647|0.56647	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);|.	0.107344|.	0.64402|.	D|.	0.000006|.	T|T	0.76407|0.76407	0.3983|0.3983	M|M	0.81239|0.81239	2.535|2.535	0.42308|0.42308	D|D	0.9922|0.9922	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.998|.	T|T	0.79152|0.79152	-0.1921|-0.1921	10|5	0.39692|.	T|.	0.17|.	-24.2936|-24.2936	15.2325|15.2325	0.73401|0.73401	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	142;189|.	B3KWK6;P35475|.	.;IDUA_HUMAN|.	H|F	189;142;142;128;120;57|175	ENSP00000247933:D189H;ENSP00000396458:D142H;ENSP00000422952:D142H;ENSP00000423685:D128H;ENSP00000424227:D120H;ENSP00000425081:D57H|.	ENSP00000247933:D189H|.	D|L	+|+	1|3	0|2	IDUA|IDUA	985327|985327	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.982000|0.982000	0.71751|0.71751	7.700000|7.700000	0.84556|0.84556	2.247000|2.247000	0.74100|0.74100	0.561000|0.561000	0.74099|0.74099	GAC|TTG		PASS	0.602	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203		39	107	39	107	---	---	---	---
DRD5	1816	broad.mit.edu	37	4	9784478	9784478	+	Missense_Mutation	SNP	C	C	A	rs201762034		TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr4:9784478C>A	ENST00000304374.2	+	1	1221	c.825C>A	c.(823-825)agC>agA	p.S275R		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	275					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.S275R(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GCCGGAGCAGCGCAGCCTGCG	0.637																																						uc003gmb.3																			2	Substitution - Missense(2)		prostate(1)|lung(1)	skin(1)	1						c.(823-825)AGC>AGA		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						24.0	23.0	23.0					4																	9784478		2200	4286	6486	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784478C>A	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.825C>A	4.37:g.9784478C>A	ENSP00000306129:p.Ser275Arg						p.S275R	NM_000798	NP_000789	P21918	DRD5_HUMAN			1	1221	+			275			Cytoplasmic (Potential).		B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.825C>A	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	c	3.108	-0.183303	0.06340	.	.	ENSG00000169676	ENST00000304374	T	0.68624	-0.34	4.6	-3.74	0.04385	GPCR, rhodopsin-like superfamily (1);	2.577270	0.01820	N	0.034008	T	0.47637	0.1456	L	0.33137	0.985	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.08597	-1.0714	10	0.18710	T	0.47	.	0.5996	0.00742	0.329:0.2707:0.11:0.2903	.	275	P21918	DRD5_HUMAN	R	275	ENSP00000306129:S275R	ENSP00000306129:S275R	S	+	3	2	DRD5	9393576	0.000000	0.05858	0.001000	0.08648	0.730000	0.41778	-0.494000	0.06451	-0.695000	0.05105	0.305000	0.20034	AGC		PASS	0.637	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			8	65	8	65	---	---	---	---
TECRL	253017	broad.mit.edu	37	4	65275039	65275039	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr4:65275039C>T	ENST00000381210.3	-	1	141	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	TECRL_ENST00000507440.1_Missense_Mutation_p.E11K	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	11					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	p.E11K(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CTCTTGCGTTCCGAAGCGAGG	0.418																																						uc003hcv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(31-33)GAA>AAA		steroid 5 alpha-reductase 2-like 2							123.0	124.0	124.0					4																	65275039		2203	4300	6503	SO:0001583	missense	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65275039C>T	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.31G>A	4.37:g.65275039C>T	ENSP00000370607:p.Glu11Lys					TECRL_uc003hcw.2_Missense_Mutation_p.E11K	p.E11K	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN			1	140	-			11						Missense_Mutation	SNP	ENST00000381210.3	37	c.31G>A	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.305513	0.23736	.	.	ENSG00000205678	ENST00000507440;ENST00000381210;ENST00000509536	T;T;T	0.44881	0.91;0.91;0.91	5.16	4.3	0.51218	.	0.295705	0.28977	N	0.013522	T	0.32941	0.0846	L	0.41027	1.25	0.25645	N	0.986153	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.001	T	0.16364	-1.0405	10	0.48119	T	0.1	-4.5265	10.4292	0.44398	0.0:0.9085:0.0:0.0915	.	11;11	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	K	11	ENSP00000426043:E11K;ENSP00000370607:E11K;ENSP00000422497:E11K	ENSP00000370607:E11K	E	-	1	0	TECRL	64957634	0.971000	0.33674	0.991000	0.47740	0.121000	0.20230	3.256000	0.51492	2.569000	0.86673	0.650000	0.86243	GAA		PASS	0.418	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		101	86	101	86	---	---	---	---
PDE5A	8654	broad.mit.edu	37	4	120419875	120419875	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr4:120419875C>T	ENST00000354960.3	-	21	2828	c.2509G>A	c.(2509-2511)Gag>Aag	p.E837K	PDE5A_ENST00000264805.5_Missense_Mutation_p.E795K|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000394439.1_Missense_Mutation_p.E785K	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	837	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.E837K(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	AAACAGTCCTCTGACACGTGG	0.502																																						uc003idh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2509-2511)GAG>AAG		phosphodiesterase 5A isoform 1	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						93.0	92.0	92.0					4																	120419875		2203	4300	6503	SO:0001583	missense	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120419875C>T	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.2509G>A	4.37:g.120419875C>T	ENSP00000347046:p.Glu837Lys					uc003ide.3_Intron|PDE5A_uc003idf.2_Missense_Mutation_p.E795K|PDE5A_uc003idg.2_Missense_Mutation_p.E785K	p.E837K	NM_001083	NP_001074	O76074	PDE5A_HUMAN			21	2664	-			837			Catalytic (By similarity).		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	c.2509G>A	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466158	0.43839	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	D;D;D	0.82526	-1.62;-1.62;-1.62	5.31	4.47	0.54385	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.150726	0.64402	N	0.000016	D	0.82660	0.5085	L	0.43598	1.365	0.80722	D	1	B;D	0.54601	0.287;0.967	B;P	0.51806	0.261;0.68	T	0.81293	-0.0998	10	0.35671	T	0.21	.	13.9636	0.64196	0.0:0.9268:0.0:0.0732	.	837;795	O76074;O76074-2	PDE5A_HUMAN;.	K	837;785;795	ENSP00000347046:E837K;ENSP00000377957:E785K;ENSP00000264805:E795K	ENSP00000264805:E795K	E	-	1	0	PDE5A	120639323	0.842000	0.29525	0.828000	0.32881	0.819000	0.46315	1.805000	0.38883	1.234000	0.43709	0.467000	0.42956	GAG		PASS	0.502	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083		4	155	4	155	---	---	---	---
RXFP1	59350	broad.mit.edu	37	4	159559192	159559192	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr4:159559192A>G	ENST00000307765.5	+	13	1255	c.1004A>G	c.(1003-1005)cAa>cGa	p.Q335R	RXFP1_ENST00000343542.5_Intron|RXFP1_ENST00000470033.1_Missense_Mutation_p.Q302R|RXFP1_ENST00000460056.2_Missense_Mutation_p.Q254R|RXFP1_ENST00000448688.2_Missense_Mutation_p.Q230R	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	335					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)	p.Q335R(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CAGAAAATTCAAGCAAACCAA	0.289																																						uc003ipz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1003-1005)CAA>CGA		relaxin/insulin-like family peptide receptor 1							54.0	55.0	55.0					4																	159559192		1786	4052	5838	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159559192A>G	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.1004A>G	4.37:g.159559192A>G	ENSP00000303248:p.Gln335Arg					RXFP1_uc010iqj.1_Missense_Mutation_p.Q164R|RXFP1_uc011cja.1_Missense_Mutation_p.Q230R|RXFP1_uc010iqo.2_Intron|RXFP1_uc011cjb.1_Intron|RXFP1_uc010iqk.2_Missense_Mutation_p.Q203R|RXFP1_uc011cjc.1_Missense_Mutation_p.Q254R|RXFP1_uc011cjd.1_Missense_Mutation_p.Q254R|RXFP1_uc010iql.2_Missense_Mutation_p.Q179R|RXFP1_uc011cje.1_Missense_Mutation_p.Q362R|RXFP1_uc010iqm.2_Missense_Mutation_p.Q302R|RXFP1_uc011cjf.1_Missense_Mutation_p.Q205R|RXFP1_uc010iqn.2_Missense_Mutation_p.Q281R	p.Q335R	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	13	1086	+	all_hematologic(180;0.24)	Renal(120;0.0854)	335			Extracellular (Potential).|LRR 8.		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.1004A>G	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	A	11.15	1.554353	0.27739	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000470033;ENST00000440678	T;T;T;T	0.04360	3.64;3.64;4.33;3.64	5.36	2.86	0.33363	.	0.415060	0.29046	N	0.013313	T	0.04679	0.0127	L	0.45051	1.395	0.28123	N	0.930528	B;B;B;B;B;B;B	0.11235	0.004;0.002;0.002;0.001;0.002;0.002;0.001	B;B;B;B;B;B;B	0.15870	0.014;0.014;0.009;0.005;0.005;0.014;0.002	T	0.36114	-0.9761	10	0.24483	T	0.36	.	7.8134	0.29245	0.788:0.1396:0.0724:0.0	.	346;362;230;302;254;205;335	B3KV27;B4DGP2;B4DHD1;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;RXFP1_HUMAN	R	254;335;230;302;205	ENSP00000423306:Q254R;ENSP00000303248:Q335R;ENSP00000414885:Q230R;ENSP00000420712:Q302R	ENSP00000303248:Q335R	Q	+	2	0	RXFP1	159778642	1.000000	0.71417	0.982000	0.44146	0.989000	0.77384	4.671000	0.61590	0.323000	0.23307	0.482000	0.46254	CAA		PASS	0.289	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		18	62	18	62	---	---	---	---
ZFP42	132625	broad.mit.edu	37	4	188924632	188924632	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr4:188924632A>G	ENST00000326866.4	+	4	1079	c.671A>G	c.(670-672)aAa>aGa	p.K224R	ZFP42_ENST00000509524.1_Missense_Mutation_p.K224R	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	224					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K224R(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAATGTGGGAAAGCGTTCGTT	0.507																																						uc003izg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(670-672)AAA>AGA		zinc finger protein 42							122.0	127.0	125.0					4																	188924632		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924632A>G	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.671A>G	4.37:g.188924632A>G	ENSP00000317686:p.Lys224Arg					ZFP42_uc003izh.1_Missense_Mutation_p.K224R|ZFP42_uc003izi.1_Missense_Mutation_p.K224R	p.K224R	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	916	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	224			C2H2-type 2.		D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.671A>G	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	A	12.82	2.052520	0.36181	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.52754	0.65;0.65	4.39	-4.65	0.03339	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.198399	0.41294	N	0.000907	T	0.34861	0.0912	L	0.45137	1.4	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.23368	-1.0190	10	0.66056	D	0.02	.	12.7699	0.57415	0.4431:0.0:0.5569:0.0	.	224	Q96MM3	ZFP42_HUMAN	R	224	ENSP00000317686:K224R;ENSP00000424662:K224R	ENSP00000317686:K224R	K	+	2	0	ZFP42	189161626	0.942000	0.31987	0.000000	0.03702	0.011000	0.07611	1.946000	0.40283	-0.969000	0.03573	0.533000	0.62120	AAA		PASS	0.507	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		28	104	28	104	---	---	---	---
PLCXD3	345557	broad.mit.edu	37	5	41313840	41313840	+	Missense_Mutation	SNP	G	G	T	rs144321987	byFrequency	TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr5:41313840G>T	ENST00000377801.3	-	3	919	c.845C>A	c.(844-846)aCg>aAg	p.T282K	PLCXD3_ENST00000328457.3_Missense_Mutation_p.T282K			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	282					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.T282K(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TGGCTTCTGCGTGCGGACCCA	0.423																																						uc003jmm.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						c.(844-846)ACG>AAG		phosphatidylinositol-specific phospholipase C, X							84.0	78.0	80.0					5																	41313840		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41313840G>T		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.845C>A	5.37:g.41313840G>T	ENSP00000367032:p.Thr282Lys						p.T282K	NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN			3	947	-			282					A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.845C>A	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726863	0.30593	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	5.65	5.65	0.86999	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.055860	0.64402	D	0.000001	T	0.30448	0.0765	N	0.04880	-0.145	0.58432	D	0.999998	B	0.32160	0.358	B	0.26770	0.073	T	0.25745	-1.0123	9	0.07482	T	0.82	-4.4632	19.7362	0.96205	0.0:0.0:1.0:0.0	.	282	Q63HM9	PLCX3_HUMAN	K	282	.	ENSP00000333751:T282K	T	-	2	0	PLCXD3	41349597	1.000000	0.71417	0.962000	0.40283	0.969000	0.65631	6.369000	0.73109	2.678000	0.91216	0.655000	0.94253	ACG		PASS	0.423	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		33	25	33	25	---	---	---	---
FNIP1	96459	broad.mit.edu	37	5	131008213	131008213	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr5:131008213C>A	ENST00000510461.1	-	14	2019	c.1924G>T	c.(1924-1926)Gga>Tga	p.G642*	FNIP1_ENST00000307968.7_Nonsense_Mutation_p.G614*|FNIP1_ENST00000307954.8_Nonsense_Mutation_p.G597*|CTC-432M15.3_ENST00000514667.1_Intron	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	642					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.G642*(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TCTGAAATTCCTAGCAGCTCC	0.373																																						uc003kvs.1																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1924-1926)GGA>TGA		folliculin interacting protein 1 isoform 1							113.0	119.0	117.0					5																	131008213		2203	4300	6503	SO:0001587	stop_gained	96459				regulation of protein phosphorylation	cytoplasm	protein binding	g.chr5:131008213C>A	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1924G>T	5.37:g.131008213C>A	ENSP00000421985:p.Gly642*					RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Nonsense_Mutation_p.G614*|FNIP1_uc010jdm.1_Nonsense_Mutation_p.G597*	p.G642*	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	14	2066	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	642					D6RJH5|Q86T47|Q9BUT0	Nonsense_Mutation	SNP	ENST00000510461.1	37	c.1924G>T	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910090	0.92107	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461	.	.	.	5.97	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-2.0634	15.0728	0.72053	0.0:0.9322:0.0:0.0678	.	.	.	.	X	614;597;394;642	.	ENSP00000310453:G597X	G	-	1	0	FNIP1	131036112	1.000000	0.71417	0.702000	0.30337	0.810000	0.45777	4.710000	0.61873	1.525000	0.49052	0.655000	0.94253	GGA		PASS	0.373	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		173	159	173	159	---	---	---	---
AFF4	27125	broad.mit.edu	37	5	132232283	132232283	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr5:132232283G>T	ENST00000265343.5	-	11	2418	c.2039C>A	c.(2038-2040)tCa>tAa	p.S680*	AFF4_ENST00000378595.3_Nonsense_Mutation_p.S680*	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	680					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S680*(1)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCCTCCACTGAGGAGGGTTT	0.478																																					Ovarian(126;889 1733 2942 10745 11605)	uc003kyd.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|kidney(2)|skin(1)	5						c.(2038-2040)TCA>TAA		ALL1 fused gene from 5q31							94.0	96.0	95.0					5																	132232283		2203	4300	6503	SO:0001587	stop_gained	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132232283G>T	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.2039C>A	5.37:g.132232283G>T	ENSP00000265343:p.Ser680*					AFF4_uc011cxk.1_Nonsense_Mutation_p.S358*|AFF4_uc003kye.1_Nonsense_Mutation_p.S680*	p.S680*	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	2447	-		all_cancers(142;0.145)|Breast(839;0.198)	680					B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Nonsense_Mutation	SNP	ENST00000265343.5	37	c.2039C>A	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	G	38	6.921384	0.97936	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	.	.	.	4.9	4.9	0.64082	.	0.162987	0.42682	D	0.000662	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9817	13.9334	0.64010	0.0:0.0:1.0:0.0	.	.	.	.	X	680	.	ENSP00000265343:S680X	S	-	2	0	AFF4	132260182	1.000000	0.71417	0.994000	0.49952	0.638000	0.38207	5.443000	0.66581	2.417000	0.82017	0.563000	0.77884	TCA		PASS	0.478	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		90	67	90	67	---	---	---	---
PCDHB3	56132	broad.mit.edu	37	5	140481455	140481455	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr5:140481455G>A	ENST00000231130.2	+	1	1222	c.1222G>A	c.(1222-1224)Gcg>Acg	p.A408T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	408	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A408T(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCAGAAGGCGCGCTGGACAG	0.483																																						uc003lio.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1222-1224)GCG>ACG		protocadherin beta 3 precursor							78.0	76.0	76.0					5																	140481455		2203	4300	6503	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481455G>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1222G>A	5.37:g.140481455G>A	ENSP00000231130:p.Ala408Thr					uc003lin.2_Intron	p.A408T	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1222	+			408			Extracellular (Potential).|Cadherin 4.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1222G>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	2.109	-0.404203	0.04832	.	.	ENSG00000113205	ENST00000231130	T	0.52754	0.65	4.39	1.44	0.22558	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.35799	0.0944	L	0.49350	1.555	0.09310	N	1	B	0.21821	0.061	B	0.21917	0.037	T	0.28138	-1.0053	9	0.26408	T	0.33	.	3.4283	0.07418	0.1506:0.3669:0.3575:0.125	.	408	Q9Y5E6	PCDB3_HUMAN	T	408	ENSP00000231130:A408T	ENSP00000231130:A408T	A	+	1	0	PCDHB3	140461639	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-3.423000	0.00476	0.049000	0.15920	0.655000	0.94253	GCG		PASS	0.483	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		37	74	37	74	---	---	---	---
PCDHB10	56126	broad.mit.edu	37	5	140573030	140573030	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr5:140573030T>G	ENST00000239446.4	+	1	1089	c.905T>G	c.(904-906)tTt>tGt	p.F302C		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	302	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F302C(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGGAAATCTTTCTCAGAGAA	0.373																																						uc003lix.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(904-906)TTT>TGT		protocadherin beta 10 precursor							54.0	60.0	58.0					5																	140573030		2202	4300	6502	SO:0001583	missense	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573030T>G	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.905T>G	5.37:g.140573030T>G	ENSP00000239446:p.Phe302Cys						p.F302C	NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1079	+			302			Extracellular (Potential).|Cadherin 3.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.905T>G	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	T	9.099	1.003761	0.19199	.	.	ENSG00000120324	ENST00000239446	T	0.01725	4.67	3.41	-1.54	0.08584	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.03434	0.0099	L	0.35644	1.08	0.09310	N	1	P	0.44521	0.837	P	0.56343	0.796	T	0.44236	-0.9341	9	0.62326	D	0.03	.	5.4441	0.16524	0.0:0.4421:0.3581:0.1999	.	302	Q9UN67	PCDBA_HUMAN	C	302	ENSP00000239446:F302C	ENSP00000239446:F302C	F	+	2	0	PCDHB10	140553214	0.000000	0.05858	0.002000	0.10522	0.982000	0.71751	-4.046000	0.00306	-0.010000	0.14271	0.454000	0.30748	TTT		PASS	0.373	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		43	97	43	97	---	---	---	---
PCDHGB2	56103	broad.mit.edu	37	5	140740522	140740522	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr5:140740522A>C	ENST00000522605.1	+	1	820	c.820A>C	c.(820-822)Aac>Cac	p.N274H	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	274	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N274H(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGGCATAAACGCAGAGAT	0.478																																						uc003ljs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(820-822)AAC>CAC		protocadherin gamma subfamily B, 2 isoform 1							50.0	51.0	51.0					5																	140740522		1991	4157	6148	SO:0001583	missense	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140740522A>C	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.820A>C	5.37:g.140740522A>C	ENSP00000429018:p.Asn274His					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc011dar.1_Missense_Mutation_p.N274H	p.N274H	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	820	+			274			Extracellular (Potential).|Cadherin 3.		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.820A>C	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	10.56	1.383089	0.25031	.	.	ENSG00000253910	ENST00000522605	T	0.59502	0.26	5.54	4.3	0.51218	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.69540	0.3122	M	0.83692	2.655	0.23685	N	0.997111	P;P	0.45011	0.817;0.848	P;P	0.50825	0.519;0.651	T	0.63541	-0.6614	9	0.62326	D	0.03	.	11.4601	0.50206	0.8652:0.0:0.0:0.1348	.	274;274	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	H	274	ENSP00000429018:N274H	ENSP00000429018:N274H	N	+	1	0	PCDHGB2	140720706	0.999000	0.42202	0.069000	0.20011	0.003000	0.03518	4.227000	0.58612	2.223000	0.72356	0.533000	0.62120	AAC		PASS	0.478	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		14	47	14	47	---	---	---	---
PPARGC1B	133522	broad.mit.edu	37	5	149213089	149213089	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr5:149213089G>T	ENST00000309241.5	+	5	1485	c.1453G>T	c.(1453-1455)Gag>Tag	p.E485*	PPARGC1B_ENST00000394320.3_Nonsense_Mutation_p.E485*|PPARGC1B_ENST00000360453.4_Nonsense_Mutation_p.E446*|PPARGC1B_ENST00000403750.1_Nonsense_Mutation_p.E421*	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	485					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)	p.E485*(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ACTGAACCCTGAGCTGGGCCC	0.662																																						uc003lrc.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1453-1455)GAG>TAG		peroxisome proliferator-activated receptor							37.0	39.0	38.0					5																	149213089		2186	4290	6476	SO:0001587	stop_gained	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149213089G>T	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.1453G>T	5.37:g.149213089G>T	ENSP00000312649:p.Glu485*					PPARGC1B_uc003lrb.1_Nonsense_Mutation_p.E485*|PPARGC1B_uc003lrd.2_Nonsense_Mutation_p.E446*|PPARGC1B_uc003lrf.2_Nonsense_Mutation_p.E464*|PPARGC1B_uc003lre.1_Nonsense_Mutation_p.E464*	p.E485*	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		5	1495	+			485					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Nonsense_Mutation	SNP	ENST00000309241.5	37	c.1453G>T	CCDS4298.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.930036|6.930036	0.97944|0.97944	.|.	.|.	ENSG00000155846|ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750|ENST00000434684	.|.	.|.	.|.	5.38|5.38	3.55|3.55	0.40652|0.40652	.|.	0.291899|.	0.33477|.	N|.	0.004866|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.66056|.	D|.	0.02|.	-5.5268|-5.5268	9.6081|9.6081	0.39645|0.39645	0.0757:0.141:0.7833:0.0|0.0757:0.141:0.7833:0.0	.|.	.|.	.|.	.|.	X|L	446;485;485;421|171	.|.	ENSP00000312649:E485X|.	E|X	+|+	1|2	0|2	PPARGC1B|PPARGC1B	149193282|149193282	0.995000|0.995000	0.38212|0.38212	0.761000|0.761000	0.31378|0.31378	0.968000|0.968000	0.65278|0.65278	2.453000|2.453000	0.44970|0.44970	0.610000|0.610000	0.30035|0.30035	0.462000|0.462000	0.41574|0.41574	GAG|TGA		PASS	0.662	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		7	1	7	1	---	---	---	---
CCNJL	79616	broad.mit.edu	37	5	159680620	159680620	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr5:159680620C>A	ENST00000393977.3	-	7	1358	c.1073G>T	c.(1072-1074)cGg>cTg	p.R358L	CCNJL_ENST00000257536.7_Missense_Mutation_p.R310L|CCNJL_ENST00000377503.2_5'UTR	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	358						nucleus (GO:0005634)		p.R358L(1)		endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAAGGAGTCCCGATAGGCCAA	0.647																																						uc003lyb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1072-1074)CGG>CTG		cyclin J-like							48.0	55.0	53.0					5																	159680620		2034	4178	6212	SO:0001583	missense	79616					nucleus		g.chr5:159680620C>A	BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.1073G>T	5.37:g.159680620C>A	ENSP00000377547:p.Arg358Leu					CCNJL_uc011dee.1_Missense_Mutation_p.R310L|CCNJL_uc003lyc.1_RNA	p.R358L	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	1325	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	358					Q6ZN43|Q9H7W8	Missense_Mutation	SNP	ENST00000393977.3	37	c.1073G>T	CCDS4350.2	.	.	.	.	.	.	.	.	.	.	C	13.18	2.161255	0.38119	.	.	ENSG00000135083	ENST00000393977;ENST00000257536	T;T	0.33438	1.83;1.41	5.2	4.33	0.51752	.	0.261961	0.35407	N	0.003221	T	0.32526	0.0832	L	0.55481	1.735	0.80722	D	1	P;D	0.56968	0.507;0.978	B;P	0.44623	0.369;0.455	T	0.15578	-1.0432	10	0.87932	D	0	-18.8932	11.4912	0.50381	0.0:0.9159:0.0:0.0841	.	310;358	B4DZA8;Q8IV13	.;CCNJL_HUMAN	L	358;310	ENSP00000377547:R358L;ENSP00000257536:R310L	ENSP00000257536:R310L	R	-	2	0	CCNJL	159613198	1.000000	0.71417	0.937000	0.37676	0.182000	0.23217	2.869000	0.48444	1.190000	0.43042	0.655000	0.94253	CGG		PASS	0.647	CCNJL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252674.1	NM_024565		52	35	52	35	---	---	---	---
PRPF4B	8899	broad.mit.edu	37	6	4032628	4032628	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr6:4032628A>G	ENST00000337659.6	+	2	977	c.877A>G	c.(877-879)Aga>Gga	p.R293G	PRPF4B_ENST00000538861.1_Missense_Mutation_p.R279G	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	293	Arg/Lys-rich (basic).				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R293G(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TAAAAAATCCAGATCCCCAGT	0.338																																						uc003mvv.2																			1	Substitution - Missense(1)		lung(1)	breast(5)	5						c.(877-879)AGA>GGA		serine/threonine-protein kinase PRP4K							74.0	82.0	79.0					6																	4032628		2201	4300	6501	SO:0001583	missense	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4032628A>G	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.877A>G	6.37:g.4032628A>G	ENSP00000337194:p.Arg293Gly					PRPF4B_uc011dhv.1_RNA	p.R293G	NM_003913	NP_003904	Q13523	PRP4B_HUMAN			2	968	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	293			Arg/Lys-rich (basic).		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	c.877A>G	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	A	9.653	1.142174	0.21205	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.67171	-0.24;-0.25	5.9	2.09	0.27110	.	0.142017	0.47852	D	0.000211	T	0.27559	0.0677	N	0.19112	0.55	0.33614	D	0.603974	B	0.02656	0.0	B	0.01281	0.0	T	0.02676	-1.1125	10	0.36615	T	0.2	.	8.4455	0.32838	0.6889:0.2473:0.0638:0.0	.	293	Q13523	PRP4B_HUMAN	G	293;279	ENSP00000337194:R293G;ENSP00000439331:R279G	ENSP00000337194:R293G	R	+	1	2	PRPF4B	3977627	1.000000	0.71417	0.959000	0.39883	0.169000	0.22640	2.666000	0.46799	0.117000	0.18138	-0.263000	0.10527	AGA		PASS	0.338	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			54	103	54	103	---	---	---	---
SLC17A2	10246	broad.mit.edu	37	6	25917239	25917239	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr6:25917239A>T	ENST00000265425.3	-	6	746	c.726T>A	c.(724-726)agT>agA	p.S242R	SLC17A2_ENST00000360488.3_Missense_Mutation_p.S242R|SLC17A2_ENST00000377850.3_Missense_Mutation_p.S242R			O00624	NPT3_HUMAN	solute carrier family 17, member 2	242					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.S242R(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						TTTCCCTAACACTTATGCACG	0.512																																						uc011dkb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(724-726)AGT>AGA		SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2;							141.0	115.0	124.0					6																	25917239		2203	4300	6503	SO:0001583	missense	10246				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25917239A>T	U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.726T>A	6.37:g.25917239A>T	ENSP00000265425:p.Ser242Arg					SLC17A2_uc011dkc.1_Missense_Mutation_p.S242R|SLC17A2_uc003nfl.2_Missense_Mutation_p.S242R	p.S242R			O00624	NPT3_HUMAN			6	809	-			242					A6NK81|A6NLD6|Q5TB84|Q76P85	Missense_Mutation	SNP	ENST00000265425.3	37	c.726T>A		.	.	.	.	.	.	.	.	.	.	A	15.66	2.898950	0.52227	.	.	ENSG00000112337	ENST00000360488;ENST00000377850;ENST00000265425	T;T;T	0.58652	0.32;0.32;0.32	4.65	0.887	0.19200	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000002	T	0.44850	0.1313	M	0.86864	2.845	0.20074	N	0.999938	B;P;P	0.47962	0.245;0.581;0.903	B;P;B	0.44921	0.349;0.464;0.43	T	0.45396	-0.9264	10	0.62326	D	0.03	.	6.4491	0.21894	0.6891:0.0:0.3109:0.0	.	242;242;242	O00624;A6NK81;O00624-2	NPT3_HUMAN;.;.	R	242	ENSP00000353677:S242R;ENSP00000367081:S242R;ENSP00000265425:S242R	ENSP00000265425:S242R	S	-	3	2	SLC17A2	26025218	0.004000	0.15560	0.221000	0.23827	0.944000	0.59088	-0.048000	0.11944	0.058000	0.16222	0.460000	0.39030	AGT		PASS	0.512	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1			29	67	29	67	---	---	---	---
HIST1H2BF	8343	broad.mit.edu	37	6	26200140	26200140	+	Silent	SNP	C	C	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr6:26200140C>A	ENST00000359985.1	+	1	393	c.354C>A	c.(352-354)gcC>gcA	p.A118A	HIST1H2AD_ENST00000341023.1_5'Flank|HIST1H3D_ENST00000356476.2_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	118					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A118A(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				GCACCAAGGCCGTCACCAAGT	0.542																																						uc003ngx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(352-354)GCC>GCA		histone cluster 1, H2bf							63.0	69.0	67.0					6																	26200140		2203	4300	6503	SO:0001819	synonymous_variant	8343				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26200140C>A	Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"""Histones / Replication-dependent"""	4752	protein-coding gene	gene with protein product		602804	"""H2B histone family, member G"", ""histone 1, H2bf"""	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.354C>A	6.37:g.26200140C>A						HIST1H3D_uc003ngv.2_5'Flank|HIST1H2AD_uc003ngw.2_5'Flank	p.A118A	NM_003522	NP_003513	P62807	H2B1C_HUMAN			1	354	+		all_hematologic(11;0.196)	118					P02278|Q3B872|Q4VB69|Q93078|Q93080	Silent	SNP	ENST00000359985.1	37	c.354C>A	CCDS4592.1																																																																																				PASS	0.542	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	NM_003522		27	61	27	61	---	---	---	---
NEU1	4758	broad.mit.edu	37	6	31828353	31828353	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr6:31828353C>A	ENST00000375631.4	-	4	790	c.661G>T	c.(661-663)Ggg>Tgg	p.G221W		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	221					glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)	p.G221W(1)		kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)	TCCAGCGTCCCATGGCCACAC	0.632																																						uc003nxq.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(661-663)GGG>TGG		neuraminidase precursor	Oseltamivir(DB00198)|Zanamivir(DB00558)						101.0	98.0	99.0					6																	31828353		2203	4300	6503	SO:0001583	missense	4758					cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding	g.chr6:31828353C>A	AF040958	CCDS4723.1	6p21	2012-10-02			ENSG00000204386	ENSG00000204386	3.2.1.18		7758	protein-coding gene	gene with protein product		608272		NEU		9054950	Standard	NM_000434		Approved		uc003nxq.4	Q99519	OTTHUMG00000031284	ENST00000375631.4:c.661G>T	6.37:g.31828353C>A	ENSP00000364782:p.Gly221Trp					NEU1_uc010jtg.2_RNA|NEU1_uc003nxr.3_RNA|NEU1_uc010jth.2_Missense_Mutation_p.G52W|NEU1_uc003nxs.3_Missense_Mutation_p.G221W	p.G221W	NM_000434	NP_000425	Q99519	NEUR1_HUMAN			4	817	-			221						Missense_Mutation	SNP	ENST00000375631.4	37	c.661G>T	CCDS4723.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336665	0.81801	.	.	ENSG00000204386	ENST00000375631	D	0.87966	-2.32	5.84	4.85	0.62838	Neuraminidase (2);	0.109027	0.64402	D	0.000007	D	0.92828	0.7719	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93717	0.7029	10	0.72032	D	0.01	-15.7007	10.5025	0.44815	0.0:0.8835:0.0:0.1165	.	221;221	E9PIF4;Q99519	.;NEUR1_HUMAN	W	221	ENSP00000364782:G221W	ENSP00000364782:G221W	G	-	1	0	NEU1	31936332	0.998000	0.40836	0.862000	0.33874	0.970000	0.65996	3.540000	0.53611	1.228000	0.43614	0.655000	0.94253	GGG		PASS	0.632	NEU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076616.2			38	117	38	117	---	---	---	---
SYNGAP1	8831	broad.mit.edu	37	6	33408702	33408702	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr6:33408702C>T	ENST00000418600.2	+	11	1974	c.1873C>T	c.(1873-1875)Ctc>Ttc	p.L625F	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.L566F|MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.L625F	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	625	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)	p.L625F(1)|p.L610F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						AACCCTCACCCTCATTGCCAA	0.587																																						uc011dri.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1873-1875)CTC>TTC		synaptic Ras GTPase activating protein 1							95.0	78.0	84.0					6																	33408702		2203	4300	6503	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33408702C>T	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.1873C>T	6.37:g.33408702C>T	ENSP00000403636:p.Leu625Phe					SYNGAP1_uc010juy.2_Missense_Mutation_p.L610F|SYNGAP1_uc010juz.2_Missense_Mutation_p.L337F	p.L625F	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN			11	2068	+			625			Ras-GAP.		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.1873C>T	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669546	0.88348	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.23950	1.88;1.88;1.88	5.03	5.03	0.67393	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	T	0.55955	0.1953	M	0.93763	3.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.997	T	0.67845	-0.5565	10	0.87932	D	0	.	15.8854	0.79244	0.0:1.0:0.0:0.0	.	625;625;625	Q96PV0;Q96PV0-2;Q96PV0-4	SYGP1_HUMAN;.;.	F	625;625;625;566	ENSP00000293748:L625F;ENSP00000403636:L625F;ENSP00000412475:L566F	ENSP00000293748:L625F	L	+	1	0	SYNGAP1	33516680	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.647000	0.83462	2.615000	0.88500	0.655000	0.94253	CTC		PASS	0.587	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		6	61	6	61	---	---	---	---
MAPK13	5603	broad.mit.edu	37	6	36100432	36100432	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr6:36100432C>T	ENST00000211287.4	+	3	546	c.284C>T	c.(283-285)tCc>tTc	p.S95F	MAPK13_ENST00000373761.6_Missense_Mutation_p.S95F|MAPK13_ENST00000373766.5_Missense_Mutation_p.S95F|MAPK13_ENST00000490334.1_3'UTR|MAPK13_ENST00000373759.1_Missense_Mutation_p.S17F	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	95	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 production (GO:0032755)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)	p.S95F(2)		breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						ACCCCAGCCTCCTCCCTGCGC	0.607																																						uc003ols.2																			2	Substitution - Missense(2)		lung(2)	breast(2)|central_nervous_system(1)	3						c.(283-285)TCC>TTC		mitogen-activated protein kinase 13							157.0	136.0	143.0					6																	36100432		2203	4300	6503	SO:0001583	missense	5603				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding	g.chr6:36100432C>T	Y10488	CCDS4818.1	6p21	2011-06-09			ENSG00000156711	ENSG00000156711	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6875	protein-coding gene	gene with protein product		602899		PRKM13		9295308, 9218798	Standard	NM_002754		Approved	SAPK4, p38delta	uc003ols.4	O15264	OTTHUMG00000014587	ENST00000211287.4:c.284C>T	6.37:g.36100432C>T	ENSP00000211287:p.Ser95Phe					MAPK13_uc003olt.2_RNA	p.S95F	NM_002754	NP_002745	O15264	MK13_HUMAN			3	382	+			95			Protein kinase.		O14739|O15124|Q5U4A5|Q6FI46|Q9UNU0	Missense_Mutation	SNP	ENST00000211287.4	37	c.284C>T	CCDS4818.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882714	0.51908	.	.	ENSG00000156711	ENST00000373761;ENST00000211287;ENST00000373770;ENST00000373766;ENST00000373759	T;T;T;T	0.44881	0.91;0.91;2.48;2.48	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.482216	0.17259	N	0.180854	T	0.26448	0.0646	L	0.39397	1.21	0.32502	N	0.538694	B	0.02656	0.0	B	0.10450	0.005	T	0.09862	-1.0655	10	0.52906	T	0.07	-21.6254	19.7596	0.96309	0.0:1.0:0.0:0.0	.	95	O15264	MK13_HUMAN	F	95;95;95;95;17	ENSP00000362866:S95F;ENSP00000211287:S95F;ENSP00000362871:S95F;ENSP00000362864:S17F	ENSP00000211287:S95F	S	+	2	0	MAPK13	36208410	0.007000	0.16637	1.000000	0.80357	0.972000	0.66771	2.268000	0.43338	2.746000	0.94184	0.563000	0.77884	TCC		PASS	0.607	MAPK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040328.1			21	214	21	214	---	---	---	---
TTBK1	84630	broad.mit.edu	37	6	43220491	43220491	+	Silent	SNP	G	G	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr6:43220491G>T	ENST00000259750.4	+	3	206	c.123G>T	c.(121-123)ggG>ggT	p.G41G	TTBK1_ENST00000304139.5_5'UTR	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	41	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G41G(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AAAAGATCGGGGGCGGGGGCT	0.582																																						uc003ouq.1																			1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9						c.(121-123)GGG>GGT		tau tubulin kinase 1							44.0	46.0	45.0					6																	43220491		2203	4300	6503	SO:0001819	synonymous_variant	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43220491G>T	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.123G>T	6.37:g.43220491G>T							p.G41G	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		3	402	+			41			ATP (By similarity).|Protein kinase.		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Silent	SNP	ENST00000259750.4	37	c.123G>T	CCDS34455.1																																																																																				PASS	0.582	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			30	56	30	56	---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87969104	87969104	+	Silent	SNP	A	A	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr6:87969104A>G	ENST00000369577.3	+	8	5800	c.5757A>G	c.(5755-5757)ctA>ctG	p.L1919L	ZNF292_ENST00000339907.4_Silent_p.L1914L	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1919						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.L1919L(1)|p.L1774L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGGATGCACTATTTAAGCACT	0.308																																						uc003plm.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)	4						c.(5755-5757)CTA>CTG		zinc finger protein 292							31.0	31.0	31.0					6																	87969104		1847	4092	5939	SO:0001819	synonymous_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87969104A>G	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.5757A>G	6.37:g.87969104A>G							p.L1919L	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	5798	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1919			C2H2-type 9.		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	c.5757A>G	CCDS47457.1																																																																																				PASS	0.308	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		18	28	18	28	---	---	---	---
FHL5	9457	broad.mit.edu	37	6	97053783	97053783	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr6:97053783C>G	ENST00000326771.2	+	5	720	c.340C>G	c.(340-342)Cgc>Ggc	p.R114G	FHL5_ENST00000541107.1_Missense_Mutation_p.R114G	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	114	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R114G(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TACAGGTTCCCGCAAAATGGA	0.353																																						uc003pos.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(340-342)CGC>GGC		activator of cAMP-responsive element modulator							67.0	65.0	66.0					6																	97053783		2203	4300	6503	SO:0001583	missense	9457					nucleus	zinc ion binding	g.chr6:97053783C>G	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.340C>G	6.37:g.97053783C>G	ENSP00000326022:p.Arg114Gly					FHL5_uc003pot.1_Missense_Mutation_p.R114G	p.R114G	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0948)	5	745	+		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)	114			LIM zinc-binding 2.		B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	ENST00000326771.2	37	c.340C>G	CCDS5035.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850202	0.71719	.	.	ENSG00000112214	ENST00000541107;ENST00000326771;ENST00000450218	D;D;D	0.87650	-2.28;-2.28;-2.28	6.06	6.06	0.98353	Zinc finger, LIM-type (5);	0.000000	0.44688	D	0.000428	D	0.91439	0.7298	M	0.74647	2.275	0.58432	D	0.999996	P	0.52061	0.95	P	0.55923	0.787	D	0.91308	0.5072	10	0.87932	D	0	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	114	Q5TD97	FHL5_HUMAN	G	114	ENSP00000442357:R114G;ENSP00000326022:R114G;ENSP00000396390:R114G	ENSP00000326022:R114G	R	+	1	0	FHL5	97160504	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	3.227000	0.51262	2.880000	0.98712	0.650000	0.86243	CGC		PASS	0.353	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		27	72	27	72	---	---	---	---
EPB41L2	2037	broad.mit.edu	37	6	131276358	131276358	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr6:131276358G>A	ENST00000337057.3	-	3	773	c.592C>T	c.(592-594)Cag>Tag	p.Q198*	EPB41L2_ENST00000527411.1_Nonsense_Mutation_p.Q198*|EPB41L2_ENST00000525193.1_Nonsense_Mutation_p.Q198*|EPB41L2_ENST00000529208.1_Nonsense_Mutation_p.Q198*|EPB41L2_ENST00000392427.3_Nonsense_Mutation_p.Q198*|EPB41L2_ENST00000530481.1_Nonsense_Mutation_p.Q198*|EPB41L2_ENST00000528282.1_Nonsense_Mutation_p.Q198*|EPB41L2_ENST00000368128.2_Nonsense_Mutation_p.Q198*|EPB41L2_ENST00000527659.1_Nonsense_Mutation_p.Q198*|EPB41L2_ENST00000445890.2_Nonsense_Mutation_p.Q198*|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000525271.1_Nonsense_Mutation_p.Q198*	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	198					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)	p.Q198*(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TCATTGGTCTGCACTTCCTTG	0.438																																						uc003qch.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(592-594)CAG>TAG		erythrocyte membrane protein band 4.1-like 2							344.0	311.0	322.0					6																	131276358		2203	4300	6503	SO:0001587	stop_gained	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131276358G>A	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.592C>T	6.37:g.131276358G>A	ENSP00000338481:p.Gln198*					EPB41L2_uc003qcg.1_Nonsense_Mutation_p.Q198*|EPB41L2_uc011eby.1_Nonsense_Mutation_p.Q198*|EPB41L2_uc003qci.2_Nonsense_Mutation_p.Q198*|EPB41L2_uc010kfk.2_Nonsense_Mutation_p.Q198*|EPB41L2_uc010kfl.1_Nonsense_Mutation_p.Q198*	p.Q198*	NM_001431	NP_001422	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	3	774	-	Breast(56;0.0639)		198					B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Nonsense_Mutation	SNP	ENST00000337057.3	37	c.592C>T	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701747	0.88924	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208	.	.	.	5.63	5.63	0.86233	.	0.308092	0.30979	N	0.008498	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	17.4978	0.87723	0.0:0.0:1.0:0.0	.	.	.	.	X	198	.	ENSP00000338481:Q198X	Q	-	1	0	EPB41L2	131318051	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.746000	0.74866	2.652000	0.90054	0.655000	0.94253	CAG		PASS	0.438	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			45	323	45	323	---	---	---	---
ENPP3	5169	broad.mit.edu	37	6	131995401	131995401	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr6:131995401G>T	ENST00000414305.1	+	9	1070	c.742G>T	c.(742-744)Gcc>Tcc	p.A248S	ENPP3_ENST00000358229.5_Missense_Mutation_p.A248S|ENPP3_ENST00000543135.1_Missense_Mutation_p.A214S|ENPP3_ENST00000427148.2_Missense_Mutation_p.A214S|ENPP3_ENST00000357639.3_Missense_Mutation_p.A248S			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	248	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.A248S(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AAATAATCCAGCCTGGTGGCA	0.423																																						uc003qcu.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(742-744)GCC>TCC		ectonucleotide pyrophosphatase/phosphodiesterase							63.0	59.0	60.0					6																	131995401		2203	4300	6503	SO:0001583	missense	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:131995401G>T	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.742G>T	6.37:g.131995401G>T	ENSP00000406261:p.Ala248Ser					ENPP3_uc010kfn.1_RNA|ENPP3_uc011ecc.1_Missense_Mutation_p.A214S|ENPP3_uc010kfo.1_RNA|ENPP3_uc010kfp.1_RNA|ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.A248S	p.A248S	NM_005021	NP_005012	O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	9	1089	+	Breast(56;0.0753)		248			Extracellular (Potential).|Phosphodiesterase.		Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	c.742G>T	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	G	8.493	0.862528	0.17178	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000543135;ENST00000427148;ENST00000358229	T;T;T;T;T	0.72615	-0.64;-0.64;-0.64;-0.67;-0.64	5.51	1.66	0.24008	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.684967	0.13660	N	0.371661	T	0.19248	0.0462	N	0.05012	-0.13	0.09310	N	1	B	0.14805	0.011	B	0.22880	0.042	T	0.33240	-0.9876	10	0.09843	T	0.71	-2.4297	4.9241	0.13885	0.2206:0.0:0.5234:0.256	.	248	O14638	ENPP3_HUMAN	S	248;248;214;214;248	ENSP00000406261:A248S;ENSP00000350265:A248S;ENSP00000440810:A214S;ENSP00000399269:A214S;ENSP00000350964:A248S	ENSP00000350265:A248S	A	+	1	0	ENPP3	132037094	0.000000	0.05858	0.014000	0.15608	0.477000	0.33069	-0.209000	0.09358	0.375000	0.24679	-0.202000	0.12741	GCC		PASS	0.423	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			16	77	16	77	---	---	---	---
KIAA1244	57221	broad.mit.edu	37	6	138531058	138531058	+	Silent	SNP	G	G	A	rs138636575		TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr6:138531058G>A	ENST00000251691.4	+	4	397	c.231G>A	c.(229-231)tcG>tcA	p.S77S		NM_020340.4	NP_065073.3			KIAA1244									p.S6S(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGCTTCTGTCGGAAGAGAGGT	0.458																																						uc003qhu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(229-231)TCG>TCA		brefeldin A-inhibited guanine		G		1,4405	2.1+/-5.4	0,1,2202	139.0	133.0	135.0		231	-11.1	0.3	6	dbSNP_134	135	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIAA1244	NM_020340.4		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		77/2178	138531058	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138531058G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.231G>A	6.37:g.138531058G>A							p.S77S	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	4	231	+	Breast(32;0.135)		77						Silent	SNP	ENST00000251691.4	37	c.231G>A	CCDS5189.2																																																																																				PASS	0.458	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		52	139	52	139	---	---	---	---
SHPRH	257218	broad.mit.edu	37	6	146244844	146244844	+	Silent	SNP	C	C	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr6:146244844C>T	ENST00000367505.2	-	18	3744	c.3480G>A	c.(3478-3480)caG>caA	p.Q1160Q	SHPRH_ENST00000438092.2_Silent_p.Q1169Q|SHPRH_ENST00000367503.3_Silent_p.Q1169Q|SHPRH_ENST00000275233.7_Silent_p.Q1160Q			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1160					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q1169Q(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTCGCACTCGCTGAACTAGCT	0.363																																						uc003qlf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(3478-3480)CAG>CAA		SNF2 histone linker PHD RING helicase isoform a							149.0	133.0	138.0					6																	146244844		1836	4098	5934	SO:0001819	synonymous_variant	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146244844C>T	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.3480G>A	6.37:g.146244844C>T						SHPRH_uc003qld.2_Silent_p.Q1169Q|SHPRH_uc003qle.2_Silent_p.Q1169Q|SHPRH_uc003qlg.1_Silent_p.Q716Q|SHPRH_uc003qlh.2_Silent_p.Q85Q|SHPRH_uc003qli.1_Silent_p.Q85Q	p.Q1160Q	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	18	3879	-		Ovarian(120;0.0365)	1160					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Silent	SNP	ENST00000367505.2	37	c.3480G>A	CCDS43513.2																																																																																				PASS	0.363	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		73	99	73	99	---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157522135	157522135	+	Silent	SNP	T	T	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr6:157522135T>C	ENST00000350026.5	+	17	4369	c.4368T>C	c.(4366-4368)aaT>aaC	p.N1456N	ARID1B_ENST00000367148.1_Silent_p.N1509N|ARID1B_ENST00000346085.5_Silent_p.N1469N|ARID1B_ENST00000275248.4_Silent_p.N1451N	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1456					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.N1451N(1)|p.N1469N(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAGCACGCAATGATATGCCTT	0.617																																						uc003qqn.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)	2						c.(4351-4353)AAT>AAC		AT rich interactive domain 1B (SWI1-like)							48.0	52.0	50.0					6																	157522135		2203	4296	6499	SO:0001819	synonymous_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157522135T>C	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4368T>C	6.37:g.157522135T>C						ARID1B_uc003qqo.2_Silent_p.N1411N|ARID1B_uc003qqp.2_Silent_p.N1398N	p.N1451N	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	18	4505	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1456					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	c.4353T>C	CCDS5251.2																																																																																				PASS	0.617	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		23	37	23	37	---	---	---	---
SMOC2	64094	broad.mit.edu	37	6	169053815	169053815	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr6:169053815G>A	ENST00000356284.2	+	11	1412	c.1192G>A	c.(1192-1194)Gtg>Atg	p.V398M	SMOC2_ENST00000354536.5_Missense_Mutation_p.V409M	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	398	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.V409M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		ATACTGTGACGTGAATAATGA	0.458																																						uc003qws.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1192-1194)GTG>ATG		SPARC related modular calcium binding 2							124.0	117.0	119.0					6																	169053815		2203	4300	6503	SO:0001583	missense	64094				signal transduction	basement membrane	calcium ion binding	g.chr6:169053815G>A	AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"""EF-hand domain containing"""	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.1192G>A	6.37:g.169053815G>A	ENSP00000348630:p.Val398Met					SMOC2_uc003qwr.1_Missense_Mutation_p.V409M|SMOC2_uc011egu.1_Missense_Mutation_p.V75M	p.V398M	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)	11	1212	+		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)	398			2 (Potential).|EF-hand 2.		B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Missense_Mutation	SNP	ENST00000356284.2	37	c.1192G>A	CCDS55076.1	.	.	.	.	.	.	.	.	.	.	G	7.649	0.682463	0.14907	.	.	ENSG00000112562	ENST00000356284;ENST00000354536;ENST00000366793;ENST00000392101;ENST00000538593;ENST00000417208	T;T	0.36520	1.25;1.25	4.92	4.03	0.46877	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.418347	0.24215	N	0.040490	T	0.11965	0.0291	L	0.43152	1.355	0.31740	N	0.635896	B;B	0.31318	0.319;0.076	B;B	0.26094	0.066;0.03	T	0.08953	-1.0697	10	0.34782	T	0.22	-4.0834	7.5074	0.27553	0.0909:0.1675:0.7417:0.0	.	398;409	Q9H3U7;Q9H3U7-2	SMOC2_HUMAN;.	M	398;409;398;75;75;18	ENSP00000348630:V398M;ENSP00000346537:V409M	ENSP00000346537:V409M	V	+	1	0	SMOC2	168795740	1.000000	0.71417	0.055000	0.19348	0.172000	0.22775	1.981000	0.40628	1.021000	0.39600	0.655000	0.94253	GTG		PASS	0.458	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043201.1			18	76	18	76	---	---	---	---
RBAK	57786	broad.mit.edu	37	7	5105028	5105028	+	Silent	SNP	A	A	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr7:5105028A>G	ENST00000353796.3	+	6	2265	c.1941A>G	c.(1939-1941)ggA>ggG	p.G647G	RBAK_ENST00000396912.1_Silent_p.G647G|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	647	Interaction with AR.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.G647G(1)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GCCATTCAGGAGAGAAACCCT	0.398																																						uc010kss.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|kidney(1)|skin(1)	5						c.(1939-1941)GGA>GGG		RB-associated KRAB repressor							102.0	111.0	108.0					7																	5105028		2203	4300	6503	SO:0001819	synonymous_variant	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5105028A>G	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.1941A>G	7.37:g.5105028A>G						LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Silent_p.G647G	p.G647G	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	6	2265	+		Ovarian(82;0.0175)	647			Interaction with AR.		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Silent	SNP	ENST00000353796.3	37	c.1941A>G	CCDS5337.1																																																																																				PASS	0.398	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		14	285	14	285	---	---	---	---
PLEKHA8	84725	broad.mit.edu	37	7	30092432	30092432	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr7:30092432A>G	ENST00000449726.1	+	7	1096	c.746A>G	c.(745-747)gAg>gGg	p.E249G	PLEKHA8_ENST00000396259.1_Missense_Mutation_p.E249G|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.E249G|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.E249G	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	249					ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)	p.E249G(2)		breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						AAATCTGCAGAGATAGACTGC	0.294																																						uc003tam.1																			2	Substitution - Missense(2)		lung(2)	breast(3)|ovary(1)	4						c.(745-747)GAG>GGG		pleckstrin homology domain containing, family A							32.0	31.0	31.0					7																	30092432		2178	4290	6468	SO:0001583	missense	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30092432A>G	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.746A>G	7.37:g.30092432A>G	ENSP00000397947:p.Glu249Gly					PLEKHA8_uc003tao.2_Missense_Mutation_p.E133G|PLEKHA8_uc003tap.1_Missense_Mutation_p.E249G|PLEKHA8_uc003tan.2_Missense_Mutation_p.E249G	p.E249G	NM_032639	NP_116028	Q96JA3	PKHA8_HUMAN			7	837	+			249					B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Missense_Mutation	SNP	ENST00000449726.1	37	c.746A>G	CCDS56473.1	.	.	.	.	.	.	.	.	.	.	A	13.76	2.334189	0.41297	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	5.95	3.56	0.40772	.	0.244651	0.40728	N	0.001034	T	0.37839	0.1018	L	0.50333	1.59	0.33214	D	0.553801	B;B;B;B	0.34329	0.449;0.321;0.137;0.376	B;B;B;B	0.32864	0.154;0.073;0.109;0.062	T	0.48636	-0.9018	9	0.45353	T	0.12	-14.1762	7.0965	0.25313	0.7776:0.1474:0.075:0.0	.	249;249;249;249	Q96JA3-2;Q96JA3;Q96JA3-3;B4DH00	.;PKHA8_HUMAN;.;.	G	249;249;249;249;275	.	ENSP00000258679:E249G	E	+	2	0	PLEKHA8	30058957	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.878000	0.56130	0.491000	0.27793	-1.176000	0.01726	GAG		PASS	0.294	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		29	58	29	58	---	---	---	---
VPS41	27072	broad.mit.edu	37	7	38768321	38768321	+	Missense_Mutation	SNP	C	C	T	rs377296574		TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr7:38768321C>T	ENST00000310301.4	-	26	2384	c.2330G>A	c.(2329-2331)cGa>cAa	p.R777Q	VPS41_ENST00000395969.2_Missense_Mutation_p.R752Q	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	777					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)	p.R777Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CATTTGAGTTCGGTGCATTTT	0.393																																						uc003tgy.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(2329-2331)CGA>CAA		vacuolar protein sorting 41 isoform 1		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	132.0	126.0	128.0		2330,2255	4.8	1.0	7		128	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	VPS41	NM_014396.3,NM_080631.3	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	777/855,752/830	38768321	1,13005	2203	4300	6503	SO:0001583	missense	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38768321C>T	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.2330G>A	7.37:g.38768321C>T	ENSP00000309457:p.Arg777Gln					VPS41_uc003tgz.2_Missense_Mutation_p.R752Q|VPS41_uc010kxn.2_Missense_Mutation_p.R688Q|VPS41_uc003tgx.2_RNA	p.R777Q	NM_014396	NP_055211	P49754	VPS41_HUMAN			26	2356	-			777					E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	c.2330G>A	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486191	0.63962	0.0	1.16E-4	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.31769	1.48;1.48	5.71	4.82	0.62117	.	0.112312	0.64402	D	0.000019	T	0.27419	0.0673	M	0.66939	2.045	0.48901	D	0.999728	B;P;P	0.41710	0.364;0.76;0.76	B;B;B	0.31016	0.017;0.123;0.123	T	0.09618	-1.0666	10	0.22109	T	0.4	-8.4714	14.6388	0.68708	0.0:0.9284:0.0:0.0716	.	777;752;777	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	Q	777;752	ENSP00000309457:R777Q;ENSP00000379297:R752Q	ENSP00000309457:R777Q	R	-	2	0	VPS41	38734846	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.297000	0.59061	2.680000	0.91292	0.655000	0.94253	CGA		PASS	0.393	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			42	183	42	183	---	---	---	---
HECW1	23072	broad.mit.edu	37	7	43484216	43484216	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr7:43484216C>A	ENST00000395891.2	+	11	2050	c.1445C>A	c.(1444-1446)aCc>aAc	p.T482N	HECW1_ENST00000453890.1_Missense_Mutation_p.T482N	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	482	Glu-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.T482N(1)|p.T461N(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCAGCCAGCACCAAGGAGGAG	0.632																																						uc003tid.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(1444-1446)ACC>AAC		NEDD4-like ubiquitin-protein ligase 1							15.0	18.0	17.0					7																	43484216		2054	4203	6257	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484216C>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1445C>A	7.37:g.43484216C>A	ENSP00000379228:p.Thr482Asn					HECW1_uc011kbi.1_Missense_Mutation_p.T482N	p.T482N	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			11	2050	+			482			Glu-rich.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.1445C>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	5.525	0.281749	0.10458	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.30182	1.55;1.54	4.29	-1.58	0.08479	.	17.248600	0.00166	N	0.000000	T	0.14227	0.0344	N	0.08118	0	0.09310	N	1	B;B	0.21381	0.055;0.005	B;B	0.12837	0.008;0.004	T	0.09751	-1.0660	10	0.16420	T	0.52	.	3.9497	0.09363	0.2996:0.2826:0.0:0.4177	.	482;482	B4DH42;Q76N89	.;HECW1_HUMAN	N	482	ENSP00000379228:T482N;ENSP00000407774:T482N	ENSP00000265522:T482N	T	+	2	0	HECW1	43450741	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.049000	0.11924	-0.335000	0.08451	0.561000	0.74099	ACC		PASS	0.632	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		11	15	11	15	---	---	---	---
HECW1	23072	broad.mit.edu	37	7	43546832	43546832	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr7:43546832T>A	ENST00000395891.2	+	22	4333	c.3728T>A	c.(3727-3729)tTt>tAt	p.F1243Y	AC011738.4_ENST00000436105.1_RNA|HECW1_ENST00000453890.1_Missense_Mutation_p.F1209Y	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1243					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.F1222Y(1)|p.F1243Y(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCCAAAGGATTTGGTCAGGGT	0.488																																						uc003tid.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(3727-3729)TTT>TAT		NEDD4-like ubiquitin-protein ligase 1							104.0	111.0	109.0					7																	43546832		1840	4079	5919	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43546832T>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3728T>A	7.37:g.43546832T>A	ENSP00000379228:p.Phe1243Tyr					HECW1_uc011kbi.1_Missense_Mutation_p.F1209Y	p.F1243Y	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			22	4333	+			1243					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.3728T>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	T	8.203	0.798563	0.16397	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	D;D	0.83914	-1.78;-1.78	5.71	5.71	0.89125	HECT (1);	0.155822	0.64402	D	0.000016	T	0.49881	0.1583	N	0.00554	-1.385	0.42338	D	0.992321	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.58668	-0.7596	10	0.02654	T	1	.	9.4055	0.38460	0.2636:0.0:0.0:0.7364	.	1209;1243	B4DH42;Q76N89	.;HECW1_HUMAN	Y	1243;1209;1243	ENSP00000379228:F1243Y;ENSP00000407774:F1209Y	ENSP00000265522:F1243Y	F	+	2	0	HECW1	43513357	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.617000	0.67716	2.177000	0.69029	0.443000	0.29094	TTT		PASS	0.488	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		93	116	93	116	---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45701693	45701693	+	Silent	SNP	G	G	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr7:45701693G>T	ENST00000297323.7	+	8	1507	c.1485G>T	c.(1483-1485)ccG>ccT	p.P495P	ADCY1_ENST00000432715.1_Silent_p.P270P	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	495	Interaction with calmodulin. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.P495P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ATATAAAACCGGCCAAAAGGA	0.488																																						uc003tne.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(1483-1485)CCG>CCT		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						87.0	80.0	82.0					7																	45701693		2203	4300	6503	SO:0001819	synonymous_variant	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45701693G>T	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1485G>T	7.37:g.45701693G>T						ADCY1_uc003tnd.2_Silent_p.P270P	p.P495P	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			8	1503	+			495			Interaction with calmodulin (By similarity).|Cytoplasmic (Potential).		A4D2L8|Q75MI1	Silent	SNP	ENST00000297323.7	37	c.1485G>T	CCDS34631.1																																																																																				PASS	0.488	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		34	62	34	62	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48318575	48318575	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr7:48318575T>C	ENST00000435803.1	+	18	7808	c.7784T>C	c.(7783-7785)cTt>cCt	p.L2595P		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2595					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L2540P(1)|p.L2595P(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GTGCCATTTCTTGACTTGGCC	0.308																																						uc003toq.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(7783-7785)CTT>CCT		ATP binding cassette, sub-family A (ABC1),							54.0	57.0	56.0					7																	48318575		1821	4073	5894	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48318575T>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7784T>C	7.37:g.48318575T>C	ENSP00000411096:p.Leu2595Pro					ABCA13_uc010kys.1_5'Flank	p.L2595P	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			18	7809	+			2595					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.7784T>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	4.845	0.157024	0.09236	.	.	ENSG00000179869	ENST00000435803	T	0.61980	0.06	4.93	3.78	0.43462	.	0.163376	0.28989	N	0.013483	T	0.44074	0.1276	N	0.19112	0.55	0.43355	D	0.995423	B	0.15930	0.015	B	0.17722	0.019	T	0.27331	-1.0077	10	0.46703	T	0.11	.	7.526	0.27656	0.0:0.0984:0.0:0.9016	.	2595	Q86UQ4	ABCAD_HUMAN	P	2595	ENSP00000411096:L2595P	ENSP00000411096:L2595P	L	+	2	0	ABCA13	48289121	1.000000	0.71417	0.993000	0.49108	0.107000	0.19398	2.198000	0.42705	0.742000	0.32697	-0.274000	0.10170	CTT		PASS	0.308	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		95	137	95	137	---	---	---	---
EGFR	1956	broad.mit.edu	37	7	55241711	55241711	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr7:55241711C>G	ENST00000275493.2	+	18	2336	c.2159C>G	c.(2158-2160)tCc>tGc	p.S720C	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.S667C|EGFR_ENST00000455089.1_Missense_Mutation_p.S675C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	720	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.S720F(4)|p.S720C(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GTGCTGGGCTCCGGTGCGTTC	0.572		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		5	Substitution - Missense(5)	p.S720F(5)|p.S720P(2)|p.S720S(1)|p.S720T(1)	lung(3)|ovary(2)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(2158-2160)TCC>TGC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						66.0	68.0	67.0					7																	55241711		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55241711C>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2159C>G	7.37:g.55241711C>G	ENSP00000275493:p.Ser720Cys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_Missense_Mutation_p.S675C|EGFR_uc011kco.1_Missense_Mutation_p.S667C	p.S720C	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		18	2405	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		720			Cytoplasmic (Potential).|Protein kinase.|ATP.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2159C>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440536	0.63067	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	D;D;D	0.84070	-1.8;-1.8;-1.8	5.5	5.5	0.81552	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90259	0.6954	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.73380	0.777;0.98	D	0.91023	0.4858	10	0.87932	D	0	.	17.9478	0.89044	0.0:1.0:0.0:0.0	.	675;720	Q504U8;P00533	.;EGFR_HUMAN	C	675;590;720;667	ENSP00000415559:S675C;ENSP00000275493:S720C;ENSP00000395243:S667C	ENSP00000275493:S720C	S	+	2	0	EGFR	55209205	1.000000	0.71417	0.895000	0.35142	0.012000	0.07955	7.744000	0.85034	2.562000	0.86427	0.563000	0.77884	TCC		PASS	0.572	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		7	176	7	176	---	---	---	---
CRCP	27297	broad.mit.edu	37	7	65617210	65617210	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr7:65617210G>T	ENST00000395326.3	+	6	671	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	CRCP_ENST00000338592.5_Nonsense_Mutation_p.E72*|AC068533.7_ENST00000450043.1_Nonstop_Mutation_p.*287L|CRCP_ENST00000431089.2_Nonsense_Mutation_p.E98*|CRCP_ENST00000492264.1_3'UTR|CRCP_ENST00000398684.2_Nonsense_Mutation_p.E28*|CRCP_ENST00000415001.2_Nonsense_Mutation_p.E72*|RP5-1132H15.1_ENST00000435524.2_RNA	NM_014478.4	NP_055293.1	O75575	RPC9_HUMAN	CGRP receptor component	105					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|neuropeptide signaling pathway (GO:0007218)|transcription from RNA polymerase III promoter (GO:0006383)	acrosomal vesicle (GO:0001669)|DNA polymerase III complex (GO:0009360)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcitonin gene-related polypeptide receptor activity (GO:0001635)|DNA-directed RNA polymerase activity (GO:0003899)|nucleotide binding (GO:0000166)	p.E105*(2)|p.E98*(1)		cervix(1)|kidney(1)|lung(4)	6						GGAAGAGAGTGAAGAGCGGCT	0.527																																						uc003tus.2																			3	Substitution - Nonsense(3)		lung(3)		0						c.(313-315)GAA>TAA		calcitonin gene-related peptide-receptor							73.0	70.0	71.0					7																	65617210		2203	4300	6503	SO:0001587	stop_gained	27297				acrosome reaction|innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA polymerase III complex|nucleus|plasma membrane	calcitonin receptor activity|DNA-directed RNA polymerase activity|nucleotide binding	g.chr7:65617210G>T	AF073792	CCDS5532.1, CCDS47599.1, CCDS47600.1, CCDS55116.1	7q11.1	2009-01-14			ENSG00000241258	ENSG00000241258			17888	protein-coding gene	gene with protein product	"""calcitonin gene-related peptide-receptor component protein"""	606121				8622957, 10067875, 12482973	Standard	NM_014478		Approved	CGRP-RCP, RCP, RCP9	uc011kdw.2	O75575	OTTHUMG00000129519	ENST00000395326.3:c.313G>T	7.37:g.65617210G>T	ENSP00000378736:p.Glu105*					CRCP_uc003tuv.2_RNA|CRCP_uc011kdw.1_Nonsense_Mutation_p.E98*|CRCP_uc003tut.2_Nonsense_Mutation_p.E72*|CRCP_uc003tuu.2_Nonsense_Mutation_p.E28*	p.E105*	NM_014478	NP_055293	O75575	RPC9_HUMAN			6	458	+			105					A8MUZ4|A8MW23|B2R4H4|B4E198|Q3KRA3|Q5HYF1|Q8IXL4	Nonsense_Mutation	SNP	ENST00000395326.3	37	c.313G>T	CCDS5532.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.7|23.7	4.448277|4.448277	0.84101|0.84101	.|.	.|.	ENSG00000241258|ENSG00000249319	ENST00000395326;ENST00000431089;ENST00000398684;ENST00000338592;ENST00000415001|ENST00000450043	.|.	.|.	.|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.59425|.	D|.	0.04|.	-21.783|-21.783	14.2716|14.2716	0.66155|0.66155	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	105;98;28;72;72|287	.|.	ENSP00000340044:E72X|.	E|X	+|+	1|2	0|2	CRCP|AC068533.7	65254645|65254645	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.312000|6.312000	0.72840|0.72840	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	GAA|TGA		PASS	0.527	CRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251697.2	NM_014478		20	81	20	81	---	---	---	---
CROT	54677	broad.mit.edu	37	7	87011274	87011274	+	Missense_Mutation	SNP	G	G	C	rs201754021		TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr7:87011274G>C	ENST00000331536.3	+	11	1212	c.1027G>C	c.(1027-1029)Gat>Cat	p.D343H	CROT_ENST00000442291.1_Missense_Mutation_p.D343H|CROT_ENST00000419147.2_Missense_Mutation_p.D371H	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	343					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)	p.D343H(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TTATTATGTGGATGAGAAAAT	0.274																																						uc003uit.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1027-1029)GAT>CAT		peroxisomal carnitine O-octanoyltransferase	L-Carnitine(DB00583)						104.0	102.0	103.0					7																	87011274		2203	4297	6500	SO:0001583	missense	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:87011274G>C		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.1027G>C	7.37:g.87011274G>C	ENSP00000331981:p.Asp343His					CROT_uc003uiu.2_Missense_Mutation_p.D371H	p.D343H	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN			11	1272	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		343					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	c.1027G>C	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252320	0.59212	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.89270	-2.49;-2.49;-2.49	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.89164	0.6637	M	0.82630	2.6	0.80722	D	1	B;B	0.32507	0.194;0.373	B;B	0.29267	0.1;0.099	D	0.86955	0.2088	10	0.15952	T	0.53	-28.9473	19.4212	0.94721	0.0:0.0:1.0:0.0	.	371;343	E7EQF2;Q9UKG9	.;OCTC_HUMAN	H	371;343;343	ENSP00000413575:D371H;ENSP00000331981:D343H;ENSP00000411983:D343H	ENSP00000331981:D343H	D	+	1	0	CROT	86849210	1.000000	0.71417	0.930000	0.37139	0.979000	0.70002	6.169000	0.71913	2.674000	0.91012	0.467000	0.42956	GAT		PASS	0.274	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		15	127	15	127	---	---	---	---
ADAM22	53616	broad.mit.edu	37	7	87792411	87792411	+	Silent	SNP	A	A	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr7:87792411A>G	ENST00000265727.7	+	23	2071	c.1992A>G	c.(1990-1992)ttA>ttG	p.L664L	ADAM22_ENST00000398201.4_Silent_p.L664L|ADAM22_ENST00000398204.4_Silent_p.L664L|ADAM22_ENST00000315984.7_Silent_p.L664L|ADAM22_ENST00000398209.3_Silent_p.L664L			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	664	Cys-rich.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L664L(3)		endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TGATGTGCTTAGAACACAGGT	0.428																																						uc003ujn.2																			3	Substitution - coding silent(3)		lung(3)	ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(1990-1992)TTA>TTG		ADAM metallopeptidase domain 22 isoform 1							176.0	159.0	164.0					7																	87792411		1871	4106	5977	SO:0001819	synonymous_variant	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87792411A>G	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1992A>G	7.37:g.87792411A>G						ADAM22_uc003ujk.1_Silent_p.L664L|ADAM22_uc003ujl.1_Silent_p.L664L|ADAM22_uc003ujm.2_Silent_p.L664L|ADAM22_uc003ujo.2_Silent_p.L664L|ADAM22_uc003ujp.1_Silent_p.L716L	p.L664L	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		23	2071	+	Esophageal squamous(14;0.00202)		664			Cys-rich.|Extracellular (Potential).		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Silent	SNP	ENST00000265727.7	37	c.1992A>G	CCDS47637.1																																																																																				PASS	0.428	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		121	257	121	257	---	---	---	---
LRCH4	4034	broad.mit.edu	37	7	100179992	100179992	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr7:100179992C>G	ENST00000310300.6	-	2	363	c.311G>C	c.(310-312)aGa>aCa	p.R104T	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	104					nervous system development (GO:0007399)	PML body (GO:0016605)		p.R104T(1)		NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTTCAGGCATCTCAGGCAATT	0.637																																						uc003uvj.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(310-312)AGA>ACA		leucine-rich repeats and calponin homology (CH)							86.0	82.0	83.0					7																	100179992		2203	4300	6503	SO:0001583	missense	4034				nervous system development	PML body	protein binding	g.chr7:100179992C>G	AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.311G>C	7.37:g.100179992C>G	ENSP00000309689:p.Arg104Thr					LRCH4_uc010lgz.2_RNA|LRCH4_uc003uvi.2_RNA|LRCH4_uc011kjx.1_RNA	p.R104T	NM_002319	NP_002310	O75427	LRCH4_HUMAN			2	364	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		104			LRR 3.		A4D2D5|Q8WV85|Q96ID0	Missense_Mutation	SNP	ENST00000310300.6	37	c.311G>C	CCDS34706.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551945	0.65311	.	.	ENSG00000077454	ENST00000310300	T	0.54866	0.55	4.61	3.71	0.42584	.	0.204011	0.43747	D	0.000539	T	0.30070	0.0753	N	0.00215	-1.835	0.80722	D	1	D	0.57571	0.98	P	0.57776	0.827	T	0.61028	-0.7145	10	0.87932	D	0	-2.7422	11.2654	0.49108	0.0:0.9082:0.0:0.0918	.	104	O75427	LRCH4_HUMAN	T	104	ENSP00000309689:R104T	ENSP00000309689:R104T	R	-	2	0	LRCH4	100017928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.665000	0.54532	1.297000	0.44761	0.650000	0.86243	AGA		PASS	0.637	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319		17	114	17	114	---	---	---	---
LAMB1	3912	broad.mit.edu	37	7	107621203	107621203	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr7:107621203C>A	ENST00000222399.6	-	8	960	c.730G>T	c.(730-732)Gga>Tga	p.G244*	LAMB1_ENST00000393560.1_Nonsense_Mutation_p.G244*|LAMB1_ENST00000393561.1_Nonsense_Mutation_p.G268*	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	244	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.G244*(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						AGGTTATCTCCCAAAGTATGC	0.363																																						uc003vew.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8						c.(730-732)GGA>TGA		laminin, beta 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						77.0	75.0	75.0					7																	107621203		2203	4300	6503	SO:0001587	stop_gained	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107621203C>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.730G>T	7.37:g.107621203C>A	ENSP00000222399:p.Gly244*					LAMB1_uc003vev.2_Nonsense_Mutation_p.G268*|LAMB1_uc003vex.2_Nonsense_Mutation_p.G244*|LAMB1_uc010ljn.1_Nonsense_Mutation_p.G330*	p.G244*	NM_002291	NP_002282	P07942	LAMB1_HUMAN			8	1065	-			244			Laminin N-terminal.		Q14D91	Nonsense_Mutation	SNP	ENST00000222399.6	37	c.730G>T	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	40	8.172188	0.98688	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1253	0.97977	0.0:1.0:0.0:0.0	.	.	.	.	X	268;244;244	.	ENSP00000222399:G244X	G	-	1	0	LAMB1	107408439	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.432000	0.80349	2.832000	0.97577	0.655000	0.94253	GGA		PASS	0.363	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		70	123	70	123	---	---	---	---
MTPN	136319	broad.mit.edu	37	7	135661836	135661836	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr7:135661836C>G	ENST00000393085.3	-	1	228	c.13G>C	c.(13-15)Gag>Cag	p.E5Q	MTPN_ENST00000435723.1_Missense_Mutation_p.E5Q	NM_001128619.2|NM_145808.3	NP_001122091.2|NP_665807.1	P58546	MTPN_HUMAN	myotrophin	5					catecholamine metabolic process (GO:0006584)|cell growth (GO:0016049)|cerebellar granule cell differentiation (GO:0021707)|neuron differentiation (GO:0030182)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell growth (GO:0030307)|positive regulation of macromolecule biosynthetic process (GO:0010557)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein metabolic process (GO:0051247)|regulation of barbed-end actin filament capping (GO:2000812)|regulation of striated muscle tissue development (GO:0016202)|regulation of translation (GO:0006417)|skeletal muscle tissue regeneration (GO:0043403)|striated muscle cell differentiation (GO:0051146)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|nucleus (GO:0005634)		p.E5Q(1)		endometrium(1)|lung(4)|prostate(1)	6						CACATGAACTCCTTGTCGCAC	0.617																																						uc003vte.3																			1	Substitution - Missense(1)		lung(1)		0						c.(13-15)GAG>CAG		myotrophin							162.0	138.0	146.0					7																	135661836		2203	4300	6503	SO:0001583	missense	767558							g.chr7:135661836C>G	AC015987	CCDS5842.1	7q33-q35	2013-01-10			ENSG00000105887	ENSG00000105887		"""Ankyrin repeat domain containing"""	15667	protein-coding gene	gene with protein product	"""granule cell differentiation protein"""	606484				11474205	Standard	NM_145808		Approved	MYOTROPHIN, GCDP, V-1		P58546	OTTHUMG00000155627	ENST00000393085.3:c.13G>C	7.37:g.135661836C>G	ENSP00000376800:p.Glu5Gln					LUZP6_uc010lmv.2_RNA	p.E5Q	NM_145808	NP_665807	Q538Z0	LUZP6_HUMAN			1	369	-			Error:Variant_position_missing_in_Q538Z0_after_alignment						Missense_Mutation	SNP	ENST00000393085.3	37	c.13G>C	CCDS5842.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187325	0.38609	.	.	ENSG00000105887	ENST00000393085;ENST00000435723	T	0.31769	1.48	4.69	3.81	0.43845	Ankyrin repeat-containing domain (1);	0.114376	0.64402	D	0.000018	T	0.28797	0.0714	L	0.55743	1.74	0.23689	N	0.997106	B	0.33288	0.406	B	0.32533	0.147	T	0.23297	-1.0192	10	0.62326	D	0.03	.	10.8005	0.46485	0.0:0.9071:0.0:0.0929	.	5	P58546	MTPN_HUMAN	Q	5	ENSP00000376800:E5Q	ENSP00000376800:E5Q	E	-	1	0	MTPN	135312376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.493000	0.60341	1.190000	0.43042	0.561000	0.74099	GAG		PASS	0.617	MTPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340921.1	NM_145808		55	146	55	146	---	---	---	---
OR2F1	26211	broad.mit.edu	37	7	143657910	143657910	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr7:143657910C>A	ENST00000392899.1	+	1	884	c.847C>A	c.(847-849)Cca>Aca	p.P283T	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	283					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P283T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CATTTTAACACCAATGCTGAA	0.463																																						uc003wds.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(847-849)CCA>ACA		olfactory receptor, family 2, subfamily F,							103.0	92.0	96.0					7																	143657910		2203	4300	6503	SO:0001583	missense	26211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143657910C>A	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.847C>A	7.37:g.143657910C>A	ENSP00000376633:p.Pro283Thr						p.P283T	NM_012369	NP_036501	Q13607	OR2F1_HUMAN			1	891	+	Melanoma(164;0.0903)		283			Helical; Name=7; (Potential).		A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Missense_Mutation	SNP	ENST00000392899.1	37	c.847C>A	CCDS5887.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.143053	0.37825	.	.	ENSG00000213215	ENST00000392899	T	0.00344	8.02	5.42	5.42	0.78866	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000137	T	0.01421	0.0046	H	0.95328	3.655	0.42529	D	0.993035	D	0.89917	1.0	D	0.97110	1.0	T	0.41088	-0.9528	10	0.87932	D	0	-39.9621	16.7529	0.85490	0.0:1.0:0.0:0.0	.	283	Q13607	OR2F1_HUMAN	T	283	ENSP00000376633:P283T	ENSP00000376633:P283T	P	+	1	0	OR2F1	143288843	0.999000	0.42202	0.787000	0.31911	0.166000	0.22503	4.340000	0.59328	2.811000	0.96726	0.655000	0.94253	CCA		PASS	0.463	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1			84	125	84	125	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149510823	149510823	+	RNA	SNP	C	C	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr7:149510823C>A	ENST00000378016.2	+	0	10108							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGCCTGGACCTGCTGACCGG	0.697																																						uc010lpk.2																			0					0						c.(10108-10110)CTG>ATG		SCO-spondin precursor							20.0	24.0	23.0					7																	149510823		2003	4154	6157			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149510823C>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149510823C>A							p.L3370M	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		72	10108	+	Melanoma(164;0.165)|Ovarian(565;0.177)		3370					Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.10108C>A																																																																																					PASS	0.697	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				16	36	16	36	---	---	---	---
CDK5	1020	broad.mit.edu	37	7	150754047	150754047	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr7:150754047C>T	ENST00000485972.1	-	3	823	c.142G>A	c.(142-144)Gcc>Acc	p.A48T	SLC4A2_ENST00000413384.2_5'Flank|SLC4A2_ENST00000485713.1_5'Flank|CDK5_ENST00000297518.4_Missense_Mutation_p.A48T	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	48	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|behavioral response to cocaine (GO:0048148)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|central nervous system neuron development (GO:0021954)|cerebellar cortex formation (GO:0021697)|corpus callosum development (GO:0022038)|cortical actin cytoskeleton organization (GO:0030866)|dendrite morphogenesis (GO:0048813)|embryo development (GO:0009790)|hippocampus development (GO:0021766)|intracellular protein transport (GO:0006886)|layer formation in cerebral cortex (GO:0021819)|motor neuron axon guidance (GO:0008045)|negative regulation of axon extension (GO:0030517)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of proteolysis (GO:0045861)|negative regulation of synaptic plasticity (GO:0031914)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|nucleocytoplasmic transport (GO:0006913)|oligodendrocyte differentiation (GO:0048709)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphorylation (GO:0016310)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein targeting to membrane (GO:0090314)|protein autophosphorylation (GO:0046777)|protein localization to synapse (GO:0035418)|receptor catabolic process (GO:0032801)|receptor clustering (GO:0043113)|regulated secretory pathway (GO:0045055)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|rhythmic process (GO:0048511)|Schwann cell development (GO:0014044)|sensory perception of pain (GO:0019233)|serine phosphorylation of STAT3 protein (GO:0033136)|skeletal muscle tissue development (GO:0007519)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)|visual learning (GO:0008542)	axon (GO:0030424)|cell junction (GO:0030054)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activator activity (GO:0030549)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|ErbB-2 class receptor binding (GO:0005176)|ErbB-3 class receptor binding (GO:0043125)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.A48T(1)		central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		TCCCGGAGGGCGGAACTCGGC	0.662																																						uc003wir.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(142-144)GCC>ACC		cyclin-dependent kinase 5 isoform 1							40.0	46.0	44.0					7																	150754047		2035	4157	6192	SO:0001583	missense	1020				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity	g.chr7:150754047C>T	X66364	CCDS47748.1, CCDS55184.1	7q36	2011-11-08			ENSG00000164885	ENSG00000164885		"""Cyclin-dependent kinases"""	1774	protein-coding gene	gene with protein product		123831				8275715, 1639063	Standard	NM_001164410		Approved	PSSALRE	uc003wir.2	Q00535	OTTHUMG00000158414	ENST00000485972.1:c.142G>A	7.37:g.150754047C>T	ENSP00000419782:p.Ala48Thr					CDK5_uc003wis.1_Missense_Mutation_p.A48T|SLC4A2_uc003wit.3_5'Flank	p.A48T	NM_004935	NP_004926	Q00535	CDK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)	3	203	-		Breast(660;0.159)|Ovarian(593;0.182)	48			Protein kinase.		A1XKG3	Missense_Mutation	SNP	ENST00000485972.1	37	c.142G>A	CCDS47748.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338914	0.81911	.	.	ENSG00000164885	ENST00000485972;ENST00000297518	T;T	0.45276	0.9;0.9	5.43	4.53	0.55603	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.055324	0.64402	D	0.000001	T	0.43233	0.1238	N	0.05592	-0.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.97	T	0.54351	-0.8307	10	0.87932	D	0	-20.5081	13.0945	0.59184	0.1614:0.8386:0.0:0.0	.	48;48	Q00535-2;Q00535	.;CDK5_HUMAN	T	48	ENSP00000419782:A48T;ENSP00000297518:A48T	ENSP00000297518:A48T	A	-	1	0	CDK5	150384980	1.000000	0.71417	0.880000	0.34516	0.633000	0.38033	5.347000	0.65998	1.462000	0.47948	0.655000	0.94253	GCC		PASS	0.662	CDK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350965.3			26	40	26	40	---	---	---	---
CYP7B1	9420	broad.mit.edu	37	8	65527680	65527680	+	Silent	SNP	G	G	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr8:65527680G>A	ENST00000310193.3	-	4	1133	c.960C>T	c.(958-960)gaC>gaT	p.D320D	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	320					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)	p.D320D(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				GGTCAATTTCGTCACGCACTG	0.488																																						uc003xvj.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(3)	3						c.(958-960)GAC>GAT		cytochrome P450, family 7, subfamily B,							105.0	97.0	100.0					8																	65527680		2203	4300	6503	SO:0001819	synonymous_variant	9420				bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr8:65527680G>A	AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.960C>T	8.37:g.65527680G>A							p.D320D	NM_004820	NP_004811	O75881	CP7B1_HUMAN			4	1164	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	320					B2RN07|Q9UNF5	Silent	SNP	ENST00000310193.3	37	c.960C>T	CCDS6180.1																																																																																				PASS	0.488	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			19	103	19	103	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77617343	77617343	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr8:77617343A>T	ENST00000521891.2	+	2	1468	c.1020A>T	c.(1018-1020)aaA>aaT	p.K340N	ZFHX4_ENST00000455469.2_Missense_Mutation_p.K340N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.K340N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.K340N|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	340					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.K340N(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACCAAAAAAATCCACTTCTG	0.433										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(1018-1020)AAA>AAT		zinc finger homeodomain 4							114.0	109.0	110.0					8																	77617343		1820	4088	5908	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617343A>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1020A>T	8.37:g.77617343A>T	ENSP00000430497:p.Lys340Asn	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.K340N|ZFHX4_uc003yau.1_Missense_Mutation_p.K340N|ZFHX4_uc003yaw.1_Missense_Mutation_p.K340N	p.K340N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	1407	+			340					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.1020A>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	9.753	1.168041	0.21621	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.49139	0.79;0.84;0.81;0.8	5.53	4.38	0.52667	.	0.000000	0.47455	U	0.000231	T	0.39200	0.1069	N	0.08118	0	0.54753	D	0.999988	P;D;D;B	0.55605	0.953;0.972;0.972;0.017	P;P;P;B	0.56398	0.631;0.691;0.797;0.008	T	0.18650	-1.0330	10	0.22706	T	0.39	.	11.5339	0.50626	0.9304:0.0:0.0696:0.0	.	340;340;340;340	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	N	340	ENSP00000430497:K340N;ENSP00000399605:K340N;ENSP00000050961:K340N;ENSP00000430848:K340N	ENSP00000050961:K340N	K	+	3	2	ZFHX4	77779898	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.511000	0.67024	1.109000	0.41680	0.533000	0.62120	AAA		PASS	0.433	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		100	132	100	132	---	---	---	---
LRRCC1	85444	broad.mit.edu	37	8	86037118	86037118	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr8:86037118C>T	ENST00000360375.3	+	8	1365	c.1216C>T	c.(1216-1218)Cca>Tca	p.P406S	LRRCC1_ENST00000414626.2_Missense_Mutation_p.P386S	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	406					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P406S(1)|p.P386S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ATCAGAAAAGCCAAAGACTGA	0.299																																						uc003ycw.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1216-1218)CCA>TCA		sodium channel associated protein 2 isoform a							78.0	78.0	78.0					8																	86037118		1812	4066	5878	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86037118C>T	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1216C>T	8.37:g.86037118C>T	ENSP00000353538:p.Pro406Ser					LRRCC1_uc010lzz.1_RNA|LRRCC1_uc010maa.1_Missense_Mutation_p.P107S|LRRCC1_uc003ycx.2_Missense_Mutation_p.P313S|LRRCC1_uc003ycy.2_Missense_Mutation_p.P386S	p.P406S	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN			8	1370	+			406					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.1216C>T	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	C	6.406	0.443118	0.12164	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.27720	1.65;1.65	4.63	4.63	0.57726	.	0.662303	0.12529	N	0.460982	T	0.16854	0.0405	N	0.08118	0	0.09310	N	1	B;B;B;B	0.23249	0.082;0.028;0.082;0.001	B;B;B;B	0.28011	0.085;0.031;0.085;0.001	T	0.08310	-1.0728	10	0.08179	T	0.78	-0.9414	13.3096	0.60371	0.0:1.0:0.0:0.0	.	313;386;313;406	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	S	406;386	ENSP00000353538:P406S;ENSP00000394695:P386S	ENSP00000353538:P406S	P	+	1	0	LRRCC1	86224370	0.053000	0.20554	0.112000	0.21494	0.876000	0.50452	1.941000	0.40233	2.865000	0.98341	0.655000	0.94253	CCA		PASS	0.299	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		54	159	54	159	---	---	---	---
CNGB3	54714	broad.mit.edu	37	8	87683247	87683247	+	Missense_Mutation	SNP	G	G	A	rs146488853	byFrequency	TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr8:87683247G>A	ENST00000320005.5	-	4	465	c.418C>T	c.(418-420)Cgt>Tgt	p.R140C		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	140					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.R140C(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GTTCTTTGACGCATTCTTTTC	0.473																																						uc003ydx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(418-420)CGT>TGT		cyclic nucleotide gated channel beta 3		G	CYS/ARG	0,4406		0,0,2203	245.0	249.0	247.0		418	4.8	1.0	8	dbSNP_134	247	1,8599	1.2+/-3.3	0,1,4299	no	missense	CNGB3	NM_019098.4	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	140/810	87683247	1,13005	2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87683247G>A	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.418C>T	8.37:g.87683247G>A	ENSP00000316605:p.Arg140Cys					CNGB3_uc010maj.2_Missense_Mutation_p.R2C	p.R140C	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			4	464	-			140			Cytoplasmic (Potential).		C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.418C>T	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787739	0.70337	0.0	1.16E-4	ENSG00000170289	ENST00000320005	T	0.61980	0.06	5.68	4.8	0.61643	.	0.262756	0.32328	N	0.006245	T	0.73418	0.3584	M	0.62723	1.935	0.51233	D	0.999918	D;D	0.89917	1.0;1.0	D;D	0.68943	0.961;0.915	T	0.75431	-0.3320	10	0.72032	D	0.01	.	10.1577	0.42833	0.0707:0.0:0.7927:0.1365	.	140;140	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	C	140	ENSP00000316605:R140C	ENSP00000316605:R140C	R	-	1	0	CNGB3	87752363	0.997000	0.39634	0.978000	0.43139	0.997000	0.91878	2.577000	0.46042	1.402000	0.46780	0.591000	0.81541	CGT		PASS	0.473	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		214	540	214	540	---	---	---	---
DCSTAMP	81501	broad.mit.edu	37	8	105361153	105361153	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr8:105361153A>T	ENST00000297581.2	+	2	422	c.373A>T	c.(373-375)Atg>Ttg	p.M125L	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.M125L|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	125					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.M125L(1)									CCTAGATGGTATGACTTGCAA	0.418																																						uc003ylx.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|large_intestine(1)|ovary(1)	4						c.(373-375)ATG>TTG		dendritic cell-specific transmembrane protein							77.0	82.0	81.0					8																	105361153		2203	4300	6503	SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361153A>T	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.373A>T	8.37:g.105361153A>T	ENSP00000297581:p.Met125Leu						p.M125L	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		2	422	+			125					B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	c.373A>T	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.317975	0.40996	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.26957	1.7	5.84	5.84	0.93424	.	0.079838	0.85682	D	0.000000	T	0.24314	0.0589	L	0.60455	1.87	0.37377	D	0.911887	B	0.23128	0.08	B	0.16289	0.015	T	0.13469	-1.0508	9	.	.	.	-37.9656	9.9668	0.41730	0.9244:0.0:0.0756:0.0	.	125	Q9H295	TM7S4_HUMAN	L	125	ENSP00000297581:M125L	.	M	+	1	0	TM7SF4	105430329	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.696000	0.61774	2.243000	0.73865	0.533000	0.62120	ATG		PASS	0.418	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		77	157	77	157	---	---	---	---
ADCY8	114	broad.mit.edu	37	8	132052079	132052079	+	Silent	SNP	T	T	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr8:132052079T>C	ENST00000286355.5	-	1	2593	c.501A>G	c.(499-501)gaA>gaG	p.E167E	ADCY8_ENST00000377928.3_Silent_p.E167E	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	167					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.E167E(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGTAGAGGCGTTCCAAATCCC	0.527										HNSCC(32;0.087)																												uc003ytd.3																			1	Substitution - coding silent(1)		lung(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(499-501)GAA>GAG		adenylate cyclase 8							66.0	66.0	66.0					8																	132052079		2203	4300	6503	SO:0001819	synonymous_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:132052079T>C	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.501A>G	8.37:g.132052079T>C		HNSCC(32;0.087)				ADCY8_uc010mds.2_Silent_p.E167E	p.E167E	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		1	757	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		167			Cytoplasmic (Potential).			Silent	SNP	ENST00000286355.5	37	c.501A>G	CCDS6363.1																																																																																				PASS	0.527	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			23	140	23	140	---	---	---	---
DENND3	22898	broad.mit.edu	37	8	142154342	142154342	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr8:142154342C>G	ENST00000262585.2	+	5	757	c.479C>G	c.(478-480)cCt>cGt	p.P160R	DENND3_ENST00000519811.1_Missense_Mutation_p.P240R|DENND3_ENST00000424248.1_Missense_Mutation_p.P160R	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	160	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.P160R(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCCCGCCACCTGGACCGCTC	0.363																																						uc003yvy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(478-480)CCT>CGT		DENN/MADD domain containing 3							61.0	62.0	62.0					8																	142154342		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142154342C>G	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.479C>G	8.37:g.142154342C>G	ENSP00000262585:p.Pro160Arg					DENND3_uc010mep.2_Missense_Mutation_p.P173R	p.P160R	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		5	757	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		160			DENN.		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.479C>G	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559121	0.45590	.	.	ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811;ENST00000523058	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	4.69	4.69	0.59074	DENN (3);	0.111524	0.64402	D	0.000007	T	0.43897	0.1268	M	0.85197	2.74	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.53027	-0.8496	10	0.87932	D	0	-13.5437	17.973	0.89119	0.0:1.0:0.0:0.0	.	240;160	E9PF32;A2RUS2	.;DEND3_HUMAN	R	160;160;240;240	ENSP00000262585:P160R;ENSP00000410594:P160R;ENSP00000428714:P240R;ENSP00000430786:P240R	ENSP00000262585:P160R	P	+	2	0	DENND3	142223524	1.000000	0.71417	0.395000	0.26283	0.069000	0.16628	6.370000	0.73114	2.322000	0.78497	0.561000	0.74099	CCT		PASS	0.363	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		114	105	114	105	---	---	---	---
SMARCA2	6595	broad.mit.edu	37	9	2081948	2081948	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr9:2081948G>A	ENST00000382203.1	+	15	2510	c.2301G>A	c.(2299-2301)atG>atA	p.M767I	SMARCA2_ENST00000357248.2_Missense_Mutation_p.M767I|SMARCA2_ENST00000382194.1_Missense_Mutation_p.M767I|SMARCA2_ENST00000349721.2_Missense_Mutation_p.M767I			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	767	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.M767I(1)|p.M763I(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CTTATCTGATGGAGCACAAAA	0.428																																						uc003zhc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(2299-2301)ATG>ATA		SWI/SNF-related matrix-associated							284.0	225.0	245.0					9																	2081948		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2081948G>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.2301G>A	9.37:g.2081948G>A	ENSP00000371638:p.Met767Ile					SMARCA2_uc003zhd.2_Missense_Mutation_p.M767I|SMARCA2_uc010mha.2_Missense_Mutation_p.M758I	p.M767I	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	15	2400	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	767			Helicase ATP-binding.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.2301G>A	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561900	0.45590	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1	5.41	5.41	0.78517	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.91432	0.7296	N	0.12961	0.28	0.80722	D	1	B;P;P	0.49559	0.081;0.908;0.925	B;D;D	0.67900	0.1;0.922;0.954	D	0.87967	0.2734	10	0.11182	T	0.66	-32.023	19.1951	0.93684	0.0:0.0:1.0:0.0	.	368;767;767	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	I	767	ENSP00000265773:M767I;ENSP00000349788:M767I;ENSP00000371638:M767I;ENSP00000371629:M767I	ENSP00000265773:M767I	M	+	3	0	SMARCA2	2071948	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.552000	0.86080	0.591000	0.81541	ATG		PASS	0.428	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		199	120	199	120	---	---	---	---
RFX3	5991	broad.mit.edu	37	9	3225139	3225139	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr9:3225139G>C	ENST00000382004.3	-	18	2464	c.2153C>G	c.(2152-2154)cCa>cGa	p.P718R		NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	718					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P718R(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CAGGAGGCTTGGTTGCACGCC	0.502																																						uc003zhr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2152-2154)CCA>CGA		regulatory factor X3 isoform b							122.0	111.0	115.0					9																	3225139		2203	4300	6503	SO:0001583	missense	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3225139G>C	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.2153C>G	9.37:g.3225139G>C	ENSP00000371434:p.Pro718Arg					RFX3_uc010mhd.2_Missense_Mutation_p.P718R	p.P718R	NM_134428	NP_602304	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	18	2465	-			718					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	c.2153C>G	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	G	8.672	0.903119	0.17760	.	.	ENSG00000080298	ENST00000382004	T	0.57273	0.41	5.7	4.73	0.59995	.	0.109437	0.64402	D	0.000004	T	0.40145	0.1105	L	0.34521	1.04	0.80722	D	1	B	0.29432	0.244	B	0.25140	0.058	T	0.35699	-0.9778	10	0.52906	T	0.07	-11.8356	11.3173	0.49399	0.0:0.0:0.6029:0.3971	.	718	P48380	RFX3_HUMAN	R	718	ENSP00000371434:P718R	ENSP00000371434:P718R	P	-	2	0	RFX3	3215139	1.000000	0.71417	0.871000	0.34182	0.987000	0.75469	3.516000	0.53436	2.686000	0.91538	0.643000	0.83706	CCA		PASS	0.502	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		22	57	22	57	---	---	---	---
MAMDC2	256691	broad.mit.edu	37	9	72741227	72741227	+	Silent	SNP	C	C	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr9:72741227C>A	ENST00000377182.4	+	6	1413	c.796C>A	c.(796-798)Cgg>Agg	p.R266R	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	266	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)	p.R266R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						CCTTTACACTCGGGATGTGGC	0.547																																						uc004ahm.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(796-798)CGG>AGG		MAM domain containing 2 precursor							69.0	63.0	65.0					9																	72741227		2203	4300	6503	SO:0001819	synonymous_variant	256691					endoplasmic reticulum|membrane		g.chr9:72741227C>A	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.796C>A	9.37:g.72741227C>A						MAMDC2_uc004ahn.2_RNA	p.R266R	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN			6	1413	+			266			MAM 2.		Q5VW47|Q8WX43|Q96BM4	Silent	SNP	ENST00000377182.4	37	c.796C>A	CCDS6631.1																																																																																				PASS	0.547	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	NM_153267		7	21	7	21	---	---	---	---
MAMDC2	256691	broad.mit.edu	37	9	72741230	72741230	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr9:72741230G>A	ENST00000377182.4	+	6	1416	c.799G>A	c.(799-801)Gat>Aat	p.D267N	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	267	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)	p.D267N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TTACACTCGGGATGTGGCTGG	0.552																																						uc004ahm.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(799-801)GAT>AAT		MAM domain containing 2 precursor							70.0	63.0	66.0					9																	72741230		2203	4300	6503	SO:0001583	missense	256691					endoplasmic reticulum|membrane		g.chr9:72741230G>A	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.799G>A	9.37:g.72741230G>A	ENSP00000366387:p.Asp267Asn					MAMDC2_uc004ahn.2_RNA	p.D267N	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN			6	1416	+			267			MAM 2.		Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	ENST00000377182.4	37	c.799G>A	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822151	0.90873	.	.	ENSG00000165072	ENST00000377182	T	0.02140	4.43	6.03	6.03	0.97812	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.85682	D	0.000000	T	0.14227	0.0344	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00599	-1.1651	10	0.32370	T	0.25	-27.638	20.5596	0.99324	0.0:0.0:1.0:0.0	.	267	Q7Z304	MAMC2_HUMAN	N	267	ENSP00000366387:D267N	ENSP00000366387:D267N	D	+	1	0	MAMDC2	71931050	1.000000	0.71417	0.998000	0.56505	0.704000	0.40688	9.476000	0.97823	2.868000	0.98415	0.555000	0.69702	GAT		PASS	0.552	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	NM_153267		10	22	10	22	---	---	---	---
TLE1	7088	broad.mit.edu	37	9	84202721	84202721	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr9:84202721C>G	ENST00000376499.3	-	17	2916	c.1852G>C	c.(1852-1854)Gga>Cga	p.G618R		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	618					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)	p.G618R(2)|p.G618*(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CAGCTGGCTCCGTCTGTGTGG	0.502																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	uc004aly.2																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(2)|endometrium(1)	ovary(1)|skin(1)	2						c.(1852-1854)GGA>CGA		transducin-like enhancer protein 1							79.0	78.0	78.0					9																	84202721		2203	4300	6503	SO:0001583	missense	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84202721C>G		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1852G>C	9.37:g.84202721C>G	ENSP00000365682:p.Gly618Arg					TLE1_uc004alz.2_Missense_Mutation_p.G628R|TLE1_uc011lsr.1_Missense_Mutation_p.G603R	p.G618R	NM_005077	NP_005068	Q04724	TLE1_HUMAN			17	2293	-			618			WD 4.		A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	ENST00000376499.3	37	c.1852G>C	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	c	32	5.189676	0.94923	.	.	ENSG00000196781	ENST00000376499	T	0.60797	0.16	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65471	0.2694	N	0.16790	0.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70368	-0.4891	10	0.87932	D	0	-12.0128	19.9738	0.97296	0.0:1.0:0.0:0.0	.	603;618	B4DEF9;Q04724	.;TLE1_HUMAN	R	618	ENSP00000365682:G618R	ENSP00000365682:G618R	G	-	1	0	TLE1	83392541	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.818000	0.86416	2.732000	0.93576	0.655000	0.94253	GGA		PASS	0.502	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		44	23	44	23	---	---	---	---
FRMD3	257019	broad.mit.edu	37	9	85863243	85863243	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr9:85863243C>G	ENST00000304195.3	-	14	1590	c.1384G>C	c.(1384-1386)Gag>Cag	p.E462Q	FRMD3_ENST00000376438.1_Missense_Mutation_p.E462Q|FRMD3_ENST00000328788.1_Missense_Mutation_p.E119Q|FRMD3_ENST00000376434.1_Missense_Mutation_p.E268Q|FRMD3_ENST00000465485.1_5'UTR	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	462						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)		p.E462Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						ATGTCAATCTCATCGTCATCC	0.433																																						uc004ams.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1384-1386)GAG>CAG		FERM domain containing 3							153.0	149.0	150.0					9																	85863243		1969	4153	6122	SO:0001583	missense	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85863243C>G	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1384G>C	9.37:g.85863243C>G	ENSP00000303508:p.Glu462Gln					FRMD3_uc004amr.1_Missense_Mutation_p.E448Q|FRMD3_uc004amq.1_Missense_Mutation_p.E119Q	p.E462Q	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN			14	1586	-			462					A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	c.1384G>C	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756357	0.31137	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000328788;ENST00000304195	D;D;T;D	0.86030	-1.66;-2.06;0.89;-1.66	5.68	5.68	0.88126	.	0.112601	0.64402	D	0.000007	D	0.88588	0.6477	L	0.38175	1.15	0.41111	D	0.985747	B;B;D	0.71674	0.011;0.054;0.998	B;B;D	0.80764	0.017;0.03;0.994	D	0.87211	0.2247	10	0.35671	T	0.21	.	16.7834	0.85568	0.0:1.0:0.0:0.0	.	462;462;119	A2A2Y4;A2A2Y4-2;A2A2Y4-4	FRMD3_HUMAN;.;.	Q	462;268;119;462	ENSP00000365621:E462Q;ENSP00000365617:E268Q;ENSP00000328615:E119Q;ENSP00000303508:E462Q	ENSP00000303508:E462Q	E	-	1	0	FRMD3	85053063	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	7.381000	0.79718	2.707000	0.92482	0.650000	0.86243	GAG		PASS	0.433	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		58	179	58	179	---	---	---	---
ZNF883	169834	broad.mit.edu	37	9	115760453	115760453	+	lincRNA	SNP	G	G	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr9:115760453G>T	ENST00000427548.1	-	0	1360							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TCTGATGCTGGGTCAGGGATG	0.383																																						uc011lwy.1																			0					0						c.(85-87)ACC>ACA		hypothetical protein LOC169834							69.0	71.0	71.0					9																	115760453		1987	4195	6182			169834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:115760453G>T	AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115760453G>T							p.T29T	NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN			5	1326	-			29			C2H2-type 1.			Silent	SNP	ENST00000427548.1	37	c.87C>A																																																																																					PASS	0.383	ZNF883-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053704.1	NM_001101338		124	59	124	59	---	---	---	---
FAM102A	399665	broad.mit.edu	37	9	130710472	130710472	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr9:130710472G>A	ENST00000373095.1	-	6	869	c.494C>T	c.(493-495)cCa>cTa	p.P165L	FAM102A_ENST00000300434.3_Intron|FAM102A_ENST00000373084.4_Missense_Mutation_p.P23L	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	165	Ser-rich.							p.P165L(1)		breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						ATCCTGGCCTGGGATGGAGAT	0.617																																						uc004bsx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(493-495)CCA>CTA		early estrogen-induced gene 1 protein isoform a							92.0	81.0	85.0					9																	130710472		2203	4300	6503	SO:0001583	missense	399665							g.chr9:130710472G>A		CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106			31419	protein-coding gene	gene with protein product	"""sym-3 homolog A (C. elegans)"""	610891	"""chromosome 9 open reading frame 132"""	C9orf132			Standard	NM_001035254		Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.494C>T	9.37:g.130710472G>A	ENSP00000362187:p.Pro165Leu					FAM102A_uc004bsw.1_Missense_Mutation_p.P23L|FAM102A_uc004bsy.1_5'UTR	p.P165L	NM_001035254	NP_001030331	Q5T9C2	F102A_HUMAN			6	573	-			165			Ser-rich.		A2A329|Q8TEL4	Missense_Mutation	SNP	ENST00000373095.1	37	c.494C>T	CCDS35150.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.862840	0.71949	.	.	ENSG00000167106	ENST00000373095;ENST00000373084	.	.	.	4.99	4.99	0.66335	.	0.183138	0.48286	D	0.000192	T	0.47801	0.1465	L	0.61218	1.895	0.80722	D	1	P	0.50272	0.933	B	0.35859	0.212	T	0.60078	-0.7333	9	0.87932	D	0	-11.2742	15.0085	0.71530	0.0:0.0:1.0:0.0	.	165	Q5T9C2	F102A_HUMAN	L	165;23	.	ENSP00000362176:P23L	P	-	2	0	FAM102A	129750293	1.000000	0.71417	0.968000	0.41197	0.986000	0.74619	7.269000	0.78482	2.307000	0.77673	0.563000	0.77884	CCA		PASS	0.617	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054298.2			39	34	39	34	---	---	---	---
SETX	23064	broad.mit.edu	37	9	135203765	135203765	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr9:135203765C>T	ENST00000224140.5	-	10	3402	c.3220G>A	c.(3220-3222)Gag>Aag	p.E1074K	SETX_ENST00000372169.2_Missense_Mutation_p.E1074K|SETX_ENST00000393220.1_Missense_Mutation_p.E1074K	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1074					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)	p.E1074K(1)		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)		TCAGATTCCTCAAACTGAAAA	0.383																																						uc004cbk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(3220-3222)GAG>AAG		senataxin							107.0	110.0	109.0					9																	135203765		2202	4300	6502	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135203765C>T	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.3220G>A	9.37:g.135203765C>T	ENSP00000224140:p.Glu1074Lys					SETX_uc004cbj.2_Missense_Mutation_p.E693K|SETX_uc010mzt.2_Missense_Mutation_p.E693K	p.E1074K	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	3403	-		Myeloproliferative disorder(178;0.204)	1074					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.3220G>A	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596710	0.66332	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.89270	-2.42;-2.49;-2.12	5.32	5.32	0.75619	.	2.161880	0.01781	N	0.031792	D	0.93523	0.7933	L	0.34521	1.04	0.41520	D	0.988399	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.965;0.993	T	0.82458	-0.0447	10	0.72032	D	0.01	.	18.3679	0.90398	0.0:1.0:0.0:0.0	.	1074;1074;1074	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	K	1074	ENSP00000224140:E1074K;ENSP00000361242:E1074K;ENSP00000376913:E1074K	ENSP00000224140:E1074K	E	-	1	0	SETX	134193586	0.997000	0.39634	0.983000	0.44433	0.095000	0.18619	3.836000	0.55813	2.634000	0.89283	0.655000	0.94253	GAG		PASS	0.383	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		128	92	128	92	---	---	---	---
PPP1R26	9858	broad.mit.edu	37	9	138378032	138378032	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr9:138378032C>T	ENST00000356818.2	+	4	2225	c.1676C>T	c.(1675-1677)cCg>cTg	p.P559L	PPP1R26_ENST00000604351.1_Missense_Mutation_p.P559L|PPP1R26_ENST00000401470.3_Missense_Mutation_p.P559L|PPP1R26_ENST00000605660.1_Missense_Mutation_p.P559L|PPP1R26_ENST00000605286.1_Missense_Mutation_p.P559L|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	559					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)	p.P559Q(1)|p.P559L(1)									GAGAGCTGCCCGCAGGCTGCC	0.617																																						uc004cfr.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(1675-1677)CCG>CTG		1A6/DRIM (down-regulated in metastasis)							80.0	90.0	87.0					9																	138378032		2201	4298	6499	SO:0001583	missense	9858					nucleolus	protein binding	g.chr9:138378032C>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1676C>T	9.37:g.138378032C>T	ENSP00000349274:p.Pro559Leu						p.P559L	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)	4	2225	+			559					Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	c.1676C>T	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911338	0.72983	.	.	ENSG00000196422	ENST00000356818	T	0.21543	2.0	5.55	5.55	0.83447	.	0.462777	0.23483	N	0.047681	T	0.42653	0.1212	L	0.56769	1.78	0.20307	N	0.999912	D	0.76494	0.999	P	0.61940	0.896	T	0.24225	-1.0166	10	0.72032	D	0.01	-7.2682	18.4846	0.90824	0.0:1.0:0.0:0.0	.	559	Q5T8A7	PPR26_HUMAN	L	559	ENSP00000349274:P559L	ENSP00000349274:P559L	P	+	2	0	KIAA0649	137517853	0.001000	0.12720	0.141000	0.22245	0.006000	0.05464	1.477000	0.35431	2.601000	0.87937	0.561000	0.74099	CCG		PASS	0.617	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		105	95	105	95	---	---	---	---
FAM107B	83641	broad.mit.edu	37	10	14816587	14816587	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr10:14816587C>G	ENST00000181796.2	-	1	309	c.76G>C	c.(76-78)Gct>Cct	p.A26P		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0					sensory perception of sound (GO:0007605)			p.A26P(1)		breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCGAGCAGAGCTGAGCACGGA	0.517																																						uc001ina.1																			1	Substitution - Missense(1)		lung(1)	breast(4)	4						c.(76-78)GCT>CCT		hypothetical protein LOC83641							103.0	80.0	88.0					10																	14816587		2203	4300	6503	SO:0001583	missense	83641							g.chr10:14816587C>G	AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 45"""	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000181796.2:c.76G>C	10.37:g.14816587C>G	ENSP00000181796:p.Ala26Pro					FAM107B_uc010qbu.1_RNA	p.A26P	NM_031453	NP_113641	Q9H098	F107B_HUMAN			1	310	-			Error:Variant_position_missing_in_Q9H098_after_alignment					A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Missense_Mutation	SNP	ENST00000181796.2	37	c.76G>C	CCDS7102.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006196	0.35415	.	.	ENSG00000065809	ENST00000181796	T	0.59364	0.27	5.84	4.94	0.65067	.	0.079225	0.51477	D	0.000092	T	0.61887	0.2383	L	0.27053	0.805	0.80722	D	1	D	0.67145	0.996	D	0.63957	0.92	T	0.66360	-0.5943	10	0.87932	D	0	-18.6743	13.0328	0.58851	0.0:0.9248:0.0:0.0752	.	26	Q9H098-2	.	P	26	ENSP00000181796:A26P	ENSP00000181796:A26P	A	-	1	0	FAM107B	14856593	0.947000	0.32204	0.438000	0.26821	0.304000	0.27724	2.588000	0.46137	1.472000	0.48140	0.650000	0.86243	GCT		PASS	0.517	FAM107B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356966.1	NM_031453		24	64	24	64	---	---	---	---
PTER	9317	broad.mit.edu	37	10	16526710	16526710	+	Silent	SNP	G	G	T	rs147446984	byFrequency	TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr10:16526710G>T	ENST00000378000.1	+	3	573	c.327G>T	c.(325-327)acG>acT	p.T109T	PTER_ENST00000535784.2_Silent_p.T109T|PTER_ENST00000298942.3_Silent_p.T109T|PTER_ENST00000423462.2_Silent_p.T109T|PTER_ENST00000485788.1_3'UTR	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	109					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)	p.T109T(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						ACACACAGACGTTGAAGAGGC	0.488																																					Ovarian(2;46 150 15648 38137 47908)	uc001iog.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(325-327)ACG>ACT		phosphotriesterase related							70.0	72.0	71.0					10																	16526710		2203	4300	6503	SO:0001819	synonymous_variant	9317				catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding	g.chr10:16526710G>T	BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.327G>T	10.37:g.16526710G>T						PTER_uc001ioh.1_Silent_p.T109T|PTER_uc001ioi.1_Silent_p.T109T|PTER_uc009xjp.1_Silent_p.T109T	p.T109T	NM_030664	NP_109589	Q96BW5	PTER_HUMAN			3	534	+			109					B0YJ77|B3KTF5|D3DRU0|Q9BY46	Silent	SNP	ENST00000378000.1	37	c.327G>T	CCDS7111.1																																																																																				PASS	0.488	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047001.2	NM_030664		48	31	48	31	---	---	---	---
APBB1IP	54518	broad.mit.edu	37	10	26855898	26855898	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr10:26855898G>C	ENST00000376236.4	+	15	1937	c.1482G>C	c.(1480-1482)aaG>aaC	p.K494N	APBB1IP_ENST00000493857.1_3'UTR	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	494					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)		p.K494N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AGGATAAGAAGCCAGCCCTCG	0.542																																						uc001iss.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|skin(2)|central_nervous_system(1)	7						c.(1480-1482)AAG>AAC		amyloid beta (A4) precursor protein-binding,							10.0	13.0	12.0					10																	26855898		1483	2946	4429	SO:0001583	missense	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26855898G>C	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.1482G>C	10.37:g.26855898G>C	ENSP00000365411:p.Lys494Asn						p.K494N	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN			15	1803	+			494					Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	ENST00000376236.4	37	c.1482G>C	CCDS31167.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.787037	0.31593	.	.	ENSG00000077420	ENST00000445780;ENST00000376236	T	0.32988	1.43	5.3	1.3	0.21679	.	1.011690	0.07913	N	0.974564	T	0.31670	0.0804	M	0.78916	2.43	0.25918	N	0.983154	P	0.49961	0.93	B	0.41571	0.36	T	0.23691	-1.0181	10	0.28530	T	0.3	.	4.1002	0.10010	0.2627:0.0:0.5755:0.1617	.	494	Q7Z5R6	AB1IP_HUMAN	N	494	ENSP00000365411:K494N	ENSP00000365411:K494N	K	+	3	2	APBB1IP	26895904	0.942000	0.31987	0.059000	0.19551	0.577000	0.36160	1.100000	0.31025	-0.013000	0.14199	-0.216000	0.12614	AAG		PASS	0.542	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		18	14	18	14	---	---	---	---
SVIL	6840	broad.mit.edu	37	10	29770543	29770543	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr10:29770543C>G	ENST00000355867.4	-	28	5822	c.5070G>C	c.(5068-5070)gaG>gaC	p.E1690D	PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.E604D|SVIL_ENST00000460007.1_5'UTR|SVIL_ENST00000375398.2_Missense_Mutation_p.E1690D|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.E1264D|SVIL_ENST00000538146.1_Missense_Mutation_p.E482D|PTCHD3P1_ENST00000446807.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1690					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.E1690D(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CGGGGTTCTTCTCATTCGATC	0.498																																						uc001iut.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(5068-5070)GAG>GAC		supervillin isoform 2							194.0	215.0	208.0					10																	29770543		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29770543C>G	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5070G>C	10.37:g.29770543C>G	ENSP00000348128:p.Glu1690Asp					LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.E604D|SVIL_uc001iuu.1_Missense_Mutation_p.E1264D|SVIL_uc009xlc.2_Missense_Mutation_p.E482D	p.E1690D	NM_021738	NP_068506	O95425	SVIL_HUMAN			28	5823	-		Breast(68;0.103)	1690					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.5070G>C	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293038	0.23564	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3	3.94	2.0	0.26442	.	0.478136	0.24240	N	0.040279	T	0.14657	0.0354	L	0.45581	1.43	0.48762	D	0.999705	B;B;B;B	0.17465	0.003;0.022;0.022;0.013	B;B;B;B	0.18561	0.02;0.015;0.022;0.01	T	0.06552	-1.0820	10	0.39692	T	0.17	-28.6324	9.5409	0.39251	0.0:0.7684:0.1465:0.085	.	604;482;1264;1690	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	D	1264;1690;1690;604;644;482	ENSP00000364549:E1264D;ENSP00000364547:E1690D;ENSP00000348128:E1690D;ENSP00000445472:E604D;ENSP00000440343:E482D	ENSP00000348128:E1690D	E	-	3	2	SVIL	29810549	0.999000	0.42202	0.992000	0.48379	0.192000	0.23643	0.583000	0.23849	0.967000	0.38186	0.561000	0.74099	GAG		PASS	0.498	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			14	621	14	621	---	---	---	---
ZNF33B	7582	broad.mit.edu	37	10	43127419	43127419	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr10:43127419G>C	ENST00000359467.3	-	4	322	c.208C>G	c.(208-210)Cca>Gca	p.P70A	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	70	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P70A(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						AGTCTCCATGGTTCTTCTCCT	0.443																																					Melanoma(137;1247 1767 16772 25727 43810)	uc001jaf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(208-210)CCA>GCA		zinc finger protein 33B							264.0	259.0	261.0					10																	43127419		2203	4300	6503	SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43127419G>C	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.208C>G	10.37:g.43127419G>C	ENSP00000352444:p.Pro70Ala					ZNF33B_uc009xmg.1_Missense_Mutation_p.P70A|ZNF33B_uc001jae.1_RNA|ZNF33B_uc001jag.1_5'UTR	p.P70A	NM_006955	NP_008886	Q06732	ZN33B_HUMAN			4	323	-			70			KRAB.		Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	c.208C>G	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026871	0.54683	.	.	ENSG00000196693	ENST00000359467	T	0.37584	1.19	1.58	1.58	0.23477	Krueppel-associated box (2);	.	.	.	.	T	0.53222	0.1783	M	0.71581	2.175	0.09310	N	1	D;D	0.76494	0.97;0.999	P;D	0.78314	0.681;0.991	T	0.28106	-1.0054	9	0.62326	D	0.03	.	6.6631	0.23024	0.0:0.0:1.0:0.0	.	70;70	Q3B799;Q06732	.;ZN33B_HUMAN	A	70	ENSP00000352444:P70A	ENSP00000352444:P70A	P	-	1	0	ZNF33B	42447425	0.869000	0.29996	0.250000	0.24296	0.729000	0.41735	1.984000	0.40658	1.193000	0.43086	0.531000	0.56144	CCA		PASS	0.443	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		15	515	15	515	---	---	---	---
GDF10	2662	broad.mit.edu	37	10	48429014	48429014	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr10:48429014G>T	ENST00000224605.2	-	2	1137	c.872C>A	c.(871-873)gCc>gAc	p.A291D		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	291					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)	p.A291D(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGCCTGCGCGGCTCGGCGCAC	0.721																																						uc001jfb.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(871-873)GCC>GAC		growth differentiation factor 10 precursor							6.0	9.0	8.0					10																	48429014		2117	4084	6201	SO:0001583	missense	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48429014G>T	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.872C>A	10.37:g.48429014G>T	ENSP00000224605:p.Ala291Asp					GDF10_uc009xnp.2_Missense_Mutation_p.A290D|GDF10_uc009xnq.1_Missense_Mutation_p.A291D	p.A291D	NM_004962	NP_004953	P55107	BMP3B_HUMAN			2	1328	-			291					Q5VSQ8|Q9UCX6	Missense_Mutation	SNP	ENST00000224605.2	37	c.872C>A	CCDS7220.1	.	.	.	.	.	.	.	.	.	.	G	6.193	0.403715	0.11754	.	.	ENSG00000107623	ENST00000374247;ENST00000224605	T	0.74526	-0.85	5.6	3.59	0.41128	.	0.101452	0.64402	D	0.000003	T	0.54224	0.1845	N	0.25144	0.715	0.28315	N	0.922499	B;B	0.10296	0.002;0.003	B;B	0.08055	0.003;0.003	T	0.35992	-0.9766	10	0.18276	T	0.48	.	6.312	0.21171	0.0955:0.0:0.5534:0.3511	.	101;291	Q8N6T2;P55107	.;BMP3B_HUMAN	D	101;291	ENSP00000224605:A291D	ENSP00000224605:A291D	A	-	2	0	GDF10	48049020	1.000000	0.71417	0.881000	0.34555	0.295000	0.27426	3.776000	0.55356	1.387000	0.46486	0.561000	0.74099	GCC		PASS	0.721	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		7	3	7	3	---	---	---	---
NLRP6	171389	broad.mit.edu	37	11	281741	281741	+	Silent	SNP	A	A	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr11:281741A>C	ENST00000312165.5	+	4	2007	c.2007A>C	c.(2005-2007)ggA>ggC	p.G669G	NLRP6_ENST00000534750.1_Silent_p.G669G	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	669					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)	p.G669G(1)		breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCCCTGCTGGACAGGCACTGC	0.652																																						uc010qvs.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.(2005-2007)GGA>GGC		NLR family, pyrin domain containing 6							53.0	56.0	55.0					11																	281741		2203	4300	6503	SO:0001819	synonymous_variant	171389					cytoplasm	ATP binding	g.chr11:281741A>C	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.2007A>C	11.37:g.281741A>C						NLRP6_uc010qvt.1_Silent_p.G669G	p.G669G	NM_138329	NP_612202	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	2007	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	669					A8K9F3|E9PJZ8	Silent	SNP	ENST00000312165.5	37	c.2007A>C	CCDS7693.1																																																																																				PASS	0.652	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		28	79	28	79	---	---	---	---
MUC2	4583	broad.mit.edu	37	11	1093584	1093584	+	Silent	SNP	A	A	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr11:1093584A>T	ENST00000441003.2	+	30	5430	c.5403A>T	c.(5401-5403)gcA>gcT	p.A1801A	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Silent_p.A1757A|MUC2_ENST00000333592.6_Silent_p.A89A	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.A1801A(1)|p.A1757A(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	cGGTGACCGCAACCCCAACAC	0.592																																						uc001lsx.1																			2	Substitution - coding silent(2)		lung(2)	lung(1)|breast(1)	2						c.(12487-12489)CCA>CCT		mucin 2 precursor	Pranlukast(DB01411)						96.0	129.0	118.0					11																	1093584		2191	4264	6455	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1093584A>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5403A>T	11.37:g.1093584A>T							p.P4163P	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	12516	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	4163	P -> A (in Ref. 4).				Q14878	Silent	SNP	ENST00000441003.2	37	c.12489A>T																																																																																					PASS	0.592	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		15	28	15	28	---	---	---	---
OR51I1	390063	broad.mit.edu	37	11	5462167	5462167	+	Missense_Mutation	SNP	T	T	C	rs374695087		TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr11:5462167T>C	ENST00000380211.1	-	1	577	c.578A>G	c.(577-579)gAc>gGc	p.D193G	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	193					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D193G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACATGGATGTCTCCACATGC	0.443																																						uc010qze.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(577-579)GAC>GGC		olfactory receptor, family 51, subfamily I,							71.0	70.0	70.0					11																	5462167		2201	4297	6498	SO:0001583	missense	390063				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5462167T>C	BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"""GPCR / Class A : Olfactory receptors"""	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.578A>G	11.37:g.5462167T>C	ENSP00000369559:p.Asp193Gly					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.D193G	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	578	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	193			Extracellular (Potential).		B9EKW2|Q6IF33	Missense_Mutation	SNP	ENST00000380211.1	37	c.578A>G	CCDS31382.1	.	.	.	.	.	.	.	.	.	.	T	17.35	3.366987	0.61513	.	.	ENSG00000167359	ENST00000321307;ENST00000380211	T	0.00262	8.4	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000017	T	0.00784	0.0026	M	0.91196	3.185	0.25334	N	0.989002	D	0.76494	0.999	D	0.85130	0.997	T	0.27123	-1.0083	10	0.87932	D	0	.	14.5278	0.67900	0.0:0.0:0.0:1.0	.	193	Q9H343	O51I1_HUMAN	G	190;193	ENSP00000369559:D193G	ENSP00000439622:D190G	D	-	2	0	OR51I1	5418743	0.409000	0.25368	0.955000	0.39395	0.962000	0.63368	2.199000	0.42715	2.096000	0.63516	0.450000	0.29827	GAC		PASS	0.443	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288		16	48	16	48	---	---	---	---
OR51I2	390064	broad.mit.edu	37	11	5474866	5474866	+	Silent	SNP	C	C	A	rs145725236		TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr11:5474866C>A	ENST00000341449.2	+	1	229	c.148C>A	c.(148-150)Cga>Aga	p.R50R	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	50					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R50R(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGGCTGTGCGAGTGGAGCC	0.577																																						uc010qzf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(148-150)CGA>AGA		olfactory receptor, family 51, subfamily I,							105.0	91.0	96.0					11																	5474866		2201	4297	6498	SO:0001819	synonymous_variant	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5474866C>A	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.148C>A	11.37:g.5474866C>A						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.R50R	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	148	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	50			Cytoplasmic (Potential).		Q6IF81	Silent	SNP	ENST00000341449.2	37	c.148C>A	CCDS31383.1																																																																																				PASS	0.577	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		25	62	25	62	---	---	---	---
EIF4G2	1982	broad.mit.edu	37	11	10825569	10825569	+	Silent	SNP	G	G	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr11:10825569G>A	ENST00000526148.1	-	8	1089	c.579C>T	c.(577-579)ctC>ctT	p.L193L	EIF4G2_ENST00000525995.1_5'Flank|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000339995.5_Silent_p.L193L|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000525681.1_Silent_p.L193L|EIF4G2_ENST00000396525.2_Silent_p.L193L	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.L193L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CCTCCTCGGGGAGGAGGGGAT	0.388																																						uc001mjc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(577-579)CTC>CTT		eukaryotic translation initiation factor 4							76.0	73.0	74.0					11																	10825569		2201	4294	6495	SO:0001819	synonymous_variant	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10825569G>A	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.579C>T	11.37:g.10825569G>A						EIF4G2_uc001mjb.2_5'UTR|EIF4G2_uc009ygf.2_5'UTR|EIF4G2_uc001mjd.2_Silent_p.L193L|EIF4G2_uc001mjf.1_5'UTR|SNORD97_uc009yge.2_5'Flank	p.L193L	NM_001418	NP_001409	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	8	996	-			193			MIF4G.			Silent	SNP	ENST00000526148.1	37	c.579C>T	CCDS31428.1																																																																																				PASS	0.388	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		35	104	35	104	---	---	---	---
DGKZ	8525	broad.mit.edu	37	11	46397475	46397475	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr11:46397475A>G	ENST00000454345.1	+	22	2674	c.2549A>G	c.(2548-2550)tAc>tGc	p.Y850C	DGKZ_ENST00000528615.1_Missense_Mutation_p.Y440C|DGKZ_ENST00000343674.6_Missense_Mutation_p.Y678C|DGKZ_ENST00000318201.8_Missense_Mutation_p.Y639C|MIR4688_ENST00000577966.1_RNA|DGKZ_ENST00000532868.2_Missense_Mutation_p.Y666C|DGKZ_ENST00000421244.2_Missense_Mutation_p.Y662C|DGKZ_ENST00000395574.3_Missense_Mutation_p.Y628C|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000456247.2_Missense_Mutation_p.Y661C|DGKZ_ENST00000527911.1_Missense_Mutation_p.Y662C	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	850					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)	p.Y850C(1)|p.Y662C(1)|p.Y678C(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GCCCTGCACTACGACAAGGAG	0.701																																						uc001ncn.1																			3	Substitution - Missense(3)		lung(3)	pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(2548-2550)TAC>TGC		diacylglycerol kinase zeta isoform 4							22.0	21.0	21.0					11																	46397475		2197	4299	6496	SO:0001583	missense	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46397475A>G	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.2549A>G	11.37:g.46397475A>G	ENSP00000412178:p.Tyr850Cys					DGKZ_uc001nch.1_Missense_Mutation_p.Y678C|DGKZ_uc010rgq.1_Missense_Mutation_p.Y605C|DGKZ_uc001ncj.1_Missense_Mutation_p.Y628C|DGKZ_uc010rgr.1_Missense_Mutation_p.Y627C|DGKZ_uc001nck.1_Missense_Mutation_p.Y440C|DGKZ_uc001ncl.2_Missense_Mutation_p.Y662C|DGKZ_uc001ncm.2_Missense_Mutation_p.Y661C|DGKZ_uc009yky.1_Missense_Mutation_p.Y662C|DGKZ_uc010rgs.1_Missense_Mutation_p.Y639C	p.Y850C	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	22	2674	+			850					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	c.2549A>G	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.173226	0.78452	.	.	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	T;T;T;T;T;T;T;T;T	0.26373	2.33;2.55;2.54;2.59;3.51;2.35;2.41;2.52;1.74	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.48714	0.1515	M	0.69523	2.12	0.80722	D	1	B;B;D;D;P;P;D;D;B	0.89917	0.378;0.423;0.999;0.999;0.551;0.511;1.0;0.999;0.378	B;B;D;D;B;B;D;D;B	0.72075	0.168;0.301;0.957;0.947;0.214;0.251;0.976;0.947;0.127	T	0.51679	-0.8675	10	0.56958	D	0.05	.	13.9894	0.64357	1.0:0.0:0.0:0.0	.	639;627;605;662;850;661;662;628;678	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.	C	678;440;628;627;662;661;662;639;850	ENSP00000343065:Y678C;ENSP00000434719:Y440C;ENSP00000378941:Y628C;ENSP00000436273:Y627C;ENSP00000436291:Y662C;ENSP00000395684:Y661C;ENSP00000391021:Y662C;ENSP00000320340:Y639C;ENSP00000412178:Y850C	ENSP00000320340:Y639C	Y	+	2	0	DGKZ	46354051	1.000000	0.71417	0.993000	0.49108	0.880000	0.50808	9.071000	0.93980	1.964000	0.57103	0.379000	0.24179	TAC		PASS	0.701	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		11	9	11	9	---	---	---	---
OR5W2	390148	broad.mit.edu	37	11	55681828	55681828	+	Silent	SNP	A	A	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr11:55681828A>T	ENST00000344514.1	-	1	230	c.231T>A	c.(229-231)acT>acA	p.T77T		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T77T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCTTGGGCCCAGTTGCAGTAG	0.413																																					Melanoma(48;171 1190 15239 43886 49348)	uc010rir.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(229-231)ACT>ACA		olfactory receptor, family 5, subfamily W,							130.0	123.0	125.0					11																	55681828		2201	4296	6497	SO:0001819	synonymous_variant	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681828A>T	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.231T>A	11.37:g.55681828A>T							p.T77T	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			1	231	-			77			Extracellular (Potential).			Silent	SNP	ENST00000344514.1	37	c.231T>A	CCDS31513.1																																																																																				PASS	0.413	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		44	86	44	86	---	---	---	---
OR8H1	219469	broad.mit.edu	37	11	56057972	56057972	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr11:56057972C>A	ENST00000313022.2	-	1	594	c.567G>T	c.(565-567)atG>atT	p.M189I		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M189I(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					CGTATGTGTCCATGCAGGACA	0.428																																						uc010rje.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(565-567)ATG>ATT		olfactory receptor, family 8, subfamily H,							132.0	118.0	122.0					11																	56057972		2201	4296	6497	SO:0001583	missense	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56057972C>A	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.567G>T	11.37:g.56057972C>A	ENSP00000323595:p.Met189Ile						p.M189I	NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN			1	567	-	Esophageal squamous(21;0.00448)		189			Extracellular (Potential).		B2RNI7|Q6IFC5	Missense_Mutation	SNP	ENST00000313022.2	37	c.567G>T	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.456721	0.26161	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.00058	8.79	3.81	-4.34	0.03666	GPCR, rhodopsin-like superfamily (1);	0.504572	0.18524	N	0.138695	T	0.00073	0.0002	N	0.10972	0.075	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37820	-0.9689	10	0.87932	D	0	.	5.577	0.17228	0.2835:0.3238:0.0:0.3927	.	189	Q8NGG4	OR8H1_HUMAN	I	189;185	ENSP00000323595:M189I	ENSP00000323595:M189I	M	-	3	0	OR8H1	55814548	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-6.057000	0.00083	-0.533000	0.06323	-0.242000	0.12053	ATG		PASS	0.428	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		60	131	60	131	---	---	---	---
OR5M11	219487	broad.mit.edu	37	11	56309961	56309961	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr11:56309961T>C	ENST00000528616.2	-	1	796	c.773A>G	c.(772-774)tAt>tGt	p.Y258C		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y258C(1)|p.Y259C(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TGGTCTTATATACATGCAAAA	0.433																																						uc010rjl.1																			2	Substitution - Missense(2)		lung(2)		0						c.(772-774)TAT>TGT		olfactory receptor, family 5, subfamily M,							111.0	108.0	109.0					11																	56309961		1931	4146	6077	SO:0001583	missense	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56309961T>C	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.773A>G	11.37:g.56309961T>C	ENSP00000432417:p.Tyr258Cys						p.Y258C	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN			1	773	-			258			Extracellular (Potential).		B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	c.773A>G	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	T	12.47	1.946258	0.34377	.	.	ENSG00000255223	ENST00000528616	T	0.00295	8.25	4.85	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00524	0.0017	M	0.90759	3.145	0.27640	N	0.947757	P	0.40909	0.732	P	0.47470	0.548	T	0.07790	-1.0754	9	0.87932	D	0	.	9.2791	0.37718	0.1612:0.0:0.0:0.8388	.	258	Q96RB7	OR5MB_HUMAN	C	258	ENSP00000432417:Y258C	ENSP00000432417:Y258C	Y	-	2	0	OR5M11	56066537	0.857000	0.29778	1.000000	0.80357	0.629000	0.37895	1.597000	0.36729	0.889000	0.36185	0.514000	0.50259	TAT		PASS	0.433	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		52	88	52	88	---	---	---	---
OR4D11	219986	broad.mit.edu	37	11	59271632	59271632	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr11:59271632T>A	ENST00000313253.1	+	1	584	c.584T>A	c.(583-585)cTt>cAt	p.L195H		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L195H(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						ACTTTTGCTCTTGAGTTCTTG	0.488																																						uc001noa.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(583-585)CTT>CAT		olfactory receptor, family 4, subfamily D,							229.0	217.0	221.0					11																	59271632		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271632T>A	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.584T>A	11.37:g.59271632T>A	ENSP00000320077:p.Leu195His						p.L195H	NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN			1	584	+			195			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000313253.1	37	c.584T>A	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	t	10.10	1.256992	0.22965	.	.	ENSG00000176200	ENST00000313253	T	0.00107	8.72	5.44	4.32	0.51571	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44097	D	0.000485	T	0.00300	0.0009	L	0.48642	1.525	0.09310	N	1	D	0.76494	0.999	D	0.76575	0.988	T	0.55642	-0.8109	10	0.72032	D	0.01	-19.9254	9.7213	0.40304	0.0:0.0822:0.0:0.9178	.	195	Q8NGI4	OR4DB_HUMAN	H	195	ENSP00000320077:L195H	ENSP00000320077:L195H	L	+	2	0	OR4D11	59028208	0.000000	0.05858	0.275000	0.24674	0.055000	0.15305	0.517000	0.22832	2.065000	0.61736	0.455000	0.32223	CTT		PASS	0.488	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		79	212	79	212	---	---	---	---
SPTBN2	6712	broad.mit.edu	37	11	66468296	66468296	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr11:66468296C>T	ENST00000533211.1	-	17	3605	c.3274G>A	c.(3274-3276)Gaa>Aaa	p.E1092K	SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1092K|SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1092K			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1092					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.E1092K(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCGGCCCTTCTTCAGAGGCC	0.687																																						uc001ojd.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(3274-3276)GAA>AAA		spectrin, beta, non-erythrocytic 2							16.0	18.0	17.0					11																	66468296		2189	4278	6467	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66468296C>T	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.3274G>A	11.37:g.66468296C>T	ENSP00000432568:p.Glu1092Lys						p.E1092K	NM_006946	NP_008877	O15020	SPTN2_HUMAN			16	3346	-			1092			Spectrin 8.		O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.3274G>A	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	32	5.172011	0.94807	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.37411	1.2;1.2;1.2	4.7	4.7	0.59300	.	0.053617	0.64402	D	0.000001	T	0.47192	0.1432	L	0.46157	1.445	0.52501	D	0.999955	P	0.51933	0.949	P	0.54431	0.752	T	0.49184	-0.8966	10	0.72032	D	0.01	.	16.5481	0.84454	0.0:1.0:0.0:0.0	.	1092	O15020	SPTN2_HUMAN	K	1092	ENSP00000432568:E1092K;ENSP00000311489:E1092K;ENSP00000433593:E1092K	ENSP00000311489:E1092K	E	-	1	0	SPTBN2	66224872	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.588000	0.82629	2.446000	0.82766	0.491000	0.48974	GAA		PASS	0.687	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		11	28	11	28	---	---	---	---
PCF11	51585	broad.mit.edu	37	11	82880157	82880157	+	Missense_Mutation	SNP	C	C	T	rs201630434		TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr11:82880157C>T	ENST00000298281.4	+	8	3232	c.2780C>T	c.(2779-2781)gCg>gTg	p.A927V		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	927	Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.A927V(1)|p.A1026V(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TCAGGGGCTGCGATTAGGTTT	0.542																																						uc001ozx.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2779-2781)GCG>GTG		pre-mRNA cleavage complex II protein Pcf11		C	VAL/ALA	0,3852		0,0,1926	56.0	56.0	56.0		2780	4.1	0.9	11		56	3,8247		0,3,4122	yes	missense	PCF11	NM_015885.3	64	0,3,6048	TT,TC,CC		0.0364,0.0,0.0248	possibly-damaging	927/1556	82880157	3,12099	1926	4125	6051	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82880157C>T	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.2780C>T	11.37:g.82880157C>T	ENSP00000298281:p.Ala927Val					PCF11_uc010rsu.1_Missense_Mutation_p.A1058V	p.A927V	NM_015885	NP_056969	O94913	PCF11_HUMAN			8	3125	+			927			Gly-rich.		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.2780C>T	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412760	0.25465	0.0	3.64E-4	ENSG00000165494	ENST00000298281	T	0.24538	1.85	6.07	4.13	0.48395	.	0.337088	0.25272	N	0.031873	T	0.12347	0.0300	N	0.08118	0	0.19775	N	0.999958	B	0.18610	0.029	B	0.15484	0.013	T	0.22730	-1.0208	9	.	.	.	-3.8184	11.004	0.47622	0.1166:0.5832:0.3003:0.0	.	927	O94913	PCF11_HUMAN	V	927	ENSP00000298281:A927V	.	A	+	2	0	PCF11	82557805	0.455000	0.25736	0.947000	0.38551	0.936000	0.57629	0.476000	0.22180	1.537000	0.49254	0.655000	0.94253	GCG		PASS	0.542	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		24	43	24	43	---	---	---	---
GRIA4	2893	broad.mit.edu	37	11	105789538	105789538	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr11:105789538A>G	ENST00000530497.1	+	10	1370	c.1370A>G	c.(1369-1371)cAt>cGt	p.H457R	GRIA4_ENST00000282499.5_Missense_Mutation_p.H457R|GRIA4_ENST00000525187.1_Missense_Mutation_p.H457R|GRIA4_ENST00000393127.2_Missense_Mutation_p.H457R			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	457					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.H457R(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		ATTGCAAAACATATTGGTATC	0.358																																						uc001pix.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(1369-1371)CAT>CGT		glutamate receptor, ionotrophic, AMPA 4 isoform	L-Glutamic Acid(DB00142)						95.0	90.0	92.0					11																	105789538		2202	4299	6501	SO:0001583	missense	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105789538A>G	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1370A>G	11.37:g.105789538A>G	ENSP00000435775:p.His457Arg					GRIA4_uc001piw.2_Missense_Mutation_p.H457R	p.H457R	NM_000829	NP_000820	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	11	1816	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	457			Extracellular (Potential).		Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.1370A>G	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	A	16.16	3.045815	0.55110	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	5.68	5.68	0.88126	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.64402	D	0.000001	T	0.46171	0.1379	L	0.52206	1.635	0.80722	D	1	P;P	0.45283	0.475;0.855	B;P	0.49953	0.158;0.627	T	0.41378	-0.9512	10	0.59425	D	0.04	.	16.2322	0.82352	1.0:0.0:0.0:0.0	.	457;457	P48058;G3V164	GRIA4_HUMAN;.	R	457	ENSP00000282499:H457R;ENSP00000376835:H457R;ENSP00000435775:H457R;ENSP00000432180:H457R	ENSP00000282499:H457R	H	+	2	0	GRIA4	105294748	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.287000	0.95975	2.288000	0.76882	0.528000	0.53228	CAT		PASS	0.358	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			26	63	26	63	---	---	---	---
EXPH5	23086	broad.mit.edu	37	11	108398896	108398896	+	Silent	SNP	T	T	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr11:108398896T>G	ENST00000265843.4	-	4	569	c.459A>C	c.(457-459)gcA>gcC	p.A153A	EXPH5_ENST00000525344.1_Silent_p.A146A|EXPH5_ENST00000428840.1_Silent_p.A77A|EXPH5_ENST00000443411.1_Intron|EXPH5_ENST00000524840.1_5'UTR	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	153					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.A153A(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TAGGAGGTCCTGCATGGCCAT	0.418																																						uc001pkk.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)	5						c.(457-459)GCA>GCC		exophilin 5 isoform a							89.0	87.0	88.0					11																	108398896		2201	4298	6499	SO:0001819	synonymous_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108398896T>G		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.459A>C	11.37:g.108398896T>G						EXPH5_uc010rvy.1_Intron|EXPH5_uc010rvz.1_5'UTR|EXPH5_uc010rwa.1_Silent_p.A77A	p.A153A	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	4	570	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	153					Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	c.459A>C	CCDS8341.1																																																																																				PASS	0.418	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		46	82	46	82	---	---	---	---
OR10S1	219873	broad.mit.edu	37	11	123847651	123847651	+	Silent	SNP	G	G	T	rs201429100	byFrequency	TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr11:123847651G>T	ENST00000531945.1	-	1	837	c.748C>A	c.(748-750)Cgg>Agg	p.R250R		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R250R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GAGAAGGCCCGCTGCCGGCCC	0.617																																						uc001pzm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(748-750)CGG>AGG		olfactory receptor, family 10, subfamily S,							46.0	48.0	47.0					11																	123847651		2202	4299	6501	SO:0001819	synonymous_variant	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123847651G>T	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.748C>A	11.37:g.123847651G>T							p.R250R	NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	748	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	250			Cytoplasmic (Potential).		B9EH43|Q6IEV3|Q96R78	Silent	SNP	ENST00000531945.1	37	c.748C>A	CCDS31701.1																																																																																				PASS	0.617	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		45	69	45	69	---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900704	123900704	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr11:123900704C>G	ENST00000431524.1	+	1	408	c.375C>G	c.(373-375)atC>atG	p.I125M		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I125M(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ACCTGGCCATCAGTTACCCGC	0.567																																						uc001pzp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(373-375)ATC>ATG		olfactory receptor, family 10, subfamily G,							153.0	143.0	146.0					11																	123900704		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900704C>G	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.375C>G	11.37:g.123900704C>G	ENSP00000389072:p.Ile125Met						p.I125M	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	375	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	125			Cytoplasmic (Potential).		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.375C>G	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.325697	0.41197	.	.	ENSG00000234560	ENST00000431524	T	0.59083	0.29	3.04	2.12	0.27331	GPCR, rhodopsin-like superfamily (1);	0.285942	0.24742	N	0.035967	T	0.80701	0.4673	H	0.98701	4.305	0.32057	N	0.596206	D	0.59357	0.985	D	0.63033	0.91	T	0.80696	-0.1267	10	0.87932	D	0	.	5.4337	0.16469	0.1974:0.6854:0.0:0.1172	.	125	Q8NGN5	O10G8_HUMAN	M	125	ENSP00000389072:I125M	ENSP00000389072:I125M	I	+	3	3	OR10G8	123405914	0.967000	0.33354	1.000000	0.80357	0.850000	0.48378	0.095000	0.15127	0.600000	0.29862	-0.142000	0.14014	ATC		PASS	0.567	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		67	131	67	131	---	---	---	---
C1R	715	broad.mit.edu	37	12	7241522	7241522	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr12:7241522C>T	ENST00000542285.1	-	6	975	c.826G>A	c.(826-828)Gac>Aac	p.D276N	C1R_ENST00000602298.1_5'Flank			P00736	C1R_HUMAN	complement component 1, r subcomponent	277	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.D291N(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTGCTGGTGTCGAGGTCGGGG	0.562																																						uc010sfy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(829-831)GAC>AAC		complement component 1, r subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						18.0	19.0	19.0					12																	7241522		1911	4115	6026	SO:0001583	missense	715				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7241522C>T	M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"""Complement system"""	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.826G>A	12.37:g.7241522C>T	ENSP00000438615:p.Asp276Asn					C1R_uc010sfz.1_Missense_Mutation_p.D291N|C1R_uc010sga.1_Missense_Mutation_p.D243N	p.D277N	NM_001733	NP_001724	P00736	C1R_HUMAN			6	888	-			277			CUB 2.		A6NJQ8|Q68D77|Q8J012	Missense_Mutation	SNP	ENST00000542285.1	37	c.829G>A		.	.	.	.	.	.	.	.	.	.	C	14.01	2.408274	0.42715	.	.	ENSG00000159403	ENST00000542220;ENST00000536053;ENST00000535233;ENST00000290575;ENST00000542285	T	0.19532	2.14	5.67	4.77	0.60923	CUB (5);	0.229374	0.39083	N	0.001475	T	0.16171	0.0389	.	.	.	0.42902	D	0.994231	B;B;B	0.31227	0.084;0.314;0.103	B;B;B	0.22601	0.016;0.04;0.022	T	0.04078	-1.0979	9	0.37606	T	0.19	.	15.0199	0.71621	0.0:0.9304:0.0:0.0696	.	243;291;277	F5H2D0;B4DPQ0;P00736	.;.;C1R_HUMAN	N	277;291;243;291;276	ENSP00000438615:D276N	ENSP00000290575:D291N	D	-	1	0	C1R	7132663	0.996000	0.38824	0.948000	0.38648	0.984000	0.73092	2.832000	0.48152	2.686000	0.91538	0.561000	0.74099	GAC		PASS	0.562	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001733		15	22	15	22	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26709222	26709222	+	Silent	SNP	T	T	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr12:26709222T>C	ENST00000381340.3	-	36	5324	c.4908A>G	c.(4906-4908)gaA>gaG	p.E1636E		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1636					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.E1636E(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GGAACAGCAGTTCTGGACTGT	0.473																																						uc001rhg.2																			1	Substitution - coding silent(1)		lung(1)	kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(4906-4908)GAA>GAG		inositol 1,4,5-triphosphate receptor, type 2							161.0	158.0	159.0					12																	26709222		2017	4173	6190	SO:0001819	synonymous_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26709222T>C	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.4908A>G	12.37:g.26709222T>C							p.E1636E	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			36	5325	-	Colorectal(261;0.0847)		1636			Cytoplasmic (Potential).		O94773	Silent	SNP	ENST00000381340.3	37	c.4908A>G	CCDS41764.1																																																																																				PASS	0.473	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		90	159	90	159	---	---	---	---
SYT10	341359	broad.mit.edu	37	12	33579079	33579079	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr12:33579079G>T	ENST00000228567.3	-	2	799	c.503C>A	c.(502-504)tCa>tAa	p.S168*	SYT10_ENST00000567656.1_5'UTR|SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	168					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.S168*(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTACCGGGTTGATGACGTAGG	0.403																																						uc001rll.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(502-504)TCA>TAA		synaptotagmin X							159.0	167.0	164.0					12																	33579079		2203	4300	6503	SO:0001587	stop_gained	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33579079G>T	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.503C>A	12.37:g.33579079G>T	ENSP00000228567:p.Ser168*					SYT10_uc009zju.1_5'UTR	p.S168*	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN			2	800	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		168			Cytoplasmic (Potential).		Q495U2	Nonsense_Mutation	SNP	ENST00000228567.3	37	c.503C>A	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	G	37	6.482419	0.97603	.	.	ENSG00000110975	ENST00000228567	.	.	.	3.78	3.78	0.43462	.	0.000000	0.34245	U	0.004123	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8987	0.79356	0.0:0.0:1.0:0.0	.	.	.	.	X	168	.	ENSP00000228567:S168X	S	-	2	0	SYT10	33470346	1.000000	0.71417	1.000000	0.80357	0.067000	0.16453	8.590000	0.90821	2.390000	0.81377	0.655000	0.94253	TCA		PASS	0.403	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		149	333	149	333	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43925955	43925955	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr12:43925955G>C	ENST00000389420.3	-	3	496	c.497C>G	c.(496-498)cCt>cGt	p.P166R	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P166R	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	166					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P166R(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTTCATTATAGGTTCTAAGAA	0.348																																						uc010skx.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(496-498)CCT>CGT		a disintegrin-like and metalloprotease with							143.0	144.0	144.0					12																	43925955		2202	4300	6502	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43925955G>C	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.497C>G	12.37:g.43925955G>C	ENSP00000374071:p.Pro166Arg						p.P166R	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	3	497	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	166					A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.497C>G	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320734	0.60634	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.18810	2.19;2.19	4.84	4.84	0.62591	Peptidase M12B, propeptide (1);	0.000000	0.44285	D	0.000478	T	0.56470	0.1987	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67428	-0.5673	10	0.87932	D	0	.	17.58	0.87965	0.0:0.0:1.0:0.0	.	166	P59510	ATS20_HUMAN	R	166	ENSP00000374071:P166R;ENSP00000448341:P166R	ENSP00000374068:P166R	P	-	2	0	ADAMTS20	42212222	1.000000	0.71417	0.990000	0.47175	0.613000	0.37349	6.817000	0.75252	2.608000	0.88229	0.650000	0.86243	CCT		PASS	0.348	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		21	151	21	151	---	---	---	---
TROAP	10024	broad.mit.edu	37	12	49719645	49719645	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr12:49719645G>T	ENST00000257909.3	+	5	687	c.611G>T	c.(610-612)tGc>tTc	p.C204F	TROAP_ENST00000551245.1_Missense_Mutation_p.C204F|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000547923.1_5'Flank	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	204					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)		p.C204F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CGGACATTGTGCCCCCAGAGG	0.632																																						uc001rtx.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(610-612)TGC>TTC		tastin isoform 1							31.0	35.0	33.0					12																	49719645		2203	4300	6503	SO:0001583	missense	10024				cell adhesion	cytoplasm		g.chr12:49719645G>T	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.611G>T	12.37:g.49719645G>T	ENSP00000257909:p.Cys204Phe					TROAP_uc009zlh.2_Missense_Mutation_p.C204F|TROAP_uc001rty.2_5'Flank	p.C204F	NM_005480	NP_005471	Q12815	TROAP_HUMAN			5	778	+			204					F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.611G>T	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193822	0.38707	.	.	ENSG00000135451	ENST00000551245;ENST00000550346;ENST00000257909;ENST00000547807	.	.	.	5.04	-0.708	0.11241	.	0.424600	0.22687	N	0.056871	T	0.26048	0.0635	L	0.42245	1.32	0.09310	N	0.999999	B;B	0.12013	0.005;0.002	B;B	0.10450	0.005;0.003	T	0.17289	-1.0374	9	0.56958	D	0.05	0.1348	0.6009	0.00744	0.3351:0.1796:0.3155:0.1698	.	204;204	F8W130;Q12815	.;TROAP_HUMAN	F	204;87;204;204	.	ENSP00000257909:C204F	C	+	2	0	TROAP	48005912	0.000000	0.05858	0.026000	0.17262	0.852000	0.48524	-0.006000	0.12833	-0.011000	0.14247	-0.182000	0.12963	TGC		PASS	0.632	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		24	60	24	60	---	---	---	---
FAIM2	23017	broad.mit.edu	37	12	50264382	50264382	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr12:50264382G>T	ENST00000320634.3	-	12	950	c.856C>A	c.(856-858)Cct>Act	p.P286T	FAIM2_ENST00000550890.1_Missense_Mutation_p.P240T	NM_012306.3	NP_036438.2	Q9BWQ8	LFG2_HUMAN	Fas apoptotic inhibitory molecule 2	286					apoptotic process (GO:0006915)|cerebellar granular layer development (GO:0021681)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum development (GO:0021549)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of neuron apoptotic process (GO:0043523)|response to ischemia (GO:0002931)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|postsynaptic membrane (GO:0045211)		p.P286T(1)		endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						TACTCCTCAGGGCTCAGCGAG	0.517																																						uc001rvj.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(856-858)CCT>ACT		Fas apoptotic inhibitory molecule 2							88.0	77.0	81.0					12																	50264382		2203	4300	6503	SO:0001583	missense	23017				anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane		g.chr12:50264382G>T	AB023167	CCDS8791.1	12q13	2010-03-18				ENSG00000135472			17067	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 2"""	604306				10231032, 10535980	Standard	NM_012306		Approved	KIAA0950, LFG, NMP35, LIFEGUARD, TMBIM2, LFG2	uc001rvj.2	Q9BWQ8	OTTHUMG00000169808	ENST00000320634.3:c.856C>A	12.37:g.50264382G>T	ENSP00000321951:p.Pro286Thr					FAIM2_uc001rvi.1_Missense_Mutation_p.P240T|FAIM2_uc001rvk.1_RNA	p.P286T	NM_012306	NP_036438	Q9BWQ8	FAIM2_HUMAN			12	1001	-			286					A8K1W6|B3KR08|Q9UJY9|Q9Y2F7	Missense_Mutation	SNP	ENST00000320634.3	37	c.856C>A	CCDS8791.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.541879|4.541879	0.85917|0.85917	.|.	.|.	ENSG00000135472|ENSG00000135472	ENST00000552863|ENST00000320634;ENST00000550890;ENST00000550635;ENST00000552669	.|T;T;T	.|0.40756	.|1.02;1.02;1.02	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.71281|0.71281	0.3321|0.3321	M|M	0.90870|0.90870	3.155|3.155	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.78365|0.78365	-0.2232|-0.2232	6|10	.|0.59425	.|D	.|0.04	-16.2943|-16.2943	15.5214|15.5214	0.75869|0.75869	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|286	.|Q9BWQ8	.|FAIM2_HUMAN	H|T	136|286;240;286;244	.|ENSP00000321951:P286T;ENSP00000450132:P240T;ENSP00000446771:P244T	.|ENSP00000321951:P286T	P|P	-|-	2|1	0|0	FAIM2|FAIM2	48550649|48550649	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.823000|9.823000	0.99369|0.99369	2.266000|2.266000	0.75297|0.75297	0.563000|0.563000	0.77884|0.77884	CCC|CCT		PASS	0.517	FAIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405984.1	NM_012306		54	84	54	84	---	---	---	---
KRT6A	3853	broad.mit.edu	37	12	52884946	52884946	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr12:52884946C>T	ENST00000330722.6	-	3	834	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	256	Coil 1B.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.E256K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGTTGATTTCATCCTCATAT	0.453																																						uc001sam.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(766-768)GAA>AAA		keratin 6A							69.0	64.0	66.0					12																	52884946		2203	4292	6495	SO:0001583	missense	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52884946C>T	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.766G>A	12.37:g.52884946C>T	ENSP00000369317:p.Glu256Lys						p.E256K	NM_005554	NP_005545	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	3	975	-			256			Coil 1B.|Rod.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	c.766G>A	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	c	27.0	4.792873	0.90453	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.88586	-2.4	4.95	4.95	0.65309	Filament (1);	0.000000	0.64402	D	0.000020	D	0.96525	0.8866	H	0.97564	4.03	0.50813	D	0.999899	D	0.89917	1.0	D	0.97110	1.0	D	0.97866	1.0283	10	0.87932	D	0	.	15.6707	0.77270	0.0:0.8628:0.1371:0.0	.	256	P02538	K2C6A_HUMAN	K	256;212	ENSP00000369317:E256K	ENSP00000369317:E256K	E	-	1	0	KRT6A	51171213	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	7.655000	0.83696	2.447000	0.82792	0.555000	0.69702	GAA		PASS	0.453	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		88	170	88	170	---	---	---	---
HOXC12	3228	broad.mit.edu	37	12	54350155	54350155	+	Silent	SNP	C	C	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr12:54350155C>T	ENST00000243103.3	+	2	750	c.654C>T	c.(652-654)cgC>cgT	p.R218R	AC012531.23_ENST00000603432.1_lincRNA	NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	218					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R218R(1)		large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						GGAAGAAGCGCAAGCCCTATT	0.592																																						uc010soq.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(652-654)CGC>CGT		homeobox C12							88.0	92.0	91.0					12																	54350155		2203	4300	6503	SO:0001819	synonymous_variant	3228				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54350155C>T	AF328962	CCDS8866.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123407	ENSG00000123407		"""Homeoboxes / ANTP class : HOXL subclass"""	5124	protein-coding gene	gene with protein product		142975	"""homeo box C12"""	HOX3, HOX3F, HOC3F		1973146, 1358459	Standard	NM_173860		Approved		uc010soq.2	P31275	OTTHUMG00000160010	ENST00000243103.3:c.654C>T	12.37:g.54350155C>T							p.R218R	NM_173860	NP_776272	P31275	HXC12_HUMAN			2	654	+			218			Homeobox.		Q9BXJ6	Silent	SNP	ENST00000243103.3	37	c.654C>T	CCDS8866.1																																																																																				PASS	0.592	HOXC12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358868.2	NM_173860		88	149	88	149	---	---	---	---
HOXC11	3227	broad.mit.edu	37	12	54367289	54367289	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr12:54367289C>G	ENST00000546378.1	+	1	380	c.264C>G	c.(262-264)agC>agG	p.S88R	HOXC11_ENST00000243082.4_Missense_Mutation_p.S88R|HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA			O43248	HXC11_HUMAN	homeobox C11	88					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.S88R(1)		large_intestine(1)|ovary(1)	2						ATCGGAACAGCTACTCCTCCT	0.627			T	NUP98	AML																																	uc001sem.2				Dom	yes		12	12q13.3	3227	T	homeo box C11			L	NUP98		AML		1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(262-264)AGC>AGG		homeobox C11							94.0	100.0	98.0					12																	54367289		2203	4300	6503	SO:0001583	missense	3227				endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54367289C>G		CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"""Homeoboxes / ANTP class : HOXL subclass"""	5123	protein-coding gene	gene with protein product		605559	"""homeo box C11"""	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.264C>G	12.37:g.54367289C>G	ENSP00000446680:p.Ser88Arg						p.S88R	NM_014212	NP_055027	O43248	HXC11_HUMAN			1	380	+			88					A8K7D1|Q96DH2	Missense_Mutation	SNP	ENST00000546378.1	37	c.264C>G	CCDS8867.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114090	0.37339	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	T;T	0.46063	0.88;0.88	4.31	3.42	0.39159	Domain of unknown function DUF3528, homeobox protein, eukaryotic (1);	0.172684	0.64402	D	0.000008	T	0.44117	0.1278	L	0.43152	1.355	0.36099	D	0.84401	P	0.37015	0.578	P	0.48334	0.574	T	0.55988	-0.8053	10	0.72032	D	0.01	.	8.7001	0.34320	0.0:0.8123:0.0:0.1877	.	88	O43248	HXC11_HUMAN	R	88	ENSP00000446680:S88R;ENSP00000243082:S88R	ENSP00000243082:S88R	S	+	3	2	HOXC11	52653556	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.761000	0.38440	1.161000	0.42604	-0.266000	0.10368	AGC		PASS	0.627	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2			82	145	82	145	---	---	---	---
DNAJC14	85406	broad.mit.edu	37	12	56221155	56221155	+	Nonsense_Mutation	SNP	G	G	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr12:56221155G>A	ENST00000357606.3	-	3	1577	c.1288C>T	c.(1288-1290)Cga>Tga	p.R430*	DNAJC14_ENST00000317287.5_Nonsense_Mutation_p.R430*|TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317269.3_Nonsense_Mutation_p.R430*|RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.S59L			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	430					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.R430*(1)		breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						GTCAAGAGTCGAGCCACTTCC	0.542																																						uc001shx.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(1288-1290)CGA>TGA		dopamine receptor interacting protein							149.0	137.0	141.0					12																	56221155		2203	4300	6503	SO:0001587	stop_gained	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56221155G>A	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.1288C>T	12.37:g.56221155G>A	ENSP00000350223:p.Arg430*					DNAJC14_uc001shu.1_Nonsense_Mutation_p.R430*|DNAJC14_uc009zob.1_Nonsense_Mutation_p.R430*|DNAJC14_uc001shy.1_Nonsense_Mutation_p.R430*	p.R430*	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN			2	1492	-			430					A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Nonsense_Mutation	SNP	ENST00000357606.3	37	c.1288C>T	CCDS8894.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.694255|7.694255	0.98438|0.98438	.|.	.|.	ENSG00000135392|ENSG00000257390	ENST00000357606;ENST00000317269;ENST00000537962;ENST00000317287|ENST00000546837	.|.	.|.	.|.	4.67|4.67	3.77|3.77	0.43336|0.43336	.|.	0.000000|.	0.64402|.	D|.	0.000013|.	.|T	.|0.61110	.|0.2321	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69228	.|-0.5200	.|3	0.02654|.	T|.	1|.	-0.2554|-0.2554	12.1724|12.1724	0.54165|0.54165	0.0:0.0:0.8279:0.1721|0.0:0.0:0.8279:0.1721	.|.	.|.	.|.	.|.	X|L	430;430;140;430|59	.|.	ENSP00000316240:R430X|.	R|S	-|-	1|2	2|0	DNAJC14|RP11-762I7.5	54507422|54507422	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.768000|0.768000	0.43524|0.43524	2.325000|2.325000	0.43840|0.43840	1.308000|1.308000	0.44962|0.44962	0.655000|0.655000	0.94253|0.94253	CGA|TCG		PASS	0.542	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		82	153	82	153	---	---	---	---
GAS2L3	283431	broad.mit.edu	37	12	101012343	101012343	+	Missense_Mutation	SNP	G	G	A	rs147048300	byFrequency	TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr12:101012343G>A	ENST00000539410.1	+	7	1012	c.626G>A	c.(625-627)cGg>cAg	p.R209Q	GAS2L3_ENST00000547754.1_Missense_Mutation_p.R209Q|GAS2L3_ENST00000537247.1_Missense_Mutation_p.R105Q|GAS2L3_ENST00000266754.5_Missense_Mutation_p.R209Q			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	209	GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)	p.R209Q(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TCATGCTGTCGGCATGAAGAG	0.398													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19980	0.0		0.0	False		,,,				2504	0.001					uc001thu.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(625-627)CGG>CAG		growth arrest-specific 2 like 3		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	113.0	111.0	112.0		626	4.1	1.0	12	dbSNP_134	112	0,8600		0,0,4300	no	missense	GAS2L3	NM_174942.1	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	209/695	101012343	1,13005	2203	4300	6503	SO:0001583	missense	283431				cell cycle arrest			g.chr12:101012343G>A	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.626G>A	12.37:g.101012343G>A	ENSP00000439672:p.Arg209Gln					GAS2L3_uc009zty.2_Missense_Mutation_p.R209Q|GAS2L3_uc001thv.2_Missense_Mutation_p.R105Q	p.R209Q	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN			8	852	+			209			GAR.		B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	c.626G>A	CCDS9079.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	5.143	0.212001	0.09757	2.27E-4	0.0	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.22945	1.98;1.98;1.93;1.98	5.27	4.12	0.48240	Growth-arrest-specific protein 2 domain (2);Calponin homology domain (1);	0.980175	0.08394	N	0.952404	T	0.09512	0.0234	N	0.01352	-0.895	0.23464	N	0.997628	B	0.02656	0.0	B	0.01281	0.0	T	0.33163	-0.9879	10	0.19590	T	0.45	-3.5879	7.8065	0.29206	0.7886:0.1386:0.0728:0.0	.	209	Q86XJ1	GA2L3_HUMAN	Q	209;209;105;209	ENSP00000266754:R209Q;ENSP00000448955:R209Q;ENSP00000442406:R105Q;ENSP00000439672:R209Q	ENSP00000266754:R209Q	R	+	2	0	GAS2L3	99536474	0.986000	0.35501	0.998000	0.56505	0.901000	0.52897	2.021000	0.41020	0.951000	0.37770	-0.475000	0.04921	CGG		PASS	0.398	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		8	232	8	232	---	---	---	---
SRRM4	84530	broad.mit.edu	37	12	119583288	119583288	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr12:119583288T>G	ENST00000267260.4	+	9	1262	c.874T>G	c.(874-876)Tcc>Gcc	p.S292A		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	292	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)	p.S292A(2)|p.S389A(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AAATGACACGTCCTCGCCACC	0.637																																						uc001txa.1																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(874-876)TCC>GCC		KIAA1853 protein							31.0	36.0	35.0					12																	119583288		2002	4159	6161	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119583288T>G	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.874T>G	12.37:g.119583288T>G	ENSP00000267260:p.Ser292Ala						p.S292A	NM_194286	NP_919262	A7MD48	SRRM4_HUMAN			9	1166	+			292			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.874T>G	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.952747	0.73787	.	.	ENSG00000139767	ENST00000267260	T	0.30981	1.51	5.48	5.48	0.80851	.	0.054162	0.85682	D	0.000000	T	0.28200	0.0696	L	0.58101	1.795	0.35295	D	0.782477	P	0.37731	0.607	B	0.32465	0.146	T	0.42481	-0.9449	9	.	.	.	-19.725	12.1409	0.53996	0.0:0.0:0.1429:0.8571	.	292	A7MD48	SRRM4_HUMAN	A	292	ENSP00000267260:S292A	.	S	+	1	0	SRRM4	118067671	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	5.853000	0.69496	2.082000	0.62665	0.533000	0.62120	TCC		PASS	0.637	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		6	17	6	17	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132508341	132508341	+	Silent	SNP	A	A	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr12:132508341A>T	ENST00000333577.4	+	25	4927	c.4818A>T	c.(4816-4818)atA>atT	p.I1606I	EP400_ENST00000389561.2_Silent_p.I1570I|EP400_ENST00000389562.2_Silent_p.I1569I|EP400_ENST00000332482.4_Silent_p.I1533I|EP400_ENST00000330386.6_Silent_p.I1489I			Q96L91	EP400_HUMAN	E1A binding protein p400	1606					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.I1569I(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TAGTGAAAATAGCTCAGCTGG	0.493																																						uc001ujn.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(4708-4710)ATA>ATT		E1A binding protein p400							53.0	55.0	54.0					12																	132508341		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132508341A>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4818A>T	12.37:g.132508341A>T						EP400_uc001ujl.2_Silent_p.I1569I|EP400_uc001ujm.2_Silent_p.I1489I	p.I1570I	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	23	4745	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1606					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.4710A>T																																																																																					PASS	0.493	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		53	82	53	82	---	---	---	---
GOLGA3	2802	broad.mit.edu	37	12	133350809	133350809	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr12:133350809A>T	ENST00000450791.2	-	22	4424	c.4241T>A	c.(4240-4242)cTg>cAg	p.L1414Q	GOLGA3_ENST00000204726.3_Missense_Mutation_p.L1414Q			Q08378	GOGA3_HUMAN	golgin A3	1414					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.L1414Q(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CGGTGGTCTCAGCAGCTCCTC	0.622																																						uc001ukz.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(4240-4242)CTG>CAG		Golgi autoantigen, golgin subfamily a, 3							49.0	50.0	50.0					12																	133350809		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133350809A>T	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.4241T>A	12.37:g.133350809A>T	ENSP00000410378:p.Leu1414Gln						p.L1414Q	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	23	4800	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1414			Potential.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.4241T>A	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.007254	0.75046	.	.	ENSG00000090615	ENST00000204726;ENST00000450791	T;T	0.45276	0.9;0.9	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.55893	0.1949	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58912	-0.7552	10	0.72032	D	0.01	.	15.7517	0.77992	1.0:0.0:0.0:0.0	.	1414	Q08378	GOGA3_HUMAN	Q	1414	ENSP00000204726:L1414Q;ENSP00000410378:L1414Q	ENSP00000204726:L1414Q	L	-	2	0	GOLGA3	131860882	1.000000	0.71417	0.905000	0.35620	0.324000	0.28378	8.598000	0.90852	2.131000	0.65755	0.533000	0.62120	CTG		PASS	0.622	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		20	44	20	44	---	---	---	---
HTR2A	3356	broad.mit.edu	37	13	47409668	47409668	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr13:47409668A>T	ENST00000378688.4	-	3	851	c.720T>A	c.(718-720)ttT>ttA	p.F240L	HTR2A_ENST00000542664.1_Missense_Mutation_p.F240L|HTR2A_ENST00000543956.1_Missense_Mutation_p.F156L			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	240					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.F240L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AAAATGACACAAAAGAGCCGA	0.438																																						uc001vbq.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(718-720)TTT>TTA		5-hydroxytryptamine receptor 2A isoform 1	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						81.0	78.0	79.0					13																	47409668		2203	4300	6503	SO:0001583	missense	3356				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	g.chr13:47409668A>T	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.720T>A	13.37:g.47409668A>T	ENSP00000367959:p.Phe240Leu					HTR2A_uc001vbr.2_Missense_Mutation_p.F140L|HTR2A_uc010acr.2_Missense_Mutation_p.F240L	p.F240L	NM_000621	NP_000612	P28223	5HT2A_HUMAN		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	3	854	-		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)	240			Helical; Name=5; (By similarity).		B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	37	c.720T>A	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	A	14.20	2.465186	0.43839	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.57595	0.39;0.39;0.39	5.67	-2.28	0.06826	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.23330	0.0564	N	0.05510	-0.035	0.53005	D	0.999967	B;B	0.27264	0.144;0.173	B;B	0.27076	0.076;0.071	T	0.33854	-0.9852	10	0.02654	T	1	.	11.4769	0.50304	0.6902:0.0:0.3098:0.0	.	156;240	F5GWE8;P28223	.;5HT2A_HUMAN	L	240;156;240	ENSP00000367959:F240L;ENSP00000441861:F156L;ENSP00000437737:F240L	ENSP00000367959:F240L	F	-	3	2	HTR2A	46307669	0.993000	0.37304	0.993000	0.49108	0.960000	0.62799	0.463000	0.21972	-0.292000	0.08999	-0.326000	0.08463	TTT		PASS	0.438	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		34	33	34	33	---	---	---	---
ATP7B	540	broad.mit.edu	37	13	52520501	52520501	+	Silent	SNP	C	C	T	rs200656411		TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr13:52520501C>T	ENST00000242839.4	-	13	3135	c.2979G>A	c.(2977-2979)acG>acA	p.T993T	ATP7B_ENST00000400366.3_Silent_p.T882T|ATP7B_ENST00000344297.5_Silent_p.T786T|ATP7B_ENST00000448424.2_Silent_p.T915T|ATP7B_ENST00000418097.2_Intron|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000417240.2_Silent_p.T265T|ATP7B_ENST00000400370.3_Silent_p.T563T	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	993					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)	p.T993T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CCATGACAGCCGTGGGCGTGG	0.642									Wilson disease				C|||	1	0.000199681	0.0	0.0014	5008	,	,		17082	0.0		0.0	False		,,,				2504	0.0					uc001vfw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2977-2979)ACG>ACA		ATPase, Cu++ transporting, beta polypeptide							42.0	46.0	44.0					13																	52520501		1989	4160	6149	SO:0001819	synonymous_variant	540	Wilson_disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52520501C>T	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.2979G>A	13.37:g.52520501C>T						ATP7B_uc010adv.2_Silent_p.T563T|ATP7B_uc001vfx.2_Silent_p.T786T|ATP7B_uc001vfy.2_Silent_p.T882T|ATP7B_uc010tgt.1_Intron|ATP7B_uc010tgu.1_Silent_p.T945T|ATP7B_uc010tgv.1_Silent_p.T915T|ATP7B_uc001vfv.2_Silent_p.T265T|ATP7B_uc010tgs.1_Silent_p.T265T	p.T993T	NM_000053	NP_000044	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	13	3136	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	993			Helical; (Potential).		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Silent	SNP	ENST00000242839.4	37	c.2979G>A	CCDS41892.1																																																																																				PASS	0.642	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		16	5	16	5	---	---	---	---
OR11H12	440153	broad.mit.edu	37	14	19377759	19377759	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr14:19377759G>T	ENST00000550708.1	+	1	238	c.166G>T	c.(166-168)Ggg>Tgg	p.G56W		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G56W(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GACTATAACAGGGAATGGAGC	0.398																																						uc010tkp.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(166-168)GGG>TGG		olfactory receptor, family 11, subfamily H,							66.0	73.0	71.0					14																	19377759		2099	4205	6304	SO:0001583	missense	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19377759G>T		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.166G>T	14.37:g.19377759G>T	ENSP00000449002:p.Gly56Trp						p.G56W	NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	166	+	all_cancers(95;0.00108)		56			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000550708.1	37	c.166G>T	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	g	11.41	1.630933	0.28978	.	.	ENSG00000257115	ENST00000550708	T	0.04502	3.61	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000711	T	0.20414	0.0491	M	0.92555	3.32	0.27306	N	0.957445	D	0.64830	0.994	D	0.65233	0.933	T	0.22661	-1.0210	9	0.54805	T	0.06	.	7.1009	0.25336	1.0E-4:0.0:0.9999:0.0	.	56	B2RN74	O11HC_HUMAN	W	56	ENSP00000449002:G56W	ENSP00000449002:G56W	G	+	1	0	CR383656.1	18447759	0.000000	0.05858	0.822000	0.32727	0.023000	0.10783	0.447000	0.21710	0.619000	0.30197	0.064000	0.15345	GGG		PASS	0.398	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		367	110	367	110	---	---	---	---
SALL2	6297	broad.mit.edu	37	14	21991560	21991560	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr14:21991560C>G	ENST00000327430.3	-	2	2596	c.2302G>C	c.(2302-2304)Gag>Cag	p.E768Q	SALL2_ENST00000450879.2_Missense_Mutation_p.E631Q|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron|AE000658.22_ENST00000535893.1_RNA	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	768	Poly-Glu.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E768Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		tcatcctcctcttcctcctcc	0.557																																						uc001wbe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(2302-2304)GAG>CAG		sal-like 2							69.0	66.0	67.0					14																	21991560		2203	4300	6503	SO:0001583	missense	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21991560C>G	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.2302G>C	14.37:g.21991560C>G	ENSP00000333537:p.Glu768Gln					SALL2_uc010tly.1_Missense_Mutation_p.E766Q|SALL2_uc010tlz.1_Missense_Mutation_p.E631Q|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.E633Q|SALL2_uc001wbg.1_Intron	p.E768Q	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	2584	-	all_cancers(95;0.000662)		768			Poly-Glu.		B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	c.2302G>C	CCDS32045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.731|3.731	-0.055589|-0.055589	0.07362|0.07362	.|.	.|.	ENSG00000165821|ENSG00000165821	ENST00000327430;ENST00000450879|ENST00000546363	T;T|.	0.04406|.	3.73;3.63|.	2.09|2.09	2.09|2.09	0.27110|0.27110	.|.	0.000000|.	0.32548|.	N|.	0.005941|.	T|T	0.24851|0.24851	0.0603|0.0603	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	P;P;P;B|.	0.41673|.	0.759;0.759;0.563;0.048|.	B;B;B;B|.	0.34931|.	0.188;0.188;0.192;0.039|.	T|T	0.20974|0.20974	-1.0259|-1.0259	10|5	0.28530|.	T|.	0.3|.	-0.956|-0.956	7.2932|7.2932	0.26378|0.26378	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	631;631;529;768|.	B4DK65;E7EW59;B4DFD9;Q9Y467|.	.;.;.;SALL2_HUMAN|.	Q|N	768;631|626	ENSP00000333537:E768Q;ENSP00000396773:E631Q|.	ENSP00000333537:E768Q|.	E|K	-|-	1|3	0|2	SALL2|SALL2	21061400|21061400	0.005000|0.005000	0.15991|0.15991	0.773000|0.773000	0.31616|0.31616	0.474000|0.474000	0.32979|0.32979	-0.436000|-0.436000	0.06922|0.06922	0.952000|0.952000	0.37798|0.37798	0.467000|0.467000	0.42956|0.42956	GAG|AAG		PASS	0.557	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		40	107	40	107	---	---	---	---
AJUBA	84962	broad.mit.edu	37	14	23444075	23444075	+	Silent	SNP	G	G	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr14:23444075G>A	ENST00000262713.2	-	6	1770	c.1395C>T	c.(1393-1395)gcC>gcT	p.A465A	AJUBA_ENST00000361265.4_Silent_p.A465A|AJUBA_ENST00000397388.3_Silent_p.A48A|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	465	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.A465A(1)									GTTGGCCACAGGCTGCACACT	0.577																																						uc001whz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1393-1395)GCC>GCT		ajuba isoform 1							105.0	94.0	98.0					14																	23444075		2203	4300	6503	SO:0001819	synonymous_variant	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23444075G>A	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1395C>T	14.37:g.23444075G>A						JUB_uc001why.2_Silent_p.A48A	p.A465A	NM_032876	NP_116265	Q96IF1	JUB_HUMAN		GBM - Glioblastoma multiforme(265;0.0122)	6	1771	-	all_cancers(95;4.6e-05)		465			LIM zinc-binding 3.		A8MX18|D3DS37	Silent	SNP	ENST00000262713.2	37	c.1395C>T	CCDS9581.1																																																																																				PASS	0.577	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			177	47	177	47	---	---	---	---
NID2	22795	broad.mit.edu	37	14	52534597	52534597	+	Silent	SNP	G	G	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr14:52534597G>A	ENST00000216286.5	-	2	512	c.513C>T	c.(511-513)cgC>cgT	p.R171R	NID2_ENST00000541773.1_Silent_p.R118R	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	171	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)	p.R171R(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GCAGCGCCCCGCGCTTGACCT	0.632																																						uc001wzo.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(511-513)CGC>CGT		nidogen 2 precursor							84.0	101.0	95.0					14																	52534597		2149	4235	6384	SO:0001819	synonymous_variant	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52534597G>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.513C>T	14.37:g.52534597G>A						NID2_uc010tqs.1_Silent_p.R171R|NID2_uc010tqt.1_Silent_p.R171R|NID2_uc001wzp.2_Silent_p.R171R	p.R171R	NM_007361	NP_031387	Q14112	NID2_HUMAN			2	747	-	Breast(41;0.0639)|all_epithelial(31;0.123)		171			NIDO.		A8K6I7|B4DU19|O43710	Silent	SNP	ENST00000216286.5	37	c.513C>T	CCDS9706.1																																																																																				PASS	0.632	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			24	432	24	432	---	---	---	---
ADAM21	8747	broad.mit.edu	37	14	70925402	70925402	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr14:70925402A>T	ENST00000603540.1	+	2	1444	c.1186A>T	c.(1186-1188)Aat>Tat	p.N396Y	ADAM21_ENST00000267499.3_Missense_Mutation_p.N396Y|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	396	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N396Y(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATGTCTGCATAATCCTCCAAG	0.438																																						uc001xmd.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(1186-1188)AAT>TAT		ADAM metallopeptidase domain 21 preproprotein							117.0	109.0	112.0					14																	70925402		2203	4300	6503	SO:0001583	missense	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70925402A>T	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1186A>T	14.37:g.70925402A>T	ENSP00000474385:p.Asn396Tyr						p.N396Y	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	1	1186	+			396			Peptidase M12B.|Extracellular (Potential).		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	c.1186A>T	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	A	1.036	-0.680407	0.03353	.	.	ENSG00000139985	ENST00000267499	T	0.14144	2.53	4.2	1.78	0.24846	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.482501	0.16922	U	0.194049	T	0.16981	0.0408	M	0.79693	2.465	0.09310	N	1	B	0.16396	0.017	B	0.24006	0.05	T	0.21861	-1.0233	10	0.40728	T	0.16	.	5.3285	0.15920	0.652:0.1596:0.1884:0.0	.	396	Q9UKJ8	ADA21_HUMAN	Y	396	ENSP00000267499:N396Y	ENSP00000267499:N396Y	N	+	1	0	ADAM21	69995155	0.000000	0.05858	0.001000	0.08648	0.222000	0.24845	0.345000	0.19979	0.247000	0.21414	-0.410000	0.06199	AAT		PASS	0.438	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			185	79	185	79	---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72200451	72200451	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr14:72200451C>T	ENST00000555818.1	+	19	5341	c.4993C>T	c.(4993-4995)Cct>Tct	p.P1665S	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.P1644S|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.P1644S|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.P1119S	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1665					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.P1665S(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TATGCCCGACCCTGGCCTGAT	0.587																																						uc001xms.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(4993-4995)CCT>TCT		signal-induced proliferation-associated 1 like							96.0	82.0	87.0					14																	72200451		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72200451C>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4993C>T	14.37:g.72200451C>T	ENSP00000450832:p.Pro1665Ser					SIPA1L1_uc001xmt.2_Missense_Mutation_p.P1644S|SIPA1L1_uc001xmu.2_Missense_Mutation_p.P1644S|SIPA1L1_uc001xmv.2_Missense_Mutation_p.P1665S|SIPA1L1_uc010ttm.1_Missense_Mutation_p.P1119S|SIPA1L1_uc001xmw.2_Missense_Mutation_p.P430S	p.P1665S	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	19	5341	+			1665					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.4993C>T	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920705	0.92249	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.09	5.09	0.68999	.	0.301034	0.37669	N	0.001990	T	0.69214	0.3086	M	0.72353	2.195	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.972;0.997;0.965;0.999	P;P;D;P;D	0.79108	0.884;0.85;0.987;0.767;0.992	T	0.72200	-0.4362	10	0.66056	D	0.02	-17.6763	18.8773	0.92343	0.0:1.0:0.0:0.0	.	1119;1665;1119;1644;1665	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	S	1644;1665;1644;1119	ENSP00000370630:P1644S;ENSP00000450832:P1665S;ENSP00000351352:P1644S;ENSP00000440682:P1119S	ENSP00000351352:P1665S	P	+	1	0	SIPA1L1	71270204	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.826000	0.62715	2.526000	0.85167	0.561000	0.74099	CCT		PASS	0.587	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		36	52	36	52	---	---	---	---
ABCD4	5826	broad.mit.edu	37	14	74753465	74753465	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr14:74753465C>T	ENST00000356924.4	-	18	1834	c.1691G>A	c.(1690-1692)cGc>cAc	p.R564H	AC005519.4_ENST00000554532.2_RNA|ABCD4_ENST00000298816.7_Missense_Mutation_p.R460H	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	564	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.R564H(1)		cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		CTGGCCGATGCGATAGAGCTC	0.582																																						uc001xpr.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1)	4						c.(1690-1692)CGC>CAC		ATP-binding cassette, sub-family D, member 4							85.0	67.0	73.0					14																	74753465		2203	4300	6503	SO:0001583	missense	5826					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr14:74753465C>T	AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"""ATP binding cassette transporters / subfamily D"""	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.1691G>A	14.37:g.74753465C>T	ENSP00000349396:p.Arg564His					ABCD4_uc001xps.2_Missense_Mutation_p.R405H|ABCD4_uc001xpt.2_Missense_Mutation_p.R405H|ABCD4_uc010tur.1_Missense_Mutation_p.R460H	p.R564H	NM_005050	NP_005041	O14678	ABCD4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00153)	18	1843	-			564			ABC transporter.		A8K5L7|Q6IAQ0|Q96E75	Missense_Mutation	SNP	ENST00000356924.4	37	c.1691G>A	CCDS9828.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.89|15.89	2.966814|2.966814	0.53507|0.53507	.|.	.|.	ENSG00000119688|ENSG00000119688	ENST00000555904|ENST00000356924;ENST00000298816	.|D;D	.|0.99854	.|-2.72;-7.19	5.18|5.18	4.26|4.26	0.50523|0.50523	.|ATPase, AAA+ type, core (1);ABC transporter-like (1);	.|0.186998	.|0.46145	.|N	.|0.000308	D|D	0.99048|0.99048	0.9674|0.9674	L|L	0.36672|0.36672	1.1|1.1	0.48395|0.48395	D|D	0.999644|0.999644	.|B;B;B	.|0.27068	.|0.119;0.167;0.046	.|B;B;B	.|0.18871	.|0.023;0.017;0.017	D|D	0.99954|0.99954	1.1601|1.1601	5|10	.|0.66056	.|D	.|0.02	.|.	10.3678|10.3678	0.44035|0.44035	0.0:0.8378:0.0:0.1622|0.0:0.8378:0.0:0.1622	.|.	.|460;564;564	.|F8W7M4;A8K5L7;O14678	.|.;.;ABCD4_HUMAN	T|H	80|564;460	.|ENSP00000349396:R564H;ENSP00000298816:R460H	.|ENSP00000298816:R460H	A|R	-|-	1|2	0|0	ABCD4|ABCD4	73823218|73823218	0.775000|0.775000	0.28604|0.28604	0.950000|0.950000	0.38849|0.38849	0.941000|0.941000	0.58515|0.58515	1.523000|1.523000	0.35932|0.35932	1.356000|1.356000	0.45884|0.45884	0.650000|0.650000	0.86243|0.86243	GCA|CGC		PASS	0.582	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314382.1	NM_005050		11	102	11	102	---	---	---	---
FLRT2	23768	broad.mit.edu	37	14	86088921	86088921	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr14:86088921A>G	ENST00000330753.4	+	2	1830	c.1063A>G	c.(1063-1065)Atg>Gtg	p.M355V	FLRT2_ENST00000554746.1_Missense_Mutation_p.M355V	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	355	LRRCT.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.M355V(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GGAATTAAATATGAATCTTTT	0.547																																						uc001xvr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(1063-1065)ATG>GTG		fibronectin leucine rich transmembrane protein 2							88.0	99.0	95.0					14																	86088921		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088921A>G	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1063A>G	14.37:g.86088921A>G	ENSP00000332879:p.Met355Val					FLRT2_uc010atd.2_Missense_Mutation_p.M355V	p.M355V	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1830	+			355			Extracellular (Potential).|LRRCT.		A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1063A>G	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	A	4.385	0.071030	0.08436	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.02301	4.35;4.35	6.07	4.9	0.64082	Cysteine-rich flanking region, C-terminal (1);	0.178090	0.64402	D	0.000020	T	0.00815	0.0027	N	0.01122	-1.005	0.30643	N	0.756267	B	0.02656	0.0	B	0.01281	0.0	T	0.33574	-0.9863	10	0.11794	T	0.64	-23.8719	5.1242	0.14876	0.7288:0.0:0.1353:0.136	.	355	O43155	FLRT2_HUMAN	V	355;355;8	ENSP00000332879:M355V;ENSP00000451050:M355V	ENSP00000332879:M355V	M	+	1	0	FLRT2	85158674	0.998000	0.40836	1.000000	0.80357	0.987000	0.75469	0.906000	0.28517	1.067000	0.40740	0.533000	0.62120	ATG		PASS	0.547	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			269	94	269	94	---	---	---	---
WDR20	91833	broad.mit.edu	37	14	102605647	102605647	+	5'Flank	SNP	T	T	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr14:102605647T>C	ENST00000342702.3	+	0	0				WDR20_ENST00000454394.2_5'Flank|HSP90AA1_ENST00000334701.7_Missense_Mutation_p.D32G|HSP90AA1_ENST00000558600.1_5'UTR|WDR20_ENST00000299135.6_5'Flank|WDR20_ENST00000556511.2_5'Flank|WDR20_ENST00000424963.2_5'Flank|WDR20_ENST00000335263.5_5'Flank|WDR20_ENST00000558567.1_5'Flank|WDR20_ENST00000499851.2_5'Flank|WDR20_ENST00000322340.5_5'Flank|WDR20_ENST00000556807.1_5'Flank	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20									p.D32G(1)		breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						ATCCAGACGGTCGCGCGGGTA	0.642																																						uc001ykv.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7						c.(94-96)GAC>GGC		heat shock 90kDa protein 1, alpha isoform 1	Rifabutin(DB00615)						28.0	32.0	31.0					14																	102605647		2203	4300	6503	SO:0001631	upstream_gene_variant	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102605647T>C	BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"""WD repeat domain containing"""	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3			14.37:g.102605647T>C	Exception_encountered					WDR20_uc001yky.1_5'Flank|WDR20_uc001yla.2_5'Flank|WDR20_uc001ykz.2_5'Flank|WDR20_uc001ylb.2_5'Flank|WDR20_uc010txu.1_5'Flank|WDR20_uc001ylc.2_5'Flank|WDR20_uc001yld.2_5'Flank|WDR20_uc001yle.2_5'Flank|WDR20_uc001ylf.2_5'Flank	p.D32G	NM_001017963	NP_001017963	P07900	HS90A_HUMAN			1	440	-			Error:Variant_position_missing_in_P07900_after_alignment					B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Missense_Mutation	SNP	ENST00000342702.3	37	c.95A>G	CCDS9969.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.144445	0.37825	.	.	ENSG00000080824	ENST00000334701	T	0.13657	2.57	2.82	-3.57	0.04612	.	.	.	.	.	T	0.05135	0.0137	N	0.08118	0	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.36962	-0.9726	9	0.87932	D	0	.	0.6497	0.00824	0.1923:0.3315:0.1953:0.2808	.	32	P07900-2	.	G	32	ENSP00000335153:D32G	ENSP00000335153:D32G	D	-	2	0	HSP90AA1	101675400	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.532000	0.06164	-0.754000	0.04715	0.533000	0.62120	GAC		PASS	0.642	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414963.1	NM_181291		21	34	21	34	---	---	---	---
CYFIP1	23191	broad.mit.edu	37	15	22962496	22962496	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr15:22962496A>T	ENST00000313077.7	+	20	2341	c.2216A>T	c.(2215-2217)cAc>cTc	p.H739L	CYFIP1_ENST00000560848.1_Missense_Mutation_p.H739L|CYFIP1_ENST00000435939.2_Missense_Mutation_p.H308L	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1									p.H739L(1)|p.H308L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCCACGATCCACCTCCCGCCG	0.507																																						uc001yus.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(3)|liver(1)|skin(1)	9						c.(2215-2217)CAC>CTC		cytoplasmic FMR1 interacting protein 1 isoform							62.0	60.0	61.0					15																	22962496		2203	4300	6503	SO:0001583	missense	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22962496A>T	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.2216A>T	15.37:g.22962496A>T	ENSP00000324549:p.His739Leu					CYFIP1_uc001yut.2_Missense_Mutation_p.H739L|CYFIP1_uc010aya.1_Missense_Mutation_p.H767L|CYFIP1_uc001yuu.2_Missense_Mutation_p.H308L	p.H739L	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	20	2320	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	739						Missense_Mutation	SNP	ENST00000313077.7	37	c.2216A>T	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.599500	0.46318	.	.	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	T;T	0.19250	2.16;2.16	5.37	5.37	0.77165	.	0.089485	0.48767	D	0.000162	T	0.11965	0.0291	N	0.19112	0.55	0.40943	D	0.984489	B;B;B	0.23185	0.081;0.0;0.001	B;B;B	0.19946	0.023;0.001;0.027	T	0.09335	-1.0679	10	0.07644	T	0.81	-31.2353	11.0198	0.47711	0.7129:0.2871:0.0:0.0	.	767;308;739	E7EQ04;Q7L576-2;Q7L576	.;.;CYFP1_HUMAN	L	739;767;308	ENSP00000324549:H739L;ENSP00000405956:H308L	ENSP00000324549:H739L	H	+	2	0	CYFIP1	20513937	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	3.625000	0.54238	2.036000	0.60181	0.533000	0.62120	CAC		PASS	0.507	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		21	23	21	23	---	---	---	---
SHF	90525	broad.mit.edu	37	15	45491044	45491044	+	Nonsense_Mutation	SNP	T	T	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr15:45491044T>A	ENST00000290894.8	-	2	723	c.229A>T	c.(229-231)Aag>Tag	p.K77*	RP11-519G16.2_ENST00000560034.1_RNA|CTD-2651B20.6_ENST00000563103.1_RNA|CTD-2651B20.7_ENST00000568314.1_RNA|SHF_ENST00000318390.6_Nonsense_Mutation_p.K134*	NM_138356.2	NP_612365			Src homology 2 domain containing F									p.K77*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		CTTTTCTTCTTCTGTTTTGGC	0.572											OREG0023105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001zuy.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(229-231)AAG>TAG		Src homology 2 domain containing F							132.0	132.0	132.0					15																	45491044		1970	4154	6124	SO:0001587	stop_gained	90525							g.chr15:45491044T>A	BC007586	CCDS10120.2, CCDS73721.1	15q21.1	2013-02-14			ENSG00000138606	ENSG00000138606		"""SH2 domain containing"""	25116	protein-coding gene	gene with protein product						11095946	Standard	NM_138356		Approved		uc001zuy.3	Q7M4L6	OTTHUMG00000131353	ENST00000290894.8:c.229A>T	15.37:g.45491044T>A	ENSP00000290894:p.Lys77*		OREG0023105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	932		p.K77*	NM_138356	NP_612365	Q7M4L6	SHF_HUMAN		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)	2	724	-		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	77						Nonsense_Mutation	SNP	ENST00000290894.8	37	c.229A>T	CCDS10120.2	.	.	.	.	.	.	.	.	.	.	T	11.35	1.613895	0.28712	.	.	ENSG00000138606	ENST00000290894;ENST00000361989;ENST00000318390	.	.	.	2.87	-5.73	0.02398	.	7739.210000	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	0.878	4.9143	0.13839	0.0:0.3555:0.2815:0.363	.	.	.	.	X	77;77;134	.	ENSP00000290894:K77X	K	-	1	0	SHF	43278336	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.905000	0.01591	-1.464000	0.01902	-0.274000	0.10170	AAG		PASS	0.572	SHF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254141.2	NM_138356		123	84	123	84	---	---	---	---
PEAK1	79834	broad.mit.edu	37	15	77471208	77471208	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr15:77471208C>G	ENST00000560626.2	-	4	3536	c.3061G>C	c.(3061-3063)Gag>Cag	p.E1021Q	PEAK1_ENST00000558305.1_Missense_Mutation_p.E1021Q|PEAK1_ENST00000312493.4_Missense_Mutation_p.E1021Q			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1021					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.E1021Q(2)|p.E1021*(2)									AATGCATTCTCTGCTCTACCC	0.468																																						uc002bcm.2																			4	Substitution - Nonsense(2)|Substitution - Missense(2)		lung(4)		0						c.(3061-3063)GAG>CAG		NKF3 kinase family member							135.0	128.0	130.0					15																	77471208		2038	4197	6235	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77471208C>G		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3061G>C	15.37:g.77471208C>G	ENSP00000452796:p.Glu1021Gln					SGK269_uc002bcn.2_Missense_Mutation_p.E1021Q	p.E1021Q	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN		STAD - Stomach adenocarcinoma(199;0.124)	3	3369	-			1021					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.3061G>C	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882339	0.33255	.	.	ENSG00000173517	ENST00000312493	T	0.69306	-0.39	5.92	4.99	0.66335	.	0.283949	0.33938	N	0.004410	T	0.51991	0.1707	N	0.19112	0.55	0.27709	N	0.945534	B	0.16166	0.016	B	0.12156	0.007	T	0.47100	-0.9143	10	0.40728	T	0.16	-12.9324	13.7454	0.62872	0.0:0.6852:0.3148:0.0	.	1021	Q9H792	PEAK1_HUMAN	Q	1021	ENSP00000309230:E1021Q	ENSP00000309230:E1021Q	E	-	1	0	AC087465.1	75258263	0.915000	0.31059	0.162000	0.22713	0.005000	0.04900	2.029000	0.41098	1.481000	0.48307	0.655000	0.94253	GAG		PASS	0.468	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			36	110	36	110	---	---	---	---
EFTUD1	79631	broad.mit.edu	37	15	82523274	82523274	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr15:82523274C>G	ENST00000268206.7	-	8	938	c.770G>C	c.(769-771)gGc>gCc	p.G257A	EFTUD1_ENST00000359445.3_Missense_Mutation_p.G206A|EFTUD1_ENST00000561331.1_5'UTR	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	257	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)	p.G257A(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTTTTTGATGCCAATTTTTTG	0.338																																						uc002bgt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(769-771)GGC>GCC		elongation factor Tu GTP binding domain							137.0	125.0	129.0					15																	82523274		1821	4066	5887	SO:0001583	missense	79631				mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	g.chr15:82523274C>G	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.770G>C	15.37:g.82523274C>G	ENSP00000268206:p.Gly257Ala					EFTUD1_uc002bgu.1_Missense_Mutation_p.G206A	p.G257A	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN			8	939	-			257					A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	ENST00000268206.7	37	c.770G>C	CCDS42071.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.026962	0.93518	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.79749	-1.3;-1.3	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000016	D	0.92093	0.7494	M	0.89658	3.05	0.80722	D	1	D;P	0.89917	1.0;0.73	D;P	0.79108	0.992;0.781	D	0.92688	0.6164	10	0.72032	D	0.01	.	20.2227	0.98327	0.0:1.0:0.0:0.0	.	206;257	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	A	257;206	ENSP00000268206:G257A;ENSP00000352418:G206A	ENSP00000268206:G257A	G	-	2	0	EFTUD1	80310329	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.561000	0.82288	2.778000	0.95560	0.650000	0.86243	GGC		PASS	0.338	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		17	140	17	140	---	---	---	---
PARN	5073	broad.mit.edu	37	16	14720998	14720998	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr16:14720998T>C	ENST00000437198.2	-	5	433	c.292A>G	c.(292-294)Aat>Gat	p.N98D	PARN_ENST00000420015.2_Intron|PARN_ENST00000539279.1_Intron|PARN_ENST00000566021.1_5'UTR|PARN_ENST00000341484.7_Missense_Mutation_p.N37D	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	98					female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)	p.N98D(2)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						GAGGATCTATTGAAGGGTTTC	0.368																																						uc010uzd.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(292-294)AAT>GAT		poly(A)-specific ribonuclease (deadenylation							66.0	61.0	62.0					16																	14720998		1840	4078	5918	SO:0001583	missense	5073				female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding	g.chr16:14720998T>C	AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"""deadenylation nuclease"""	604212	"""poly(A)-specific ribonuclease (deadenylation nuclease)"""			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.292A>G	16.37:g.14720998T>C	ENSP00000387911:p.Asn98Asp					PARN_uc010uzc.1_Missense_Mutation_p.N37D|PARN_uc010uze.1_Intron|PARN_uc010uzf.1_Intron|PARN_uc010uzg.1_Intron	p.N98D	NM_002582	NP_002573	O95453	PARN_HUMAN			5	434	-			98					B2RCB3|B4DDG8|B4DWR4|B4E1H6	Missense_Mutation	SNP	ENST00000437198.2	37	c.292A>G	CCDS45419.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.956518	0.53293	.	.	ENSG00000140694	ENST00000437198;ENST00000341484	T;T	0.21191	2.02;2.02	5.86	5.86	0.93980	Ribonuclease H-like (1);	0.345530	0.37178	N	0.002210	T	0.17152	0.0412	L	0.38838	1.175	0.80722	D	1	B	0.12630	0.006	B	0.14578	0.011	T	0.06789	-1.0807	10	0.08599	T	0.76	-6.5679	15.448	0.75248	0.0:0.0:0.0:1.0	.	98	O95453	PARN_HUMAN	D	98;37	ENSP00000387911:N98D;ENSP00000345456:N37D	ENSP00000345456:N37D	N	-	1	0	PARN	14628499	1.000000	0.71417	0.984000	0.44739	0.983000	0.72400	5.311000	0.65786	2.240000	0.73641	0.533000	0.62120	AAT		PASS	0.368	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422383.1	NM_002582		16	11	16	11	---	---	---	---
TRADD	8717	broad.mit.edu	37	16	67189189	67189189	+	Silent	SNP	C	C	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr16:67189189C>T	ENST00000345057.4	-	4	906	c.438G>A	c.(436-438)cgG>cgA	p.R146R	TRADD_ENST00000486556.1_Silent_p.R86R|TRADD_ENST00000566104.1_5'Flank	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	146					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic process (GO:0043065)|positive regulation of hair follicle development (GO:0051798)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|nucleus (GO:0005634)|receptor complex (GO:0043235)	binding, bridging (GO:0060090)|death domain binding (GO:0070513)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|signal transducer activity (GO:0004871)	p.R146R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CATCCCGGAGCCGGTCGGGCT	0.697																																						uc002eri.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(436-438)CGG>CGA		TNFRSF1A-associated via death domain							11.0	12.0	12.0					16																	67189189		2190	4286	6476	SO:0001819	synonymous_variant	8717				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity	g.chr16:67189189C>T	L41690	CCDS10829.1	16q22	2008-07-28			ENSG00000102871	ENSG00000102871			12030	protein-coding gene	gene with protein product		603500				7758105	Standard	NM_003789		Approved	Hs.89862	uc002eri.1	Q15628	OTTHUMG00000137519	ENST00000345057.4:c.438G>A	16.37:g.67189189C>T						TRADD_uc002erh.1_Silent_p.R86R	p.R146R	NM_003789	NP_003780	Q15628	TRADD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	4	518	-		Ovarian(137;0.0563)	146					B2RDS3|B3KQZ9|Q52NZ1	Silent	SNP	ENST00000345057.4	37	c.438G>A	CCDS10829.1																																																																																				PASS	0.697	TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268841.2			5	20	5	20	---	---	---	---
CENPT	80152	broad.mit.edu	37	16	67866358	67866358	+	Splice_Site	SNP	C	C	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr16:67866358C>A	ENST00000562787.1	-	5	749	c.201G>T	c.(199-201)agG>agT	p.R67S	CENPT_ENST00000564817.1_Splice_Site_p.R67S|CENPT_ENST00000440851.2_Splice_Site_p.R67S|CENPT_ENST00000562947.1_5'Flank|CENPT_ENST00000219172.3_Splice_Site_p.R67S|CENPT_ENST00000445712.2_5'UTR	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	67					chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R67S(1)		NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GGGTACTTACCCTGGCTCCAT	0.607																																						uc002eun.3																			1	Substitution - Missense(1)		lung(1)		0						c.(199-201)AGG>AGT		centromere protein T							68.0	73.0	71.0					16																	67866358		1947	4131	6078	SO:0001630	splice_region_variant	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67866358C>A	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.201+1G>T	16.37:g.67866358C>A						CENPT_uc002eum.3_Missense_Mutation_p.R67S|CENPT_uc010vkc.1_5'UTR|CENPT_uc010vkd.1_5'UTR|CENPT_uc010vke.1_5'UTR	p.R67S	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	5	750	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	67					Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	c.201G>T	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671015	0.67814	.	.	ENSG00000102901	ENST00000440851;ENST00000219172	T;T	0.55588	0.51;0.51	5.23	1.06	0.20224	.	0.781806	0.11912	N	0.517618	T	0.46054	0.1373	M	0.65975	2.015	0.80722	D	1	B;B	0.32829	0.386;0.206	B;B	0.34242	0.178;0.085	T	0.29610	-1.0006	9	.	.	.	-1.0547	4.5346	0.12022	0.1547:0.5917:0.0:0.2536	.	67;67	Q96BT3;B3KPB2	CENPT_HUMAN;.	S	67	ENSP00000400140:R67S;ENSP00000219172:R67S	.	R	-	3	2	CENPT	66423859	0.341000	0.24801	0.224000	0.23877	0.019000	0.09904	0.353000	0.20130	0.136000	0.18733	-0.150000	0.13652	AGG		PASS	0.607	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082	Missense_Mutation	31	63	31	63	---	---	---	---
COX10	1352	broad.mit.edu	37	17	13980210	13980210	+	Silent	SNP	G	G	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr17:13980210G>A	ENST00000261643.3	+	3	413	c.336G>A	c.(334-336)aaG>aaA	p.K112K	COX10_ENST00000537334.1_Intron|COX10_ENST00000429152.2_Silent_p.K112K|COX10_ENST00000536205.1_5'UTR	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	112					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)	p.K112K(1)		cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TGTCCAGAAAGCCAAATGAAA	0.413																																						uc002gof.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(334-336)AAG>AAA		heme A:farnesyltransferase precursor							86.0	82.0	84.0					17																	13980210		2203	4300	6503	SO:0001819	synonymous_variant	1352				heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity	g.chr17:13980210G>A	U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"""Mitochondrial respiratory chain complex assembly factors"""	2260	protein-coding gene	gene with protein product	"""heme A: farnesyltransferase"", ""protoheme IX farnesyltransferase, mitochondrial"", ""heme O synthase"""	602125	"""COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)"", ""COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"""			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.336G>A	17.37:g.13980210G>A						COX10_uc010vvs.1_Intron|COX10_uc010vvt.1_5'UTR	p.K112K	NM_001303	NP_001294	Q12887	COX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)	3	540	+		all_lung(20;0.06)|Lung SC(565;0.168)	112					B2R6U5|B4DJ50|O15334|Q969F7	Silent	SNP	ENST00000261643.3	37	c.336G>A	CCDS11166.1	.	.	.	.	.	.	.	.	.	.	G	6.342	0.431112	0.12045	.	.	ENSG00000006695	ENST00000429152	.	.	.	5.35	-0.531	0.11894	.	.	.	.	.	T	0.20981	0.0505	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24512	-1.0158	4	.	.	.	.	2.5209	0.04680	0.2705:0.1156:0.4952:0.1187	.	.	.	.	T	73	.	.	A	+	1	0	COX10	13920935	0.607000	0.26958	0.149000	0.22428	0.226000	0.24999	0.174000	0.16743	0.061000	0.16311	-0.794000	0.03295	GCC		PASS	0.413	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303		53	42	53	42	---	---	---	---
FAM27L	284123	broad.mit.edu	37	17	21825572	21825572	+	lincRNA	SNP	C	C	T	rs544493136		TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr17:21825572C>T	ENST00000426869.3	+	0	276					NR_028336.1		Q8N5T8	FA27L_HUMAN	family with sequence similarity 27-like									p.F24F(2)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		ggagggtgttcgggtgagtct	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		17409	0.0		0.0	False		,,,				2504	0.001					uc002gyz.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)		0								Homo sapiens family with sequence similarity 27-like, mRNA (cDNA clone MGC:35151 IMAGE:5169482), complete cds.							42.0	49.0	47.0					17																	21825572		2017	4170	6187			284123							g.chr17:21825572C>T	BC031617		17p11.2	2014-01-28				ENSG00000178130			32410	protein-coding gene	gene with protein product							Standard	NR_028336		Approved	MGC35151	uc002gyz.4	Q8N5T8			17.37:g.21825572C>T								NR_028336					UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)	1		+									RNA	SNP	ENST00000426869.3	37	c.203C>T																																																																																					PASS	0.632	FAM27L-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389059.2	NM_203392		29	104	29	104	---	---	---	---
MYO18A	399687	broad.mit.edu	37	17	27437117	27437117	+	Silent	SNP	G	G	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr17:27437117G>A	ENST00000527372.1	-	19	3270	c.3090C>T	c.(3088-3090)gaC>gaT	p.D1030D	MYO18A_ENST00000354329.4_Silent_p.D1030D|MYO18A_ENST00000531253.1_Silent_p.D1030D|MYO18A_ENST00000533112.1_Silent_p.D1030D	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1030	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.D1030D(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CGATGAGGGCGTCCTGCCGAG	0.622																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(3088-3090)GAC>GAT		myosin 18A isoform a							34.0	42.0	39.0					17																	27437117		2152	4258	6410	SO:0001819	synonymous_variant	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27437117G>A	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.3090C>T	17.37:g.27437117G>A						MYO18A_uc010wbc.1_Silent_p.D572D|MYO18A_uc002hds.2_Silent_p.D572D|MYO18A_uc010csa.1_Silent_p.D1030D|MYO18A_uc002hdu.1_Silent_p.D1030D|MYO18A_uc010wbd.1_Silent_p.D699D	p.D1030D	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		19	3248	-			1030			Myosin head-like.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Silent	SNP	ENST00000527372.1	37	c.3090C>T	CCDS45642.1																																																																																				PASS	0.622	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		10	30	10	30	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29701119	29701119	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr17:29701119G>C	ENST00000358273.4	+	58	8849	c.8466G>C	c.(8464-8466)caG>caC	p.Q2822H	NF1_ENST00000444181.2_Missense_Mutation_p.Q615H|NF1_ENST00000356175.3_Missense_Mutation_p.Q2801H	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2822					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.Q2822H(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCCAAGTGCAGAAGCAAAGAA	0.463			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		13	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(2)		soft_tissue(7)|lung(3)|autonomic_ganglia(2)|central_nervous_system(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(8464-8466)CAG>CAC		neurofibromin isoform 1							91.0	86.0	88.0					17																	29701119		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29701119G>C		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.8466G>C	17.37:g.29701119G>C	ENSP00000351015:p.Gln2822His	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Missense_Mutation_p.Q2801H|NF1_uc010cso.2_Missense_Mutation_p.Q1028H|NF1_uc010wbu.1_RNA	p.Q2822H	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	58	8799	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2822					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.8466G>C	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.014229	0.54468	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	T;T;T;T	0.50001	3.09;3.24;2.93;0.76	5.52	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.49592	0.1566	N	0.24115	0.695	0.80722	D	1	D;D	0.60575	0.988;0.98	D;D	0.74674	0.984;0.965	T	0.38693	-0.9649	9	.	.	.	.	9.4853	0.38926	0.2091:0.0:0.7909:0.0	.	2801;2822	P21359-2;P21359	.;NF1_HUMAN	H	2822;2801;2485;615	ENSP00000351015:Q2822H;ENSP00000348498:Q2801H;ENSP00000389907:Q2485H;ENSP00000396481:Q615H	.	Q	+	3	2	NF1	26725245	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.405000	0.44548	2.586000	0.87340	0.655000	0.94253	CAG		PASS	0.463	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		15	75	15	75	---	---	---	---
KRT37	8688	broad.mit.edu	37	17	39580033	39580033	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr17:39580033C>A	ENST00000225550.3	-	2	555	c.556G>T	c.(556-558)Gct>Tct	p.A186S	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	186	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.A186S(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				AAGTCATCAGCAGCCAGCTTC	0.493																																						uc002hwp.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(556-558)GCT>TCT		keratin 37							120.0	100.0	107.0					17																	39580033		2203	4300	6503	SO:0001583	missense	8688					intermediate filament	structural molecule activity	g.chr17:39580033C>A	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.556G>T	17.37:g.39580033C>A	ENSP00000225550:p.Ala186Ser					uc002hwo.1_RNA	p.A186S	NM_003770	NP_003761	O76014	KRT37_HUMAN			2	603	-		Breast(137;0.000496)	186			Rod.|Coil 1B.			Missense_Mutation	SNP	ENST00000225550.3	37	c.556G>T	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	.	15.99	2.994917	0.54041	.	.	ENSG00000108417	ENST00000225550	D	0.89552	-2.53	4.86	4.86	0.63082	Filament (1);	0.282328	0.25119	N	0.032995	D	0.87924	0.6300	M	0.79343	2.45	0.34774	D	0.734085	P	0.35192	0.489	B	0.29862	0.108	D	0.91585	0.5282	10	0.42905	T	0.14	.	15.1268	0.72489	0.0:1.0:0.0:0.0	.	186	O76014	KRT37_HUMAN	S	186	ENSP00000225550:A186S	ENSP00000225550:A186S	A	-	1	0	KRT37	36833559	0.012000	0.17670	0.934000	0.37439	0.989000	0.77384	2.100000	0.41777	2.253000	0.74438	0.655000	0.94253	GCT		PASS	0.493	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		13	68	13	68	---	---	---	---
SKAP1	8631	broad.mit.edu	37	17	46257527	46257527	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr17:46257527C>T	ENST00000336915.6	-	9	784	c.715G>A	c.(715-717)Gac>Aac	p.D239N	SKAP1_ENST00000584924.1_Missense_Mutation_p.D239N	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	239					positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.D239N(1)		large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						CTTGGGGAGTCAAAACCATCA	0.423																																						uc002ini.1																			1	Substitution - Missense(1)		lung(1)		0						c.(715-717)GAC>AAC		src kinase associated phosphoprotein 1 isoform							107.0	99.0	102.0					17																	46257527		2203	4300	6503	SO:0001583	missense	8631				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding	g.chr17:46257527C>T	Y11215	CCDS32674.1	17q21.32	2013-01-10	2006-09-28	2006-09-28		ENSG00000141293		"""Pleckstrin homology (PH) domain containing"""	15605	protein-coding gene	gene with protein product		604969	"""src family associated phosphoprotein 1"""	SCAP1		9195899	Standard	NM_003726		Approved	SKAP55	uc002ini.1	Q86WV1		ENST00000336915.6:c.715G>A	17.37:g.46257527C>T	ENSP00000338171:p.Asp239Asn					SKAP1_uc002inj.1_Missense_Mutation_p.D239N|SKAP1_uc010dbd.1_Missense_Mutation_p.D145N|SKAP1_uc010dbe.1_Missense_Mutation_p.D239N	p.D239N	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN			9	827	-			239					D3DTV1|O15268	Missense_Mutation	SNP	ENST00000336915.6	37	c.715G>A	CCDS32674.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.556131	0.27827	.	.	ENSG00000141293	ENST00000336915	T	0.23754	1.89	6.17	4.2	0.49525	.	0.463293	0.26963	N	0.021606	T	0.36744	0.0978	L	0.58101	1.795	0.30480	N	0.772499	P;D	0.71674	0.93;0.998	P;P	0.57425	0.452;0.82	T	0.28554	-1.0040	10	0.18710	T	0.47	-53.441	11.2071	0.48775	0.0:0.8577:0.0:0.1423	.	239;239	Q86WV1-2;Q86WV1	.;SKAP1_HUMAN	N	239	ENSP00000338171:D239N	ENSP00000338171:D239N	D	-	1	0	SKAP1	43612526	0.995000	0.38212	0.726000	0.30738	0.799000	0.45148	3.367000	0.52350	0.946000	0.37632	0.655000	0.94253	GAC		PASS	0.423	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443432.1	NM_003726		34	86	34	86	---	---	---	---
APPBP2	10513	broad.mit.edu	37	17	58543698	58543698	+	Missense_Mutation	SNP	T	T	C	rs140223877		TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr17:58543698T>C	ENST00000083182.3	-	5	913	c.626A>G	c.(625-627)tAt>tGt	p.Y209C	APPBP2_ENST00000592995.1_5'Flank	NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	209					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)	p.Y209C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			CAGTTCTCCATAGAGTGCAGC	0.348																																						uc002iys.1																			1	Substitution - Missense(1)		lung(1)		0						c.(625-627)TAT>TGT		amyloid beta precursor protein-binding protein		T	CYS/TYR	0,4406		0,0,2203	175.0	145.0	155.0		626	5.2	1.0	17	dbSNP_134	155	2,8598	2.2+/-6.3	0,2,4298	yes	missense	APPBP2	NM_006380.2	194	0,2,6501	CC,CT,TT		0.0233,0.0,0.0154	benign	209/586	58543698	2,13004	2203	4300	6503	SO:0001583	missense	10513				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	g.chr17:58543698T>C	AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"""protein interacting with APP tail 1"""	605324	"""amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"""			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.626A>G	17.37:g.58543698T>C	ENSP00000083182:p.Tyr209Cys					APPBP2_uc010ddl.1_Missense_Mutation_p.Y138C	p.Y209C	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)		5	914	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		209			TPR 3.		A8K862|O95095|Q8WVC9	Missense_Mutation	SNP	ENST00000083182.3	37	c.626A>G	CCDS32699.1	.	.	.	.	.	.	.	.	.	.	T	14.91	2.677671	0.47886	0.0	2.33E-4	ENSG00000062725	ENST00000083182	T	0.78246	-1.16	5.15	5.15	0.70609	Tetratricopeptide-like helical (1);	0.053660	0.85682	D	0.000000	T	0.69024	0.3065	L	0.49126	1.545	0.80722	D	1	P	0.39131	0.661	B	0.33042	0.157	T	0.72204	-0.4361	10	0.54805	T	0.06	-29.9993	10.5066	0.44836	0.1447:0.0:0.0:0.8553	.	209	Q92624	APBP2_HUMAN	C	209	ENSP00000083182:Y209C	ENSP00000083182:Y209C	Y	-	2	0	APPBP2	55898480	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.758000	0.68776	2.059000	0.61396	0.374000	0.22700	TAT		PASS	0.348	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1	NM_006380		102	124	102	124	---	---	---	---
EPG5	57724	broad.mit.edu	37	18	43531083	43531083	+	Silent	SNP	G	G	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr18:43531083G>C	ENST00000282041.5	-	4	1408	c.1374C>G	c.(1372-1374)ctC>ctG	p.L458L		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	458					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.L458L(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TCTGCAGCCAGAGAAGAATAT	0.348																																						uc002lbm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1372-1374)CTC>CTG		hypothetical protein LOC57724							116.0	104.0	108.0					18																	43531083		1856	4101	5957	SO:0001819	synonymous_variant	57724				autophagy			g.chr18:43531083G>C	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1374C>G	18.37:g.43531083G>C						KIAA1632_uc002lbo.1_Silent_p.L458L	p.L458L	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			4	1474	-			458					A2BDF3|Q9H8C8	Silent	SNP	ENST00000282041.5	37	c.1374C>G	CCDS11926.2																																																																																				PASS	0.348	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		20	71	20	71	---	---	---	---
SMAD7	4092	broad.mit.edu	37	18	46474754	46474754	+	Splice_Site	SNP	C	C	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr18:46474754C>A	ENST00000262158.2	-	2	953	c.667G>T	c.(667-669)Gca>Tca	p.A223S	SMAD7_ENST00000589634.1_Splice_Site_p.D223Y|SMAD7_ENST00000591805.1_Splice_Site_p.A8S	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	223					adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)	p.A223S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					ATCTACTCACCAGTTGGTTTG	0.423																																						uc002ldg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(667-669)GCA>TCA		SMAD family member 7							44.0	50.0	48.0					18																	46474754		2203	4300	6503	SO:0001630	splice_region_variant	4092				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:46474754C>A	AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665		"""SMADs"""	6773	protein-coding gene	gene with protein product		602932	"""MAD, mothers against decapentaplegic homolog 7 (Drosophila)"", ""SMAD, mothers against DPP homolog 7 (Drosophila)"""	MADH8, MADH7		9256479, 9730599	Standard	NM_005904		Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.667+1G>T	18.37:g.46474754C>A						SMAD7_uc010xde.1_Missense_Mutation_p.A8S	p.A223S	NM_005904	NP_005895	O15105	SMAD7_HUMAN			2	954	-	Colorectal(1;0.0518)		223					B7Z773|K7EQ10|O14740|Q6DK23	Missense_Mutation	SNP	ENST00000262158.2	37	c.667G>T	CCDS11936.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983416	0.53827	.	.	ENSG00000101665	ENST00000545051;ENST00000262158	D	0.96745	-4.11	5.01	5.01	0.66863	SMAD/FHA domain (1);	0.508943	0.13995	U	0.348536	D	0.94026	0.8086	L	0.44542	1.39	0.80722	D	1	B	0.14438	0.01	B	0.04013	0.001	D	0.90296	0.4326	9	.	.	.	.	17.9442	0.89035	0.0:1.0:0.0:0.0	.	223	O15105	SMAD7_HUMAN	S	8;223	ENSP00000262158:A223S	.	A	-	1	0	SMAD7	44728752	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.042000	0.76565	2.333000	0.79357	0.563000	0.77884	GCA		PASS	0.423	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255906.1	NM_005904	Missense_Mutation	3	59	3	59	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9038137	9038137	+	Splice_Site	SNP	C	C	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr19:9038137C>A	ENST00000397910.4	-	8	36343		c.e8-1			NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated						cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.?(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCACTGGAGCTGAGAAAAAA	0.453																																						uc002mkp.2																			2	Unknown(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.e8-1		mucin 16							58.0	57.0	58.0					19																	9038137		1912	4120	6032	SO:0001630	splice_region_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9038137C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36140-1G>T	19.37:g.9038137C>A							p.T12047_splice	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			8	36344	-								Q6ZQW5|Q96RK2	Splice_Site	SNP	ENST00000397910.4	37	c.36140_splice	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	11.58	1.679825	0.29783	.	.	ENSG00000181143	ENST00000397910	.	.	.	2.16	2.16	0.27623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.857	0.29489	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MUC16	8899137	0.023000	0.18921	0.613000	0.29037	0.288000	0.27193	0.530000	0.23036	1.517000	0.48917	0.411000	0.27672	.		PASS	0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	Intron	3	7	3	7	---	---	---	---
ZGLP1	100125288	broad.mit.edu	37	19	10419279	10419279	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr19:10419279C>T	ENST00000403903.3	-	1	1277	c.79G>A	c.(79-81)Gct>Act	p.A27T	FDX1L_ENST00000541276.1_Intron|FDX1L_ENST00000492239.1_5'Flank|ZGLP1_ENST00000403352.1_Intron|CTD-2369P2.10_ENST00000452032.2_Intron	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	27					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A27T(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						CTGGGTTTAGCCGGCCAGGGG	0.597																																						uc002mnw.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(79-81)GCT>ACT		GATA like protein-1							35.0	40.0	38.0					19																	10419279		1918	4117	6035	SO:0001583	missense	100125288				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:10419279C>T	AK096830	CCDS45959.1	19p13.2	2013-01-25			ENSG00000220201	ENSG00000220201		"""GATA zinc finger domain containing"""	37245	protein-coding gene	gene with protein product	"""GATA like protein 1"", ""GATA zinc finger domain containing 3"""	611639				16982049	Standard	NM_001103167		Approved	GLP1, GLP-1, GATAD3	uc002mnw.4	P0C6A0	OTTHUMG00000152114	ENST00000403903.3:c.79G>A	19.37:g.10419279C>T	ENSP00000384434:p.Ala27Thr					FDX1L_uc002mnx.1_Intron	p.A27T	NM_001103167	NP_001096637	P0C6A0	ZGLP1_HUMAN			1	955	-			27						Missense_Mutation	SNP	ENST00000403903.3	37	c.79G>A	CCDS45959.1	.	.	.	.	.	.	.	.	.	.	C	9.567	1.119972	0.20877	.	.	ENSG00000220201	ENST00000403903	D	0.98120	-4.73	1.96	-3.92	0.04155	.	.	.	.	.	D	0.91878	0.7429	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.81998	-0.0675	9	0.44086	T	0.13	-0.1539	3.9181	0.09231	0.0:0.2579:0.37:0.3721	.	27	P0C6A0	ZGLP1_HUMAN	T	27	ENSP00000384434:A27T	ENSP00000384434:A27T	A	-	1	0	ZGLP1	10280279	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.153000	0.03169	-1.463000	0.01904	-0.379000	0.06801	GCT		PASS	0.597	ZGLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325278.1	NM_001103167		3	44	3	44	---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13356036	13356036	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr19:13356036A>C	ENST00000360228.5	-	31	4909	c.4910T>G	c.(4909-4911)gTt>gGt	p.V1637G	CACNA1A_ENST00000573710.2_Missense_Mutation_p.V1638G|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1638					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.V1638G(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GCTGCCCAGAACAGTCACAAA	0.572																																						uc010dze.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(4912-4914)GTT>GGT		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						102.0	103.0	102.0					19																	13356036		2003	4160	6163	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13356036A>C	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4910T>G	19.37:g.13356036A>C	ENSP00000353362:p.Val1637Gly					CACNA1A_uc010xnd.1_Missense_Mutation_p.V343G|CACNA1A_uc002mwx.3_Missense_Mutation_p.V343G|CACNA1A_uc010dzc.2_Missense_Mutation_p.V1163G|CACNA1A_uc002mwy.3_Missense_Mutation_p.V1637G|CACNA1A_uc010xne.1_Missense_Mutation_p.V1166G|CACNA1A_uc002mwv.3_Missense_Mutation_p.V154G	p.V1638G	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		31	5149	-			1638			Helical; Name=S3 of repeat IV; (Potential).|IV.		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.4913T>G	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	A	17.31	3.356013	0.61293	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084;ENST00000445042	D	0.99089	-5.41	4.67	4.67	0.58626	Ion transport (1);	0.000000	0.64402	D	0.000008	D	0.99606	0.9857	H	0.99143	4.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.97523	1.0074	10	0.87932	D	0	.	13.1088	0.59261	1.0:0.0:0.0:0.0	.	1638;1641;1637;1638	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	G	1637;1641;1638;1638;254	ENSP00000353362:V1637G	ENSP00000317661:V1638G	V	-	2	0	CACNA1A	13217036	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.293000	0.96082	1.739000	0.51704	0.379000	0.24179	GTT		PASS	0.572	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		29	53	29	53	---	---	---	---
AKAP8	10270	broad.mit.edu	37	19	15465755	15465755	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr19:15465755C>G	ENST00000269701.2	-	14	2110	c.2050G>C	c.(2050-2052)Gag>Cag	p.E684Q		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	684					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E684Q(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TCTTTAGACTCTGCATCAGTT	0.532																																					GBM(190;1671 2163 3274 27186 30476)	uc002nav.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(2050-2052)GAG>CAG		A-kinase anchor protein 8							107.0	94.0	98.0					19																	15465755		2203	4300	6503	SO:0001583	missense	10270				signal transduction	nuclear matrix		g.chr19:15465755C>G	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.2050G>C	19.37:g.15465755C>G	ENSP00000269701:p.Glu684Gln					AKAP8_uc010dzy.2_Missense_Mutation_p.E233Q	p.E684Q	NM_005858	NP_005849	O43823	AKAP8_HUMAN			14	2111	-			684						Missense_Mutation	SNP	ENST00000269701.2	37	c.2050G>C	CCDS12329.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179241	0.38511	.	.	ENSG00000105127	ENST00000269701	T	0.52057	0.68	4.49	3.43	0.39272	.	0.371098	0.21111	N	0.079984	T	0.40645	0.1125	L	0.34521	1.04	0.23204	N	0.998121	P	0.52316	0.952	P	0.46585	0.521	T	0.26258	-1.0108	10	0.72032	D	0.01	-12.4342	9.7597	0.40524	0.2064:0.7936:0.0:0.0	.	684	O43823	AKAP8_HUMAN	Q	684	ENSP00000269701:E684Q	ENSP00000269701:E684Q	E	-	1	0	AKAP8	15326755	0.025000	0.19082	0.042000	0.18584	0.024000	0.10985	0.790000	0.26900	1.210000	0.43336	0.655000	0.94253	GAG		PASS	0.532	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		5	161	5	161	---	---	---	---
NCAN	1463	broad.mit.edu	37	19	19344641	19344641	+	Silent	SNP	G	G	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr19:19344641G>C	ENST00000252575.6	+	9	3162	c.3063G>C	c.(3061-3063)ggG>ggC	p.G1021G	RNU6-1028P_ENST00000517164.1_RNA|NCAN_ENST00000538881.1_Silent_p.G472G	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1021	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.G1021G(1)|p.G1035G(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	TTCATGGAGGGACATGTAATG	0.527																																						uc002nlz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)	4						c.(3061-3063)GGG>GGC		chondroitin sulfate proteoglycan 3 precursor							173.0	131.0	146.0					19																	19344641		2203	4300	6503	SO:0001819	synonymous_variant	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19344641G>C	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3063G>C	19.37:g.19344641G>C						NCAN_uc010ecc.1_Silent_p.G585G	p.G1021G	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		9	3162	+			1021			EGF-like 1.		Q9UPK6	Silent	SNP	ENST00000252575.6	37	c.3063G>C	CCDS12397.1																																																																																				PASS	0.527	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		37	193	37	193	---	---	---	---
CYP2A13	1553	broad.mit.edu	37	19	41594403	41594403	+	Silent	SNP	G	G	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr19:41594403G>A	ENST00000330436.3	+	1	27	c.27G>A	c.(25-27)gtG>gtA	p.V9V		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	9					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.V9V(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	TGCTTCTGGTGACCTTGCTGG	0.582																																						uc002opt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(25-27)GTG>GTA		cytochrome P450, family 2, subfamily A,	Clomipramine(DB01242)|Nicotine(DB00184)						69.0	57.0	62.0					19																	41594403		2203	4300	6503	SO:0001819	synonymous_variant	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41594403G>A	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.27G>A	19.37:g.41594403G>A							p.V9V	NM_000766	NP_000757	Q16696	CP2AD_HUMAN			1	36	+			9					Q53YR8|Q6R569|Q6R570|Q9H2X2	Silent	SNP	ENST00000330436.3	37	c.27G>A	CCDS12571.1																																																																																				PASS	0.582	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		13	63	13	63	---	---	---	---
MYH14	79784	broad.mit.edu	37	19	50796886	50796886	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr19:50796886A>T	ENST00000596571.1	+	36	5288	c.5288A>T	c.(5287-5289)gAg>gTg	p.E1763V	MYH14_ENST00000440075.2_Missense_Mutation_p.E1804V|MYH14_ENST00000262269.8_Missense_Mutation_p.E1804V|MYH14_ENST00000425460.1_Missense_Mutation_p.E1771V|MYH14_ENST00000376970.2_Missense_Mutation_p.E1796V|MYH14_ENST00000601313.1_Missense_Mutation_p.E1804V|MYH14_ENST00000598205.1_Missense_Mutation_p.E1771V			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1763					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E1804V(1)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GAAGAGCTGGAGGAGGAGCAG	0.627																																						uc002prr.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(5287-5289)GAG>GTG		myosin, heavy chain 14 isoform 2							46.0	49.0	48.0					19																	50796886		2192	4295	6487	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50796886A>T	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.5288A>T	19.37:g.50796886A>T	ENSP00000472819:p.Glu1763Val					MYH14_uc010enu.1_Missense_Mutation_p.E1804V|MYH14_uc002prq.1_Missense_Mutation_p.E1771V|MYH14_uc010ycb.1_Missense_Mutation_p.E114V|MYH14_uc002prs.1_Missense_Mutation_p.E114V	p.E1763V	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	37	5335	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1763			Potential.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.5288A>T	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.203034	0.79127	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	3.61	3.61	0.41365	Myosin tail (1);	.	.	.	.	D	0.89403	0.6705	M	0.86343	2.81	0.54753	D	0.999982	D;D;D	0.89917	1.0;0.998;0.997	D;D;D	0.77004	0.989;0.984;0.972	D	0.90523	0.4490	9	0.87932	D	0	.	10.7948	0.46453	1.0:0.0:0.0:0.0	.	1804;1763;1771	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	V	1804;1796;1771;1547;1804	ENSP00000406273:E1804V;ENSP00000366169:E1796V;ENSP00000407879:E1771V;ENSP00000262269:E1804V	ENSP00000262269:E1804V	E	+	2	0	MYH14	55488698	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.950000	0.93019	1.871000	0.54225	0.334000	0.21626	GAG		PASS	0.627	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		13	31	13	31	---	---	---	---
ZNF600	162966	broad.mit.edu	37	19	53269323	53269323	+	Silent	SNP	G	G	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr19:53269323G>A	ENST00000338230.3	-	3	1953	c.1686C>T	c.(1684-1686)acC>acT	p.T562T		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	562					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.T562T(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TGTGACTGAAGGTCTTGCCAC	0.438																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	uc002qab.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1684-1686)ACC>ACT		zinc finger protein 600							230.0	214.0	219.0					19																	53269323		2203	4300	6503	SO:0001819	synonymous_variant	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53269323G>A	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.1686C>T	19.37:g.53269323G>A							p.T562T	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)	3	1972	-			562			C2H2-type 15.		Q6MZR0	Silent	SNP	ENST00000338230.3	37	c.1686C>T	CCDS12856.1																																																																																				PASS	0.438	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		75	420	75	420	---	---	---	---
NLRP8	126205	broad.mit.edu	37	19	56466391	56466391	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr19:56466391A>C	ENST00000291971.3	+	3	1038	c.967A>C	c.(967-969)Acg>Ccg	p.T323P	NLRP8_ENST00000590542.1_Missense_Mutation_p.T323P	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	323	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.T323P(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GCTGAGCAAAACGATGCTTCC	0.517																																						uc002qmh.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(967-969)ACG>CCG		NLR family, pyrin domain containing 8							102.0	101.0	101.0					19																	56466391		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466391A>C	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.967A>C	19.37:g.56466391A>C	ENSP00000291971:p.Thr323Pro					NLRP8_uc010etg.2_Missense_Mutation_p.T323P	p.T323P	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1038	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	323			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.967A>C	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	A	8.794	0.931191	0.18131	.	.	ENSG00000179709	ENST00000291971	T	0.79845	-1.31	1.78	1.78	0.24846	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.73156	0.3551	L	0.36672	1.1	0.09310	N	1	B;B	0.24132	0.098;0.072	B;B	0.36808	0.118;0.233	T	0.64045	-0.6499	9	0.42905	T	0.14	.	5.6324	0.17518	1.0:0.0:0.0:0.0	.	323;323	Q86W28-2;Q86W28	.;NALP8_HUMAN	P	323	ENSP00000291971:T323P	ENSP00000291971:T323P	T	+	1	0	NLRP8	61158203	0.027000	0.19231	0.008000	0.14137	0.008000	0.06430	2.872000	0.48467	1.080000	0.41073	0.421000	0.28195	ACG		PASS	0.517	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		102	153	102	153	---	---	---	---
USP29	57663	broad.mit.edu	37	19	57641900	57641900	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr19:57641900G>C	ENST00000254181.4	+	4	2311	c.1857G>C	c.(1855-1857)caG>caC	p.Q619H	USP29_ENST00000598197.1_Missense_Mutation_p.Q619H	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	619	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.Q619H(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGCAGCATCAGAGAGACCTGG	0.493																																						uc002qny.2																			1	Substitution - Missense(1)		lung(1)	lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(1855-1857)CAG>CAC		ubiquitin specific peptidase 29							73.0	72.0	72.0					19																	57641900		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57641900G>C		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1857G>C	19.37:g.57641900G>C	ENSP00000254181:p.Gln619His						p.Q619H	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	2213	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	619						Missense_Mutation	SNP	ENST00000254181.4	37	c.1857G>C	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498349	0.26861	.	.	ENSG00000131864	ENST00000254181	T	0.74209	-0.82	2.43	1.35	0.21983	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.68072	0.2961	L	0.54323	1.7	0.09310	N	1	P	0.42483	0.781	B	0.41646	0.362	T	0.58989	-0.7538	9	0.62326	D	0.03	1.8184	7.197	0.25858	0.0:0.2767:0.7233:0.0	.	619	Q9HBJ7	UBP29_HUMAN	H	619	ENSP00000254181:Q619H	ENSP00000254181:Q619H	Q	+	3	2	USP29	62333712	0.037000	0.19845	0.046000	0.18839	0.044000	0.14063	0.229000	0.17833	0.545000	0.28902	0.467000	0.42956	CAG		PASS	0.493	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			21	91	21	91	---	---	---	---
TMC2	117532	broad.mit.edu	37	20	2577827	2577827	+	Silent	SNP	C	C	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr20:2577827C>T	ENST00000358864.1	+	10	1122	c.1107C>T	c.(1105-1107)ggC>ggT	p.G369G		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	369					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.G369G(1)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GAAGCACAGGCGAAGGGGAGA	0.527																																						uc002wgf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1105-1107)GGC>GGT		transmembrane cochlear-expressed protein 2							130.0	99.0	110.0					20																	2577827		2203	4300	6503	SO:0001819	synonymous_variant	117532					integral to membrane		g.chr20:2577827C>T	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1107C>T	20.37:g.2577827C>T						TMC2_uc002wgg.1_Silent_p.G353G|TMC2_uc010zpw.1_Silent_p.G201G|TMC2_uc010zpx.1_Silent_p.G200G	p.G369G	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN			10	1122	+			369			Cytoplasmic (Potential).		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	ENST00000358864.1	37	c.1107C>T	CCDS13029.2																																																																																				PASS	0.527	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			29	63	29	63	---	---	---	---
ADAM33	80332	broad.mit.edu	37	20	3660177	3660177	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr20:3660177C>A	ENST00000356518.2	-	2	380	c.139G>T	c.(139-141)Gat>Tat	p.D47Y	ADAM33_ENST00000379861.4_Missense_Mutation_p.D47Y|ADAM33_ENST00000350009.2_Missense_Mutation_p.D47Y	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	47					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D47Y(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GGTTGTCCATCCAGGACCCAG	0.642																																						uc002wit.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(1)|skin(1)	4						c.(139-141)GAT>TAT		ADAM metallopeptidase domain 33 isoform alpha							33.0	31.0	32.0					20																	3660177		2203	4300	6503	SO:0001583	missense	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3660177C>A	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.139G>T	20.37:g.3660177C>A	ENSP00000348912:p.Asp47Tyr					ADAM33_uc002wir.1_Missense_Mutation_p.D47Y|ADAM33_uc002wiu.2_Missense_Mutation_p.D47Y|ADAM33_uc002wiw.1_RNA|ADAM33_uc010gba.1_Missense_Mutation_p.D47Y|ADAM33_uc010gbb.1_Missense_Mutation_p.D47Y|ADAM33_uc002wix.1_Missense_Mutation_p.D47Y|ADAM33_uc010zqg.1_Missense_Mutation_p.D47Y|ADAM33_uc010zqh.1_Missense_Mutation_p.D47Y|ADAM33_uc002wiy.2_Missense_Mutation_p.D47Y	p.D47Y	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN			2	226	-			47			Extracellular (Potential).		A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	c.139G>T	CCDS13058.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195910	0.58126	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000428784;ENST00000360630;ENST00000444535;ENST00000439201;ENST00000358035;ENST00000535013;ENST00000322570;ENST00000339622	T;T;T	0.06294	3.32;3.32;3.32	4.88	2.96	0.34315	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.20129	0.0484	M	0.75777	2.31	0.28768	N	0.90055	D;D;D;D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;0.999;0.967;0.973;0.973	D;D;D;D;D;P;P;P	0.72075	0.959;0.975;0.976;0.967;0.966;0.682;0.787;0.787	T	0.02477	-1.1153	9	0.59425	D	0.04	.	6.8136	0.23819	0.0:0.7988:0.0:0.2012	.	47;47;47;47;47;47;47;47	B4DTZ3;B4E1Y6;E9PEB2;F5H888;Q7Z7E1;Q9BZ11-2;Q9BZ11;A2A2L3	.;.;.;.;.;.;ADA33_HUMAN;.	Y	47	ENSP00000348912:D47Y;ENSP00000369190:D47Y;ENSP00000322550:D47Y	ENSP00000318839:D47Y	D	-	1	0	ADAM33	3608177	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	2.652000	0.46682	1.418000	0.47098	0.655000	0.94253	GAT		PASS	0.642	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		6	25	6	25	---	---	---	---
RBBP9	10741	broad.mit.edu	37	20	18470558	18470558	+	Silent	SNP	G	G	A	rs565219087	byFrequency	TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr20:18470558G>A	ENST00000337227.4	-	5	486	c.411C>T	c.(409-411)gaC>gaT	p.D137D	RBBP9_ENST00000493184.1_5'UTR	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	137					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.D137D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						GGAACGGGTCGTCAGTAGAGC	0.483													G|||	2	0.000399361	0.0	0.0014	5008	,	,		19508	0.001		0.0	False		,,,				2504	0.0					uc002wqy.2																			1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(1)	1						c.(409-411)GAC>GAT		retinoblastoma binding protein 9							78.0	77.0	77.0					20																	18470558		2203	4300	6503	SO:0001819	synonymous_variant	10741					cytoplasm|nucleus	hydrolase activity	g.chr20:18470558G>A	AF039564	CCDS13136.1	20p11.2	2008-08-01	2001-11-28		ENSG00000089050	ENSG00000089050			9892	protein-coding gene	gene with protein product		602908	"""retinoblastoma-binding protein 9"""			9697699, 10449909	Standard	NM_006606		Approved	Bog	uc002wqy.3	O75884	OTTHUMG00000031972	ENST00000337227.4:c.411C>T	20.37:g.18470558G>A							p.D137D	NM_006606	NP_006597	O75884	RBBP9_HUMAN			5	487	-			137					D3DW31|Q5JPH9|Q9H1D8	Silent	SNP	ENST00000337227.4	37	c.411C>T	CCDS13136.1																																																																																				PASS	0.483	RBBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078175.1	NM_006606		92	80	92	80	---	---	---	---
REM1	28954	broad.mit.edu	37	20	30071999	30071999	+	Silent	SNP	C	C	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr20:30071999C>T	ENST00000201979.2	+	5	956	c.663C>T	c.(661-663)ttC>ttT	p.F221F	LINC00028_ENST00000435497.1_lincRNA	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	221					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.F221F(1)		kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ACTGTAAATTCATCGAGACAT	0.657																																						uc002wwa.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|pancreas(2)	4						c.(661-663)TTC>TTT		RAS-like GTP-binding protein REM							17.0	18.0	17.0					20																	30071999		2188	4278	6466	SO:0001819	synonymous_variant	28954				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	g.chr20:30071999C>T	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.663C>T	20.37:g.30071999C>T						NCRNA00028_uc010ztn.1_5'Flank	p.F221F	NM_014012	NP_054731	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		5	947	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		221					E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Silent	SNP	ENST00000201979.2	37	c.663C>T	CCDS13181.1																																																																																				PASS	0.657	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012		5	43	5	43	---	---	---	---
HCK	3055	broad.mit.edu	37	20	30689285	30689285	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr20:30689285A>G	ENST00000520553.1	+	13	1727	c.1481A>G	c.(1480-1482)tAc>tGc	p.Y494C	HCK_ENST00000534862.1_Missense_Mutation_p.Y495C|HCK_ENST00000375862.2_Missense_Mutation_p.Y514C|HCK_ENST00000538448.1_Missense_Mutation_p.Y494C|HCK_ENST00000518730.1_Missense_Mutation_p.Y493C|HCK_ENST00000375852.2_Missense_Mutation_p.Y515C	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	515	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.Y515C(1)|p.Y494C(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	GATGACTTCTACACGGCCACA	0.607																																						uc002wxh.2																			2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9						c.(1543-1545)TAC>TGC		hemopoietic cell kinase isoform p61HCK							43.0	36.0	38.0					20																	30689285		2203	4300	6503	SO:0001583	missense	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30689285A>G	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.1481A>G	20.37:g.30689285A>G	ENSP00000429848:p.Tyr494Cys					HCK_uc010gdy.2_Missense_Mutation_p.Y494C|HCK_uc002wxi.2_Missense_Mutation_p.Y493C	p.Y515C	NM_002110	NP_002101	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		13	1715	+			515			Protein kinase.		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	ENST00000520553.1	37	c.1544A>G	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	A	19.40	3.819916	0.71028	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	T;T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77;2.77	5.14	5.14	0.70334	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.230201	0.37437	N	0.002098	T	0.24160	0.0585	L	0.55834	1.745	0.43841	D	0.996428	D;D	0.71674	0.998;0.994	D;P	0.64877	0.93;0.853	T	0.00525	-1.1689	10	0.87932	D	0	.	9.97	0.41747	0.8386:0.0:0.0:0.1614	.	493;515	P08631-3;P08631	.;HCK_HUMAN	C	495;494;514;494;493;515	ENSP00000444986:Y495C;ENSP00000441169:Y494C;ENSP00000365022:Y514C;ENSP00000429848:Y494C;ENSP00000427757:Y493C;ENSP00000365012:Y515C	ENSP00000365012:Y515C	Y	+	2	0	HCK	30152946	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.177000	0.50871	2.161000	0.67846	0.459000	0.35465	TAC		PASS	0.607	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			14	40	14	40	---	---	---	---
CHMP4B	128866	broad.mit.edu	37	20	32438759	32438759	+	Splice_Site	SNP	G	G	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr20:32438759G>C	ENST00000217402.2	+	3	535	c.370G>C	c.(370-372)Gac>Cac	p.D124H		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	124					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|positive regulation of viral release from host cell (GO:1902188)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.D124H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						CATTTGAAGGGACATCGATAA	0.473																																						uc002xaa.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(370-372)GAC>CAC		chromatin modifying protein 4B							98.0	87.0	91.0					20																	32438759		2203	4300	6503	SO:0001630	splice_region_variant	128866				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding	g.chr20:32438759G>C	AL050349	CCDS13228.1	20q11.22	2011-09-21	2011-09-21	2005-04-04	ENSG00000101421	ENSG00000101421		"""Charged multivesicular body proteins"""	16171	protein-coding gene	gene with protein product		610897	"""chromosome 20 open reading frame 178"", ""chromatin modifying protein 4B"""	C20orf178		14678797	Standard	NM_176812		Approved	dJ553F4.4, Shax1, SNF7-2, VPS32B	uc002xaa.3	Q9H444	OTTHUMG00000032272	ENST00000217402.2:c.369-1G>C	20.37:g.32438759G>C							p.D124H	NM_176812	NP_789782	Q9H444	CHM4B_HUMAN			3	526	+			124			Potential.		E1P5N4|Q53ZD6	Missense_Mutation	SNP	ENST00000217402.2	37	c.370G>C	CCDS13228.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803763	0.90623	.	.	ENSG00000101421	ENST00000217402	T	0.74632	-0.86	5.66	5.66	0.87406	.	0.043704	0.85682	D	0.000000	D	0.90652	0.7068	H	0.94385	3.53	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.92407	0.5934	10	0.87932	D	0	-28.2506	20.1253	0.97977	0.0:0.0:1.0:0.0	.	124	Q9H444	CHM4B_HUMAN	H	124	ENSP00000217402:D124H	ENSP00000217402:D124H	D	+	1	0	CHMP4B	31902420	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.813000	0.99286	2.832000	0.97577	0.655000	0.94253	GAC		PASS	0.473	CHMP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078738.2		Missense_Mutation	12	164	12	164	---	---	---	---
CHMP4B	128866	broad.mit.edu	37	20	32438855	32438855	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr20:32438855G>C	ENST00000217402.2	+	3	631	c.466G>C	c.(466-468)Gga>Cga	p.G156R		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	156					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|positive regulation of viral release from host cell (GO:1902188)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.G156R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						TGTAGGGTTTGGAGAAGAGTT	0.448																																						uc002xaa.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(466-468)GGA>CGA		chromatin modifying protein 4B							115.0	107.0	109.0					20																	32438855		2203	4300	6503	SO:0001583	missense	128866				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding	g.chr20:32438855G>C	AL050349	CCDS13228.1	20q11.22	2011-09-21	2011-09-21	2005-04-04	ENSG00000101421	ENSG00000101421		"""Charged multivesicular body proteins"""	16171	protein-coding gene	gene with protein product		610897	"""chromosome 20 open reading frame 178"", ""chromatin modifying protein 4B"""	C20orf178		14678797	Standard	NM_176812		Approved	dJ553F4.4, Shax1, SNF7-2, VPS32B	uc002xaa.3	Q9H444	OTTHUMG00000032272	ENST00000217402.2:c.466G>C	20.37:g.32438855G>C	ENSP00000217402:p.Gly156Arg						p.G156R	NM_176812	NP_789782	Q9H444	CHM4B_HUMAN			3	622	+			156			Potential.		E1P5N4|Q53ZD6	Missense_Mutation	SNP	ENST00000217402.2	37	c.466G>C	CCDS13228.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.011713	0.93346	.	.	ENSG00000101421	ENST00000217402	T	0.72725	-0.68	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.89065	0.6609	M	0.94063	3.49	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.90377	0.4385	10	0.66056	D	0.02	-12.4629	20.5568	0.99304	0.0:0.0:1.0:0.0	.	156	Q9H444	CHM4B_HUMAN	R	156	ENSP00000217402:G156R	ENSP00000217402:G156R	G	+	1	0	CHMP4B	31902516	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	GGA		PASS	0.448	CHMP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078738.2			11	197	11	197	---	---	---	---
DDX27	55661	broad.mit.edu	37	20	47835940	47835940	+	Silent	SNP	C	C	T	rs150992243	byFrequency	TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr20:47835940C>T	ENST00000371764.4	+	1	57	c.48C>T	c.(46-48)gcC>gcT	p.A16A	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	16						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.A16A(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGTTAAGGGCCGGACCGCAGG	0.607													C|||	6	0.00119808	0.0	0.0	5008	,	,		17352	0.006		0.0	False		,,,				2504	0.0					uc002xuh.2																			1	Substitution - coding silent(1)		lung(1)	kidney(2)	2						c.(46-48)GCC>GCT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							77.0	65.0	69.0					20																	47835940		2203	4300	6503	SO:0001819	synonymous_variant	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47835940C>T	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.48C>T	20.37:g.47835940C>T							p.A16A	NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		1	109	+			16					A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Silent	SNP	ENST00000371764.4	37	c.48C>T	CCDS13416.1																																																																																				PASS	0.607	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			14	24	14	24	---	---	---	---
KCNB1	3745	broad.mit.edu	37	20	48098748	48098748	+	Silent	SNP	G	G	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr20:48098748G>T	ENST00000371741.4	-	1	436	c.270C>A	c.(268-270)ggC>ggA	p.G90G		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	90					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)	p.G90G(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	AGGTGAAGGCGCCCGGGTGGC	0.607																																						uc002xur.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(268-270)GGC>GGA		potassium voltage-gated channel, Shab-related							48.0	38.0	42.0					20																	48098748		2203	4300	6503	SO:0001819	synonymous_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:48098748G>T	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.270C>A	20.37:g.48098748G>T						KCNB1_uc002xus.1_Silent_p.G90G	p.G90G	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		1	434	-			90			Cytoplasmic (Potential).		Q14193	Silent	SNP	ENST00000371741.4	37	c.270C>A	CCDS13418.1																																																																																				PASS	0.607	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		8	60	8	60	---	---	---	---
SPATA2	9825	broad.mit.edu	37	20	48523016	48523016	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr20:48523016T>A	ENST00000422556.1	-	3	1052	c.703A>T	c.(703-705)Agc>Tgc	p.S235C	SPATA2_ENST00000289431.5_Missense_Mutation_p.S235C|SPATA2_ENST00000543716.1_Missense_Mutation_p.S98C	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	235					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.S235C(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GCCCGCTCGCTGGCCGACTTC	0.682																																						uc010gie.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(703-705)AGC>TGC		spermatogenesis associated 2							28.0	29.0	29.0					20																	48523016		2200	4298	6498	SO:0001583	missense	9825				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		g.chr20:48523016T>A	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.703A>T	20.37:g.48523016T>A	ENSP00000416799:p.Ser235Cys					SPATA2_uc002xuw.2_Missense_Mutation_p.S235C|SPATA2_uc010zyn.1_Missense_Mutation_p.S98C	p.S235C	NM_001135773	NP_001129245	Q9UM82	SPAT2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		3	1053	-	Hepatocellular(150;0.133)		235					E1P626|O94857	Missense_Mutation	SNP	ENST00000422556.1	37	c.703A>T	CCDS13422.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.165975	0.78339	.	.	ENSG00000158480	ENST00000289431;ENST00000422556;ENST00000543716	T;T;T	0.51817	0.75;0.75;0.69	5.17	5.17	0.71159	.	0.066128	0.64402	D	0.000018	T	0.63733	0.2536	L	0.55481	1.735	0.51233	D	0.999917	D	0.89917	1.0	D	0.73380	0.98	T	0.66168	-0.5991	10	0.62326	D	0.03	.	15.1749	0.72903	0.0:0.0:0.0:1.0	.	235	Q9UM82	SPAT2_HUMAN	C	235;235;98	ENSP00000289431:S235C;ENSP00000416799:S235C;ENSP00000438855:S98C	ENSP00000289431:S235C	S	-	1	0	SPATA2	47956423	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	5.237000	0.65360	2.161000	0.67846	0.528000	0.53228	AGC		PASS	0.682	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038		16	77	16	77	---	---	---	---
CASS4	57091	broad.mit.edu	37	20	55027781	55027782	+	Missense_Mutation	DNP	CG	CG	TT	rs533336238		TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr20:55027781_55027782CG>TT	ENST00000360314.3	+	6	1774_1775	c.1549_1550CG>TT	c.(1549-1551)CGg>TTg	p.R517L	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000371336.3_Missense_Mutation_p.R517L	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	517					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)	p.R517L(2)|p.R517W(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GAACAGAATTCGGGACCAGATG	0.465																																						uc002xxp.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)|skin(1)	3						c.(1549-1551)CGG>TGG|c.(1549-1551)CGG>CTG		HEF-like protein isoform a																																				SO:0001583	missense	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55027781C>T|g.chr20:55027782G>T	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	Exception_encountered	20.37:g.55027781_55027782delinsTT	ENSP00000353462:p.Arg517Leu					CASS4_uc002xxq.3_Missense_Mutation_p.R517W|CASS4_uc002xxr.2_Missense_Mutation_p.R517W|CASS4_uc010zze.1_Missense_Mutation_p.R463W|CASS4_uc010gio.2_Intron|CASS4_uc002xxq.3_Missense_Mutation_p.R517L|CASS4_uc002xxr.2_Missense_Mutation_p.R517L|CASS4_uc010zze.1_Missense_Mutation_p.R463L|CASS4_uc010gio.2_Intron	p.R517W|p.R517L	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN			6	1774|1775	+			517					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	c.1549C>T|c.1550G>T	CCDS33492.1																																																																																				PASS	0.465	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		36	80|79	36	79	---	---	---	---
NPEPL1	79716	broad.mit.edu	37	20	57289620	57289620	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr20:57289620G>A	ENST00000356091.6	+	11	1595	c.1307G>A	c.(1306-1308)cGa>cAa	p.R436Q	RP11-261P9.4_ENST00000530479.1_RNA|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525817.1_Missense_Mutation_p.R388Q|NPEPL1_ENST00000525967.1_Missense_Mutation_p.R408Q	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	436						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)	p.R436Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			CCCTAGGACCGAGACAACAGC	0.647																																						uc010zzs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1306-1308)CGA>CAA		aminopeptidase-like 1							64.0	79.0	74.0					20																	57289620		2197	4288	6485	SO:0001583	missense	79716				proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity	g.chr20:57289620G>A	AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.1307G>A	20.37:g.57289620G>A	ENSP00000348395:p.Arg436Gln					NPEPL1_uc010zzr.1_Missense_Mutation_p.R388Q|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Missense_Mutation_p.R408Q|NPEPL1_uc002xzp.2_3'UTR	p.R436Q	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)		11	1402	+	all_lung(29;0.0175)		436					A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Missense_Mutation	SNP	ENST00000356091.6	37	c.1307G>A	CCDS46621.1	.	.	.	.	.	.	.	.	.	.	G	36	5.751751	0.96890	.	.	ENSG00000215440	ENST00000525967;ENST00000525817;ENST00000356091	T;T;T	0.43294	0.95;0.95;0.95	5.58	5.58	0.84498	Peptidase M17, leucyl aminopeptidase, C-terminal (1);	0.067868	0.64402	D	0.000008	T	0.69611	0.3130	M	0.89478	3.035	0.58432	D	0.999996	D;D;D	0.76494	0.999;0.986;0.999	D;P;D	0.71184	0.969;0.805;0.972	T	0.73325	-0.4018	10	0.48119	T	0.1	-10.5793	16.7976	0.85606	0.0:0.0:1.0:0.0	.	436;388;408	Q8NDH3;G5EA34;E9PN47	PEPL1_HUMAN;.;.	Q	408;388;436	ENSP00000434810:R408Q;ENSP00000437112:R388Q;ENSP00000348395:R436Q	ENSP00000348395:R436Q	R	+	2	0	NPEPL1	56723027	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.981000	0.93465	2.629000	0.89072	0.650000	0.86243	CGA		PASS	0.647	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080402.6	NM_024663		3	6	3	6	---	---	---	---
CHRNA4	1137	broad.mit.edu	37	20	61982049	61982049	+	Silent	SNP	G	G	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr20:61982049G>A	ENST00000370263.4	-	5	935	c.714C>T	c.(712-714)gtC>gtT	p.V238V	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	238					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.V238V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GCCGCCGGATGACGAAGGCAT	0.597																																						uc002yes.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(712-714)GTC>GTT		cholinergic receptor, nicotinic, alpha 4 subunit	Nicotine(DB00184)|Varenicline(DB01273)						214.0	164.0	181.0					20																	61982049		2203	4299	6502	SO:0001819	synonymous_variant	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61982049G>A		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.714C>T	20.37:g.61982049G>A						CHRNA4_uc002yet.1_Silent_p.V62V|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Silent_p.V167V|CHRNA4_uc002yev.1_Silent_p.V62V|CHRNA4_uc010gkf.1_Silent_p.V62V	p.V238V	NM_000744	NP_000735	P43681	ACHA4_HUMAN			5	892	-	all_cancers(38;1.71e-10)		238			Extracellular (Potential).		Q4JGR7|Q4VAQ5|Q4VAQ6	Silent	SNP	ENST00000370263.4	37	c.714C>T	CCDS13517.1																																																																																				PASS	0.597	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			29	49	29	49	---	---	---	---
GRIK1	2897	broad.mit.edu	37	21	31062214	31062214	+	Silent	SNP	G	G	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr21:31062214G>C	ENST00000399907.1	-	3	789	c.378C>G	c.(376-378)ctC>ctG	p.L126L	GRIK1_ENST00000309434.7_Silent_p.L126L|GRIK1_ENST00000389125.3_Silent_p.L126L|GRIK1_ENST00000389124.2_Silent_p.L126L|GRIK1_ENST00000327783.4_Silent_p.L126L|GRIK1_ENST00000399913.1_Silent_p.L126L|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399914.1_Silent_p.L126L|GRIK1_ENST00000535441.1_Silent_p.L126L|GRIK1_ENST00000399909.1_Silent_p.L126L	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	126					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.L126L(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GTGGAACTTCGAGAGCATTGC	0.517																																						uc002yno.1																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|ovary(1)|skin(1)	3						c.(376-378)CTC>CTG		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						145.0	136.0	139.0					21																	31062214		2203	4300	6503	SO:0001819	synonymous_variant	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:31062214G>C		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.378C>G	21.37:g.31062214G>C						GRIK1_uc002ynn.2_Silent_p.L126L|GRIK1_uc011acs.1_Silent_p.L126L|GRIK1_uc011act.1_Silent_p.L70L|GRIK1_uc010glq.1_Intron|GRIK1_uc002ynr.2_Silent_p.L126L	p.L126L	NM_000830	NP_000821	P39086	GRIK1_HUMAN			3	842	-			126			Extracellular (Potential).		Q13001|Q86SU9	Silent	SNP	ENST00000399907.1	37	c.378C>G	CCDS42913.1																																																																																				PASS	0.517	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			11	296	11	296	---	---	---	---
SUSD2	56241	broad.mit.edu	37	22	24584086	24584086	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr22:24584086C>T	ENST00000358321.3	+	13	2585	c.2324C>T	c.(2323-2325)aCc>aTc	p.T775I		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	775	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T775I(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						TCCTCACCCACCCCGAAGTGC	0.647																																						uc002zzn.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2323-2325)ACC>ATC		sushi domain containing 2 precursor							61.0	60.0	60.0					22																	24584086		2203	4300	6503	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24584086C>T	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.2324C>T	22.37:g.24584086C>T	ENSP00000351075:p.Thr775Ile						p.T775I	NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN			13	2368	+			775			Sushi.|Extracellular (Potential).		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.2324C>T	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.841730	0.32513	.	.	ENSG00000099994	ENST00000358321	T	0.64803	-0.12	4.75	2.29	0.28610	Complement control module (2);Sushi/SCR/CCP (3);	0.681916	0.15106	N	0.280258	T	0.55016	0.1894	L	0.31476	0.935	0.27603	N	0.948916	P	0.43885	0.82	P	0.47528	0.549	T	0.48198	-0.9056	10	0.40728	T	0.16	-29.1591	10.8366	0.46690	0.0:0.5375:0.4625:0.0	.	775	Q9UGT4	SUSD2_HUMAN	I	775	ENSP00000351075:T775I	ENSP00000351075:T775I	T	+	2	0	SUSD2	22914086	0.009000	0.17119	0.998000	0.56505	0.151000	0.21798	0.252000	0.18278	1.114000	0.41781	0.505000	0.49811	ACC		PASS	0.647	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		15	203	15	203	---	---	---	---
CACNG2	10369	broad.mit.edu	37	22	36960438	36960438	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr22:36960438A>T	ENST00000300105.6	-	4	1913	c.932T>A	c.(931-933)cTc>cAc	p.L311H	RP5-1119A7.17_ENST00000562756.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	311					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.L311H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GTTGGAGTGGAGAGAGTCCTT	0.657																																						uc003aps.1																			1	Substitution - Missense(1)		lung(1)		0						c.(931-933)CTC>CAC		voltage-dependent calcium channel gamma-2							43.0	37.0	39.0					22																	36960438		2203	4300	6503	SO:0001583	missense	10369				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr22:36960438A>T	AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.932T>A	22.37:g.36960438A>T	ENSP00000300105:p.Leu311His						p.L311H	NM_006078	NP_006069	Q9Y698	CCG2_HUMAN			4	1214	-			311					Q2M1M1|Q5TGT3|Q9UGZ7	Missense_Mutation	SNP	ENST00000300105.6	37	c.932T>A	CCDS13931.1	.	.	.	.	.	.	.	.	.	.	A	13.34	2.206648	0.39003	.	.	ENSG00000166862	ENST00000300105	T	0.43294	0.95	5.11	5.11	0.69529	.	0.194866	0.44097	D	0.000484	T	0.40372	0.1114	L	0.32530	0.975	0.34187	D	0.671625	B	0.28512	0.214	B	0.37091	0.241	T	0.57585	-0.7786	10	0.87932	D	0	-16.3901	15.197	0.73100	1.0:0.0:0.0:0.0	.	311	Q9Y698	CCG2_HUMAN	H	311	ENSP00000300105:L311H	ENSP00000300105:L311H	L	-	2	0	CACNG2	35290384	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	5.047000	0.64232	2.072000	0.62099	0.528000	0.53228	CTC		PASS	0.657	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2			29	73	29	73	---	---	---	---
IL17REL	400935	broad.mit.edu	37	22	50439241	50439241	+	Missense_Mutation	SNP	G	G	A	rs376895359		TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr22:50439241G>A	ENST00000389983.2	-	5	425	c.161C>T	c.(160-162)aCg>aTg	p.T54M	IL17REL_ENST00000341280.5_Missense_Mutation_p.T54M	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	54								p.T54M(1)		endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CTGACACTGCGTCTCCTGGGT	0.706																																						uc003bje.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(160-162)ACG>ATG		interleukin 17 receptor E-like							16.0	19.0	18.0					22																	50439241		2199	4293	6492	SO:0001583	missense	400935							g.chr22:50439241G>A	AK123987	CCDS33679.1	22q13.33	2009-01-13			ENSG00000188263	ENSG00000188263			33808	protein-coding gene	gene with protein product		613414					Standard	NM_001001694		Approved	FLJ41993	uc003bje.1	Q6ZVW7	OTTHUMG00000150242	ENST00000389983.2:c.161C>T	22.37:g.50439241G>A	ENSP00000374633:p.Thr54Met						p.T54M	NM_001001694	NP_001001694	Q6ZVW7	I17EL_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	5	393	-		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	54					A6NCN4|A6PVC1	Missense_Mutation	SNP	ENST00000389983.2	37	c.161C>T	CCDS33679.1	.	.	.	.	.	.	.	.	.	.	g	15.38	2.816058	0.50527	.	.	ENSG00000188263	ENST00000389983;ENST00000341280	T;T	0.14144	2.53;2.53	3.68	1.46	0.22682	.	0.401332	0.22254	N	0.062505	T	0.17874	0.0429	L	0.60455	1.87	0.09310	N	1	D	0.57571	0.98	P	0.50896	0.653	T	0.09378	-1.0677	10	0.72032	D	0.01	.	5.1344	0.14926	0.3336:0.0:0.6664:0.0	.	54	Q6ZVW7	I17EL_HUMAN	M	54	ENSP00000374633:T54M;ENSP00000342520:T54M	ENSP00000342520:T54M	T	-	2	0	IL17REL	48781368	0.000000	0.05858	0.010000	0.14722	0.132000	0.20833	-0.247000	0.08866	0.026000	0.15269	0.651000	0.88453	ACG		PASS	0.706	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317011.1	NM_001001694		17	35	17	35	---	---	---	---
CLCN4	1183	broad.mit.edu	37	X	10176330	10176330	+	Silent	SNP	C	C	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chrX:10176330C>A	ENST00000380833.4	+	9	1480	c.1089C>A	c.(1087-1089)acC>acA	p.T363T	CLCN4_ENST00000421085.2_Silent_p.T269T|CLCN4_ENST00000380829.1_Silent_p.T332T	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	363					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.T363T(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCAAGACCACCAGGCTGGGGA	0.607																																					Melanoma(74;1050 1296 1576 30544 38374)	uc004csy.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(1087-1089)ACC>ACA		chloride channel 4							110.0	105.0	107.0					X																	10176330		2203	4300	6503	SO:0001819	synonymous_variant	1183					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10176330C>A	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1089C>A	X.37:g.10176330C>A						CLCN4_uc011mid.1_Silent_p.T269T	p.T363T	NM_001830	NP_001821	P51793	CLCN4_HUMAN			9	1519	+			363					A1L3U1|B7Z5Z4|Q9UBU1	Silent	SNP	ENST00000380833.4	37	c.1089C>A	CCDS14137.1																																																																																				PASS	0.607	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			56	260	56	260	---	---	---	---
ARHGAP6	395	broad.mit.edu	37	X	11682535	11682535	+	Silent	SNP	G	G	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chrX:11682535G>A	ENST00000337414.4	-	1	1286	c.414C>T	c.(412-414)gaC>gaT	p.D138D	ARHGAP6_ENST00000380718.1_Silent_p.D138D|ARHGAP6_ENST00000380732.3_Silent_p.D138D	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	138					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)	p.D138D(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CAGAAGGCAGGTCCCAGGCCA	0.627																																						uc004cup.1																			1	Substitution - coding silent(1)		lung(1)	urinary_tract(1)|lung(1)	2						c.(412-414)GAC>GAT		Rho GTPase activating protein 6 isoform 1							24.0	25.0	25.0					X																	11682535		2202	4300	6502	SO:0001819	synonymous_variant	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11682535G>A	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.414C>T	X.37:g.11682535G>A						ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Silent_p.D138D	p.D138D	NM_013427	NP_038286	O43182	RHG06_HUMAN			1	1287	-			138					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Silent	SNP	ENST00000337414.4	37	c.414C>T	CCDS14140.1																																																																																				PASS	0.627	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		19	38	19	38	---	---	---	---
TAB3	257397	broad.mit.edu	37	X	30873081	30873081	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chrX:30873081T>C	ENST00000378933.1	-	3	878	c.701A>G	c.(700-702)cAg>cGg	p.Q234R	TAB3_ENST00000378930.3_Missense_Mutation_p.Q234R|TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000288422.2_Missense_Mutation_p.Q234R|TAB3_ENST00000378932.2_Missense_Mutation_p.Q234R|TAB3-AS2_ENST00000445240.1_RNA	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	234	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.Q234R(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						CTGAGATGTCTGTCTAATATA	0.478																																					Pancreas(164;1598 1985 29022 43301 49529)	uc004dcj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(700-702)CAG>CGG		mitogen-activated protein kinase kinase kinase 7							44.0	42.0	43.0					X																	30873081		2202	4300	6502	SO:0001583	missense	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30873081T>C	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.701A>G	X.37:g.30873081T>C	ENSP00000368215:p.Gln234Arg					TAB3_uc004dck.2_Missense_Mutation_p.Q234R|TAB3_uc010ngl.2_Missense_Mutation_p.Q234R	p.Q234R	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN			6	1364	-			234			Pro-rich.		A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	c.701A>G	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	T	0.620	-0.821418	0.02755	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	4.92	2.37	0.29283	.	0.106561	0.64402	D	0.000004	T	0.61763	0.2373	L	0.40543	1.245	0.34782	D	0.734813	B;B	0.34015	0.435;0.308	B;B	0.38755	0.281;0.146	T	0.62172	-0.6910	10	0.25106	T	0.35	0.0061	11.2869	0.49226	0.0:0.0:0.285:0.715	.	234;234	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	R	234	ENSP00000368215:Q234R;ENSP00000368212:Q234R;ENSP00000288422:Q234R;ENSP00000368214:Q234R	ENSP00000288422:Q234R	Q	-	2	0	TAB3	30783002	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.953000	0.49105	0.142000	0.18901	0.486000	0.48141	CAG		PASS	0.478	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		32	27	32	27	---	---	---	---
FAM47A	158724	broad.mit.edu	37	X	34150182	34150182	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chrX:34150182G>A	ENST00000346193.3	-	1	265	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	72								p.R72C(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCGTCACGGCGACAAACGAGA	0.537																																						uc004ddg.2																			1	Substitution - Missense(1)	p.R72H(1)	lung(1)	ovary(4)|central_nervous_system(1)	5						c.(214-216)CGC>TGC		hypothetical protein LOC158724							88.0	83.0	85.0					X																	34150182		2202	4300	6502	SO:0001583	missense	158724							g.chrX:34150182G>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.214C>T	X.37:g.34150182G>A	ENSP00000345029:p.Arg72Cys						p.R72C	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	247	-			72					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.214C>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399433	0.25291	.	.	ENSG00000185448	ENST00000346193	T	0.21543	2.0	1.17	0.249	0.15531	.	.	.	.	.	T	0.32102	0.0818	L	0.57536	1.79	0.09310	N	1	D	0.76494	0.999	D	0.64144	0.922	T	0.12578	-1.0542	9	0.37606	T	0.19	.	4.8243	0.13408	0.0:0.5665:0.4335:0.0	.	72	Q5JRC9	FA47A_HUMAN	C	72	ENSP00000345029:R72C	ENSP00000345029:R72C	R	-	1	0	FAM47A	34060103	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.048000	0.01406	0.021000	0.15133	-0.368000	0.07277	CGC		PASS	0.537	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		40	141	40	141	---	---	---	---
JADE3	9767	broad.mit.edu	37	X	46893118	46893118	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chrX:46893118A>T	ENST00000218343.4	+	7	1081	c.783A>T	c.(781-783)aaA>aaT	p.K261N	PHF16_ENST00000397189.1_Missense_Mutation_p.K261N	NM_014735.3	NP_055550.1												p.K261N(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						GTCCAAAGAAAGGTGGAGCCC	0.552																																						uc004dgx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(781-783)AAA>AAT		PHD finger protein 16							122.0	83.0	96.0					X																	46893118		2203	4300	6503	SO:0001583	missense	9767				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46893118A>T																												ENST00000218343.4:c.783A>T	X.37:g.46893118A>T	ENSP00000218343:p.Lys261Asn					PHF16_uc004dgy.2_Missense_Mutation_p.K261N	p.K261N	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN			7	834	+			261						Missense_Mutation	SNP	ENST00000218343.4	37	c.783A>T	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	a	17.65	3.442921	0.63067	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	T;T	0.14893	2.47;2.47	5.54	3.12	0.35913	Zinc finger, FYVE/PHD-type (1);	0.438218	0.26780	N	0.022522	T	0.31670	0.0804	M	0.74389	2.26	0.41448	D	0.987967	P	0.36633	0.562	P	0.51742	0.678	T	0.04855	-1.0922	10	0.62326	D	0.03	.	6.4093	0.21682	0.7801:0.0:0.077:0.1429	.	261	Q92613	JADE3_HUMAN	N	261	ENSP00000380373:K261N;ENSP00000218343:K261N	ENSP00000218343:K261N	K	+	3	2	PHF16	46778062	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	2.829000	0.48128	0.702000	0.31825	0.478000	0.44815	AAA		PASS	0.552	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			10	29	10	29	---	---	---	---
JADE3	9767	broad.mit.edu	37	X	46917581	46917581	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chrX:46917581C>A	ENST00000218343.4	+	11	1872	c.1574C>A	c.(1573-1575)aCa>aAa	p.T525K	PHF16_ENST00000397189.1_Missense_Mutation_p.T525K	NM_014735.3	NP_055550.1												p.T525K(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CTTCCTTTGACAAATGCACTT	0.388																																						uc004dgx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1573-1575)ACA>AAA		PHD finger protein 16							64.0	63.0	63.0					X																	46917581		2203	4300	6503	SO:0001583	missense	9767				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46917581C>A																												ENST00000218343.4:c.1574C>A	X.37:g.46917581C>A	ENSP00000218343:p.Thr525Lys					PHF16_uc004dgy.2_Missense_Mutation_p.T525K	p.T525K	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN			11	1625	+			525						Missense_Mutation	SNP	ENST00000218343.4	37	c.1574C>A	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808716	0.50421	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	T;T	0.50813	0.73;0.73	5.88	5.88	0.94601	.	0.120126	0.64402	D	0.000010	T	0.43478	0.1249	L	0.43152	1.355	0.43613	D	0.995987	P	0.36789	0.57	B	0.38264	0.269	T	0.25222	-1.0138	10	0.10636	T	0.68	.	19.1445	0.93459	0.0:1.0:0.0:0.0	.	525	Q92613	JADE3_HUMAN	K	525	ENSP00000380373:T525K;ENSP00000218343:T525K	ENSP00000218343:T525K	T	+	2	0	PHF16	46802525	1.000000	0.71417	0.993000	0.49108	0.960000	0.62799	5.418000	0.66429	2.471000	0.83476	0.600000	0.82982	ACA		PASS	0.388	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			25	160	25	160	---	---	---	---
ZNF41	7592	broad.mit.edu	37	X	47308234	47308234	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chrX:47308234G>A	ENST00000377065.4	-	5	1574	c.935C>T	c.(934-936)cCc>cTc	p.P312L	ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000313116.7_Missense_Mutation_p.P312L|ZNF41_ENST00000397050.2_Missense_Mutation_p.P322L	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	354					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.P312L(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ATCAACCTGGGGTTTCTGGGG	0.423																																						uc004dhs.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1060-1062)CCC>CTC		zinc finger protein 41							75.0	71.0	72.0					X																	47308234		2203	4300	6503	SO:0001583	missense	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47308234G>A	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.935C>T	X.37:g.47308234G>A	ENSP00000366265:p.Pro312Leu					ZNF41_uc004dhu.3_Missense_Mutation_p.P346L|ZNF41_uc004dht.3_Missense_Mutation_p.P226L|ZNF41_uc004dhv.3_Missense_Mutation_p.P322L|ZNF41_uc004dhw.3_Missense_Mutation_p.P314L|ZNF41_uc004dhy.3_Missense_Mutation_p.P312L|ZNF41_uc004dhx.3_Missense_Mutation_p.P312L|ZNF41_uc011mlm.1_Missense_Mutation_p.P226L	p.P354L	NM_153380	NP_700359	P51814	ZNF41_HUMAN			4	1128	-		all_lung(315;0.000129)	354			C2H2-type 2; degenerate.		A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	37	c.1061C>T	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	G	8.929	0.963091	0.18583	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.13901	2.55;2.55;2.55	3.32	1.45	0.22620	Zinc finger, C2H2 (1);	0.000000	0.34959	N	0.003553	T	0.06554	0.0168	N	0.16166	0.38	0.09310	N	1	B;B;B;B;B	0.14438	0.005;0.005;0.01;0.005;0.003	B;B;B;B;B	0.11329	0.003;0.003;0.006;0.005;0.002	T	0.27226	-1.0080	10	0.54805	T	0.06	.	3.5682	0.07908	0.1318:0.0:0.4278:0.4404	.	312;314;322;346;354	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	L	312;312;322	ENSP00000315173:P312L;ENSP00000366265:P312L;ENSP00000380243:P322L	ENSP00000315173:P312L	P	-	2	0	ZNF41	47193178	0.002000	0.14202	0.078000	0.20375	0.010000	0.07245	1.086000	0.30853	0.255000	0.21593	0.594000	0.82650	CCC		PASS	0.423	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		68	239	68	239	---	---	---	---
SLC35A2	7355	broad.mit.edu	37	X	48767184	48767184	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chrX:48767184G>T	ENST00000247138.5	-	2	184	c.181C>A	c.(181-183)Cca>Aca	p.P61T	SLC35A2_ENST00000413561.2_Intron|SLC35A2_ENST00000376512.1_Missense_Mutation_p.P61T|SLC35A2_ENST00000376529.3_Missense_Mutation_p.P61T|SLC35A2_ENST00000452555.2_Missense_Mutation_p.P89T|SLC35A2_ENST00000376521.1_Missense_Mutation_p.P61T|SLC35A2_ENST00000376515.3_Missense_Mutation_p.P37T|SLC35A2_ENST00000445167.2_Missense_Mutation_p.P61T	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	61					galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)	p.P61T(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						CGGTCCCCTGGCAACGTGCGG	0.597																																						uc004dlo.1																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(181-183)CCA>ACA		solute carrier family 35, member A2 isoform a							94.0	66.0	76.0					X																	48767184		2203	4300	6503	SO:0001583	missense	7355				galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity	g.chrX:48767184G>T	D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"""Solute carriers"""	11022	protein-coding gene	gene with protein product		314375	"""solute carrier family 35 (UDP-galactose transporter), member 2"""	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.181C>A	X.37:g.48767184G>T	ENSP00000247138:p.Pro61Thr					SLC35A2_uc011mml.1_Missense_Mutation_p.P74T|SLC35A2_uc004dlp.1_Missense_Mutation_p.P61T|SLC35A2_uc011mmm.1_Missense_Mutation_p.P89T|SLC35A2_uc011mmn.1_Intron|SLC35A2_uc004dlr.1_5'UTR|SLC35A2_uc004dlq.2_Missense_Mutation_p.P61T|SLC35A2_uc011mmo.1_Missense_Mutation_p.P74T	p.P61T	NM_005660	NP_005651	P78381	S35A2_HUMAN			2	185	-			61					A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	Missense_Mutation	SNP	ENST00000247138.5	37	c.181C>A	CCDS14311.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059834	0.36373	.	.	ENSG00000102100	ENST00000247138;ENST00000376529;ENST00000376521;ENST00000445167;ENST00000376515;ENST00000452555;ENST00000376512	T;T;T	0.48201	0.82;0.83;0.82	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.39064	0.1064	L	0.33093	0.98	0.58432	D	0.999999	B;B;B;B;B;B	0.33103	0.264;0.27;0.397;0.392;0.39;0.024	B;B;B;B;B;B	0.34722	0.186;0.092;0.093;0.14;0.188;0.014	T	0.19353	-1.0308	10	0.24483	T	0.36	-9.2696	15.7713	0.78170	0.0:0.0:1.0:0.0	.	74;89;74;61;61;61	B4DSH7;E7EW45;B4DE15;P78381-3;P78381-2;P78381	.;.;.;.;.;S35A2_HUMAN	T	61;61;61;61;37;89;61	ENSP00000247138:P61T;ENSP00000365704:P61T;ENSP00000416002:P89T	ENSP00000247138:P61T	P	-	1	0	SLC35A2	48652128	1.000000	0.71417	0.998000	0.56505	0.478000	0.33099	9.367000	0.97148	1.966000	0.57179	0.600000	0.82982	CCA		PASS	0.597	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060790.1	NM_005660		5	19	5	19	---	---	---	---
WDR45	11152	broad.mit.edu	37	X	48933067	48933067	+	Silent	SNP	G	G	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chrX:48933067G>T	ENST00000376372.3	-	9	964	c.783C>A	c.(781-783)gtC>gtA	p.V261V	WDR45_ENST00000473974.1_Intron|PRAF2_ENST00000376386.3_5'Flank|WDR45_ENST00000356463.3_Silent_p.V262V|WDR45_ENST00000465431.1_5'Flank|WDR45_ENST00000396681.4_Silent_p.V247V|PRAF2_ENST00000491199.1_5'Flank|WDR45_ENST00000485908.1_Silent_p.V226V|WDR45_ENST00000322995.8_Silent_p.V272V|PRAF2_ENST00000376390.4_5'Flank|WDR45_ENST00000553851.1_Silent_p.V159V|AF196779.12_ENST00000376358.3_Silent_p.V159V|WDR45_ENST00000376368.2_Silent_p.V262V	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	261					autophagy (GO:0006914)|cell death (GO:0008219)			p.V262V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CAAAGATATGGACAGTACCCT	0.552																																						uc004dmk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(781-783)GTC>GTA		WD repeat domain 45 isoform 2							57.0	49.0	51.0					X																	48933067		2202	4300	6502	SO:0001819	synonymous_variant	11152				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chrX:48933067G>T	BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.783C>A	X.37:g.48933067G>T						PRAF2_uc004dmh.2_5'Flank|PRAF2_uc004dmi.2_5'Flank|PRAF2_uc011mmt.1_Silent_p.V159V|WDR45_uc004dmj.1_Silent_p.V222V|WDR45_uc004dml.1_Silent_p.V262V|WDR45_uc004dmm.1_Silent_p.V226V|WDR45_uc010nim.1_Intron|WDR45_uc004dmn.1_Silent_p.V152V|WDR45_uc004dmo.1_Silent_p.V284V|WDR45_uc004dmp.1_Silent_p.V262V	p.V261V	NM_001029896	NP_001025067	Q9Y484	WIPI4_HUMAN			9	955	-			261			WD 3.		A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Silent	SNP	ENST00000376372.3	37	c.783C>A	CCDS35250.1	.	.	.	.	.	.	.	.	.	.	G	8.448	0.852402	0.17106	.	.	ENSG00000196998	ENST00000367375	.	.	.	3.87	2.97	0.34412	.	.	.	.	.	T	0.55940	0.1952	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49303	-0.8954	4	.	.	.	-19.4777	7.6307	0.28238	0.0:0.1775:0.6369:0.1856	.	.	.	.	T	188	.	.	P	-	1	0	WDR45	48820011	0.979000	0.34478	0.994000	0.49952	0.979000	0.70002	0.043000	0.13971	0.723000	0.32274	0.409000	0.27619	CCA		PASS	0.552	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2	NM_007075		6	19	6	19	---	---	---	---
IQSEC2	23096	broad.mit.edu	37	X	53284070	53284070	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chrX:53284070C>T	ENST00000375368.5	-	3	1213	c.1013G>A	c.(1012-1014)cGc>cAc	p.R338H	IQSEC2_ENST00000375365.2_Missense_Mutation_p.R143H|IQSEC2_ENST00000396435.3_Missense_Mutation_p.R348H			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	338	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.R345H(1)|p.R348H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GGCAGCCCTGCGGCTCAGGAA	0.602																																						uc004dsd.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1042-1044)CGC>CAC		IQ motif and Sec7 domain 2 isoform1							30.0	27.0	28.0					X																	53284070		2203	4299	6502	SO:0001583	missense	23096				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chrX:53284070C>T	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.1013G>A	X.37:g.53284070C>T	ENSP00000364517:p.Arg338His					IQSEC2_uc004dsc.2_Missense_Mutation_p.R143H	p.R348H	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN			4	1244	-			338			IQ.		B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	37	c.1043G>A		.	.	.	.	.	.	.	.	.	.	C	29.9	5.048682	0.93740	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	D;D;D	0.85013	-1.93;-1.93;-1.93	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.91064	0.7188	M	0.62723	1.935	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.91753	0.5414	10	0.59425	D	0.04	.	16.3278	0.82994	0.0:1.0:0.0:0.0	.	348;143	Q5JU85-2;Q5JU85-3	.;.	H	348;338;143	ENSP00000379712:R348H;ENSP00000364517:R338H;ENSP00000364514:R143H	ENSP00000364514:R143H	R	-	2	0	IQSEC2	53300795	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.784000	0.85713	2.108000	0.64289	0.513000	0.50165	CGC		PASS	0.602	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		5	22	5	22	---	---	---	---
ZXDA	7789	broad.mit.edu	37	X	57936554	57936554	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chrX:57936554C>A	ENST00000358697.4	-	1	513	c.301G>T	c.(301-303)Gag>Tag	p.E101*		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	101					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E101*(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						CCCGCGGTCTCCACGTCGCCA	0.746																																						uc004dve.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(301-303)GAG>TAG		zinc finger, X-linked, duplicated A							9.0	10.0	10.0					X																	57936554		2079	4108	6187	SO:0001587	stop_gained	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57936554C>A	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.301G>T	X.37:g.57936554C>A	ENSP00000351530:p.Glu101*						p.E101*	NM_007156	NP_009087	P98168	ZXDA_HUMAN			1	514	-			101					Q9UJP7	Nonsense_Mutation	SNP	ENST00000358697.4	37	c.301G>T	CCDS14376.1	.	.	.	.	.	.	.	.	.	.	.	21.6	4.171266	0.78452	.	.	ENSG00000198205	ENST00000358697	.	.	.	3.18	2.31	0.28768	.	0.818266	0.10858	N	0.626460	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.745	0.28864	0.0:0.8637:0.0:0.1363	.	.	.	.	X	101	.	.	E	-	1	0	ZXDA	57953279	0.000000	0.05858	0.664000	0.29753	0.191000	0.23601	0.069000	0.14552	0.735000	0.32537	0.284000	0.19432	GAG		PASS	0.746	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		4	21	4	21	---	---	---	---
VSIG4	11326	broad.mit.edu	37	X	65242194	65242194	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chrX:65242194C>T	ENST00000374737.4	-	8	1219	c.1111G>A	c.(1111-1113)Gcc>Acc	p.A371T	VSIG4_ENST00000412866.2_Missense_Mutation_p.A277T|VSIG4_ENST00000455586.2_3'UTR	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	371					complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.A371T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTGATCTGGGCGATGATCTGG	0.517																																						uc004dwh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1111-1113)GCC>ACC		V-set and immunoglobulin domain containing 4							103.0	78.0	86.0					X																	65242194		2203	4300	6503	SO:0001583	missense	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65242194C>T	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.1111G>A	X.37:g.65242194C>T	ENSP00000363869:p.Ala371Thr					VSIG4_uc004dwi.2_Missense_Mutation_p.A277T|VSIG4_uc010nkq.1_3'UTR|VSIG4_uc004dwj.2_3'UTR|VSIG4_uc011moy.1_3'UTR|VSIG4_uc004dwk.2_3'UTR|VSIG4_uc004dwl.2_Intron	p.A371T	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN			8	1238	-			371			Cytoplasmic (Potential).		Q6UXI4	Missense_Mutation	SNP	ENST00000374737.4	37	c.1111G>A	CCDS14383.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.958894	0.00465	.	.	ENSG00000155659	ENST00000374737;ENST00000412866	T;T	0.23552	1.9;2.27	4.4	-8.79	0.00820	.	1.030490	0.07735	N	0.945929	T	0.05731	0.0150	N	0.00707	-1.245	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.40850	-0.9541	10	0.02654	T	1	-0.0507	13.8978	0.63783	0.0:0.6967:0.0:0.3033	.	277;371	Q9Y279-3;Q9Y279	.;VSIG4_HUMAN	T	371;277	ENSP00000363869:A371T;ENSP00000394143:A277T	ENSP00000363869:A371T	A	-	1	0	VSIG4	65158919	0.061000	0.20836	0.000000	0.03702	0.039000	0.13416	-1.908000	0.01587	-2.560000	0.00474	-0.305000	0.09177	GCC		PASS	0.517	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		25	83	25	83	---	---	---	---
OPHN1	4983	broad.mit.edu	37	X	67454367	67454367	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chrX:67454367G>T	ENST00000355520.5	-	6	1089	c.448C>A	c.(448-450)Cac>Aac	p.H150N	OPHN1_ENST00000540071.1_Missense_Mutation_p.H150N	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	150					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.H150N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GAAGACAGGTGTAAGTGCCGA	0.408																																						uc004dww.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(448-450)CAC>AAC		oligophrenin 1							267.0	228.0	241.0					X																	67454367		2203	4300	6503	SO:0001583	missense	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67454367G>T	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.448C>A	X.37:g.67454367G>T	ENSP00000347710:p.His150Asn					OPHN1_uc011mpg.1_Missense_Mutation_p.H150N|OPHN1_uc004dwx.2_Missense_Mutation_p.H150N	p.H150N	NM_002547	NP_002538	O60890	OPHN1_HUMAN			6	742	-			150					B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP	ENST00000355520.5	37	c.448C>A	CCDS14388.1	.	.	.	.	.	.	.	.	.	.	G	0.391	-0.923680	0.02377	.	.	ENSG00000079482	ENST00000355520;ENST00000540071	T;T	0.30981	1.51;1.51	3.85	3.85	0.44370	IRSp53/MIM homology domain (IMD) (1);	0.113746	0.56097	D	0.000023	T	0.06280	0.0162	N	0.00303	-1.675	0.40386	D	0.979494	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.32587	-0.9901	10	0.02654	T	1	.	8.1137	0.30930	0.0:0.0:0.7601:0.2399	.	150;150;150	F5H2E3;Q6PCC1;O60890	.;.;OPHN1_HUMAN	N	150	ENSP00000347710:H150N;ENSP00000438617:H150N	ENSP00000347710:H150N	H	-	1	0	OPHN1	67371092	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.658000	0.54482	1.918000	0.55548	0.415000	0.27848	CAC		PASS	0.408	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		34	129	34	129	---	---	---	---
IGBP1	3476	broad.mit.edu	37	X	69354654	69354654	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chrX:69354654C>A	ENST00000342206.6	+	2	969	c.470C>A	c.(469-471)gCt>gAt	p.A157D	IGBP1_ENST00000356413.4_Missense_Mutation_p.A157D			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	157	Interaction with PPP2CA.				B cell activation (GO:0042113)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dephosphorylation (GO:0035306)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microtubule-based movement (GO:0060632)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	protein phosphatase type 2A regulator activity (GO:0008601)	p.A157D(1)		kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						CAAAGACAGGCTAAAATACAG	0.498																																					NSCLC(167;1189 1558 6576 8216 30387 37980 41450)	uc004dxv.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)|pancreas(1)	2						c.(469-471)GCT>GAT		immunoglobulin binding protein 1							58.0	54.0	55.0					X																	69354654		2203	4300	6503	SO:0001583	missense	3476				B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity	g.chrX:69354654C>A	Y08915	CCDS14396.1	Xq13.1-q13.3	2008-02-05			ENSG00000089289	ENSG00000089289			5461	protein-coding gene	gene with protein product	"""alpha 4"""	300139		IBP1		9441740	Standard	NM_001551		Approved		uc004dxw.3	P78318	OTTHUMG00000021767	ENST00000342206.6:c.470C>A	X.37:g.69354654C>A	ENSP00000363661:p.Ala157Asp					IGBP1_uc004dxw.2_Missense_Mutation_p.A157D	p.A157D	NM_001551	NP_001542	P78318	IGBP1_HUMAN			2	969	+			157					Q8TAB2	Missense_Mutation	SNP	ENST00000342206.6	37	c.470C>A	CCDS14396.1	.	.	.	.	.	.	.	.	.	.	.	16.57	3.160923	0.57368	.	.	ENSG00000089289	ENST00000342206;ENST00000356413	T;T	0.42513	0.97;0.97	4.42	3.55	0.40652	.	0.230012	0.42682	D	0.000663	T	0.52677	0.1749	L	0.48218	1.51	0.47276	D	0.999377	D	0.56287	0.975	D	0.68039	0.955	T	0.53294	-0.8459	10	0.87932	D	0	.	9.4894	0.38951	0.0:0.892:0.0:0.108	.	157	P78318	IGBP1_HUMAN	D	157	ENSP00000363661:A157D;ENSP00000348784:A157D	ENSP00000363661:A157D	A	+	2	0	IGBP1	69271379	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	3.972000	0.56838	0.989000	0.38761	0.513000	0.50165	GCT		PASS	0.498	IGBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057052.1			11	105	11	105	---	---	---	---
NLGN3	54413	broad.mit.edu	37	X	70389551	70389551	+	Silent	SNP	C	C	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chrX:70389551C>T	ENST00000358741.3	+	8	2454	c.2151C>T	c.(2149-2151)tcC>tcT	p.S717S	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000374051.3_Silent_p.S697S|NLGN3_ENST00000536169.1_Silent_p.S677S	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	717					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)	p.S697S(1)|p.S717S(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					TGGGGGCCTCCCTCCTGTTCC	0.637																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	uc004dzb.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(2089-2091)TCC>TCT		neuroligin 3							36.0	31.0	33.0					X																	70389551		2203	4300	6503	SO:0001819	synonymous_variant	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70389551C>T	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.2151C>T	X.37:g.70389551C>T						NLGN3_uc004dzc.2_Silent_p.S580S|NLGN3_uc011mps.1_Silent_p.S677S|NLGN3_uc004dze.2_Silent_p.S515S	p.S697S	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN			7	2395	+	Renal(35;0.156)		717			Helical; (Potential).		B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Silent	SNP	ENST00000358741.3	37	c.2091C>T	CCDS55441.1																																																																																				PASS	0.637	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		29	34	29	34	---	---	---	---
PHKA1	5255	broad.mit.edu	37	X	71872438	71872438	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chrX:71872438T>A	ENST00000373542.4	-	12	1360	c.1201A>T	c.(1201-1203)Atg>Ttg	p.M401L	PHKA1_ENST00000541944.1_Missense_Mutation_p.M401L|PHKA1_ENST00000373539.3_Missense_Mutation_p.M401L|PHKA1_ENST00000373545.3_Missense_Mutation_p.M401L|PHKA1_ENST00000339490.3_Missense_Mutation_p.M401L	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	401					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.M401L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TGACCCCACATGTGAGGCAAT	0.433																																						uc004eax.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1201-1203)ATG>TTG		phosphorylase kinase, alpha 1 (muscle) isoform							91.0	78.0	83.0					X																	71872438		2203	4300	6503	SO:0001583	missense	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71872438T>A		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.1201A>T	X.37:g.71872438T>A	ENSP00000362643:p.Met401Leu					PHKA1_uc004eay.3_Missense_Mutation_p.M401L|PHKA1_uc011mqi.1_Missense_Mutation_p.M401L	p.M401L	NM_002637	NP_002628	P46020	KPB1_HUMAN			12	1502	-	Renal(35;0.156)		401					B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	c.1201A>T	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	T	5.650	0.304600	0.10678	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21	4.91	3.73	0.42828	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.130673	0.64402	D	0.000002	T	0.66723	0.2818	N	0.04669	-0.19	0.46131	D	0.998881	B;B;B	0.30709	0.291;0.0;0.004	B;B;B	0.30943	0.122;0.003;0.013	T	0.62282	-0.6887	10	0.02654	T	1	-12.0017	7.9894	0.30231	0.0:0.1003:0.0:0.8997	.	401;401;401	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	L	401	ENSP00000362646:M401L;ENSP00000362643:M401L;ENSP00000441251:M401L;ENSP00000342469:M401L;ENSP00000362640:M401L	ENSP00000342469:M401L	M	-	1	0	PHKA1	71789163	1.000000	0.71417	0.991000	0.47740	0.951000	0.60555	4.760000	0.62235	0.544000	0.28883	0.486000	0.48141	ATG		PASS	0.433	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			28	42	28	42	---	---	---	---
CDX4	1046	broad.mit.edu	37	X	72674404	72674404	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chrX:72674404G>A	ENST00000373514.2	+	3	838	c.838G>A	c.(838-840)Gtt>Att	p.V280I		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	280					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.V280I(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GATACAGCAGGTTATAGTCTC	0.428																																						uc011mqk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(838-840)GTT>ATT		caudal type homeobox 4							70.0	56.0	61.0					X																	72674404		2203	4300	6503	SO:0001583	missense	1046					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:72674404G>A	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"""Homeoboxes / ANTP class : HOXL subclass"""	1808	protein-coding gene	gene with protein product		300025	"""caudal type homeo box transcription factor 4"""			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.838G>A	X.37:g.72674404G>A	ENSP00000362613:p.Val280Ile						p.V280I	NM_005193	NP_005184	O14627	CDX4_HUMAN			3	838	+	Renal(35;0.156)		280					A1A513|Q5JS20	Missense_Mutation	SNP	ENST00000373514.2	37	c.838G>A	CCDS14424.1	.	.	.	.	.	.	.	.	.	.	G	8.293	0.818273	0.16607	.	.	ENSG00000131264	ENST00000373514	D	0.92446	-3.04	3.91	2.05	0.26809	.	0.405610	0.22147	N	0.063967	D	0.83385	0.5243	L	0.31926	0.97	0.25901	N	0.983352	B	0.29862	0.259	B	0.23018	0.043	T	0.71699	-0.4514	10	0.32370	T	0.25	-6.1978	6.1499	0.20306	0.2781:0.0:0.7219:0.0	.	280	O14627	CDX4_HUMAN	I	280	ENSP00000362613:V280I	ENSP00000362613:V280I	V	+	1	0	CDX4	72591129	1.000000	0.71417	0.946000	0.38457	0.958000	0.62258	2.117000	0.41939	0.607000	0.29982	0.429000	0.28392	GTT		PASS	0.428	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		16	55	16	55	---	---	---	---
CYLC1	1538	broad.mit.edu	37	X	83128919	83128919	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chrX:83128919G>C	ENST00000329312.4	+	4	1240	c.1203G>C	c.(1201-1203)aaG>aaC	p.K401N		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	401					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.K401N(1)|p.K400N(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AGGATGCAAAGAAAATTACAT	0.318																																						uc004eei.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(1201-1203)AAG>AAC		cylicin, basic protein of sperm head							28.0	23.0	25.0					X																	83128919		2194	4289	6483	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128919G>C	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1203G>C	X.37:g.83128919G>C	ENSP00000331556:p.Lys401Asn					CYLC1_uc004eeh.1_Missense_Mutation_p.K400N	p.K401N	NM_021118	NP_066941	P35663	CYLC1_HUMAN			4	1224	+			401			4.		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.1203G>C	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	g	2.056	-0.416438	0.04766	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.31247	1.5	3.44	2.28	0.28536	.	.	.	.	.	T	0.48295	0.1492	M	0.72118	2.19	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.23583	-1.0184	9	0.46703	T	0.11	5.0E-4	5.1645	0.15079	0.219:0.0:0.781:0.0	.	401;401	P35663;F5H4V5	CYLC1_HUMAN;.	N	401	ENSP00000331556:K401N	ENSP00000331556:K401N	K	+	3	2	CYLC1	83015575	0.957000	0.32711	0.036000	0.18154	0.005000	0.04900	1.351000	0.34022	0.431000	0.26258	0.600000	0.82982	AAG		PASS	0.318	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		6	31	6	31	---	---	---	---
HDX	139324	broad.mit.edu	37	X	83724375	83724375	+	Missense_Mutation	SNP	C	C	T	rs141784700	byFrequency	TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chrX:83724375C>T	ENST00000297977.5	-	3	467	c.356G>A	c.(355-357)aGg>aAg	p.R119K	HDX_ENST00000373177.2_Missense_Mutation_p.R119K|HDX_ENST00000506585.2_Missense_Mutation_p.R61K	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	119						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R119K(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TGTTCCTTGCCTACTTGATGA	0.388													C|||	3	0.000794702	0.0023	0.0	3775	,	,		14442	0.0		0.0	False		,,,				2504	0.0				Pancreas(53;231 1169 36156 43751 51139)	uc004eek.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(355-357)AGG>AAG		highly divergent homeobox		C	LYS/ARG,LYS/ARG,LYS/ARG	5,3830		0,5,1627,571	246.0	205.0	218.0		182,356,356	2.0	1.0	X	dbSNP_134	218	0,6728		0,0,2428,1872	yes	missense,missense,missense	HDX	NM_001177478.1,NM_001177479.1,NM_144657.4	26,26,26	0,5,4055,2443	TT,TC,CC,C		0.0,0.1304,0.0473	benign,benign,benign	61/633,119/691,119/691	83724375	5,10558	2203	4300	6503	SO:0001583	missense	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83724375C>T	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.356G>A	X.37:g.83724375C>T	ENSP00000297977:p.Arg119Lys					HDX_uc011mqv.1_Missense_Mutation_p.R119K|HDX_uc004eel.1_Missense_Mutation_p.R61K	p.R119K	NM_144657	NP_653258	Q7Z353	HDX_HUMAN			3	465	-			119					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	c.356G>A	CCDS35342.1	3	0.0018083182640144665	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	6.980	0.550851	0.13374	0.001304	0.0	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585;ENST00000449553	T;T;T;T	0.53640	1.66;1.43;1.66;0.61	4.75	1.99	0.26369	.	0.288875	0.36374	N	0.002636	T	0.26593	0.0650	L	0.35854	1.095	0.28361	N	0.920455	B	0.06786	0.001	B	0.06405	0.002	T	0.16600	-1.0397	10	0.41790	T	0.15	-21.5771	9.0405	0.36314	0.0:0.7491:0.0:0.2509	.	119	Q7Z353	HDX_HUMAN	K	119;61;119;61	ENSP00000297977:R119K;ENSP00000362272:R61K;ENSP00000423670:R119K;ENSP00000387790:R61K	ENSP00000297977:R119K	R	-	2	0	HDX	83611031	0.971000	0.33674	0.979000	0.43373	0.402000	0.30811	1.789000	0.38724	0.170000	0.19704	-0.322000	0.08575	AGG		PASS	0.388	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		118	192	118	192	---	---	---	---
PCDH19	57526	broad.mit.edu	37	X	99551818	99551818	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chrX:99551818G>T	ENST00000373034.4	-	6	4579	c.2904C>A	c.(2902-2904)gaC>gaA	p.D968E	PCDH19_ENST00000255531.7_Missense_Mutation_p.D921E|PCDH19_ENST00000464981.1_5'Flank|PCDH19_ENST00000420881.2_Missense_Mutation_p.D920E	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	968					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D421E(1)|p.D968E(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCCAGCACCTGTCAGAGTGGC	0.493																																						uc010nmz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						c.(2902-2904)GAC>GAA		protocadherin 19 isoform b							60.0	56.0	58.0					X																	99551818		2026	4179	6205	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99551818G>T	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.2904C>A	X.37:g.99551818G>T	ENSP00000362125:p.Asp968Glu					PCDH19_uc004efw.3_Missense_Mutation_p.D920E|PCDH19_uc004efx.3_Missense_Mutation_p.D921E	p.D968E	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN			6	4580	-			968			Cytoplasmic (Potential).		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.2904C>A	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093239	0.36952	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.79352	-0.72;-1.26;-0.78	5.84	2.98	0.34508	.	0.048964	0.85682	D	0.000000	D	0.85208	0.5644	M	0.76838	2.35	0.53005	D	0.999968	D;D;D	0.89917	0.994;1.0;1.0	D;D;D	0.87578	0.978;0.998;0.996	T	0.81600	-0.0859	10	0.42905	T	0.14	.	7.9107	0.29789	0.4627:0.0:0.5373:0.0	.	968;921;920	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	E	920;968;921	ENSP00000400327:D920E;ENSP00000362125:D968E;ENSP00000255531:D921E	ENSP00000255531:D921E	D	-	3	2	PCDH19	99438474	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.529000	0.35996	0.176000	0.19873	0.600000	0.82982	GAC		PASS	0.493	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		43	144	43	144	---	---	---	---
HNRNPH2	3188	broad.mit.edu	37	X	100668298	100668298	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chrX:100668298C>A	ENST00000316594.5	+	2	1400	c.1322C>A	c.(1321-1323)tCc>tAc	p.S441Y		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	441					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S441Y(1)		breast(3)|large_intestine(2)|lung(6)|skin(1)	12						CAGGAAAACTCCAGTGACTAT	0.453																																						uc004ehm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1321-1323)TCC>TAC		heterogeneous nuclear ribonucleoprotein H2							170.0	163.0	165.0					X																	100668298		2196	4297	6493	SO:0001583	missense	3188				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:100668298C>A	U01923	CCDS14485.1	Xq22	2013-02-12		2008-04-18	ENSG00000126945	ENSG00000126945		"""RNA binding motif (RRM) containing"""	5042	protein-coding gene	gene with protein product		300610		HNRPH2		7499401	Standard	NM_019597		Approved	hnRNPH', FTP3, HNRPH'	uc004ehn.3	P55795	OTTHUMG00000022029	ENST00000316594.5:c.1322C>A	X.37:g.100668298C>A	ENSP00000361927:p.Ser441Tyr					HNRNPH2_uc004ehn.2_Missense_Mutation_p.S441Y	p.S441Y	NM_019597	NP_062543	P55795	HNRH2_HUMAN			2	1492	+			441					A1L400|Q9HHA7	Missense_Mutation	SNP	ENST00000316594.5	37	c.1322C>A	CCDS14485.1	.	.	.	.	.	.	.	.	.	.	C	6.610	0.480989	0.12581	.	.	ENSG00000126945	ENST00000457902;ENST00000316594	T	0.13196	2.61	4.52	2.75	0.32379	.	0.266045	0.40302	N	0.001123	T	0.09202	0.0227	L	0.34521	1.04	0.43043	D	0.994636	B	0.30068	0.267	B	0.25291	0.059	T	0.17837	-1.0356	10	0.59425	D	0.04	-19.3303	6.0645	0.19856	0.0:0.6684:0.0:0.3316	.	441	P55795	HNRH2_HUMAN	Y	396;441	ENSP00000361927:S441Y	ENSP00000361927:S441Y	S	+	2	0	HNRNPH2	100554954	0.994000	0.37717	1.000000	0.80357	0.992000	0.81027	0.724000	0.25954	0.466000	0.27193	0.513000	0.50165	TCC		PASS	0.453	HNRNPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057556.1	NM_019597		93	374	93	374	---	---	---	---
ARMCX2	9823	broad.mit.edu	37	X	100911569	100911569	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chrX:100911569G>T	ENST00000328766.5	-	5	1459	c.1006C>A	c.(1006-1008)Cct>Act	p.P336T	ARMCX2_ENST00000330154.2_Missense_Mutation_p.P336T|ARMCX2_ENST00000356824.4_Missense_Mutation_p.P336T|ARMCX2_ENST00000467416.1_5'Flank	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	336						integral component of membrane (GO:0016021)		p.P336T(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TCAGAATCAGGGACCTCTGCC	0.607																																						uc004eid.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(1006-1008)CCT>ACT		ALEX2 protein							63.0	64.0	64.0					X																	100911569		2203	4300	6503	SO:0001583	missense	9823					integral to membrane	binding	g.chrX:100911569G>T	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1006C>A	X.37:g.100911569G>T	ENSP00000331662:p.Pro336Thr					ARMCX2_uc004eie.3_Missense_Mutation_p.P336T|ARMCX2_uc004eif.3_Missense_Mutation_p.P336T|ARMCX2_uc004eig.3_Missense_Mutation_p.P336T|ARMCX2_uc010nnt.2_Missense_Mutation_p.P336T	p.P336T	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN			3	1361	-			336					O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	c.1006C>A	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089405	0.36855	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.35048	1.33;1.33;1.33	3.66	3.66	0.41972	.	0.311988	0.28214	N	0.016174	T	0.23965	0.0580	N	0.19112	0.55	0.29928	N	0.822179	D	0.53885	0.963	B	0.43990	0.438	T	0.13019	-1.0525	10	0.72032	D	0.01	-2.7809	7.6703	0.28455	0.0:0.0:0.7489:0.2511	.	336	Q7L311	ARMX2_HUMAN	T	336	ENSP00000331662:P336T;ENSP00000328631:P336T;ENSP00000349281:P336T	ENSP00000331662:P336T	P	-	1	0	ARMCX2	100798225	1.000000	0.71417	0.994000	0.49952	0.979000	0.70002	2.450000	0.44943	2.086000	0.62901	0.422000	0.28245	CCT		PASS	0.607	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		23	111	23	111	---	---	---	---
NRK	203447	broad.mit.edu	37	X	105152981	105152981	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chrX:105152981C>A	ENST00000243300.9	+	13	1651	c.1348C>A	c.(1348-1350)Cag>Aag	p.Q450K	NRK_ENST00000428173.2_Missense_Mutation_p.Q451K	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	450	Gln-rich.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.Q451K(1)|p.Q450K(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CATGCCACTACAGGCTCAGGT	0.572										HNSCC(51;0.14)																												uc004emd.2																			2	Substitution - Missense(2)		lung(2)	breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(1348-1350)CAG>AAG		Nik related kinase							35.0	36.0	36.0					X																	105152981		2050	4178	6228	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105152981C>A	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1348C>A	X.37:g.105152981C>A	ENSP00000434830:p.Gln450Lys	HNSCC(51;0.14)				NRK_uc010npc.1_Missense_Mutation_p.Q118K	p.Q450K	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			13	1651	+			450			Gln-rich.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.1348C>A		.	.	.	.	.	.	.	.	.	.	C	15.12	2.738199	0.49045	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.25749	1.78;1.78	4.49	4.49	0.54785	.	0.310718	0.23560	N	0.046872	T	0.30541	0.0768	L	0.55481	1.735	0.80722	D	1	P;B	0.46784	0.884;0.421	P;B	0.46076	0.503;0.154	T	0.02339	-1.1174	10	0.34782	T	0.22	.	14.0168	0.64529	0.0:1.0:0.0:0.0	.	118;450	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	K	450;451	ENSP00000434830:Q450K;ENSP00000438378:Q451K	ENSP00000434830:Q450K	Q	+	1	0	NRK	105039637	1.000000	0.71417	0.998000	0.56505	0.909000	0.53808	3.018000	0.49625	2.481000	0.83766	0.600000	0.82982	CAG		PASS	0.572	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		11	44	11	44	---	---	---	---
UTP14A	10813	broad.mit.edu	37	X	129059031	129059031	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chrX:129059031C>A	ENST00000394422.3	+	12	1637	c.1609C>A	c.(1609-1611)Cag>Aag	p.Q537K	UTP14A_ENST00000371051.5_Missense_Mutation_p.Q483K|UTP14A_ENST00000371042.3_Missense_Mutation_p.Q369K|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.Q485K	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	537					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.Q537K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						AGAAGGGCAGCAGTCAGAGAG	0.478																																						uc004euz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1609-1611)CAG>AAG		UTP14, U3 small nucleolar ribonucleoprotein,							106.0	106.0	106.0					X																	129059031		2203	4300	6503	SO:0001583	missense	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129059031C>A	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.1609C>A	X.37:g.129059031C>A	ENSP00000377944:p.Gln537Lys					UTP14A_uc011mup.1_Missense_Mutation_p.Q485K|UTP14A_uc011muq.1_Missense_Mutation_p.Q483K	p.Q537K	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN			12	1637	+			537					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	37	c.1609C>A	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	C	0.934	-0.711856	0.03206	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000371042	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	6.08	-1.06	0.10002	.	2.736900	0.00769	N	0.001182	T	0.12178	0.0296	L	0.43152	1.355	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.09377	0.004;0.004;0.003	T	0.14980	-1.0453	10	0.07325	T	0.83	13.1195	1.7489	0.02968	0.1083:0.3342:0.224:0.3335	.	483;485;537	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	K	485;537;483;369	ENSP00000388669:Q485K;ENSP00000377944:Q537K;ENSP00000360090:Q483K;ENSP00000360081:Q369K	ENSP00000360081:Q369K	Q	+	1	0	UTP14A	128886712	0.001000	0.12720	0.005000	0.12908	0.056000	0.15407	-0.280000	0.08468	-0.820000	0.04318	-0.190000	0.12839	CAG		PASS	0.478	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		44	208	44	208	---	---	---	---
TFDP3	51270	broad.mit.edu	37	X	132351916	132351916	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chrX:132351916C>A	ENST00000310125.4	-	1	460	c.372G>T	c.(370-372)agG>agT	p.R124S		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	124					cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R124S(1)|p.R64S(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TGGTCCCTTTCCTCTGCACCG	0.587																																						uc004exb.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(370-372)AGG>AGT		transcription factor Dp family, member 3							91.0	85.0	87.0					X																	132351916		2203	4299	6502	SO:0001583	missense	51270					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:132351916C>A	AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"""E2F-like protein"", ""cancer/testis antigen 30"""	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.372G>T	X.37:g.132351916C>A	ENSP00000385461:p.Arg124Ser						p.R124S	NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN			1	461	-	Acute lymphoblastic leukemia(192;0.000127)		124			Potential.		Q6DK49|Q9NZ54	Missense_Mutation	SNP	ENST00000310125.4	37	c.372G>T	CCDS14636.2	.	.	.	.	.	.	.	.	.	.	c	9.638	1.138245	0.21123	.	.	ENSG00000183434	ENST00000310125	T	0.22134	1.97	0.226	0.226	0.15353	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	.	.	.	.	T	0.10078	0.0247	N	0.04355	-0.22	0.52099	D	0.999944	B	0.25719	0.132	B	0.33254	0.16	T	0.13926	-1.0491	9	0.72032	D	0.01	.	6.186	0.20498	0.0:0.9996:0.0:4.0E-4	.	124	Q5H9I0	TFDP3_HUMAN	S	124	ENSP00000385461:R124S	ENSP00000385461:R124S	R	-	3	2	TFDP3	132179582	1.000000	0.71417	0.069000	0.20011	0.070000	0.16714	0.754000	0.26390	0.283000	0.22279	0.287000	0.19450	AGG		PASS	0.587	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1	NM_016521		35	124	35	124	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135405392	135405392	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chrX:135405392C>A	ENST00000394143.1	+	5	817	c.526C>A	c.(526-528)Cgt>Agt	p.R176S	GPR112_ENST00000412101.1_Intron|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000287534.4_Missense_Mutation_p.R113S|GPR112_ENST00000370652.1_Missense_Mutation_p.R176S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	176					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R176S(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AAGCATGATGCGTAGCTTTCC	0.448																																						uc004ezu.1																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(526-528)CGT>AGT		G-protein coupled receptor 112							185.0	160.0	169.0					X																	135405392		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135405392C>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.526C>A	X.37:g.135405392C>A	ENSP00000377699:p.Arg176Ser					GPR112_uc010nsb.1_Intron	p.R176S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			5	817	+	Acute lymphoblastic leukemia(192;0.000127)		176			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.526C>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	4.755	0.140323	0.09083	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000287534	T;T;T	0.63096	3.31;3.31;-0.02	5.62	4.75	0.60458	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.38506	0.1043	N	0.03608	-0.345	0.09310	N	1	B	0.21821	0.061	B	0.20577	0.03	T	0.24476	-1.0159	9	0.31617	T	0.26	.	10.6492	0.45638	0.3467:0.6533:0.0:0.0	.	176	Q8IZF6	GP112_HUMAN	S	176;176;113	ENSP00000377699:R176S;ENSP00000359686:R176S;ENSP00000287534:R113S	ENSP00000287534:R113S	R	+	1	0	GPR112	135233058	0.002000	0.14202	0.002000	0.10522	0.003000	0.03518	1.488000	0.35551	1.107000	0.41642	0.513000	0.50165	CGT		PASS	0.448	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			118	185	118	185	---	---	---	---
LDOC1	23641	broad.mit.edu	37	X	140271150	140271150	+	Silent	SNP	C	C	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chrX:140271150C>G	ENST00000370526.2	-	1	160	c.57G>C	c.(55-57)ctG>ctC	p.L19L	LDOC1_ENST00000460721.1_5'UTR	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	19					negative regulation of cell proliferation (GO:0008285)	nucleus (GO:0005634)		p.L19L(1)		endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					TCTCGATGCTCAGGGCGCGGT	0.677																																						uc004fbj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(55-57)CTG>CTC		leucine zipper, down-regulated in cancer 1							25.0	21.0	22.0					X																	140271150		2201	4295	6496	SO:0001819	synonymous_variant	23641				negative regulation of cell proliferation	nucleus	protein binding	g.chrX:140271150C>G	AB019527	CCDS14672.1	Xq27	2008-02-05			ENSG00000182195	ENSG00000182195			6548	protein-coding gene	gene with protein product		300402		BCUR1		10403563, 15716091, 16093683	Standard	NM_012317		Approved	Mar7, Mart7	uc004fbj.3	O95751	OTTHUMG00000022558	ENST00000370526.2:c.57G>C	X.37:g.140271150C>G							p.L19L	NM_012317	NP_036449	O95751	LDOC1_HUMAN			1	161	-	Acute lymphoblastic leukemia(192;7.65e-05)		19					Q6IAR6	Silent	SNP	ENST00000370526.2	37	c.57G>C	CCDS14672.1																																																																																				PASS	0.677	LDOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058592.1	NM_012317		4	35	4	35	---	---	---	---
MAGEA11	4110	broad.mit.edu	37	X	148797511	148797511	+	Missense_Mutation	SNP	C	C	T	rs141055931		TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chrX:148797511C>T	ENST00000355220.5	+	5	467	c.365C>T	c.(364-366)cCt>cTt	p.P122L	MAGEA11_ENST00000333104.4_Missense_Mutation_p.P93L	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	122						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P122L(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CACTGCAAGCCTGAGGAAGGC	0.577																																						uc004fdq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(364-366)CCT>CTT		melanoma antigen family A, 11 isoform a		C	LEU/PRO,LEU/PRO	0,3835		0,0,1632,571	56.0	56.0	56.0		278,365	-0.9	0.0	X	dbSNP_134	56	2,6726		0,2,2426,1872	no	missense,missense	MAGEA11	NM_001011544.1,NM_005366.4	98,98	0,2,4058,2443	TT,TC,CC,C		0.0297,0.0,0.0189	probably-damaging,probably-damaging	93/401,122/430	148797511	2,10561	2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148797511C>T		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.365C>T	X.37:g.148797511C>T	ENSP00000347358:p.Pro122Leu					HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.P93L	p.P122L	NM_005366	NP_005357	P43364	MAGAB_HUMAN			5	467	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		122					Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.365C>T	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	0.014	-1.606128	0.00842	0.0	2.97E-4	ENSG00000185247	ENST00000412632;ENST00000333104;ENST00000355220	T;T;T	0.03889	3.77;3.77;3.77	0.651	-0.928	0.10448	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.04998	0.0134	L	0.43646	1.37	0.09310	N	1	B;B	0.27910	0.161;0.193	B;B	0.38194	0.174;0.267	T	0.49360	-0.8948	8	0.10377	T	0.69	.	.	.	.	.	93;122	G5E962;P43364	.;MAGAB_HUMAN	L	93;93;122	ENSP00000391496:P93L;ENSP00000328177:P93L;ENSP00000347358:P122L	ENSP00000328177:P93L	P	+	2	0	MAGEA11	148576894	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	-2.419000	0.01033	-0.444000	0.07170	-0.435000	0.05868	CCT		PASS	0.577	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		13	125	13	125	---	---	---	---
MAGEA3	4102	broad.mit.edu	37	X	151935780	151935780	+	Silent	SNP	C	C	T	rs150153047		TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chrX:151935780C>T	ENST00000393902.3	-	3	954	c.387G>A	c.(385-387)ccG>ccA	p.P129P	MAGEA3_ENST00000370278.3_Silent_p.P129P			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	129	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.P129P(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTTGTGACCGGCTCCCTGG	0.527													c|||	1	0.000264901	0.0	0.0	3775	,	,		15862	0.001		0.0	False		,,,				2504	0.0					uc004fgp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(385-387)CCG>CCA		melanoma antigen family A, 3		C		1,3834		0,1,1631,571	131.0	123.0	126.0		387	-2.8	0.0	X	dbSNP_134	126	0,6718		0,0,2426,1866	no	coding-synonymous	MAGEA3	NM_005362.3		0,1,4057,2437	TT,TC,CC,C		0.0,0.0261,0.0095		129/315	151935780	1,10552	2203	4292	6495	SO:0001819	synonymous_variant	4102							g.chrX:151935780C>T		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"""melanoma-associated antigen 3"", ""antigen MZ2-D"", ""MAGE-3 antigen"", ""cancer/testis antigen family 1, member 3"""	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.387G>A	X.37:g.151935780C>T							p.P129P	NM_005362	NP_005353	P43357	MAGA3_HUMAN			3	596	-	Acute lymphoblastic leukemia(192;6.56e-05)		129			MAGE.		Q6FHI6	Silent	SNP	ENST00000393902.3	37	c.387G>A	CCDS14715.1																																																																																				PASS	0.527	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	NM_005362		96	167	96	167	---	---	---	---
FLNA	2316	broad.mit.edu	37	X	153594739	153594739	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chrX:153594739G>T	ENST00000369850.3	-	8	1401	c.1165C>A	c.(1165-1167)Ccc>Acc	p.P389T	FLNA_ENST00000344736.4_Missense_Mutation_p.P389T|FLNA_ENST00000360319.4_Missense_Mutation_p.P389T|FLNA_ENST00000422373.1_Missense_Mutation_p.P389T	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	389					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.P389T(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCAGGCCGGGACCTTGGGCT	0.597																																						uc004fkk.2																			1	Substitution - Missense(1)		lung(1)	breast(6)	6						c.(1165-1167)CCC>ACC		filamin A, alpha isoform 2							72.0	74.0	74.0					X																	153594739		2129	4236	6365	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153594739G>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.1165C>A	X.37:g.153594739G>T	ENSP00000358866:p.Pro389Thr					FLNA_uc010nuu.1_Missense_Mutation_p.P389T	p.P389T	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			8	1414	-	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)		389			Filamin 2.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.1165C>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	8.074	0.770946	0.15983	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05	4.71	4.71	0.59529	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93562	0.7945	M	0.89785	3.06	0.80722	D	1	D;D	0.71674	0.979;0.998	D;D	0.74674	0.967;0.984	D	0.95110	0.8237	10	0.87932	D	0	.	16.9731	0.86305	0.0:0.0:1.0:0.0	.	389;389	P21333-2;P21333	.;FLNA_HUMAN	T	389;362;389;389;389	ENSP00000353467:P389T;ENSP00000416926:P389T;ENSP00000358866:P389T;ENSP00000358863:P389T	ENSP00000358863:P389T	P	-	1	0	FLNA	153247933	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	9.857000	0.99534	1.926000	0.55796	0.464000	0.42555	CCC		PASS	0.597	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			18	98	18	98	---	---	---	---
PLXNA3	55558	broad.mit.edu	37	X	153692007	153692007	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chrX:153692007C>G	ENST00000369682.3	+	6	1696	c.1521C>G	c.(1519-1521)caC>caG	p.H507Q		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	507					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.H507Q(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGACCCGCACTGTGGTTGGT	0.706																																						uc004flm.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(1519-1521)CAC>CAG		plexin A3 precursor							12.0	13.0	13.0					X																	153692007		2180	4276	6456	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153692007C>G	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.1521C>G	X.37:g.153692007C>G	ENSP00000358696:p.His507Gln						p.H507Q	NM_017514	NP_059984	P51805	PLXA3_HUMAN			6	1694	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		507			Extracellular (Potential).		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.1521C>G	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.422700	0.43020	.	.	ENSG00000130827	ENST00000369682	T	0.24538	1.85	4.51	3.65	0.41850	.	0.094466	0.64402	D	0.000001	T	0.54447	0.1859	M	0.91196	3.185	0.47407	D	0.999413	D	0.69078	0.997	D	0.87578	0.998	T	0.58457	-0.7633	10	0.72032	D	0.01	.	7.7811	0.29066	0.0:0.7979:0.0:0.2021	.	507	P51805	PLXA3_HUMAN	Q	507	ENSP00000358696:H507Q	ENSP00000358696:H507Q	H	+	3	2	PLXNA3	153345201	1.000000	0.71417	0.983000	0.44433	0.181000	0.23173	5.544000	0.67231	0.930000	0.37217	-0.359000	0.07587	CAC		PASS	0.706	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		6	15	6	15	---	---	---	---
CTAG2	30848	broad.mit.edu	37	X	153880851	153880851	+	Silent	SNP	G	G	A			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chrX:153880851G>A	ENST00000247306.4	-	2	387	c.324C>T	c.(322-324)atC>atT	p.I108I	CTAG2_ENST00000369585.3_Silent_p.I108I	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	108						centrosome (GO:0005813)		p.I108I(3)		central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCGGGACAGGATCCTGCGGA	0.612																																						uc004fmi.1																			3	Substitution - coding silent(3)		lung(3)	pancreas(1)	1						c.(322-324)ATC>ATT		cancer/testis antigen 2 isoform LAGE-1b							43.0	42.0	43.0					X																	153880851		2203	4298	6501	SO:0001819	synonymous_variant	30848					centrosome		g.chrX:153880851G>A	AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"""CTL-recognized antigen on melanoma"", ""LAGE-1a protein"", ""cancer/testis antigen family 6, member 2a"", ""cancer/testis antigen family 6, member 2b"""	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.324C>T	X.37:g.153880851G>A						CTAG2_uc004fmh.1_Silent_p.I108I	p.I108I	NM_020994	NP_066274	O75638	CTAG2_HUMAN			2	377	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		108					O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Silent	SNP	ENST00000247306.4	37	c.324C>T	CCDS14759.1																																																																																				PASS	0.612	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061176.1	NM_020994		25	104	25	104	---	---	---	---
RBM15	64783	broad.mit.edu	37	1	110882542	110882543	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr1:110882542_110882543delTG	ENST00000369784.3	+	1	1415_1416	c.515_516delTG	c.(514-516)ctgfs	p.L172fs	RBM15_ENST00000602849.1_Frame_Shift_Del_p.L172fs|RBM15_ENST00000487146.2_Frame_Shift_Del_p.L172fs|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	172	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TACAAGACTCTGAAGATAAGCG	0.609			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001dzl.1				Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(514-516)CTGfs		RNA binding motif protein 15																																				SO:0001589	frameshift_variant	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110882542_110882543delTG	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.515_516delTG	1.37:g.110882542_110882543delTG	ENSP00000358799:p.Leu172fs		OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1430	RBM15_uc001dzm.1_Frame_Shift_Del_p.L172fs|uc001dzj.2_5'Flank	p.L172fs	NM_022768	NP_073605	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	598_599	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	172			RRM 1.		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Frame_Shift_Del	DEL	ENST00000369784.3	37	c.515_516delTG	CCDS822.1																																																																																					0.609	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		67	31	67	31	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179393337	179393343	+	Frame_Shift_Del	DEL	TTAATAT	TTAATAT	-			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr2:179393337_179393343delTTAATAT	ENST00000591111.1	-	310	102436_102442	c.102212_102218delATATTAA	c.(102211-102219)aatattaatfs	p.NIN34071fs	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.NIN26647fs|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.NIN26772fs|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.NIN26839fs|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.NIN35712fs|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.NIN33144fs|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	34071	Ig-like 151.			N -> G (in Ref. 5; AAI07798). {ECO:0000305}.	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)			TTGTCCTTCATTAATATTTTGAGATCT	0.391																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(99430-99438)AATATTAATfs		titin isoform N2-A																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179393337_179393343delTTAATAT	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.102212_102218delATATTAA	2.37:g.179393337_179393343delTTAATAT	ENSP00000465570:p.Asn34071fs					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Del_p.N26839fs|TTN_uc010zfi.1_Frame_Shift_Del_p.N26772fs|TTN_uc010zfj.1_Frame_Shift_Del_p.N26647fs|TTN_uc002umq.2_Frame_Shift_Del_p.N161fs	p.N33144fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		309	99655_99661	-			34071_34073					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	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.99431_99437delATATTAA																																																																																						0.391	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		29	27	29	27	---	---	---	---
PCDH7	5099	broad.mit.edu	37	4	30723874	30723874	+	Frame_Shift_Del	DEL	C	C	-			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr4:30723874delC	ENST00000361762.2	+	1	1838	c.830delC	c.(829-831)accfs	p.T277fs	PCDH7_ENST00000543491.1_Frame_Shift_Del_p.T277fs	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	277	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TACGAGCTGACCCTGCGAGTG	0.692																																						uc003gsk.1																			0				upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(829-831)ACCfs		protocadherin 7 isoform a precursor							6.0	9.0	8.0					4																	30723874		2105	4186	6291	SO:0001589	frameshift_variant	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30723874delC	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.830delC	4.37:g.30723874delC	ENSP00000355243:p.Thr277fs					PCDH7_uc011bxw.1_Intron|PCDH7_uc011bxx.1_Frame_Shift_Del_p.T277fs	p.T277fs	NM_002589	NP_002580	O60245	PCDH7_HUMAN			1	1838	+			277			Cadherin 2.|Extracellular (Potential).		O60246|O60247|Q4W5C4	Frame_Shift_Del	DEL	ENST00000361762.2	37	c.830delC	CCDS33971.1																																																																																					0.692	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		2	6	2	6	---	---	---	---
CNOT4	4850	broad.mit.edu	37	7	135048672	135048674	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr7:135048672_135048674delTGT	ENST00000451834.1	-	11	2046_2048	c.1763_1765delACA	c.(1762-1767)aacact>act	p.N588del	CNOT4_ENST00000541284.1_In_Frame_Del_p.N591del|CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000473470.1_5'UTR			O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	0					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GTGGTGGCAGTGTTGGACGTTGG	0.552																																					Ovarian(51;766 1130 5502 35047 50875)	uc011kpy.1																			0					0						c.(1771-1776)AACACT>ACT		CCR4-NOT transcription complex, subunit 4																																				SO:0001651	inframe_deletion	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135048672_135048674delTGT	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000451834.1:c.1763_1765delACA	7.37:g.135048672_135048674delTGT	ENSP00000388491:p.Asn588del					CNOT4_uc003vss.2_Intron|CNOT4_uc011kpz.1_In_Frame_Del_p.N588del|CNOT4_uc003vst.2_Intron	p.N591del	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN			10	1864_1866	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	In_Frame_Del	DEL	ENST00000451834.1	37	c.1772_1774delACA	CCDS55167.1																																																																																					0.552	CNOT4-003	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340670.1	NM_013316		225	118	225	118	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578469	7578469	+	Frame_Shift_Del	DEL	C	C	-			TCGA-60-2708-01A-01D-1522-08	TCGA-60-2708-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a371189b-5808-4408-824e-8dacec925cc5	8932f808-9727-47e3-b7d5-d19f0e577fe9	g.chr17:7578469delC	ENST00000269305.4	-	5	650	c.461delG	c.(460-462)ggcfs	p.G154fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Del_p.G154fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.G154fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.G154fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.G154fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.G154fs	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	154	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in a sporadic cancer; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> I (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G154V(46)|p.0?(8)|p.G154D(6)|p.?(5)|p.P152fs*14(5)|p.G61V(3)|p.G22V(3)|p.G154I(3)|p.T155_R156insDSTPPPGT(3)|p.G154fs*14(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.T23_R24insDSTPPPGT(1)|p.P151_V173del23(1)|p.D148_T155delDSTPPPGT(1)|p.G154A(1)|p.D148fs*23(1)|p.T62_R63insDSTPPPGT(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.G154fs*22(1)|p.G154_R156delGTR(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)	GACGCGGGTGCCGGGCGGGGG	0.607		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)	uc002gim.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		98	Substitution - Missense(62)|Deletion - Frameshift(14)|Whole gene deletion(8)|Insertion - In frame(5)|Unknown(5)|Deletion - In frame(4)	p.G154V(36)|p.G154G(12)|p.G154S(9)|p.0?(7)|p.G154D(6)|p.P152fs*14(4)|p.G154I(3)|p.G154fs*27(3)|p.G154fs*16(2)|p.G154fs*14(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.G154C(1)|p.Q144_G154del11(1)|p.D148_T155delDSTPPPGT(1)|p.G154A(1)|p.S149fs*72(1)|p.G154fs*22(1)|p.D148fs*23(1)|p.P153_G154insX(1)	lung(34)|stomach(8)|oesophagus(8)|skin(7)|liver(6)|ovary(6)|bone(5)|upper_aerodigestive_tract(4)|large_intestine(4)|breast(4)|central_nervous_system(2)|urinary_tract(2)|prostate(2)|pancreas(2)|thyroid(1)|soft_tissue(1)|adrenal_gland(1)|haematopoietic_and_lymphoid_tissue(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM951223	TP53	M		c.(460-462)GGCfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	51.0	51.0					17																	7578469		2203	4300	6503	SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578469delC	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.461delG	17.37:g.7578469delC	ENSP00000269305:p.Gly154fs	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_uc002gig.1_Frame_Shift_Del_p.G154fs|TP53_uc002gih.2_Frame_Shift_Del_p.G154fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.G22fs|TP53_uc010cng.1_Frame_Shift_Del_p.G22fs|TP53_uc002gii.1_Frame_Shift_Del_p.G22fs|TP53_uc010cnh.1_Frame_Shift_Del_p.G154fs|TP53_uc010cni.1_Frame_Shift_Del_p.G154fs|TP53_uc002gij.2_Frame_Shift_Del_p.G154fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.G61fs|TP53_uc002gio.2_Frame_Shift_Del_p.G22fs|TP53_uc010vug.1_Frame_Shift_Del_p.G115fs	p.G154fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	655	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	154		G -> D (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|G -> I (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in a sporadic cancer; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.461delG	CCDS11118.1																																																																																					0.607	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		42	48	42	48	---	---	---	---
