#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
ATAD3A	55210	broad.mit.edu	37	1	1454326	1454326	+	Missense_Mutation	SNP	G	G	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr1:1454326G>A	ENST00000378755.5	+	5	708	c.614G>A	c.(613-615)cGg>cAg	p.R205Q	ATAD3A_ENST00000536055.1_Missense_Mutation_p.R78Q|ATAD3A_ENST00000378756.3_Missense_Mutation_p.R157Q	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	205					cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.R205Q(1)		endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		GAGAATTTACGGAAGCAGGAG	0.572																																						uc001afz.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(613-615)CGG>CAG		ATPase family, AAA domain containing 3A							91.0	79.0	84.0					1																	1454326		2203	4296	6499	SO:0001583	missense	55210						ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr1:1454326G>A	AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"""ATPases / AAA-type"""	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.614G>A	1.37:g.1454326G>A	ENSP00000368030:p.Arg205Gln					ATAD3A_uc001aga.1_Missense_Mutation_p.R157Q|ATAD3A_uc001agb.1_Missense_Mutation_p.R78Q	p.R205Q	NM_018188	NP_060658	Q9NVI7	ATD3A_HUMAN		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)	5	708	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	205			Potential.		B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Missense_Mutation	SNP	ENST00000378755.5	37	c.614G>A	CCDS31.1	.	.	.	.	.	.	.	.	.	.	g	16.15	3.041233	0.55003	.	.	ENSG00000197785	ENST00000378756;ENST00000378755;ENST00000536055;ENST00000429957	T;T;T	0.17054	2.3;2.34;2.36	3.68	3.68	0.42216	ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523 (1);	0.054084	0.64402	D	0.000001	T	0.27313	0.0670	M	0.79011	2.435	0.54753	D	0.999981	P;P	0.43231	0.801;0.471	B;B	0.43658	0.426;0.311	T	0.18999	-1.0319	10	0.46703	T	0.11	.	14.8162	0.70036	0.0:0.0:1.0:0.0	.	157;205	D2K8Q1;Q9NVI7	.;ATD3A_HUMAN	Q	157;205;78;39	ENSP00000368031:R157Q;ENSP00000368030:R205Q;ENSP00000439290:R78Q	ENSP00000368030:R205Q	R	+	2	0	ATAD3A	1444189	1.000000	0.71417	0.933000	0.37362	0.753000	0.42808	8.267000	0.89874	1.776000	0.52262	0.499000	0.49734	CGG		PASS	0.572	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1	NM_018188		10	69	10	69	---	---	---	---
TRIM63	84676	broad.mit.edu	37	1	26386826	26386826	+	Missense_Mutation	SNP	C	C	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr1:26386826C>T	ENST00000374272.3	-	4	666	c.528G>A	c.(526-528)atG>atA	p.M176I	TRIM63_ENST00000483052.1_5'Flank	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	176	Interaction with TTN.				cellular response to dexamethasone stimulus (GO:0071549)|muscle contraction (GO:0006936)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression (GO:0010468)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to interleukin-1 (GO:0070555)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|titin binding (GO:0031432)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.M176I(1)		kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCGCCACCAGCATGGAGATAC	0.572																																						uc001bli.1																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(526-528)ATG>ATA		muscle specific ring finger protein 1							126.0	114.0	118.0					1																	26386826		2203	4300	6503	SO:0001583	missense	84676					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding	g.chr1:26386826C>T	AF353673	CCDS273.1	1p34-p33	2014-09-17	2012-02-23	2004-11-17	ENSG00000158022	ENSG00000158022		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	16007	protein-coding gene	gene with protein product	"""muscle-specific RING finger protein 1"", ""iris ring finger protein"", ""striated muscle RING zinc finger protein"""	606131	"""ring finger protein 28"", ""tripartite motif-containing 63"", ""tripartite motif containing 63"""	RNF28		11243782, 11283016	Standard	NM_032588		Approved	MURF-1, IRF, SMRZ	uc001bli.2	Q969Q1	OTTHUMG00000007510	ENST00000374272.3:c.528G>A	1.37:g.26386826C>T	ENSP00000363390:p.Met176Ile						p.M176I	NM_032588	NP_115977	Q969Q1	TRI63_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	4	664	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	176			Interaction with TTN.		B4DN95|Q5T2I1|Q96BD3|Q96KD9|Q9BYV4	Missense_Mutation	SNP	ENST00000374272.3	37	c.528G>A	CCDS273.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.034253	0.54896	.	.	ENSG00000158022	ENST00000374272	T	0.41065	1.01	5.32	5.32	0.75619	.	0.097095	0.85682	D	0.000000	T	0.37183	0.0994	L	0.45285	1.41	0.51012	D	0.999909	B	0.12630	0.006	B	0.09377	0.004	T	0.17198	-1.0377	10	0.14656	T	0.56	.	18.9711	0.92715	0.0:1.0:0.0:0.0	.	176	Q969Q1	TRI63_HUMAN	I	176	ENSP00000363390:M176I	ENSP00000363390:M176I	M	-	3	0	TRIM63	26259413	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.012000	0.57131	2.645000	0.89757	0.462000	0.41574	ATG		PASS	0.572	TRIM63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019750.1	NM_032588		7	35	7	35	---	---	---	---
PHACTR4	65979	broad.mit.edu	37	1	28800600	28800600	+	Missense_Mutation	SNP	C	C	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr1:28800600C>A	ENST00000373839.3	+	7	1619	c.1358C>A	c.(1357-1359)tCt>tAt	p.S453Y	PHACTR4_ENST00000373836.3_Missense_Mutation_p.S463Y|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	453					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.S463Y(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		GACAGCTTTTCTGAGGACAGC	0.478																																						uc001bpw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1357-1359)TCT>TAT		phosphatase and actin regulator 4 isoform 1							119.0	120.0	120.0					1																	28800600		1964	4157	6121	SO:0001583	missense	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28800600C>A	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1358C>A	1.37:g.28800600C>A	ENSP00000362945:p.Ser453Tyr					PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Missense_Mutation_p.S437Y|PHACTR4_uc001bpy.2_Missense_Mutation_p.S463Y	p.S453Y	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	7	1640	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	453					A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	37	c.1358C>A	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	C	0.077	-1.189935	0.01607	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.24908	1.83;1.83	5.75	1.33	0.21861	.	0.809841	0.11463	N	0.561514	T	0.24005	0.0581	L	0.50333	1.59	0.36521	D	0.870131	B;B	0.11235	0.004;0.002	B;B	0.14023	0.01;0.004	T	0.12604	-1.0541	10	0.49607	T	0.09	-0.6981	9.9229	0.41474	0.225:0.443:0.332:0.0	.	463;453	Q8IZ21-2;Q8IZ21	.;PHAR4_HUMAN	Y	453;463;452	ENSP00000362945:S453Y;ENSP00000362942:S463Y	ENSP00000362942:S463Y	S	+	2	0	PHACTR4	28673187	0.061000	0.20836	0.997000	0.53966	0.057000	0.15508	0.330000	0.19715	0.291000	0.22468	-0.176000	0.13171	TCT		PASS	0.478	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		16	94	16	94	---	---	---	---
PHC2	1912	broad.mit.edu	37	1	33836642	33836642	+	Silent	SNP	C	C	A	rs150111238	byFrequency	TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr1:33836642C>A	ENST00000257118.5	-	3	440	c.387G>T	c.(385-387)gcG>gcT	p.A129A	PHC2_ENST00000431992.1_Silent_p.A129A|PHC2_ENST00000419414.2_Silent_p.A129A|PHC2_ENST00000373416.1_5'UTR	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	129					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.A129A(1)		autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCGGGGCCTGCGCAGACACAT	0.567																																						uc001bxg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(385-387)GCG>GCT		polyhomeotic-like 2 isoform a							143.0	142.0	143.0					1																	33836642		2203	4300	6503	SO:0001819	synonymous_variant	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33836642C>A	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.387G>T	1.37:g.33836642C>A						PHC2_uc001bxh.1_Silent_p.A129A|PHC2_uc009vuh.1_Silent_p.A129A|PHC2_uc001bxi.1_Silent_p.A129A	p.A129A	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN			3	441	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	129					A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Silent	SNP	ENST00000257118.5	37	c.387G>T	CCDS378.1																																																																																				PASS	0.567	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		4	76	4	76	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34066583	34066583	+	Silent	SNP	C	C	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr1:34066583C>T	ENST00000373380.1	-	23	3577	c.3357G>A	c.(3355-3357)cgG>cgA	p.R1119R	CSMD2_ENST00000489419.1_5'UTR|CSMD2_ENST00000373381.4_Silent_p.R2246R|CSMD2_ENST00000373377.1_Silent_p.R345R|CSMD2_ENST00000373388.2_Silent_p.R345R			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2248	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R2248R(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGACGCCGAGCCGTGGTGCTG	0.577																																						uc001bxn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(6742-6744)CGG>CGA		CUB and Sushi multiple domains 2							212.0	185.0	194.0					1																	34066583		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34066583C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.3357G>A	1.37:g.34066583C>T						CSMD2_uc001bxm.1_Silent_p.R2246R|CSMD2_uc001bxo.1_Silent_p.R1119R	p.R2248R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			45	6773	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2248			Extracellular (Potential).|CUB 13.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37	c.6744G>A																																																																																					PASS	0.577	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		15	58	15	58	---	---	---	---
MFSD2A	84879	broad.mit.edu	37	1	40434012	40434012	+	Missense_Mutation	SNP	G	G	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr1:40434012G>T	ENST00000372809.5	+	12	1397	c.1254G>T	c.(1252-1254)atG>atT	p.M418I	MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000420632.2_Missense_Mutation_p.M249I|MFSD2A_ENST00000372811.5_Missense_Mutation_p.M405I	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	418					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)	p.M405I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GCAGGTCCATGCTGCCTGATG	0.527																																						uc001cev.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1252-1254)ATG>ATT		major facilitator superfamily domain containing							158.0	125.0	136.0					1																	40434012		2203	4300	6503	SO:0001583	missense	84879				transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr1:40434012G>T	AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"""major facilitator superfamily domain containing 2"""	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.1254G>T	1.37:g.40434012G>T	ENSP00000361895:p.Met418Ile					MFSD2A_uc010ojb.1_Missense_Mutation_p.M366I|MFSD2A_uc001ceu.2_Missense_Mutation_p.M405I|MFSD2A_uc010ojc.1_Missense_Mutation_p.M249I|MFSD2A_uc009vvy.2_RNA|MFSD2A_uc001cex.2_Missense_Mutation_p.M69I	p.M418I	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN			12	1435	+			418					A8K675|Q6UWU5|Q96F59|Q9BRC8	Missense_Mutation	SNP	ENST00000372809.5	37	c.1254G>T	CCDS44118.1	.	.	.	.	.	.	.	.	.	.	G	34	5.307245	0.95629	.	.	ENSG00000168389	ENST00000372811;ENST00000420632;ENST00000372809	D;D;D	0.89415	-2.51;-2.51;-2.51	6.17	6.17	0.99709	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.95468	0.8528	M	0.86740	2.835	0.80722	D	1	D;D;D	0.89917	0.999;0.994;1.0	D;D;D	0.91635	0.996;0.984;0.999	D	0.94621	0.7813	10	0.51188	T	0.08	-34.8141	19.8676	0.96824	0.0:0.0:1.0:0.0	.	366;418;405	B4DNN7;Q8NA29;Q8NA29-2	.;MFS2A_HUMAN;.	I	405;249;418	ENSP00000361898:M405I;ENSP00000391261:M249I;ENSP00000361895:M418I	ENSP00000361895:M418I	M	+	3	0	MFSD2A	40206599	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	ATG		PASS	0.527	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1	NM_032793		11	21	11	21	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70446129	70446129	+	Missense_Mutation	SNP	T	T	C			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr1:70446129T>C	ENST00000035383.5	+	7	695	c.665T>C	c.(664-666)tTa>tCa	p.L222S	LRRC7_ENST00000310961.5_Missense_Mutation_p.L227S|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	222						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.L222S(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						TTACAAGTGTTACCTGGGGTA	0.343																																						uc001dep.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(664-666)TTA>TCA		leucine rich repeat containing 7							182.0	185.0	184.0					1																	70446129		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70446129T>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.665T>C	1.37:g.70446129T>C	ENSP00000035383:p.Leu222Ser					LRRC7_uc009wbg.2_5'UTR	p.L222S	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			7	695	+			222			LRR 9.		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.665T>C	CCDS645.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.867523	0.72065	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.65364	-0.15;-0.15	4.93	4.93	0.64822	.	0.071906	0.56097	D	0.000023	T	0.76814	0.4040	H	0.97186	3.955	0.80722	D	1	P	0.52692	0.955	P	0.52793	0.709	D	0.84814	0.0792	10	0.87932	D	0	.	12.6455	0.56731	0.0:0.0:0.0:1.0	.	222	Q96NW7	LRRC7_HUMAN	S	227;222;45	ENSP00000309245:L227S;ENSP00000035383:L222S	ENSP00000035383:L222S	L	+	2	0	LRRC7	70218717	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	7.441000	0.80485	1.973000	0.57446	0.528000	0.53228	TTA		PASS	0.343	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		12	69	12	69	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75038518	75038518	+	Missense_Mutation	SNP	A	A	G			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr1:75038518A>G	ENST00000326665.5	-	14	3094	c.2876T>C	c.(2875-2877)aTg>aCg	p.M959T	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		959	Glu-rich.							p.M959T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGTGTCCTCCATGGGTCCTGT	0.527																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(2875-2877)ATG>ACG		hypothetical protein LOC127254							149.0	142.0	144.0					1																	75038518		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038518A>G																												ENST00000326665.5:c.2876T>C	1.37:g.75038518A>G	ENSP00000322609:p.Met959Thr						p.M959T	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	3095	-			959			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2876T>C	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	A	0.033	-1.321736	0.01320	.	.	ENSG00000178965	ENST00000326665	T	0.12255	2.7	4.94	-4.59	0.03400	.	.	.	.	.	T	0.01189	0.0039	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47995	-0.9073	9	0.13853	T	0.58	0.0752	0.0392	0.00008	0.2711:0.198:0.2209:0.31	.	959	Q5RHP9	CA173_HUMAN	T	959	ENSP00000322609:M959T	ENSP00000322609:M959T	M	-	2	0	C1orf173	74811106	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.486000	0.00978	-0.396000	0.07703	-0.818000	0.03119	ATG		PASS	0.527	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			9	40	9	40	---	---	---	---
SLC44A5	204962	broad.mit.edu	37	1	75693501	75693501	+	Missense_Mutation	SNP	G	G	T	rs149696907	byFrequency	TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr1:75693501G>T	ENST00000370855.5	-	13	1008	c.895C>A	c.(895-897)Cgc>Agc	p.R299S	SLC44A5_ENST00000370859.3_Missense_Mutation_p.R299S|SLC44A5_ENST00000535611.1_Missense_Mutation_p.R169S	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	299					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R299S(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GAACTTGGGCGTTCCTGAAGA	0.338																																						uc001dgu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(895-897)CGC>AGC		solute carrier family 44, member 5 isoform A							116.0	111.0	113.0					1																	75693501		2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75693501G>T	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.895C>A	1.37:g.75693501G>T	ENSP00000359892:p.Arg299Ser					SLC44A5_uc001dgt.2_Missense_Mutation_p.R299S|SLC44A5_uc001dgs.2_Missense_Mutation_p.R257S|SLC44A5_uc001dgr.2_Missense_Mutation_p.R257S|SLC44A5_uc010oqz.1_Missense_Mutation_p.R338S|SLC44A5_uc010ora.1_Missense_Mutation_p.R293S|SLC44A5_uc010orb.1_Missense_Mutation_p.R169S	p.R299S	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN			13	1039	-			299			Extracellular (Potential).		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.895C>A	CCDS667.1	.	.	.	.	.	.	.	.	.	.	G	5.437	0.265748	0.10294	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.13089	3.02;3.02;2.62	5.94	-2.99	0.05497	.	2.473770	0.01297	N	0.010187	T	0.02688	0.0081	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0	B;B;B;B;B	0.12156	0.001;0.003;0.004;0.004;0.007	T	0.40421	-0.9564	10	0.07644	T	0.81	19.7301	13.7354	0.62815	0.0:0.1293:0.1078:0.7628	.	293;338;299;299;338	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	S	299;338;299;169;292	ENSP00000359896:R299S;ENSP00000359892:R299S;ENSP00000443090:R169S	ENSP00000359892:R299S	R	-	1	0	SLC44A5	75466089	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.078000	0.11375	-0.771000	0.04608	-0.188000	0.12872	CGC		PASS	0.338	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		5	29	5	29	---	---	---	---
EPHX4	253152	broad.mit.edu	37	1	92528792	92528792	+	Silent	SNP	G	G	C			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr1:92528792G>C	ENST00000370383.4	+	7	1136	c.1038G>C	c.(1036-1038)gtG>gtC	p.V346V		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	346						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.V346V(1)		central_nervous_system(1)|large_intestine(3)|lung(8)	12						CTGACATAGTGAACAAATTGA	0.318																																					GBM(140;473 1857 5172 22066 49719)	uc001don.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1036-1038)GTG>GTC		abhydrolase domain containing 7							52.0	55.0	54.0					1																	92528792		2203	4300	6503	SO:0001819	synonymous_variant	253152					integral to membrane	hydrolase activity	g.chr1:92528792G>C	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.1038G>C	1.37:g.92528792G>C							p.V346V	NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN			7	1142	+			346					Q8NCC6	Silent	SNP	ENST00000370383.4	37	c.1038G>C	CCDS736.1																																																																																				PASS	0.318	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		6	45	6	45	---	---	---	---
CHIA	27159	broad.mit.edu	37	1	111862916	111862916	+	Missense_Mutation	SNP	C	C	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr1:111862916C>A	ENST00000369740.1	+	12	1362	c.1259C>A	c.(1258-1260)tCt>tAt	p.S420Y	RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000451398.2_Missense_Mutation_p.S259Y|CHIA_ENST00000353665.6_Missense_Mutation_p.S259Y|CHIA_ENST00000483391.1_Missense_Mutation_p.S259Y|CHIA_ENST00000430615.1_Missense_Mutation_p.S312Y|CHIA_ENST00000343320.6_Missense_Mutation_p.S420Y	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	420	Poly-Ser.				apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)	p.S420Y(1)|p.S312Y(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		AGTAGCAGCTCTGGAGGCAGC	0.577																																						uc001eas.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1258-1260)TCT>TAT		acidic chitinase isoform c							62.0	58.0	59.0					1																	111862916		2203	4300	6503	SO:0001583	missense	27159				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	g.chr1:111862916C>A	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.1259C>A	1.37:g.111862916C>A	ENSP00000358755:p.Ser420Tyr					CHIA_uc001ear.2_Missense_Mutation_p.S312Y|CHIA_uc001eaq.2_Missense_Mutation_p.S312Y|CHIA_uc009wgc.2_Missense_Mutation_p.S312Y|CHIA_uc001eat.2_Missense_Mutation_p.S259Y|CHIA_uc001eav.2_Missense_Mutation_p.S259Y|CHIA_uc001eau.2_Missense_Mutation_p.S259Y|CHIA_uc009wgd.2_Missense_Mutation_p.S259Y	p.S420Y	NM_201653	NP_970615	Q9BZP6	CHIA_HUMAN		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)	12	1362	+		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)	420			Poly-Ser.		Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	c.1259C>A	CCDS41368.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.708500	0.30322	.	.	ENSG00000134216	ENST00000422815;ENST00000483391;ENST00000369740;ENST00000343320;ENST00000451398;ENST00000353665;ENST00000489524;ENST00000430615	T;T;T;T;T;T;T;T	0.05855	4.1;3.75;3.38;3.38;3.75;3.75;3.65;3.94	4.92	1.78	0.24846	.	2.077570	0.02950	U	0.141585	T	0.03053	0.0090	L	0.36672	1.1	0.09310	N	0.999998	P	0.47910	0.902	P	0.47645	0.553	T	0.33111	-0.9881	10	0.59425	D	0.04	12.4996	4.2102	0.10507	0.1457:0.5552:0.2095:0.0895	.	420	Q9BZP6	CHIA_HUMAN	Y	364;259;420;420;259;259;259;312	ENSP00000387671:S364Y;ENSP00000436946:S259Y;ENSP00000358755:S420Y;ENSP00000341828:S420Y;ENSP00000390476:S259Y;ENSP00000338970:S259Y;ENSP00000433309:S259Y;ENSP00000391132:S312Y	ENSP00000341828:S420Y	S	+	2	0	CHIA	111664439	0.008000	0.16893	0.001000	0.08648	0.420000	0.31355	0.091000	0.15046	0.165000	0.19558	0.655000	0.94253	TCT		PASS	0.577	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			7	34	7	34	---	---	---	---
CASQ1	844	broad.mit.edu	37	1	160165289	160165289	+	Missense_Mutation	SNP	C	C	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr1:160165289C>A	ENST00000368078.3	+	5	812	c.616C>A	c.(616-618)Ccc>Acc	p.P206T	CASQ1_ENST00000467691.1_5'Flank|CASQ1_ENST00000368079.3_Missense_Mutation_p.P200T			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	206					endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)	p.P200T(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGAGTTTCATCCCTACATCCC	0.562																																						uc010pja.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(616-618)CCC>ACC		calsequestrin 1							161.0	150.0	154.0					1																	160165289		2203	4300	6503	SO:0001583	missense	844					mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding	g.chr1:160165289C>A	S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"""Protein disulfide isomerases"""	1512	protein-coding gene	gene with protein product	"""calsequestrin 1, fast-twitch, skeletal muscle"", ""calmitine"""	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.616C>A	1.37:g.160165289C>A	ENSP00000357057:p.Pro206Thr						p.P206T	NM_001231	NP_001222	P31415	CASQ1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		5	873	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		206					B1AKZ2|B2R863|Q8TBW7	Missense_Mutation	SNP	ENST00000368078.3	37	c.616C>A	CCDS1198.2	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501978	0.85176	.	.	ENSG00000143318	ENST00000368079;ENST00000368078;ENST00000441151	T;T	0.80824	-1.42;-1.42	4.57	4.57	0.56435	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	D	0.89171	0.6639	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90086	0.4174	10	0.59425	D	0.04	.	16.6459	0.85177	0.0:1.0:0.0:0.0	.	206	P31415	CASQ1_HUMAN	T	200;206;121	ENSP00000357058:P200T;ENSP00000357057:P206T	ENSP00000357057:P206T	P	+	1	0	CASQ1	158431913	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	7.019000	0.76412	2.533000	0.85409	0.557000	0.71058	CCC		PASS	0.562	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1	NM_001231		21	22	21	22	---	---	---	---
TOMM40L	84134	broad.mit.edu	37	1	161197498	161197498	+	Missense_Mutation	SNP	G	G	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr1:161197498G>A	ENST00000367988.3	+	5	618	c.349G>A	c.(349-351)Gag>Aag	p.E117K	TOMM40L_ENST00000545897.1_Intron|TOMM40L_ENST00000367987.1_Missense_Mutation_p.E117K|MIR5187_ENST00000583479.1_RNA|TOMM40L_ENST00000474486.1_Intron|NR1I3_ENST00000479324.1_5'Flank	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	117					ion transport (GO:0006811)|protein transport (GO:0015031)	mitochondrial outer membrane (GO:0005741)|pore complex (GO:0046930)|protein complex (GO:0043234)	porin activity (GO:0015288)	p.E117K(1)		large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCTCTTGGCAGAGCGGCTCCG	0.587											OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001fzd.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(349-351)GAG>AAG		translocase of outer mitochondrial membrane 40							60.0	53.0	56.0					1																	161197498		2203	4300	6503	SO:0001583	missense	84134				protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity	g.chr1:161197498G>A		CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882			25756	protein-coding gene	gene with protein product			"""translocase of outer mitochondrial membrane 40 homolog-like (yeast)"""				Standard	NM_032174		Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.349G>A	1.37:g.161197498G>A	ENSP00000356967:p.Glu117Lys		OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1814	TOMM40L_uc010pkk.1_RNA|TOMM40L_uc010pkl.1_Intron|TOMM40L_uc009wue.2_Intron|TOMM40L_uc009wuf.1_RNA|TOMM40L_uc001fze.2_Missense_Mutation_p.E117K	p.E117K	NM_032174	NP_115550	Q969M1	TM40L_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		5	578	+	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		117					B7Z4U0|D3DVG9	Missense_Mutation	SNP	ENST00000367988.3	37	c.349G>A	CCDS1227.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532931	0.45073	.	.	ENSG00000158882	ENST00000367988;ENST00000542686;ENST00000367987	T;T	0.39056	1.1;1.1	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.15522	0.0374	L	0.32530	0.975	0.39604	D	0.969782	B	0.14012	0.009	B	0.17098	0.017	T	0.06250	-1.0837	9	0.02654	T	1	-12.4888	17.119	0.86697	0.0:0.0:1.0:0.0	.	117	Q969M1	TM40L_HUMAN	K	117;64;117	ENSP00000356967:E117K;ENSP00000356966:E117K	ENSP00000356966:E117K	E	+	1	0	TOMM40L	159464122	0.082000	0.21442	1.000000	0.80357	0.998000	0.95712	0.977000	0.29475	2.636000	0.89361	0.655000	0.94253	GAG		PASS	0.587	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083029.1	NM_032174		11	21	11	21	---	---	---	---
C1orf192	257177	broad.mit.edu	37	1	161336064	161336064	+	Missense_Mutation	SNP	A	A	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr1:161336064A>T	ENST00000367974.1	-	3	100	c.95T>A	c.(94-96)aTc>aAc	p.I32N	RP11-122G18.5_ENST00000437833.2_lincRNA	NM_001013625.2	NP_001013647.2	Q5VTH2	CA192_HUMAN	chromosome 1 open reading frame 192	32								p.I32N(1)		endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ATGAGAAGAGATGCTCTGGGG	0.463																																						uc001gal.2																			1	Substitution - Missense(1)		lung(1)		0						c.(94-96)ATC>AAC		hypothetical protein LOC257177							86.0	75.0	79.0					1																	161336064		2203	4300	6503	SO:0001583	missense	257177							g.chr1:161336064A>T		CCDS30921.1	1q23.3	2014-02-21			ENSG00000188931	ENSG00000188931			32325	protein-coding gene	gene with protein product							Standard	NM_001013625		Approved	Flattop, Fltp	uc001gal.4	Q5VTH2	OTTHUMG00000034462	ENST00000367974.1:c.95T>A	1.37:g.161336064A>T	ENSP00000356951:p.Ile32Asn						p.I32N	NM_001013625	NP_001013647	Q5VTH2	CA192_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	101	-	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		32						Missense_Mutation	SNP	ENST00000367974.1	37	c.95T>A	CCDS30921.1	.	.	.	.	.	.	.	.	.	.	A	17.81	3.479953	0.63849	.	.	ENSG00000188931	ENST00000367974	.	.	.	5.65	3.38	0.38709	.	0.375002	0.21505	N	0.073462	T	0.38719	0.1051	L	0.51422	1.61	0.31041	N	0.716342	D	0.64830	0.994	P	0.56751	0.805	T	0.34576	-0.9823	8	0.44086	T	0.13	-11.8308	6.3086	0.21153	0.7737:0.0:0.2263:0.0	.	32	Q5VTH2	CA192_HUMAN	N	32	.	ENSP00000356951:I32N	I	-	2	0	C1orf192	159602688	0.054000	0.20591	0.123000	0.21794	0.321000	0.28281	0.856000	0.27818	2.150000	0.67090	0.383000	0.25322	ATC		PASS	0.463	C1orf192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083309.1	NM_001013625		17	20	17	20	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175325554	175325554	+	Missense_Mutation	SNP	G	G	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr1:175325554G>A	ENST00000367674.2	-	16	3727	c.3019C>T	c.(3019-3021)Cgg>Tgg	p.R1007W	TNR_ENST00000263525.2_Missense_Mutation_p.R1007W			Q92752	TENR_HUMAN	tenascin R	1007	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.R1007W(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCAACAAGCCGAAATTCCTCA	0.473																																						uc001gkp.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(3019-3021)CGG>TGG		tenascin R precursor							189.0	152.0	165.0					1																	175325554		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175325554G>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3019C>T	1.37:g.175325554G>A	ENSP00000356646:p.Arg1007Trp					TNR_uc009wwu.1_Missense_Mutation_p.R1007W	p.R1007W	NM_003285	NP_003276	Q92752	TENR_HUMAN			14	3100	-	Renal(580;0.146)		1007			Fibronectin type-III 8.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.3019C>T	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542069	0.85917	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.57752	0.38;0.38	5.67	5.67	0.87782	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.063421	0.64402	D	0.000004	T	0.54464	0.1860	L	0.29908	0.895	0.40611	D	0.981677	P	0.45902	0.868	P	0.49301	0.606	T	0.58148	-0.7687	10	0.66056	D	0.02	.	19.3618	0.94442	0.0:0.0:1.0:0.0	.	1007	Q92752	TENR_HUMAN	W	1007;1007;917	ENSP00000356646:R1007W;ENSP00000263525:R1007W	ENSP00000263525:R1007W	R	-	1	2	TNR	173592177	1.000000	0.71417	0.998000	0.56505	0.533000	0.34776	7.387000	0.79785	2.681000	0.91329	0.655000	0.94253	CGG		PASS	0.473	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		24	40	24	40	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215933143	215933143	+	Missense_Mutation	SNP	G	G	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr1:215933143G>T	ENST00000307340.3	-	57	11476	c.11090C>A	c.(11089-11091)aCa>aAa	p.T3697K	USH2A_ENST00000366943.2_Missense_Mutation_p.T3697K	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3697	Fibronectin type-III 22. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.T3697K(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAATTCCACTGTTGTAGAATT	0.403										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(11089-11091)ACA>AAA		usherin isoform B							95.0	91.0	92.0					1																	215933143		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215933143G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11090C>A	1.37:g.215933143G>T	ENSP00000305941:p.Thr3697Lys	HNSCC(13;0.011)					p.T3697K	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	57	11477	-			3697			Fibronectin type-III 22.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.11090C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.134024	0.37630	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54866	0.55;0.55	5.24	4.32	0.51571	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.328450	0.21940	N	0.066892	T	0.35941	0.0949	L	0.43701	1.375	0.09310	N	1	P	0.38922	0.651	B	0.30943	0.122	T	0.38090	-0.9677	10	0.49607	T	0.09	.	4.3334	0.11075	0.24:0.0:0.5852:0.1748	.	3697	O75445	USH2A_HUMAN	K	3697	ENSP00000305941:T3697K;ENSP00000355910:T3697K	ENSP00000305941:T3697K	T	-	2	0	USH2A	213999766	0.830000	0.29337	0.045000	0.18777	0.929000	0.56500	2.022000	0.41030	1.346000	0.45694	0.563000	0.77884	ACA		PASS	0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		26	62	26	62	---	---	---	---
TAF1A	9015	broad.mit.edu	37	1	222732082	222732082	+	Missense_Mutation	SNP	C	C	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr1:222732082C>A	ENST00000352967.4	-	11	1461	c.1273G>T	c.(1273-1275)Gat>Tat	p.D425Y	TAF1A_ENST00000366890.1_Missense_Mutation_p.D311Y|TAF1A_ENST00000350027.4_Missense_Mutation_p.D425Y|TAF1A_ENST00000391882.1_Missense_Mutation_p.D311Y	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	425					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)	p.D425Y(1)		kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		ATTTGGTGATCTTGCTTTAAA	0.269																																						uc009xdz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1273-1275)GAT>TAT		TBP-associated factor 1A isoform 2							73.0	76.0	75.0					1																	222732082		2201	4288	6489	SO:0001583	missense	9015				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding	g.chr1:222732082C>A	L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"""			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.1273G>T	1.37:g.222732082C>A	ENSP00000327072:p.Asp425Tyr					TAF1A_uc009xdy.1_Missense_Mutation_p.D116Y|TAF1A_uc001hni.1_Missense_Mutation_p.D311Y|TAF1A_uc001hnj.2_Missense_Mutation_p.D425Y|TAF1A_uc001hnk.2_Missense_Mutation_p.D311Y	p.D425Y	NM_139352	NP_647603	Q15573	TAF1A_HUMAN		GBM - Glioblastoma multiforme(131;0.0186)	11	1462	-			425					B2RDZ8|D3DTB7|Q9NWA1	Missense_Mutation	SNP	ENST00000352967.4	37	c.1273G>T	CCDS1531.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968624	0.74131	.	.	ENSG00000143498	ENST00000366890;ENST00000350027;ENST00000352967;ENST00000391882	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.34	5.34	0.76211	.	0.321156	0.33875	N	0.004470	T	0.62624	0.2443	M	0.67953	2.075	0.80722	D	1	D	0.63880	0.993	P	0.58873	0.847	T	0.64249	-0.6452	10	0.56958	D	0.05	-9.6238	14.8934	0.70625	0.0:1.0:0.0:0.0	.	425	Q15573	TAF1A_HUMAN	Y	311;425;425;311	ENSP00000355856:D311Y;ENSP00000339976:D425Y;ENSP00000327072:D425Y;ENSP00000375754:D311Y	ENSP00000339976:D425Y	D	-	1	0	TAF1A	220798705	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.706000	0.54830	2.662000	0.90505	0.655000	0.94253	GAT		PASS	0.269	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091493.2	NM_005681		15	52	15	52	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237801776	237801776	+	Missense_Mutation	SNP	T	T	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr1:237801776T>A	ENST00000366574.2	+	45	7229	c.6912T>A	c.(6910-6912)ttT>ttA	p.F2304L	RYR2_ENST00000360064.6_Missense_Mutation_p.F2302L|RYR2_ENST00000542537.1_Missense_Mutation_p.F2288L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2304	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.F2302L(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)			TTCTTAGATTTGCTGTCTTCT	0.403																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(6910-6912)TTT>TTA		cardiac muscle ryanodine receptor							291.0	286.0	288.0					1																	237801776		1861	4100	5961	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.chr1:237801776T>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.6912T>A	1.37:g.237801776T>A	ENSP00000355533:p.Phe2304Leu						p.F2304L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		45	7032	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2304			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.6912T>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.114234	0.77210	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95307	-3.67;-3.67;-3.67	5.31	0.371	0.16168	Intracellular calcium-release channel (1);	0.000000	0.64402	D	0.000003	D	0.95680	0.8595	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.93849	0.7143	10	0.72032	D	0.01	-13.0661	9.2502	0.37551	0.0:0.2798:0.0:0.7202	.	2304	Q92736	RYR2_HUMAN	L	2304;2302;2288	ENSP00000355533:F2304L;ENSP00000353174:F2302L;ENSP00000443798:F2288L	ENSP00000353174:F2302L	F	+	3	2	RYR2	235868399	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.844000	0.39269	0.082000	0.17018	0.459000	0.35465	TTT		PASS	0.403	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		30	184	30	184	---	---	---	---
OR2T34	127068	broad.mit.edu	37	1	248737347	248737347	+	Missense_Mutation	SNP	C	C	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr1:248737347C>T	ENST00000328782.2	-	1	733	c.712G>A	c.(712-714)Ggc>Agc	p.G238S		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G238S(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCCTGCGGCCGGCGGCAGAA	0.562																																						uc001iep.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(712-714)GGC>AGC		olfactory receptor, family 2, subfamily T,							112.0	126.0	121.0					1																	248737347		2176	4300	6476	SO:0001583	missense	127068				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248737347C>T	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.712G>A	1.37:g.248737347C>T	ENSP00000330904:p.Gly238Ser						p.G238S	NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	712	-	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)		238			Cytoplasmic (Potential).		B2RNJ8|Q6IEY5|Q96R31	Missense_Mutation	SNP	ENST00000328782.2	37	c.712G>A	CCDS31120.1	.	.	.	.	.	.	.	.	.	.	.	9.217	1.032315	0.19590	.	.	ENSG00000183310	ENST00000328782	T	0.00372	7.73	2.37	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00608	0.0020	M	0.81614	2.55	0.09310	N	1	P	0.45672	0.864	P	0.48738	0.588	T	0.45934	-0.9227	9	0.48119	T	0.1	.	11.6319	0.51181	0.0:1.0:0.0:0.0	.	238	Q8NGX1	O2T34_HUMAN	S	238	ENSP00000330904:G238S	ENSP00000330904:G238S	G	-	1	0	OR2T34	246803970	0.000000	0.05858	0.068000	0.19968	0.117000	0.20001	-0.359000	0.07632	1.169000	0.42739	0.123000	0.15791	GGC		PASS	0.562	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		53	85	53	85	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1926881	1926881	+	Missense_Mutation	SNP	C	C	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr2:1926881C>A	ENST00000399161.2	-	10	1407	c.660G>T	c.(658-660)agG>agT	p.R220S	MYT1L_ENST00000428368.2_Missense_Mutation_p.R220S	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	220					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R220S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTGACTCAGTCCTGGCCCGGT	0.433																																						uc002qxe.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(1)	6						c.(658-660)AGG>AGT		myelin transcription factor 1-like							134.0	125.0	128.0					2																	1926881		1951	4145	6096	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926881C>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.660G>T	2.37:g.1926881C>A	ENSP00000382114:p.Arg220Ser					MYT1L_uc002qxd.2_Missense_Mutation_p.R220S|MYT1L_uc010ewl.1_RNA	p.R220S	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	1487	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	220					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.660G>T		.	.	.	.	.	.	.	.	.	.	C	15.60	2.881021	0.51801	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.43294	0.95;0.95	5.93	4.13	0.48395	.	0.101254	0.64402	D	0.000005	T	0.30885	0.0779	L	0.27053	0.805	0.53005	D	0.99996	P;P	0.42827	0.791;0.774	B;B	0.39419	0.138;0.299	T	0.07252	-1.0782	10	0.56958	D	0.05	-42.8953	12.0639	0.53578	0.0:0.8133:0.1215:0.0652	.	220;220	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	S	220;168;220	ENSP00000382114:R220S;ENSP00000396103:R220S	ENSP00000295067:R168S	R	-	3	2	MYT1L	1905888	1.000000	0.71417	0.999000	0.59377	0.653000	0.38743	3.312000	0.51927	0.827000	0.34685	0.655000	0.94253	AGG		PASS	0.433	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		15	41	15	41	---	---	---	---
ROCK2	9475	broad.mit.edu	37	2	11341532	11341532	+	Missense_Mutation	SNP	T	T	C			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr2:11341532T>C	ENST00000315872.6	-	22	3075	c.2627A>G	c.(2626-2628)tAt>tGt	p.Y876C	ROCK2_ENST00000401753.1_Missense_Mutation_p.Y633C	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	876					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)	p.Y876C(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTGTGTTTTATAAAGGGTCTA	0.333																																						uc002rbd.1																			2	Substitution - Missense(2)		lung(2)	stomach(2)|skin(2)	4						c.(2626-2628)TAT>TGT		Rho-associated, coiled-coil containing protein							147.0	128.0	134.0					2																	11341532		1835	4079	5914	SO:0001583	missense	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11341532T>C	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.2627A>G	2.37:g.11341532T>C	ENSP00000317985:p.Tyr876Cys						p.Y876C	NM_004850	NP_004841	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	22	3076	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		876			Potential.		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.2627A>G	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.178148	0.78564	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	T;T	0.65364	-0.15;0.93	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.80127	0.4566	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82368	-0.0492	10	0.56958	D	0.05	.	15.643	0.77020	0.0:0.0:0.0:1.0	.	876	O75116	ROCK2_HUMAN	C	876;633;234	ENSP00000317985:Y876C;ENSP00000385509:Y633C	ENSP00000317985:Y876C	Y	-	2	0	ROCK2	11258983	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.036000	0.88901	2.092000	0.63282	0.402000	0.26972	TAT		PASS	0.333	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			10	23	10	23	---	---	---	---
APOB	338	broad.mit.edu	37	2	21236225	21236225	+	Silent	SNP	G	G	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr2:21236225G>T	ENST00000233242.1	-	25	4150	c.4023C>A	c.(4021-4023)acC>acA	p.T1341T		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1341					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.T1341T(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTGGGAATGGTAAAAGTAG	0.488																																						uc002red.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(4021-4023)ACC>ACA		apolipoprotein B precursor	Atorvastatin(DB01076)						157.0	150.0	152.0					2																	21236225		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21236225G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4023C>A	2.37:g.21236225G>T							p.T1341T	NM_000384	NP_000375	P04114	APOB_HUMAN			25	4151	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1341					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.4023C>A	CCDS1703.1																																																																																				PASS	0.488	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			27	68	27	68	---	---	---	---
SOS1	6654	broad.mit.edu	37	2	39285891	39285891	+	Missense_Mutation	SNP	C	C	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr2:39285891C>T	ENST00000426016.1	-	4	354	c.268G>A	c.(268-270)Gcc>Acc	p.A90T	SOS1_ENST00000395038.2_Missense_Mutation_p.A90T|SOS1_ENST00000428721.2_Missense_Mutation_p.A33T|SOS1_ENST00000402219.2_Missense_Mutation_p.A90T			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	90					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A90T(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				GCTGATTGGGCATCAGCTATT	0.338									Noonan syndrome																													uc002rrk.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10						c.(268-270)GCC>ACC		son of sevenless homolog 1							78.0	81.0	80.0					2																	39285891		2203	4299	6502	SO:0001583	missense	6654	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39285891C>T	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.268G>A	2.37:g.39285891C>T	ENSP00000387784:p.Ala90Thr					SOS1_uc010ynr.1_RNA	p.A90T	NM_005633	NP_005624	Q07889	SOS1_HUMAN			3	309	-		all_hematologic(82;0.21)	90					A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.268G>A	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	C	36	5.796344	0.96952	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000395038;ENST00000263879;ENST00000428721;ENST00000451331	D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02	5.75	5.75	0.90469	Histone-fold (2);	0.000000	0.85682	D	0.000000	D	0.93762	0.8006	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94021	0.7292	10	0.72032	D	0.01	.	19.9598	0.97242	0.0:1.0:0.0:0.0	.	90	Q07889	SOS1_HUMAN	T	90;90;90;90;33;33	ENSP00000387784:A90T;ENSP00000384675:A90T;ENSP00000378479:A90T;ENSP00000399992:A33T;ENSP00000393899:A33T	ENSP00000263879:A90T	A	-	1	0	SOS1	39139395	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.711000	0.84669	2.716000	0.92895	0.655000	0.94253	GCC		PASS	0.338	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		24	61	24	61	---	---	---	---
CLHC1	130162	broad.mit.edu	37	2	55436584	55436584	+	Missense_Mutation	SNP	A	A	C			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr2:55436584A>C	ENST00000401408.1	-	7	1115	c.770T>G	c.(769-771)tTt>tGt	p.F257C	CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000407122.1_Missense_Mutation_p.F257C|CLHC1_ENST00000406076.1_Missense_Mutation_p.F135C|CLHC1_ENST00000406437.2_Intron	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	257								p.F257C(2)									AAAGTCTTGAAATGGGCTGCT	0.313																																						uc002ryi.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(769-771)TTT>TGT		hypothetical protein LOC130162 isoform 1							87.0	94.0	92.0					2																	55436584		2203	4299	6502	SO:0001583	missense	130162						binding	g.chr2:55436584A>C		CCDS33201.1, CCDS46287.1	2p16.1	2012-08-03	2012-08-03	2012-08-03	ENSG00000162994	ENSG00000162994			26453	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 63"""	C2orf63			Standard	NM_152385		Approved	FLJ31438	uc002ryi.2	Q8NHS4	OTTHUMG00000151918	ENST00000401408.1:c.770T>G	2.37:g.55436584A>C	ENSP00000384869:p.Phe257Cys					C2orf63_uc002ryh.2_Intron|C2orf63_uc002ryj.2_Missense_Mutation_p.F135C	p.F257C	NM_152385	NP_689598	Q8NHS4	CB063_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)		7	1116	-			257					B2RDV1|Q53R93|Q8N403	Missense_Mutation	SNP	ENST00000401408.1	37	c.770T>G	CCDS33201.1	.	.	.	.	.	.	.	.	.	.	A	14.36	2.513022	0.44660	.	.	ENSG00000162994	ENST00000407122;ENST00000401408;ENST00000406076	T;T;T	0.20200	2.09;2.09;2.09	5.48	5.48	0.80851	.	0.218084	0.35151	N	0.003418	T	0.38558	0.1045	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	P	0.59703	0.862	T	0.12656	-1.0539	10	0.42905	T	0.14	-14.4341	11.9718	0.53067	1.0:0.0:0.0:0.0	.	257	Q8NHS4	CB063_HUMAN	C	257;257;135	ENSP00000385778:F257C;ENSP00000384869:F257C;ENSP00000385512:F135C	ENSP00000384869:F257C	F	-	2	0	C2orf63	55290088	1.000000	0.71417	0.706000	0.30403	0.155000	0.21991	4.907000	0.63300	2.076000	0.62316	0.533000	0.62120	TTT		PASS	0.313	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324412.4	NM_152385		28	76	28	76	---	---	---	---
UGP2	7360	broad.mit.edu	37	2	64112824	64112824	+	Missense_Mutation	SNP	T	T	C			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr2:64112824T>C	ENST00000337130.5	+	6	1153	c.677T>C	c.(676-678)aTt>aCt	p.I226T	UGP2_ENST00000445915.2_Missense_Mutation_p.I235T|UGP2_ENST00000467648.2_Missense_Mutation_p.I215T|ACA59_ENST00000515966.1_RNA|UGP2_ENST00000487469.1_3'UTR|UGP2_ENST00000394417.2_Missense_Mutation_p.I215T	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	226					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)	p.I226T(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						CATGGTGATATTTACGCCAGT	0.408																																						uc002scm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(676-678)ATT>ACT		UDP-glucose pyrophosphorylase 2 isoform a							166.0	176.0	173.0					2																	64112824		2203	4300	6503	SO:0001583	missense	7360				glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity	g.chr2:64112824T>C		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.677T>C	2.37:g.64112824T>C	ENSP00000338703:p.Ile226Thr					UGP2_uc002scl.2_Missense_Mutation_p.I215T|UGP2_uc010ypx.1_Missense_Mutation_p.I235T	p.I226T	NM_006759	NP_006750	Q16851	UGPA_HUMAN			6	983	+			226					Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	ENST00000337130.5	37	c.677T>C	CCDS1875.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955075	0.73902	.	.	ENSG00000169764	ENST00000394417;ENST00000467648;ENST00000337130;ENST00000445915	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.27663	0.0680	L	0.59967	1.855	0.80722	D	1	B;B	0.24186	0.099;0.099	B;B	0.29353	0.101;0.101	T	0.03325	-1.1048	10	0.66056	D	0.02	-30.5805	16.1461	0.81569	0.0:0.0:0.0:1.0	.	235;226	E7EUC7;Q16851	.;UGPA_HUMAN	T	215;215;226;235	ENSP00000377939:I215T;ENSP00000420793:I215T;ENSP00000338703:I226T;ENSP00000411803:I235T	ENSP00000338703:I226T	I	+	2	0	UGP2	63966328	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.219000	0.72066	0.533000	0.62120	ATT		PASS	0.408	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	NM_006759		23	166	23	166	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71891467	71891467	+	Silent	SNP	C	C	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr2:71891467C>T	ENST00000258104.3	+	45	5233	c.4956C>T	c.(4954-4956)ctC>ctT	p.L1652L	DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409762.1_Silent_p.L1669L|DYSF_ENST00000409366.1_Silent_p.L1674L|DYSF_ENST00000409744.1_Silent_p.L1660L|DYSF_ENST00000394120.2_Silent_p.L1653L|DYSF_ENST00000409582.3_Silent_p.L1690L|DYSF_ENST00000413539.2_Silent_p.L1683L|DYSF_ENST00000409651.1_Silent_p.L1684L|DYSF_ENST00000410020.3_Silent_p.L1691L|DYSF_ENST00000429174.2_Silent_p.L1673L|DYSF_ENST00000410041.1_Silent_p.L1670L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1652	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.L1652L(1)|p.L1691L(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACTATGACCTCCTCTCCAAGG	0.562																																						uc002sie.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(4954-4956)CTC>CTT		dysferlin isoform 8							113.0	93.0	100.0					2																	71891467		2203	4300	6503	SO:0001819	synonymous_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71891467C>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4956C>T	2.37:g.71891467C>T						DYSF_uc010feg.2_Silent_p.L1683L|DYSF_uc010feh.2_Silent_p.L1659L|DYSF_uc002sig.3_Silent_p.L1638L|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.L1673L|DYSF_uc010fef.2_Silent_p.L1690L|DYSF_uc010fei.2_Silent_p.L1669L|DYSF_uc010fek.2_Silent_p.L1670L|DYSF_uc010fej.2_Silent_p.L1660L|DYSF_uc010fel.2_Silent_p.L1639L|DYSF_uc010feo.2_Silent_p.L1684L|DYSF_uc010fem.2_Silent_p.L1674L|DYSF_uc010fen.2_Silent_p.L1691L|DYSF_uc002sif.2_Silent_p.L1653L|DYSF_uc010yqy.1_Silent_p.L533L|DYSF_uc010yqz.1_Silent_p.L413L	p.L1652L	NM_003494	NP_003485	O75923	DYSF_HUMAN			45	5332	+			1652			Cytoplasmic (Potential).|C2 5.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.4956C>T	CCDS1918.1																																																																																				PASS	0.562	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		12	48	12	48	---	---	---	---
SMYD1	150572	broad.mit.edu	37	2	88367391	88367391	+	Missense_Mutation	SNP	T	T	G			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr2:88367391T>G	ENST00000419482.2	+	1	93	c.8T>G	c.(7-9)aTa>aGa	p.I3R	SMYD1_ENST00000444564.2_Missense_Mutation_p.I3R|SMYD1_ENST00000438570.1_Missense_Mutation_p.I3R	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	3					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.I3R(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GAGATGACAATAGGGAGAATG	0.512																																						uc002ssr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(7-9)ATA>AGA		SET and MYND domain containing 1							201.0	221.0	214.0					2																	88367391		2203	4300	6503	SO:0001583	missense	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88367391T>G	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.8T>G	2.37:g.88367391T>G	ENSP00000393453:p.Ile3Arg					SMYD1_uc002ssq.1_5'UTR	p.I3R	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN			1	10	+			3					A0AV30|A6NE13	Missense_Mutation	SNP	ENST00000419482.2	37	c.8T>G	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	T	13.08	2.130668	0.37630	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000438570	T;T	0.23754	1.89;1.89	5.85	5.85	0.93711	.	0.377410	0.30210	N	0.010145	T	0.12944	0.0314	N	0.08118	0	0.39965	D	0.974713	B	0.09022	0.002	B	0.04013	0.001	T	0.09100	-1.0690	10	0.51188	T	0.08	-7.404	7.2281	0.26026	0.1316:0.0:0.2581:0.6103	.	3	Q8NB12	SMYD1_HUMAN	R	3	ENSP00000393453:I3R;ENSP00000407888:I3R	ENSP00000393453:I3R	I	+	2	0	SMYD1	88148506	0.037000	0.19845	0.993000	0.49108	0.927000	0.56198	0.714000	0.25808	2.222000	0.72286	0.533000	0.62120	ATA		PASS	0.512	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		29	105	29	105	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125530522	125530522	+	Missense_Mutation	SNP	C	C	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr2:125530522C>T	ENST00000431078.1	+	17	3041	c.2677C>T	c.(2677-2679)Ctt>Ttt	p.L893F		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	893	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.L893F(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGTGGACAACCTTCCAAGGAG	0.537																																						uc002tno.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(2677-2679)CTT>TTT		contactin associated protein-like 5 precursor							149.0	142.0	144.0					2																	125530522		1944	4140	6084	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125530522C>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2677C>T	2.37:g.125530522C>T	ENSP00000399013:p.Leu893Phe					CNTNAP5_uc010flu.2_Missense_Mutation_p.L894F	p.L893F	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	17	3041	+			893			Laminin G-like 3.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2677C>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.048573	0.75846	.	.	ENSG00000155052	ENST00000431078	T	0.47177	0.85	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.166600	0.27896	N	0.017413	T	0.51517	0.1679	M	0.72118	2.19	0.58432	D	0.999994	B	0.22541	0.071	B	0.28553	0.091	T	0.46762	-0.9168	10	0.19590	T	0.45	.	18.7016	0.91621	0.0:1.0:0.0:0.0	.	893	Q8WYK1	CNTP5_HUMAN	F	893	ENSP00000399013:L893F	ENSP00000399013:L893F	L	+	1	0	CNTNAP5	125246992	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.044000	0.41241	2.664000	0.90586	0.645000	0.84053	CTT		PASS	0.537	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			33	88	33	88	---	---	---	---
UGGT1	56886	broad.mit.edu	37	2	128922352	128922352	+	Silent	SNP	A	A	G			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr2:128922352A>G	ENST00000259253.6	+	26	2921	c.2874A>G	c.(2872-2874)ccA>ccG	p.P958P	UGGT1_ENST00000375990.3_Silent_p.P934P	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	958					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.P958P(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CAGCGCAACCAAAAGGAGATC	0.368																																						uc002tps.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2872-2874)CCA>CCG		UDP-glucose ceramide glucosyltransferase-like 1							105.0	102.0	103.0					2																	128922352		2203	4300	6503	SO:0001819	synonymous_variant	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128922352A>G	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.2874A>G	2.37:g.128922352A>G						UGGT1_uc010fme.1_Silent_p.P833P|UGGT1_uc002tpr.2_Silent_p.P934P	p.P958P	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN			26	3052	+			958					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Silent	SNP	ENST00000259253.6	37	c.2874A>G	CCDS2154.1																																																																																				PASS	0.368	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		14	35	14	35	---	---	---	---
RAB3GAP1	22930	broad.mit.edu	37	2	135911411	135911411	+	Missense_Mutation	SNP	A	A	G			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr2:135911411A>G	ENST00000264158.8	+	19	2297	c.2254A>G	c.(2254-2256)Agg>Ggg	p.R752G	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.R752G|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.R708G	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	752					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.R752G(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TAGAAGGCAAAGGAGACTCTT	0.428																																						uc002tuj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2254-2256)AGG>GGG		RAB3 GTPase-activating protein							104.0	100.0	101.0					2																	135911411		2203	4300	6503	SO:0001583	missense	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135911411A>G	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2254A>G	2.37:g.135911411A>G	ENSP00000264158:p.Arg752Gly					RAB3GAP1_uc010fnf.2_Missense_Mutation_p.R752G|RAB3GAP1_uc010fng.2_Missense_Mutation_p.R577G|RAB3GAP1_uc010fnh.1_RNA	p.R752G	NM_012233	NP_036365	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	19	2279	+			752					A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	c.2254A>G	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	A	16.12	3.032651	0.54790	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.46063	0.89;0.88;0.89	5.55	4.33	0.51752	.	0.193602	0.52532	D	0.000065	T	0.37100	0.0991	L	0.59436	1.845	0.80722	D	1	P;P	0.37781	0.608;0.549	B;B	0.33846	0.171;0.129	T	0.33675	-0.9859	10	0.45353	T	0.12	-15.8299	11.8885	0.52616	0.6605:0.3395:0.0:0.0	.	752;752	C9J837;Q15042	.;RB3GP_HUMAN	G	752;708;752	ENSP00000264158:R752G;ENSP00000444306:R708G;ENSP00000411418:R752G	ENSP00000264158:R752G	R	+	1	2	RAB3GAP1	135627881	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	3.951000	0.56684	2.117000	0.64856	0.533000	0.62120	AGG		PASS	0.428	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		19	41	19	41	---	---	---	---
RBM45	129831	broad.mit.edu	37	2	178988582	178988582	+	Missense_Mutation	SNP	G	G	C			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr2:178988582G>C	ENST00000286070.5	+	7	1103	c.1011G>C	c.(1009-1011)atG>atC	p.M337I		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	339					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.M337I(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			CAACACAGATGGTAGCTGCAC	0.323																																						uc002ulv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1009-1011)ATG>ATC		RNA binding motif protein 45							67.0	70.0	69.0					2																	178988582		2203	4300	6503	SO:0001583	missense	129831				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr2:178988582G>C	AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"""RNA binding motif (RRM) containing"""	24468	protein-coding gene	gene with protein product	"""developmentally regulated RNA binding protein 1"""	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.1011G>C	2.37:g.178988582G>C	ENSP00000286070:p.Met337Ile						p.M337I	NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)		7	1103	+			339					Q6NYL0|Q8NFC9	Missense_Mutation	SNP	ENST00000286070.5	37	c.1011G>C	CCDS33335.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919179	0.33908	.	.	ENSG00000155636	ENST00000286070	T	0.04360	3.64	5.21	4.33	0.51752	.	0.145648	0.64402	D	0.000003	T	0.05410	0.0143	L	0.36672	1.1	0.43598	D	0.995956	B	0.24920	0.114	B	0.24394	0.053	T	0.39292	-0.9621	10	0.33940	T	0.23	-18.2146	13.1449	0.59456	0.0775:0.0:0.9225:0.0	.	337	Q8IUH3-3	.	I	337	ENSP00000286070:M337I	ENSP00000286070:M337I	M	+	3	0	RBM45	178696828	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.235000	0.51328	1.335000	0.45486	0.467000	0.42956	ATG		PASS	0.323	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945		19	39	19	39	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179446770	179446771	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr2:179446770_179446771GG>TT	ENST00000591111.1	-	265	61626_61627	c.61402_61403CC>AA	c.(61402-61404)CCt>AAt	p.P20468N	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P13169N|TTN_ENST00000460472.2_Missense_Mutation_p.P13044N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P22109N|TTN_ENST00000342992.6_Missense_Mutation_p.P19541N|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P13236N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20468	Fibronectin type-III 48. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P19539H(1)|p.P13044T(1)|p.P13236H(1)|p.P19541T(1)|p.P13236N(1)|p.P13169N(1)|p.P19541N(1)|p.P19541H(1)|p.P13169T(1)|p.P13236T(1)|p.P13044N(1)|p.P19539N(1)|p.P13044H(1)|p.P19539T(1)|p.P13169H(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)			TTCTATAATAGGTTTTCTGTTG	0.45																																						uc010zfg.1																			15	Substitution - Missense(15)		lung(15)	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.(58621-58623)CCT>CAT|c.(58621-58623)CCT>ACT		titin isoform N2-A																																				SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179446770G>T|g.chr2:179446771G>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.61402_61403delinsTT	2.37:g.179446770_179446771delinsTT	ENSP00000465570:p.Pro20468Asn					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P13236H|TTN_uc010zfi.1_Missense_Mutation_p.P13169H|TTN_uc010zfj.1_Missense_Mutation_p.P13044H|uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P13236T|TTN_uc010zfi.1_Missense_Mutation_p.P13169T|TTN_uc010zfj.1_Missense_Mutation_p.P13044T	p.P19541H|p.P19541T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		264	58846|58845	-			20468					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.58622C>A|c.58621C>A																																																																																					PASS	0.450	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		33|34	151|157	33	151	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179596203	179596203	+	Silent	SNP	G	G	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr2:179596203G>A	ENST00000591111.1	-	57	16563	c.16339C>T	c.(16339-16341)Cta>Tta	p.L5447L	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.L5764L|TTN_ENST00000342992.6_Silent_p.L4520L|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12266	Ig-like 35.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L4520L(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)			CTGTCTTTTAGCCAAGTCACC	0.478																																						uc010zfg.1																			1	Substitution - coding silent(1)		lung(1)	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.(13558-13560)CTA>TTA		titin isoform N2-A							76.0	72.0	73.0					2																	179596203		1919	4137	6056	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179596203G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16339C>T	2.37:g.179596203G>A						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.L1181L	p.L4520L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		56	13782	-			5447					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.13558C>T																																																																																					PASS	0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	42	8	42	---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210561312	210561312	+	Silent	SNP	A	A	G			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr2:210561312A>G	ENST00000360351.4	+	8	4733	c.4227A>G	c.(4225-4227)aaA>aaG	p.K1409K	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Silent_p.K1405K	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1409					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.K1409K(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CTATTCCTAAAGAGGAGAAAG	0.383																																					Pancreas(27;423 979 28787 29963)	uc002vde.1																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(4225-4227)AAA>AAG		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						66.0	71.0	69.0					2																	210561312		2203	4299	6502	SO:0001819	synonymous_variant	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210561312A>G		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4227A>G	2.37:g.210561312A>G						MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.K1405K	p.K1409K	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	8	4475	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1409					Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	c.4227A>G	CCDS2384.1																																																																																				PASS	0.383	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		16	56	16	56	---	---	---	---
KAT2B	8850	broad.mit.edu	37	3	20142869	20142869	+	Missense_Mutation	SNP	C	C	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr3:20142869C>T	ENST00000263754.4	+	5	1215	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	254					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.R254C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						GTTCCTAAACCGCATCAACTA	0.398																																						uc003cbq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(760-762)CGC>TGC		K(lysine) acetyltransferase 2B							131.0	113.0	119.0					3																	20142869		2203	4300	6503	SO:0001583	missense	8850				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	g.chr3:20142869C>T	U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.760C>T	3.37:g.20142869C>T	ENSP00000263754:p.Arg254Cys						p.R254C	NM_003884	NP_003875	Q92831	KAT2B_HUMAN			5	1206	+			254					Q6NSK1	Missense_Mutation	SNP	ENST00000263754.4	37	c.760C>T	CCDS2634.1	.	.	.	.	.	.	.	.	.	.	C	9.560	1.118118	0.20877	.	.	ENSG00000114166	ENST00000263754	T	0.18960	2.18	5.82	5.82	0.92795	PCAF, N-terminal (1);	0.048993	0.85682	D	0.000000	T	0.07279	0.0184	N	0.00289	-1.7	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.44314	-0.9336	10	0.30078	T	0.28	-13.7101	20.093	0.97828	0.0:1.0:0.0:0.0	.	254	Q92831	KAT2B_HUMAN	C	254	ENSP00000263754:R254C	ENSP00000263754:R254C	R	+	1	0	KAT2B	20117873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.050000	0.71063	2.756000	0.94617	0.561000	0.74099	CGC		PASS	0.398	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884		8	45	8	45	---	---	---	---
CRYBG3	131544	broad.mit.edu	37	3	97596183	97596183	+	Missense_Mutation	SNP	G	G	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr3:97596183G>T	ENST00000182096.4	+	1	365	c.301G>T	c.(301-303)Gtc>Ttc	p.V101F		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2049							carbohydrate binding (GO:0030246)	p.V101F(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						AACTGACCTTGTCCATCACTT	0.413																																						uc003drx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(301-303)GTC>TTC		beta-gamma crystallin domain containing 3							61.0	61.0	61.0					3																	97596183		1929	4130	6059	SO:0001583	missense	131544							g.chr3:97596183G>T			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.301G>T	3.37:g.97596183G>T	ENSP00000182096:p.Val101Phe						p.V101F	NM_153605	NP_705833					1	365	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37	c.301G>T		.	.	.	.	.	.	.	.	.	.	G	12.21	1.869013	0.32977	.	.	ENSG00000080200	ENST00000182096	T	0.76186	-1.0	5.84	0.576	0.17380	.	0.564438	0.16477	N	0.212727	T	0.52191	0.1719	L	0.27053	0.805	0.23585	N	0.997357	B	0.31054	0.306	B	0.27500	0.08	T	0.41342	-0.9514	10	0.45353	T	0.12	.	1.3172	0.02110	0.1865:0.2628:0.3306:0.2202	.	101	Q68DQ2	CRBG3_HUMAN	F	101	ENSP00000182096:V101F	ENSP00000182096:V101F	V	+	1	0	CRYBG3	99078873	0.000000	0.05858	0.556000	0.28293	0.994000	0.84299	-0.079000	0.11357	0.031000	0.15407	0.650000	0.86243	GTC		PASS	0.413	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		18	57	18	57	---	---	---	---
CD47	961	broad.mit.edu	37	3	107776416	107776416	+	Splice_Site	SNP	G	G	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr3:107776416G>A	ENST00000361309.5	-	7	890	c.785C>T	c.(784-786)gCg>gTg	p.A262V	CD47_ENST00000471694.1_5'Flank|CD47_ENST00000355354.7_Splice_Site_p.A262V	NM_001777.3	NP_001768.1	Q08722	CD47_HUMAN	CD47 molecule	262					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|opsonization (GO:0008228)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of inflammatory response (GO:0050729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T cell activation (GO:0050870)|response to bacterium (GO:0009617)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)	p.A262V(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			TGGTATACACGCTGTAAAAAC	0.313																																						uc003dwt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(784-786)GCG>GTG		CD47 antigen isoform 1 precursor							66.0	63.0	64.0					3																	107776416		1808	4082	5890	SO:0001630	splice_region_variant	961				blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to plasma membrane	protein binding|thrombospondin receptor activity	g.chr3:107776416G>A		CCDS43125.1, CCDS43126.1	3q13.1-q13.2	2013-01-11	2006-03-28		ENSG00000196776	ENSG00000196776		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1682	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibody 1D8"", ""antigenic surface determinant protein OA3"", ""integrin associated protein"", ""Rh-related antigen"", ""leukocyte surface antigen CD47"", ""CD47 glycoprotein"""	601028	"""CD47 antigen (Rh-related antigen, integrin-associated signal transducer)"""	MER6		8294396, 2277087	Standard	XM_005247908		Approved	IAP, OA3	uc003dwt.1	Q08722	OTTHUMG00000044216	ENST00000361309.5:c.785-1C>T	3.37:g.107776416G>A						CD47_uc003dwu.1_Missense_Mutation_p.A262V|CD47_uc003dwv.1_Missense_Mutation_p.A262V|CD47_uc003dww.1_Missense_Mutation_p.A262V	p.A262V	NM_001777	NP_001768	Q08722	CD47_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)		7	965	-			262			Extracellular (Potential).		A8K198|D3DN59|Q53Y71|Q96A60	Missense_Mutation	SNP	ENST00000361309.5	37	c.785C>T	CCDS43126.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.18|13.18	2.158744|2.158744	0.38119|0.38119	.|.	.|.	ENSG00000196776|ENSG00000196776	ENST00000355354;ENST00000398258;ENST00000361309|ENST00000517766	.|.	.|.	.|.	5.63|5.63	3.41|3.41	0.39046|0.39046	CD47 transmembrane (1);|.	0.274240|.	0.31834|.	N|.	0.006988|.	T|T	0.27454|0.27454	0.0674|0.0674	N|N	0.12182|0.12182	0.205|0.205	0.35921|0.35921	D|D	0.831787|0.831787	B;B;B;B|.	0.21309|.	0.043;0.043;0.054;0.054|.	B;B;B;B|.	0.15484|.	0.008;0.008;0.013;0.013|.	T|T	0.21109|0.21109	-1.0255|-1.0255	9|5	0.52906|.	T|.	0.07|.	.|.	4.8955|4.8955	0.13748|0.13748	0.1317:0.0:0.3788:0.4895|0.1317:0.0:0.3788:0.4895	.|.	262;262;262;262|.	Q08722-2;Q08722-3;E9PB22;Q08722|.	.;.;.;CD47_HUMAN|.	V|C	262;9;262|59	.|.	ENSP00000347512:A262V|.	A|R	-|-	2|1	0|0	CD47|CD47	109259106|109259106	0.967000|0.967000	0.33354|0.33354	0.924000|0.924000	0.36721|0.36721	0.640000|0.640000	0.38277|0.38277	1.597000|1.597000	0.36729|0.36729	1.281000|1.281000	0.44480|0.44480	0.655000|0.655000	0.94253|0.94253	GCG|CGT		PASS	0.313	CD47-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000102793.1	NM_001777	Missense_Mutation	16	24	16	24	---	---	---	---
TRH	7200	broad.mit.edu	37	3	129695813	129695813	+	Silent	SNP	C	C	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr3:129695813C>A	ENST00000302649.3	+	3	1010	c.483C>A	c.(481-483)ccC>ccA	p.P161P	TRH_ENST00000507066.1_Silent_p.P157P	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	161					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)	p.P161P(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						TGGCAGATCCCAAGGCTCAAA	0.617																																					Esophageal Squamous(60;321 1330 17401 41911)	uc003enc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(481-483)CCC>CCA		thyrotropin-releasing hormone							35.0	37.0	36.0					3																	129695813		2203	4300	6503	SO:0001819	synonymous_variant	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695813C>A		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.483C>A	3.37:g.129695813C>A							p.P161P	NM_007117	NP_009048	P20396	TRH_HUMAN			3	1044	+			161					B2R8R1|Q2TB83	Silent	SNP	ENST00000302649.3	37	c.483C>A	CCDS3066.1																																																																																				PASS	0.617	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		12	38	12	38	---	---	---	---
ACAD11	84129	broad.mit.edu	37	3	132363689	132363689	+	Silent	SNP	A	A	G			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr3:132363689A>G	ENST00000264990.6	-	2	1172	c.201T>C	c.(199-201)taT>taC	p.Y67Y	ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000355458.3_Silent_p.Y67Y|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000481970.2_Silent_p.Y67Y	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	67					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)	p.Y67Y(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						TCCTGAGCACATATGTTTGAA	0.328																																						uc003eov.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(199-201)TAT>TAC		putative acyl-CoA dehydrogenase							103.0	108.0	106.0					3																	132363689		2203	4300	6503	SO:0001819	synonymous_variant	84129					peroxisome	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups	g.chr3:132363689A>G	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.201T>C	3.37:g.132363689A>G						NPHP3_uc003eoz.1_Silent_p.Y226Y|ACAD11_uc003eoy.2_Silent_p.Y67Y	p.Y67Y	NM_032169	NP_115545	Q709F0	ACD11_HUMAN			2	581	-			67					Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Silent	SNP	ENST00000264990.6	37	c.201T>C	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	A	9.067	0.995831	0.19043	.	.	ENSG00000113971	ENST00000393144	.	.	.	6.16	2.49	0.30216	.	.	.	.	.	T	0.50446	0.1616	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22800	-1.0206	5	0.16896	T	0.51	.	10.0663	0.42306	0.8181:0.0:0.1819:0.0	.	.	.	.	R	626	.	ENSP00000376852:C626R	C	-	1	0	NPHP3	133846379	1.000000	0.71417	0.922000	0.36590	0.940000	0.58332	2.978000	0.49305	0.195000	0.20347	0.528000	0.53228	TGT		PASS	0.328	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		25	59	25	59	---	---	---	---
TMEM108	66000	broad.mit.edu	37	3	133109124	133109124	+	Silent	SNP	C	C	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr3:133109124C>T	ENST00000321871.6	+	5	1761	c.1551C>T	c.(1549-1551)ttC>ttT	p.F517F	TMEM108_ENST00000508711.1_Silent_p.F47F|TMEM108_ENST00000393130.3_Silent_p.F517F	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	517						integral component of membrane (GO:0016021)		p.F517F(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGGACTACTTCAACAGGCATG	0.552																																						uc003eph.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(1549-1551)TTC>TTT		transmembrane protein 108 precursor							343.0	319.0	327.0					3																	133109124		2203	4300	6503	SO:0001819	synonymous_variant	66000					integral to membrane		g.chr3:133109124C>T	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.1551C>T	3.37:g.133109124C>T						TMEM108_uc003epi.2_Silent_p.F517F|TMEM108_uc003epk.2_Silent_p.F47F|TMEM108_uc003epm.2_Silent_p.F468F	p.F517F	NM_023943	NP_076432	Q6UXF1	TM108_HUMAN			5	1825	+			517			Cytoplasmic (Potential).		D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Silent	SNP	ENST00000321871.6	37	c.1551C>T	CCDS33858.1																																																																																				PASS	0.552	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		33	220	33	220	---	---	---	---
EPHB1	2047	broad.mit.edu	37	3	134851865	134851865	+	Missense_Mutation	SNP	C	C	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr3:134851865C>T	ENST00000398015.3	+	5	1641	c.1271C>T	c.(1270-1272)tCt>tTt	p.S424F	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	424	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.S424F(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CAGCACGTCTCTGTCAACATC	0.572																																						uc003eqt.2																			2	Substitution - Missense(2)		lung(2)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(1270-1272)TCT>TTT		ephrin receptor EphB1 precursor							43.0	45.0	44.0					3																	134851865		2143	4240	6383	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134851865C>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1271C>T	3.37:g.134851865C>T	ENSP00000381097:p.Ser424Phe					EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR	p.S424F	NM_004441	NP_004432	P54762	EPHB1_HUMAN			5	1491	+			424			Extracellular (Potential).|Fibronectin type-III 1.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.1271C>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887506	0.91814	.	.	ENSG00000154928	ENST00000398015	T	0.74842	-0.88	5.41	5.41	0.78517	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.067409	0.64402	D	0.000009	D	0.82669	0.5087	M	0.81942	2.565	0.80722	D	1	D	0.55800	0.973	P	0.50490	0.642	D	0.85413	0.1138	10	0.66056	D	0.02	.	19.2034	0.93720	0.0:1.0:0.0:0.0	.	424	P54762	EPHB1_HUMAN	F	424	ENSP00000381097:S424F	ENSP00000381097:S424F	S	+	2	0	EPHB1	136334555	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	7.818000	0.86416	2.533000	0.85409	0.655000	0.94253	TCT		PASS	0.572	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		6	9	6	9	---	---	---	---
MRAS	22808	broad.mit.edu	37	3	138091773	138091773	+	Silent	SNP	G	G	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr3:138091773G>T	ENST00000289104.4	+	2	695	c.48G>T	c.(46-48)ctG>ctT	p.L16L	MRAS_ENST00000474559.1_Silent_p.L16L|MRAS_ENST00000423968.2_Silent_p.L16L|MRAS_ENST00000464896.1_Intron	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	16					actin cytoskeleton organization (GO:0030036)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|Ras protein signal transduction (GO:0007265)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)	p.L16L(1)		kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						CATACAAGCTGGTGGTGGTGG	0.557																																						uc003esh.3																			1	Substitution - coding silent(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(46-48)CTG>CTT		muscle RAS oncogene homolog precursor							80.0	79.0	80.0					3																	138091773		2203	4300	6503	SO:0001819	synonymous_variant	22808				actin cytoskeleton organization|muscle organ development|Ras protein signal transduction	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity	g.chr3:138091773G>T	AF022080	CCDS3100.1, CCDS58855.1	3q22.3	2014-05-09			ENSG00000158186	ENSG00000158186			7227	protein-coding gene	gene with protein product		608435				9400994, 10446149	Standard	NM_012219		Approved	M-RAs, R-RAS3, RRAS3	uc003esi.4	O14807	OTTHUMG00000159888	ENST00000289104.4:c.48G>T	3.37:g.138091773G>T						MRAS_uc011bmi.1_Intron|MRAS_uc003esi.3_Silent_p.L16L|MRAS_uc011bmj.1_Intron	p.L16L	NM_012219	NP_036351	O14807	RASM_HUMAN			2	609	+			16					B4DIK0|Q86WX8	Silent	SNP	ENST00000289104.4	37	c.48G>T	CCDS3100.1																																																																																				PASS	0.557	MRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357990.1			26	76	26	76	---	---	---	---
ARL14	80117	broad.mit.edu	37	3	160395290	160395290	+	Silent	SNP	C	C	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr3:160395290C>T	ENST00000320767.2	+	1	343	c.156C>T	c.(154-156)atC>atT	p.I52I		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	52					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	GTP binding (GO:0005525)	p.I52I(1)		lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			TGGAAATGATCGAGTTGGAAA	0.438																																						uc003fdq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(154-156)ATC>ATT		ADP-ribosylation factor-like 14							156.0	144.0	148.0					3																	160395290		2203	4300	6503	SO:0001819	synonymous_variant	80117				small GTPase mediated signal transduction	intracellular	GTP binding	g.chr3:160395290C>T	AK026248	CCDS3192.1	3q25.33	2014-05-09	2005-11-03	2005-11-03	ENSG00000179674	ENSG00000179674		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	22974	protein-coding gene	gene with protein product		614439	"""ADP-ribosylation factor 7"""	ARF7		15367757	Standard	NM_025047		Approved	FLJ22595	uc003fdq.3	Q8N4G2	OTTHUMG00000159031	ENST00000320767.2:c.156C>T	3.37:g.160395290C>T							p.I52I	NM_025047	NP_079323	Q8N4G2	ARL14_HUMAN	Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)		1	343	+			52					Q9H655	Silent	SNP	ENST00000320767.2	37	c.156C>T	CCDS3192.1																																																																																				PASS	0.438	ARL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352958.1	NM_025047		22	102	22	102	---	---	---	---
MCF2L2	23101	broad.mit.edu	37	3	182897372	182897372	+	Missense_Mutation	SNP	C	C	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr3:182897372C>T	ENST00000328913.3	-	29	3511	c.3214G>A	c.(3214-3216)Gag>Aag	p.E1072K	MCF2L2_ENST00000473233.1_Missense_Mutation_p.E1072K|MCF2L2_ENST00000468976.1_5'Flank	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	1072							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E1072K(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CACGTTTCCTCCTCATCGCGT	0.557																																						uc003fli.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.(3214-3216)GAG>AAG		Rho family guanine-nucleotide exchange factor							119.0	133.0	128.0					3																	182897372		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182897372C>T	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.3214G>A	3.37:g.182897372C>T	ENSP00000328118:p.Glu1072Lys						p.E1072K	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		29	3304	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		1072					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.3214G>A	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839897	0.32513	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	T;T	0.01947	4.54;4.58	4.26	-3.92	0.04155	.	3.465440	0.00654	N	0.000561	T	0.01189	0.0039	N	0.12182	0.205	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.40534	-0.9558	10	0.06365	T	0.9	.	0.8348	0.01137	0.1478:0.2626:0.2735:0.3161	.	1072	Q86YR7	MF2L2_HUMAN	K	1072	ENSP00000328118:E1072K;ENSP00000420070:E1072K	ENSP00000328118:E1072K	E	-	1	0	MCF2L2	184380066	0.000000	0.05858	0.000000	0.03702	0.414000	0.31173	-1.664000	0.01966	-0.637000	0.05516	0.511000	0.50034	GAG		PASS	0.557	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		32	889	32	889	---	---	---	---
MCF2L2	23101	broad.mit.edu	37	3	182897440	182897440	+	Missense_Mutation	SNP	C	C	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr3:182897440C>T	ENST00000328913.3	-	29	3443	c.3146G>A	c.(3145-3147)tGt>tAt	p.C1049Y	MCF2L2_ENST00000473233.1_Missense_Mutation_p.C1049Y|MCF2L2_ENST00000468976.1_5'Flank	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	1049							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.C1049Y(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTTGGAGGAACAGGTTTCGTG	0.567																																						uc003fli.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.(3145-3147)TGT>TAT		Rho family guanine-nucleotide exchange factor							99.0	109.0	106.0					3																	182897440		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182897440C>T	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.3146G>A	3.37:g.182897440C>T	ENSP00000328118:p.Cys1049Tyr						p.C1049Y	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		29	3236	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		1049					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.3146G>A	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	9.502	1.103487	0.20632	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	T;T	0.01854	4.6;4.65	4.07	1.02	0.19986	.	1.340310	0.04973	N	0.464299	T	0.02230	0.0069	N	0.19112	0.55	0.09310	N	1	P	0.46277	0.875	B	0.41571	0.36	T	0.46219	-0.9207	10	0.56958	D	0.05	.	5.9695	0.19344	0.0:0.5193:0.3718:0.1088	.	1049	Q86YR7	MF2L2_HUMAN	Y	1049	ENSP00000328118:C1049Y;ENSP00000420070:C1049Y	ENSP00000328118:C1049Y	C	-	2	0	MCF2L2	184380134	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.892000	0.28322	0.005000	0.14708	0.511000	0.50034	TGT		PASS	0.567	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		29	870	29	870	---	---	---	---
ECE2	9718	broad.mit.edu	37	3	184005696	184005696	+	Silent	SNP	C	C	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr3:184005696C>T	ENST00000402825.3	+	11	1689	c.1689C>T	c.(1687-1689)ctC>ctT	p.L563L	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Silent_p.L445L|ECE2_ENST00000357474.5_Silent_p.L491L|ECE2_ENST00000359140.4_Silent_p.L416L	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	563	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)	p.L491L(1)|p.L563L(1)|p.L416L(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGGGGTCCCTCTTCGTGAAGG	0.498																																						uc003fni.3																			3	Substitution - coding silent(3)		lung(3)	ovary(2)|skin(2)	4						c.(1687-1689)CTC>CTT		endothelin converting enzyme 2 isoform A							110.0	97.0	101.0					3																	184005696		2203	4300	6503	SO:0001819	synonymous_variant	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:184005696C>T	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1689C>T	3.37:g.184005696C>T						ECE2_uc011brh.1_Silent_p.L416L|ECE2_uc003fnl.3_Silent_p.L491L|ECE2_uc003fnm.3_Silent_p.L445L|ECE2_uc003fnk.3_Silent_p.L416L|ECE2_uc011bri.1_Silent_p.L478L|ECE2_uc010hxv.2_Silent_p.L207L	p.L563L	NM_014693	NP_055508	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		11	1727	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		563			Lumenal (Potential).|Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Silent	SNP	ENST00000402825.3	37	c.1689C>T	CCDS3256.2																																																																																				PASS	0.498	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		458	52	458	52	---	---	---	---
ADIPOQ	9370	broad.mit.edu	37	3	186572371	186572371	+	Missense_Mutation	SNP	C	C	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr3:186572371C>A	ENST00000412955.2	+	3	754	c.613C>A	c.(613-615)Ctg>Atg	p.L205M	ADIPOQ_ENST00000320741.2_Missense_Mutation_p.L205M|ADIPOQ_ENST00000444204.2_Missense_Mutation_p.L205M|ADIPOQ-AS1_ENST00000422718.1_RNA			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	205	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				adiponectin-activated signaling pathway (GO:0033211)|brown fat cell differentiation (GO:0050873)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to insulin stimulus (GO:0032869)|circadian rhythm (GO:0007623)|detection of oxidative stress (GO:0070994)|fatty acid beta-oxidation (GO:0006635)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|low-density lipoprotein particle clearance (GO:0034383)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of hormone secretion (GO:0046888)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular protein transport (GO:0090317)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metanephric mesenchymal cell migration (GO:2000590)|negative regulation of phagocytosis (GO:0050765)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of receptor binding (GO:1900121)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of synaptic transmission (GO:0050805)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|positive regulation of blood pressure (GO:0045777)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of metanephric glomerular visceral epithelial cell development (GO:2000478)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myeloid cell apoptotic process (GO:0033034)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal albumin absorption (GO:2000534)|positive regulation of signal transduction (GO:0009967)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|regulation of glucose metabolic process (GO:0010906)|response to activity (GO:0014823)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to linoleic acid (GO:0070543)|response to nutrient (GO:0007584)|response to sucrose (GO:0009744)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|sialic acid binding (GO:0033691)	p.L205M(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		GCTCCTGCATCTGGAGGTGGG	0.517																																						uc003fra.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(613-615)CTG>ATG		adiponectin precursor							76.0	76.0	76.0					3																	186572371		2203	4300	6503	SO:0001583	missense	9370				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity	g.chr3:186572371C>A	D45371	CCDS3284.1	3q27	2013-02-26	2005-01-24	2005-01-27	ENSG00000181092	ENSG00000181092		"""Endogenous ligands"""	13633	protein-coding gene	gene with protein product	"""adipose most abundant gene transcript 1"", ""adiponectin precursor"""	605441	"""adipocyte, C1Q and collagen domain containing"""	ACDC		7592907, 8631877	Standard	NM_001177800		Approved	ACRP30, AdipoQ, apM1, GBP28, adiponectin	uc003fra.3	Q15848	OTTHUMG00000156521	ENST00000412955.2:c.613C>A	3.37:g.186572371C>A	ENSP00000405611:p.Leu205Met					ADIPOQ_uc010hyy.2_Missense_Mutation_p.L205M	p.L205M	NM_004797	NP_004788	Q15848	ADIPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)	3	697	+	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		205			C1q.		Q58EX9	Missense_Mutation	SNP	ENST00000412955.2	37	c.613C>A	CCDS3284.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532422	0.64972	.	.	ENSG00000181092	ENST00000412955;ENST00000320741;ENST00000444204	D;D;D	0.92545	-3.06;-3.06;-3.06	5.31	3.53	0.40419	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.56097	D	0.000027	D	0.95765	0.8622	M	0.87269	2.87	0.54753	D	0.999981	D	0.89917	1.0	D	0.83275	0.996	D	0.95022	0.8161	10	0.72032	D	0.01	.	9.6887	0.40114	0.0:0.8305:0.0:0.1695	.	205	Q15848	ADIPO_HUMAN	M	205	ENSP00000405611:L205M;ENSP00000320709:L205M;ENSP00000389814:L205M	ENSP00000320709:L205M	L	+	1	2	ADIPOQ	188055065	0.973000	0.33851	0.988000	0.46212	0.973000	0.67179	2.069000	0.41481	0.752000	0.32923	0.655000	0.94253	CTG		PASS	0.517	ADIPOQ-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344490.2	NM_004797		22	85	22	85	---	---	---	---
NRROS	375387	broad.mit.edu	37	3	196387871	196387871	+	Missense_Mutation	SNP	C	C	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr3:196387871C>T	ENST00000328557.4	+	3	1560	c.1357C>T	c.(1357-1359)Cct>Tct	p.P453S		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	453					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P453S(1)									GGTGGGCCCCCCTAGCTGTGT	0.572																																						uc003fwv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1357-1359)CCT>TCT		leucine rich repeat containing 33 precursor							119.0	123.0	122.0					3																	196387871		2203	4300	6503	SO:0001583	missense	375387					integral to membrane		g.chr3:196387871C>T	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1357C>T	3.37:g.196387871C>T	ENSP00000328625:p.Pro453Ser						p.P453S	NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	3	1461	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		453			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000328557.4	37	c.1357C>T	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.564327	0.00134	.	.	ENSG00000174004	ENST00000328557	T	0.47177	0.85	5.4	-1.37	0.09056	.	0.433129	0.23883	N	0.043637	T	0.18383	0.0441	N	0.11927	0.2	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.13415	-1.0510	10	0.09590	T	0.72	.	2.5249	0.04689	0.1045:0.4168:0.2056:0.273	.	453	Q86YC3	LRC33_HUMAN	S	453	ENSP00000328625:P453S	ENSP00000328625:P453S	P	+	1	0	LRRC33	197872268	0.000000	0.05858	0.001000	0.08648	0.320000	0.28249	-0.074000	0.11450	-0.134000	0.11516	0.655000	0.94253	CCT		PASS	0.572	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		35	122	35	122	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146064527	146064527	+	Missense_Mutation	SNP	G	G	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr4:146064527G>A	ENST00000447906.2	-	17	1860	c.1673C>T	c.(1672-1674)cCt>cTt	p.P558L	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_Missense_Mutation_p.P493L			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	558					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.P492L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TTGTTCCGCAGGAGAAGGGCA	0.358																																						uc003ika.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1477-1479)CCT>CTT		OTU domain containing 4 protein isoform 3							109.0	102.0	105.0					4																	146064527		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146064527G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.1673C>T	4.37:g.146064527G>A	ENSP00000395487:p.Pro558Leu					OTUD4_uc003ijz.3_Missense_Mutation_p.P492L	p.P493L	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN			17	1616	-	all_hematologic(180;0.151)		557					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.1478C>T		.	.	.	.	.	.	.	.	.	.	G	13.45	2.239563	0.39598	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34667	1.37;1.35	5.49	4.64	0.57946	.	0.261947	0.32785	N	0.005657	T	0.26738	0.0654	L	0.29908	0.895	0.80722	D	1	B;B	0.21606	0.058;0.034	B;B	0.21917	0.037;0.016	T	0.05517	-1.0880	10	0.42905	T	0.14	-9.286	10.1223	0.42627	0.0923:0.0:0.9077:0.0	.	558;557	G3V0I6;Q01804	.;OTUD4_HUMAN	L	493;558	ENSP00000409279:P493L;ENSP00000395487:P558L	ENSP00000395487:P558L	P	-	2	0	OTUD4	146283977	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	2.942000	0.49018	1.307000	0.44944	0.655000	0.94253	CCT		PASS	0.358	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		4	29	4	29	---	---	---	---
LRBA	987	broad.mit.edu	37	4	151509335	151509335	+	Splice_Site	SNP	A	A	C			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr4:151509335A>C	ENST00000357115.3	-	41	6471	c.6228T>G	c.(6226-6228)ggT>ggG	p.G2076G	LRBA_ENST00000507224.1_Splice_Site_p.G2065G|LRBA_ENST00000510413.1_Splice_Site_p.G2065G|LRBA_ENST00000535741.1_Splice_Site_p.G2065G	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2076						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.G2076G(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GGCTAACAGGACCTGCCAAAA	0.433																																						uc010ipj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(3)|skin(1)	7						c.(6226-6228)GGT>GGG		LPS-responsive vesicle trafficking, beach and							34.0	41.0	39.0					4																	151509335		2203	4299	6502	SO:0001630	splice_region_variant	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151509335A>C	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6227-1T>G	4.37:g.151509335A>C						LRBA_uc003ilt.3_Silent_p.G724G|LRBA_uc003ilu.3_Silent_p.G2065G	p.G2076G	NM_006726	NP_006717	P50851	LRBA_HUMAN			41	6702	-	all_hematologic(180;0.151)		2076					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Silent	SNP	ENST00000357115.3	37	c.6228T>G	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	A	7.924	0.739226	0.15642	.	.	ENSG00000198589	ENST00000509835	.	.	.	6.03	0.604	0.17547	.	.	.	.	.	T	0.52338	0.1728	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40156	-0.9578	4	.	.	.	.	6.4434	0.21863	0.625:0.2462:0.1288:0.0	.	.	.	.	G	718	.	.	V	-	2	0	LRBA	151728785	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.866000	0.27954	0.164000	0.19529	0.533000	0.62120	GTC		PASS	0.433	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		Silent	5	23	5	23	---	---	---	---
LRP2BP	55805	broad.mit.edu	37	4	186294028	186294028	+	Missense_Mutation	SNP	C	C	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr4:186294028C>A	ENST00000328559.7	-	6	1596	c.785G>T	c.(784-786)tGt>tTt	p.C262F	LRP2BP_ENST00000362004.3_Missense_Mutation_p.C264F|LRP2BP_ENST00000510776.1_Missense_Mutation_p.C236F|LRP2BP_ENST00000505916.1_Missense_Mutation_p.C262F|RP11-714G18.1_ENST00000514884.1_RNA	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	262						cytoplasm (GO:0005737)		p.C262F(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		AAATGCAACACACTTTGTAAA	0.388																																						uc003ixj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(784-786)TGT>TTT		LRP2 binding protein							82.0	88.0	86.0					4																	186294028		2203	4300	6503	SO:0001583	missense	55805					cytoplasm	protein binding	g.chr4:186294028C>A	AB037746	CCDS3840.1	4q35.1	2011-05-03			ENSG00000109771	ENSG00000109771			25434	protein-coding gene	gene with protein product						10718198, 12508107	Standard	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	Q9P2M1	OTTHUMG00000160460	ENST00000328559.7:c.785G>T	4.37:g.186294028C>A	ENSP00000332681:p.Cys262Phe					LRP2BP_uc003ixk.1_Missense_Mutation_p.C236F|LRP2BP_uc011ckr.1_Missense_Mutation_p.C262F	p.C262F	NM_018409	NP_060879	Q9P2M1	LR2BP_HUMAN		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)	6	1597	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	262			Sel1-like 5.		A6NJR7|A7E219|B3KX83|Q9NSN6	Missense_Mutation	SNP	ENST00000328559.7	37	c.785G>T	CCDS3840.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952125	0.73787	.	.	ENSG00000109771	ENST00000362004;ENST00000328559;ENST00000510776;ENST00000505916	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.97	5.08	0.68730	Tetratricopeptide-like helical (1);	0.108387	0.64402	D	0.000015	T	0.44519	0.1297	N	0.14661	0.345	0.42176	D	0.99166	D;D	0.62365	0.991;0.99	P;P	0.54544	0.755;0.731	T	0.48080	-0.9066	10	0.66056	D	0.02	-28.015	14.0058	0.64463	0.0:0.6863:0.3137:0.0	.	236;262	G5E9Z9;Q9P2M1	.;LR2BP_HUMAN	F	264;262;236;262	ENSP00000354846:C264F;ENSP00000332681:C262F;ENSP00000424610:C236F;ENSP00000426203:C262F	ENSP00000332681:C262F	C	-	2	0	LRP2BP	186531022	1.000000	0.71417	0.999000	0.59377	0.847000	0.48162	4.819000	0.62664	2.825000	0.97269	0.655000	0.94253	TGT		PASS	0.388	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360679.2	NM_018409		29	42	29	42	---	---	---	---
SLC6A3	6531	broad.mit.edu	37	5	1416275	1416275	+	Silent	SNP	G	G	T	rs369950427		TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr5:1416275G>T	ENST00000270349.9	-	7	1096	c.969C>A	c.(967-969)ggC>ggA	p.G323G	SLC6A3_ENST00000453492.2_Silent_p.G323G	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	323					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)	p.G323G(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CGAACCCCACGCCCAGGGAGA	0.622																																						uc003jck.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)	6						c.(967-969)GGC>GGA		solute carrier family 6 (neurotransmitter	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						88.0	80.0	83.0					5																	1416275		2203	4300	6503	SO:0001819	synonymous_variant	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1416275G>T		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.969C>A	5.37:g.1416275G>T							p.G323G	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		7	1090	-			323			Helical; Name=6; (Potential).		A2RUN4|Q14996	Silent	SNP	ENST00000270349.9	37	c.969C>A	CCDS3863.1																																																																																				PASS	0.622	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		7	33	7	33	---	---	---	---
CMBL	134147	broad.mit.edu	37	5	10290841	10290841	+	Missense_Mutation	SNP	T	T	C			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr5:10290841T>C	ENST00000296658.3	-	2	454	c.34A>G	c.(34-36)Att>Gtt	p.I12V	CMBL_ENST00000510532.1_5'UTR|Y_RNA_ENST00000516532.1_RNA	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)	12						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)	p.I12V(1)		endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						CTGTGGCCAATGTCACACGGA	0.468																																						uc003jes.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(34-36)ATT>GTT		carboxymethylenebutenolidase							131.0	124.0	126.0					5																	10290841		2203	4300	6503	SO:0001583	missense	134147					cytosol	hydrolase activity|protein binding	g.chr5:10290841T>C		CCDS3878.1	5p15.2	2010-06-25	2006-09-12		ENSG00000164237	ENSG00000164237	3.1.-.-		25090	protein-coding gene	gene with protein product		613379	"""carboxymethylenebutenolidase-like (Pseudomonas)"""			3804974, 20177059	Standard	NM_138809		Approved	FLJ23617	uc003jes.3	Q96DG6	OTTHUMG00000131043	ENST00000296658.3:c.34A>G	5.37:g.10290841T>C	ENSP00000296658:p.Ile12Val						p.I12V	NM_138809	NP_620164	Q96DG6	CMBL_HUMAN			2	485	-			12					D3DTC7|Q8TED6	Missense_Mutation	SNP	ENST00000296658.3	37	c.34A>G	CCDS3878.1	.	.	.	.	.	.	.	.	.	.	t	14.83	2.652731	0.47362	.	.	ENSG00000164237	ENST00000296658	T	0.41065	1.01	5.58	4.37	0.52481	.	0.056446	0.64402	D	0.000002	T	0.37544	0.1007	M	0.68952	2.095	0.40839	D	0.983654	P	0.40083	0.702	B	0.34418	0.182	T	0.33675	-0.9859	10	0.29301	T	0.29	-23.6925	12.1409	0.53996	0.0:0.0:0.1425:0.8574	.	12	Q96DG6	CMBL_HUMAN	V	12	ENSP00000296658:I12V	ENSP00000296658:I12V	I	-	1	0	CMBL	10343841	1.000000	0.71417	1.000000	0.80357	0.083000	0.17756	2.604000	0.46274	2.139000	0.66308	0.524000	0.50904	ATT		PASS	0.468	CMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253689.1	NM_138809		25	77	25	77	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32090630	32090630	+	Missense_Mutation	SNP	C	C	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr5:32090630C>T	ENST00000438447.1	+	20	7464	c.7076C>T	c.(7075-7077)cCa>cTa	p.P2359L	PDZD2_ENST00000282493.3_Missense_Mutation_p.P2359L			O15018	PDZD2_HUMAN	PDZ domain containing 2	2359					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.P2359L(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGGGCTTCCCCATTTTTGTCG	0.577																																						uc003jhl.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(7075-7077)CCA>CTA		PDZ domain containing 2							32.0	36.0	34.0					5																	32090630		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090630C>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.7076C>T	5.37:g.32090630C>T	ENSP00000402033:p.Pro2359Leu					PDZD2_uc003jhm.2_Missense_Mutation_p.P2359L	p.P2359L	NM_178140	NP_835260	O15018	PDZD2_HUMAN			20	7464	+			2359					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.7076C>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261029	0.23051	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.08193	3.12;3.12	5.06	5.06	0.68205	.	0.128356	0.36167	N	0.002747	T	0.11281	0.0275	M	0.64997	1.995	0.20975	N	0.999818	P	0.43094	0.799	B	0.35859	0.212	T	0.15752	-1.0426	10	0.62326	D	0.03	.	15.9285	0.79639	0.0:1.0:0.0:0.0	.	2359	O15018	PDZD2_HUMAN	L	2359;2160;2359	ENSP00000402033:P2359L;ENSP00000282493:P2359L	ENSP00000282493:P2359L	P	+	2	0	PDZD2	32126387	0.020000	0.18652	0.005000	0.12908	0.009000	0.06853	2.143000	0.42187	2.338000	0.79540	0.561000	0.74099	CCA		PASS	0.577	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			6	44	6	44	---	---	---	---
GDNF	2668	broad.mit.edu	37	5	37816091	37816091	+	Missense_Mutation	SNP	G	G	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr5:37816091G>T	ENST00000326524.2	-	3	497	c.298C>A	c.(298-300)Cca>Aca	p.P100T	GDNF_ENST00000344622.4_Missense_Mutation_p.P74T|GDNF_ENST00000427982.1_Missense_Mutation_p.P117T|GDNF_ENST00000381826.4_Missense_Mutation_p.P91T|GDNF_ENST00000515058.1_Missense_Mutation_p.P74T	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	100					adult locomotory behavior (GO:0008344)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|enteric nervous system development (GO:0048484)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|metanephros development (GO:0001656)|mRNA stabilization (GO:0048255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|organ induction (GO:0001759)|peristalsis (GO:0030432)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|postganglionic parasympathetic nervous system development (GO:0021784)|postsynaptic membrane organization (GO:0001941)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of morphogenesis of a branching structure (GO:0060688)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|ureteric bud formation (GO:0060676)	extracellular region (GO:0005576)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.P117T(1)|p.P100T(1)		NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					GAATTCTCTGGGTTGGCAGCT	0.478																																						uc011cpi.1																			2	Substitution - Missense(2)		lung(2)		0						c.(298-300)CCA>ACA		glial cell derived neurotrophic factor isoform 1							83.0	91.0	88.0					5																	37816091		2203	4300	6503	SO:0001583	missense	2668				adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity	g.chr5:37816091G>T		CCDS3922.1, CCDS3923.1, CCDS54845.1, CCDS54846.1, CCDS75237.1	5p13.1-p12	2014-01-30			ENSG00000168621	ENSG00000168621		"""Endogenous ligands"""	4232	protein-coding gene	gene with protein product	"""astrocyte-derived trophic factor"", ""glial cell line derived neurotrophic factor"", ""glial derived neurotrophic factor"""	600837				8493557	Standard	NM_199231		Approved	ATF1, ATF2, HFB1-GDNF	uc011cpg.2	P39905	OTTHUMG00000090809	ENST00000326524.2:c.298C>A	5.37:g.37816091G>T	ENSP00000317145:p.Pro100Thr					GDNF_uc011cpc.1_Missense_Mutation_p.P22T|GDNF_uc011cpd.1_Missense_Mutation_p.P48T|GDNF_uc011cpe.1_Missense_Mutation_p.P74T|GDNF_uc011cpf.1_Missense_Mutation_p.P74T|GDNF_uc011cpg.1_Missense_Mutation_p.P117T|GDNF_uc011cph.1_Missense_Mutation_p.P91T	p.P100T	NM_000514	NP_000505	P39905	GDNF_HUMAN			3	498	-	all_lung(31;0.00118)		100					B7WPK7|O95448|O95449|O95986|Q6FH33|Q96L44|Q9UD32|Q9UD33|Q9UMV2|Q9UP67|Q9UP97	Missense_Mutation	SNP	ENST00000326524.2	37	c.298C>A	CCDS3922.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.455950	0.01071	.	.	ENSG00000168621	ENST00000326524;ENST00000344622;ENST00000515058;ENST00000427982;ENST00000381826	D;D;D;D;D	0.92752	-3.05;-3.08;-3.08;-3.08;-3.1	5.68	3.81	0.43845	Transforming growth factor-beta, C-terminal (1);	0.334377	0.35040	N	0.003496	T	0.81772	0.4893	L	0.34521	1.04	0.28575	N	0.910423	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.06405	0.001;0.0;0.002;0.001	T	0.63629	-0.6594	10	0.07325	T	0.83	-2.7035	3.0215	0.06077	0.0829:0.2223:0.3796:0.3152	.	100;91;117;74	P39905;P39905-4;P39905-3;P39905-2	GDNF_HUMAN;.;.;.	T	100;74;74;117;91	ENSP00000317145:P100T;ENSP00000339703:P74T;ENSP00000425928:P74T;ENSP00000409007:P117T;ENSP00000371248:P91T	ENSP00000317145:P100T	P	-	1	0	GDNF	37851848	1.000000	0.71417	0.946000	0.38457	0.517000	0.34286	0.758000	0.26447	2.689000	0.91719	0.655000	0.94253	CCA		PASS	0.478	GDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207606.1	NM_000514		21	74	21	74	---	---	---	---
EGFLAM	133584	broad.mit.edu	37	5	38352408	38352408	+	Nonsense_Mutation	SNP	C	C	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr5:38352408C>T	ENST00000354891.3	+	5	866	c.520C>T	c.(520-522)Cag>Tag	p.Q174*	EGFLAM_ENST00000322350.5_Nonsense_Mutation_p.Q174*	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	174	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.Q174*(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CGCCCCTATTCAGTACTATTC	0.522																																					Colon(62;485 1295 3347 17454)	uc003jlc.1																			2	Substitution - Nonsense(2)		lung(2)	pancreas(3)|skin(3)|ovary(1)	7						c.(520-522)CAG>TAG		EGF-like, fibronectin type III and laminin G							119.0	118.0	118.0					5																	38352408		2203	4300	6503	SO:0001587	stop_gained	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38352408C>T	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.520C>T	5.37:g.38352408C>T	ENSP00000346964:p.Gln174*					EGFLAM_uc003jlb.1_Nonsense_Mutation_p.Q174*	p.Q174*	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			5	844	+	all_lung(31;0.000385)		174			Fibronectin type-III 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Nonsense_Mutation	SNP	ENST00000354891.3	37	c.520C>T	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	C	32	5.188247	0.94923	.	.	ENSG00000164318	ENST00000354891;ENST00000322350	.	.	.	4.73	3.85	0.44370	.	0.173271	0.39834	N	0.001250	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-14.1934	10.8869	0.46972	0.0:0.809:0.191:0.0	.	.	.	.	X	174	.	ENSP00000313084:Q174X	Q	+	1	0	EGFLAM	38388165	1.000000	0.71417	0.999000	0.59377	0.596000	0.36781	3.797000	0.55514	0.971000	0.38288	-0.300000	0.09419	CAG		PASS	0.522	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		13	90	13	90	---	---	---	---
C7	730	broad.mit.edu	37	5	40981635	40981635	+	Missense_Mutation	SNP	C	C	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr5:40981635C>A	ENST00000313164.9	+	18	2851	c.2492C>A	c.(2491-2493)tCt>tAt	p.S831Y		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	831	Factor I module (FIM) 2.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.S831Y(1)					Ovarian(839;0.0112)				CAGAGCATCTCTGTCACCAGC	0.572																																						uc003jmh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2491-2493)TCT>TAT		complement component 7 precursor							60.0	62.0	61.0					5																	40981635		2089	4222	6311	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40981635C>A	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2492C>A	5.37:g.40981635C>A	ENSP00000322061:p.Ser831Tyr						p.S831Y	NM_000587	NP_000578	P10643	CO7_HUMAN			18	2606	+		Ovarian(839;0.0112)	831			Complement control factor I module 2.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.2492C>A	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	C	6.296	0.422782	0.11928	.	.	ENSG00000112936	ENST00000313164	T	0.64618	-0.11	5.83	4.05	0.47172	Factor I / membrane attack complex (1);	0.763427	0.12526	N	0.461186	T	0.53449	0.1797	L	0.56769	1.78	0.09310	N	1	P	0.37663	0.604	B	0.35770	0.21	T	0.41484	-0.9506	10	0.27785	T	0.31	-0.1832	5.9584	0.19286	0.2721:0.5875:0.0:0.1403	.	831	P10643	CO7_HUMAN	Y	831	ENSP00000322061:S831Y	ENSP00000322061:S831Y	S	+	2	0	C7	41017392	0.002000	0.14202	0.001000	0.08648	0.024000	0.10985	0.394000	0.20834	0.802000	0.34089	0.563000	0.77884	TCT		PASS	0.572	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			3	9	3	9	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82868261	82868261	+	Missense_Mutation	SNP	G	G	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr5:82868261G>T	ENST00000265077.3	+	13	10327	c.9762G>T	c.(9760-9762)caG>caT	p.Q3254H	VCAN_ENST00000512590.2_Missense_Mutation_p.Q1452H|VCAN_ENST00000343200.5_Missense_Mutation_p.Q2267H|VCAN_ENST00000502527.2_Missense_Mutation_p.Q513H|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Missense_Mutation_p.Q1500H|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3254	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.Q3254H(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GACCCAACCAGCCAGACAGCT	0.423																																						uc003kii.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(9760-9762)CAG>CAT		versican isoform 1 precursor							134.0	133.0	134.0					5																	82868261		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82868261G>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9762G>T	5.37:g.82868261G>T	ENSP00000265077:p.Gln3254His					VCAN_uc003kij.3_Missense_Mutation_p.Q2267H|VCAN_uc010jau.2_Missense_Mutation_p.Q1500H|VCAN_uc003kik.3_Missense_Mutation_p.Q513H|VCAN_uc003kil.3_Missense_Mutation_p.Q1918H	p.Q3254H	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	13	10118	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	3254			C-type lectin.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.9762G>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657248	0.67586	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000502527	T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06	5.94	2.14	0.27477	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.50627	D	0.000114	T	0.49898	0.1584	M	0.91663	3.23	0.45250	D	0.998254	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.999;1.0	T	0.50816	-0.8783	10	0.87932	D	0	.	8.8713	0.35318	0.3532:0.0:0.6468:0.0	.	1500;513;2267;3254	P13611-3;P13611-4;P13611-2;P13611	.;.;.;CSPG2_HUMAN	H	3254;2267;1500;1452;513	ENSP00000265077:Q3254H;ENSP00000340062:Q2267H;ENSP00000342768:Q1500H;ENSP00000425959:Q1452H;ENSP00000421362:Q513H	ENSP00000265077:Q3254H	Q	+	3	2	VCAN	82904017	1.000000	0.71417	0.999000	0.59377	0.921000	0.55340	1.777000	0.38604	0.106000	0.17784	0.591000	0.81541	CAG		PASS	0.423	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		29	60	29	60	---	---	---	---
CDC23	8697	broad.mit.edu	37	5	137524751	137524751	+	Silent	SNP	G	G	C			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr5:137524751G>C	ENST00000394886.2	-	16	1740	c.1710C>G	c.(1708-1710)ccC>ccG	p.P570P		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	570					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)	p.P564P(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTAGGAAAAAGGGAGCAGGCA	0.527																																						uc003lcl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1708-1710)CCC>CCG		cell division cycle protein 23							205.0	185.0	192.0					5																	137524751		2203	4300	6503	SO:0001819	synonymous_variant	8697				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137524751G>C	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1710C>G	5.37:g.137524751G>C							p.P570P	NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		16	1741	-			570					A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Silent	SNP	ENST00000394886.2	37	c.1710C>G	CCDS4200.2																																																																																				PASS	0.527	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			6	22	6	22	---	---	---	---
GRPEL2	134266	broad.mit.edu	37	5	148730726	148730726	+	Missense_Mutation	SNP	G	G	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr5:148730726G>T	ENST00000329271.3	+	4	669	c.559G>T	c.(559-561)Ggt>Tgt	p.G187C	GRPEL2_ENST00000507562.1_3'UTR|GRPEL2-AS1_ENST00000521295.1_RNA|GRPEL2_ENST00000416916.2_3'UTR	NM_152407.3	NP_689620.2	Q8TAA5	GRPE2_HUMAN	GrpE-like 2, mitochondrial (E. coli)	187					cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	adenyl-nucleotide exchange factor activity (GO:0000774)	p.G187C(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGCCAGCTGGTGTTGGGGT	0.527																																						uc003lqj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(559-561)GGT>TGT		GrpE-like 2, mitochondrial precursor							131.0	124.0	126.0					5																	148730726		2203	4300	6503	SO:0001583	missense	134266				protein folding	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity	g.chr5:148730726G>T	AL832325	CCDS4295.1	5q33.1	2008-02-05			ENSG00000164284	ENSG00000164284			21060	protein-coding gene	gene with protein product							Standard	NM_152407		Approved	DKFZp451C205, Mt-GrpE#2, FLJ23713	uc003lqj.3	Q8TAA5	OTTHUMG00000130048	ENST00000329271.3:c.559G>T	5.37:g.148730726G>T	ENSP00000329558:p.Gly187Cys					GRPEL2_uc011dca.1_3'UTR	p.G187C	NM_152407	NP_689620	Q8TAA5	GRPE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	685	+			187					B4DFA6|Q49AJ6	Missense_Mutation	SNP	ENST00000329271.3	37	c.559G>T	CCDS4295.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016623	0.93404	.	.	ENSG00000164284	ENST00000329271	.	.	.	5.91	5.91	0.95273	GrpE nucleotide exchange factor, head (2);	0.207319	0.41712	D	0.000834	T	0.66025	0.2748	L	0.54323	1.7	0.80722	D	1	D	0.61697	0.99	P	0.50791	0.65	T	0.67110	-0.5753	9	0.62326	D	0.03	-18.0841	20.3502	0.98811	0.0:0.0:1.0:0.0	.	187	Q8TAA5	GRPE2_HUMAN	C	187	.	ENSP00000329558:G187C	G	+	1	0	GRPEL2	148710919	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.855000	0.86950	2.807000	0.96579	0.650000	0.86243	GGT		PASS	0.527	GRPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252327.1	NM_152407		23	62	23	62	---	---	---	---
MYOZ3	91977	broad.mit.edu	37	5	150042512	150042512	+	Silent	SNP	C	C	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr5:150042512C>A	ENST00000297130.4	+	2	208	c.9C>A	c.(7-9)ccC>ccA	p.P3P	MYOZ3_ENST00000517768.1_Silent_p.P3P	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2			myozenin 3									p.P3P(1)		large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGATGATCCCCAAGGAGCAGA	0.572																																						uc003lss.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(7-9)CCC>CCA		myozenin 3							75.0	73.0	74.0					5																	150042512		2203	4300	6503	SO:0001819	synonymous_variant	91977					sarcomere	protein binding	g.chr5:150042512C>A	AF480443	CCDS4309.1	5q33.2	2008-07-18			ENSG00000164591	ENSG00000164591			18565	protein-coding gene	gene with protein product	"""calsarcin 3"", ""FATZ related protein 3"""	610735				11842093	Standard	NM_001122853		Approved	CS-3, CS3, FRP3	uc003lsr.3	Q8TDC0	OTTHUMG00000130077	ENST00000297130.4:c.9C>A	5.37:g.150042512C>A						MYOZ3_uc003lsr.2_Silent_p.P3P	p.P3P	NM_001122853	NP_001116325	Q8TDC0	MYOZ3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	596	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	3						Silent	SNP	ENST00000297130.4	37	c.9C>A	CCDS4309.1																																																																																				PASS	0.572	MYOZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252369.1	NM_001122853		14	19	14	19	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150885463	150885463	+	Missense_Mutation	SNP	G	G	C			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr5:150885463G>C	ENST00000261800.5	-	23	12725	c.12713C>G	c.(12712-12714)cCt>cGt	p.P4238R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4238					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P4238R(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGTGGGAGAGGTGCCCGCTT	0.627																																						uc003lue.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(12712-12714)CCT>CGT		FAT tumor suppressor 2 precursor							100.0	116.0	111.0					5																	150885463		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150885463G>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.12713C>G	5.37:g.150885463G>C	ENSP00000261800:p.Pro4238Arg					GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.P845R	p.P4238R	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		23	12726	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	4238			Cytoplasmic (Potential).		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.12713C>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775028	0.90108	.	.	ENSG00000086570	ENST00000261800	T	0.73047	-0.71	5.02	5.02	0.67125	.	0.000000	0.64402	D	0.000011	D	0.83866	0.5347	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.91635	0.999;0.893	D	0.85995	0.1491	10	0.87932	D	0	.	18.3491	0.90331	0.0:0.0:1.0:0.0	.	4238;1343	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	R	4238	ENSP00000261800:P4238R	ENSP00000261800:P4238R	P	-	2	0	FAT2	150865656	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.132000	0.94455	2.329000	0.79093	0.561000	0.74099	CCT		PASS	0.627	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		30	97	30	97	---	---	---	---
PROP1	5626	broad.mit.edu	37	5	177422884	177422884	+	Silent	SNP	G	G	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr5:177422884G>T	ENST00000308304.2	-	1	359	c.51C>A	c.(49-51)gtC>gtA	p.V17V		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	17					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.V17V(1)		endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTTGCTGCCGACTCGCCCCT	0.632																																						uc003mif.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(49-51)GTC>GTA		PROP paired-like homeobox 1							81.0	73.0	75.0					5																	177422884		2203	4300	6503	SO:0001819	synonymous_variant	5626				central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:177422884G>T	AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"""Homeoboxes / PRD class"""	9455	protein-coding gene	gene with protein product		601538	"""prophet of Pit1, paired-like homeodomain transcription factor"""			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.51C>A	5.37:g.177422884G>T							p.V17V	NM_006261	NP_006252	O75360	PROP1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	360	-	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	17						Silent	SNP	ENST00000308304.2	37	c.51C>A	CCDS4430.1																																																																																				PASS	0.632	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	NM_006261		9	24	9	24	---	---	---	---
MAML1	9794	broad.mit.edu	37	5	179193310	179193311	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr5:179193310_179193311GG>TT	ENST00000292599.3	+	2	1562_1563	c.1299_1300GG>TT	c.(1297-1302)acGGgg>acTTgg	p.G434W	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)									p.G471W(2)|p.G434W(2)|p.T433T(1)|p.T470T(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCAGCAGACGGGGCCCTCCCA	0.599																																						uc003mkm.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	lung(4)|ovary(2)	6						c.(1297-1299)ACG>ACT|c.(1300-1302)GGG>TGG		mastermind-like 1																																				SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179193310G>T|g.chr5:179193311G>T	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		Exception_encountered	5.37:g.179193310_179193311delinsTT	ENSP00000292599:p.Gly434Trp					MAML1_uc003mkn.1_Silent_p.T433T|MAML1_uc003mkn.1_Missense_Mutation_p.G434W	p.T433T|p.G434W	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1562|1563	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	433|434						Silent|Missense_Mutation	SNP	ENST00000292599.3	37	c.1299G>T|c.1300G>T	CCDS34315.1																																																																																				PASS	0.599	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		21	61|62	21	61	---	---	---	---
BTNL3	10917	broad.mit.edu	37	5	180432609	180432609	+	Missense_Mutation	SNP	C	C	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr5:180432609C>A	ENST00000342868.6	+	8	1322	c.1138C>A	c.(1138-1140)Ctc>Atc	p.L380I	RNU6-1036P_ENST00000383959.1_RNA	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	380	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)		p.L380I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GTATTGGGTCCTCAGACTGAC	0.502																																						uc003mmr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1138-1140)CTC>ATC		butyrophilin-like 3 precursor							166.0	183.0	178.0					5																	180432609		2164	4251	6415	SO:0001583	missense	10917				lipid metabolic process	integral to membrane		g.chr5:180432609C>A	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.1138C>A	5.37:g.180432609C>A	ENSP00000341787:p.Leu380Ile					BTNL3_uc010jlp.2_Missense_Mutation_p.L165I	p.L380I	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		8	1266	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	380			B30.2/SPRY.|Cytoplasmic (Potential).		Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	37	c.1138C>A	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	C	2.560	-0.302072	0.05495	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.70164	-0.46	2.82	-5.64	0.02466	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.54240	0.1846	L	0.28344	0.845	0.09310	N	1	P;P	0.52692	0.955;0.474	P;B	0.52424	0.698;0.209	T	0.55101	-0.8193	9	0.44086	T	0.13	.	3.2183	0.06706	0.0992:0.3555:0.3525:0.1927	.	346;380	C9JDC2;Q6UXE8	.;BTNL3_HUMAN	I	380;346	ENSP00000341787:L380I	ENSP00000341787:L380I	L	+	1	0	BTNL3	180365215	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.889000	0.00710	-3.376000	0.00176	-1.076000	0.02234	CTC		PASS	0.502	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		8	33	8	33	---	---	---	---
PTCHD4	442213	broad.mit.edu	37	6	47846462	47846462	+	Missense_Mutation	SNP	C	C	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr6:47846462C>A	ENST00000339488.4	-	3	2151	c.2118G>T	c.(2116-2118)tgG>tgT	p.W706C		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	706						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)	p.W706C(1)									TGTCGACGTTCCATAATGTCA	0.438																																						uc011dwm.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2065-2067)TGG>TGT		hypothetical protein LOC442213							101.0	95.0	97.0					6																	47846462		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846462C>A		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.2118G>T	6.37:g.47846462C>A	ENSP00000341914:p.Trp706Cys					C6orf138_uc011dwn.1_Missense_Mutation_p.W453C	p.W689C	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			3	2152	-			706			Helical; (Potential).		B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.2067G>T	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166371	0.57476	.	.	ENSG00000244694	ENST00000339488	D	0.97089	-4.24	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.98295	0.9435	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98858	1.0761	10	0.87932	D	0	.	20.3052	0.98627	0.0:1.0:0.0:0.0	.	706	Q6ZW05	CF138_HUMAN	C	706	ENSP00000341914:W706C	ENSP00000341914:W706C	W	-	3	0	C6orf138	47954421	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.814000	0.96858	0.650000	0.86243	TGG		PASS	0.438	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		8	25	8	25	---	---	---	---
TRAM2	9697	broad.mit.edu	37	6	52370454	52370454	+	Missense_Mutation	SNP	C	C	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr6:52370454C>T	ENST00000182527.3	-	9	817	c.818G>A	c.(817-819)cGc>cAc	p.R273H	EFHC1_ENST00000433625.2_Intron	NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN	translocation associated membrane protein 2	273	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				collagen biosynthetic process (GO:0032964)|protein transport (GO:0015031)	integral component of membrane (GO:0016021)		p.R273H(1)		endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					GTTTTCCATGCGAGCCAGTCC	0.552																																						uc003paq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(817-819)CGC>CAC		translocation-associated membrane protein 2							113.0	112.0	112.0					6																	52370454		2203	4300	6503	SO:0001583	missense	9697				collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding	g.chr6:52370454C>T	D31762	CCDS34477.1	6p21.1-p12	2008-02-05			ENSG00000065308	ENSG00000065308			16855	protein-coding gene	gene with protein product		608485				7584044, 10594243	Standard	NM_012288		Approved	KIAA0057	uc003paq.3	Q15035	OTTHUMG00000014850	ENST00000182527.3:c.818G>A	6.37:g.52370454C>T	ENSP00000182527:p.Arg273His					EFHC1_uc011dwv.1_Intron|TRAM2_uc003par.1_RNA	p.R273H	NM_012288	NP_036420	Q15035	TRAM2_HUMAN			9	967	-	Lung NSC(77;0.109)		273			TLC.		A8K6T6	Missense_Mutation	SNP	ENST00000182527.3	37	c.818G>A	CCDS34477.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652428	0.88056	.	.	ENSG00000065308	ENST00000182527	D	0.85088	-1.94	5.44	5.44	0.79542	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	T	0.81413	0.4817	M	0.79475	2.455	0.80722	D	1	P	0.38642	0.641	B	0.33521	0.165	D	0.83720	0.0192	10	0.46703	T	0.11	.	19.2607	0.93967	0.0:1.0:0.0:0.0	.	273	Q15035	TRAM2_HUMAN	H	273	ENSP00000182527:R273H	ENSP00000182527:R273H	R	-	2	0	TRAM2	52478413	1.000000	0.71417	0.978000	0.43139	0.995000	0.86356	7.707000	0.84623	2.576000	0.86940	0.561000	0.74099	CGC		PASS	0.552	TRAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040910.1	NM_012288		17	63	17	63	---	---	---	---
PRIM2	5558	broad.mit.edu	37	6	57512544	57512544	+	3'UTR	SNP	G	G	C			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr6:57512544G>C	ENST00000389488.2	+	0	1459				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.G458R(2)|p.G458S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TCTAAATGGTGGTAAAGACAT	0.388																																						uc003pdx.2																			3	Substitution - Missense(3)		lung(3)		0						c.(1372-1374)GGT>CGT		DNA primase polypeptide 2							297.0	267.0	277.0					6																	57512544		1955	4160	6115	SO:0001624	3_prime_UTR_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57512544G>C		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1456G>C	6.37:g.57512544G>C							p.G458R	NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	15	1459	+			458					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	ENST00000389488.2	37	c.1372G>C																																																																																					PASS	0.388	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3	NM_000947		13	147	13	147	---	---	---	---
EYS	346007	broad.mit.edu	37	6	66044997	66044997	+	Nonsense_Mutation	SNP	G	G	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr6:66044997G>A	ENST00000370621.3	-	11	2168	c.1642C>T	c.(1642-1644)Cag>Tag	p.Q548*	EYS_ENST00000393380.2_Nonsense_Mutation_p.Q548*|EYS_ENST00000370618.3_Nonsense_Mutation_p.Q548*|EYS_ENST00000342421.5_Nonsense_Mutation_p.Q548*|EYS_ENST00000503581.1_Nonsense_Mutation_p.Q548*|EYS_ENST00000370616.2_Nonsense_Mutation_p.Q548*			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	548					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.Q548*(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CGATATTCCTGACTGTCTTCT	0.358																																						uc011dxu.1																			2	Substitution - Nonsense(2)		lung(2)	lung(4)|ovary(1)|skin(1)	6						c.(1642-1644)CAG>TAG		eyes shut homolog isoform 1							162.0	148.0	153.0					6																	66044997		2203	4300	6503	SO:0001587	stop_gained	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66044997G>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1642C>T	6.37:g.66044997G>A	ENSP00000359655:p.Gln548*					EYS_uc003peq.2_Nonsense_Mutation_p.Q548*|EYS_uc003per.1_Nonsense_Mutation_p.Q548*	p.Q548*	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			11	2180	-			548					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Nonsense_Mutation	SNP	ENST00000370621.3	37	c.1642C>T		.	.	.	.	.	.	.	.	.	.	g	21.6	4.175345	0.78564	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	.	.	.	3.8	-1.52	0.08637	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	5.2321	0.15428	0.1264:0.0:0.3364:0.5372	.	.	.	.	X	548	.	ENSP00000341818:Q548X	Q	-	1	0	EYS	66101718	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.573000	0.05874	-0.176000	0.10707	-0.500000	0.04577	CAG		PASS	0.358	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		10	43	10	43	---	---	---	---
EYS	346007	broad.mit.edu	37	6	66115197	66115197	+	Missense_Mutation	SNP	C	C	A	rs368629674		TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr6:66115197C>A	ENST00000370621.3	-	6	1452	c.926G>T	c.(925-927)tGc>tTc	p.C309F	EYS_ENST00000393380.2_Missense_Mutation_p.C309F|EYS_ENST00000370618.3_Missense_Mutation_p.C309F|EYS_ENST00000342421.5_Missense_Mutation_p.C309F|EYS_ENST00000503581.1_Missense_Mutation_p.C309F|EYS_ENST00000370616.2_Missense_Mutation_p.C309F			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	309					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.C309F(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GCTATTTGGGCAAATTCCTCT	0.373																																						uc011dxu.1																			2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(1)|skin(1)	6						c.(925-927)TGC>TTC		eyes shut homolog isoform 1							157.0	163.0	161.0					6																	66115197		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66115197C>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.926G>T	6.37:g.66115197C>A	ENSP00000359655:p.Cys309Phe					EYS_uc003peq.2_Missense_Mutation_p.C309F|EYS_uc003per.1_Missense_Mutation_p.C309F	p.C309F	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			6	1464	-			309					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.926G>T		.	.	.	.	.	.	.	.	.	.	C	11.18	1.562961	0.27915	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.95342	-1.89;-1.87;-1.87;-3.68;-3.62;-3.62	4.89	1.23	0.21249	.	.	.	.	.	D	0.92381	0.7582	H	0.94503	3.545	0.09310	N	1	P;P;P	0.42620	0.688;0.688;0.785	B;B;B	0.40534	0.161;0.332;0.178	D	0.87579	0.2483	9	0.87932	D	0	.	7.5848	0.27987	0.0:0.6705:0.0:0.3295	.	309;309;309	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	F	309	ENSP00000424243:C309F;ENSP00000359655:C309F;ENSP00000359650:C309F;ENSP00000377042:C309F;ENSP00000341818:C309F;ENSP00000359652:C309F	ENSP00000341818:C309F	C	-	2	0	EYS	66171918	0.739000	0.28196	0.000000	0.03702	0.394000	0.30568	1.373000	0.34272	-0.068000	0.12953	0.467000	0.42956	TGC		PASS	0.373	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		13	132	13	132	---	---	---	---
TTK	7272	broad.mit.edu	37	6	80745093	80745093	+	Missense_Mutation	SNP	G	G	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr6:80745093G>T	ENST00000369798.2	+	16	1994	c.1883G>T	c.(1882-1884)tGg>tTg	p.W628L	TTK_ENST00000509894.1_Missense_Mutation_p.W627L|TTK_ENST00000230510.3_Missense_Mutation_p.W627L	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	628	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.W628L(1)|p.W612L(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AAGAGTTACTGGAAAAATATG	0.318																																						uc003pjc.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11						c.(1882-1884)TGG>TTG		TTK protein kinase							101.0	98.0	99.0					6																	80745093		2203	4300	6503	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80745093G>T		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1883G>T	6.37:g.80745093G>T	ENSP00000358813:p.Trp628Leu					TTK_uc003pjb.3_Missense_Mutation_p.W627L	p.W628L	NM_003318	NP_003309	P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	16	1957	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	628			Protein kinase.		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.1883G>T	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259789	0.80246	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.70986	-0.53;-0.53;-0.53	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.114072	0.64402	D	0.000004	T	0.65080	0.2657	N	0.10707	0.03	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.985;0.999	T	0.72714	-0.4210	10	0.45353	T	0.12	.	18.3933	0.90490	0.0:0.0:1.0:0.0	.	628;627	P33981;A8K8U5	TTK_HUMAN;.	L	627;627;628	ENSP00000422936:W627L;ENSP00000230510:W627L;ENSP00000358813:W628L	ENSP00000230510:W627L	W	+	2	0	TTK	80801812	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.357000	0.97099	2.586000	0.87340	0.467000	0.42956	TGG		PASS	0.318	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			15	49	15	49	---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136596829	136596829	+	Missense_Mutation	SNP	A	A	C			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr6:136596829A>C	ENST00000531224.1	-	6	1945	c.1693T>G	c.(1693-1695)Ttg>Gtg	p.L565V	BCLAF1_ENST00000353331.4_Missense_Mutation_p.L563V|BCLAF1_ENST00000527759.1_Missense_Mutation_p.L563V|BCLAF1_ENST00000527536.1_Missense_Mutation_p.L565V|BCLAF1_ENST00000392348.2_Missense_Mutation_p.L563V|BCLAF1_ENST00000530767.1_Missense_Mutation_p.L392V	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	565					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.L565V(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTTTAGTCAAGGAAGCAGGT	0.378																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1693-1695)TTG>GTG		BCL2-associated transcription factor 1 isoform							118.0	112.0	114.0					6																	136596829		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136596829A>C	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1693T>G	6.37:g.136596829A>C	ENSP00000435210:p.Leu565Val					BCLAF1_uc003qgw.1_Missense_Mutation_p.L392V|BCLAF1_uc003qgy.1_Missense_Mutation_p.L563V|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.L563V	p.L565V	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	6	1946	-	Colorectal(23;0.24)		565					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1693T>G	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.878754	0.51801	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26	5.61	5.61	0.85477	.	0.000000	0.51477	D	0.000090	T	0.27063	0.0663	M	0.64170	1.965	0.80722	D	1	D;D;D;D	0.76494	0.99;0.999;0.99;0.974	D;D;D;D	0.79784	0.987;0.993;0.987;0.953	T	0.02909	-1.1095	10	0.66056	D	0.02	-3.1089	10.4525	0.44531	0.9272:0.0:0.0728:0.0	.	563;563;565;392	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	V	565;563;565;392;563;563;565	ENSP00000435210:L565V;ENSP00000229446:L563V;ENSP00000435441:L565V;ENSP00000436501:L392V;ENSP00000434826:L563V;ENSP00000376159:L563V;ENSP00000431734:L565V	ENSP00000229446:L563V	L	-	1	2	BCLAF1	136638522	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.781000	0.47750	2.263000	0.75096	0.377000	0.23210	TTG		PASS	0.378	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		5	115	5	115	---	---	---	---
TCP1	6950	broad.mit.edu	37	6	160200659	160200659	+	Splice_Site	SNP	C	C	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr6:160200659C>T	ENST00000321394.7	-	11	1734	c.1454G>A	c.(1453-1455)tGg>tAg	p.W485*	TCP1_ENST00000392168.2_Splice_Site_p.W330*|SNORA20_ENST00000384662.1_RNA|TCP1_ENST00000420894.2_Intron|TCP1_ENST00000544255.1_Splice_Site_p.W261*	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	485					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.W485*(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CCATGCTTACCATTTTAGATT	0.403																																						uc003qsr.2																			1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(1453-1455)TGG>TAG		T-complex protein 1 isoform a							108.0	107.0	107.0					6																	160200659		2203	4300	6503	SO:0001630	splice_region_variant	6950				'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding	g.chr6:160200659C>T	X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"""Heat Shock Proteins / Chaperonins"""	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.1454+1G>A	6.37:g.160200659C>T						TCP1_uc003qss.2_Nonsense_Mutation_p.W330*|TCP1_uc010kjz.2_Intron|TCP1_uc003qst.2_Nonsense_Mutation_p.W261*	p.W485*	NM_030752	NP_110379	P17987	TCPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	11	1689	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	485					E1P5B2|Q15556|Q5TCM3	Nonsense_Mutation	SNP	ENST00000321394.7	37	c.1454G>A	CCDS5269.1	.	.	.	.	.	.	.	.	.	.	C	42	9.361586	0.99148	.	.	ENSG00000120438	ENST00000321394;ENST00000544255;ENST00000392168	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0485	20.2337	0.98353	0.0:1.0:0.0:0.0	.	.	.	.	X	485;261;330	.	ENSP00000317334:W485X	W	-	2	0	TCP1	160120649	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.350000	0.79385	2.791000	0.96007	0.563000	0.77884	TGG		PASS	0.403	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2	NM_030752	Nonsense_Mutation	14	113	14	113	---	---	---	---
RPS6KA2	6196	broad.mit.edu	37	6	166918101	166918101	+	Splice_Site	SNP	C	C	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr6:166918101C>A	ENST00000265678.4	-	6	683		c.e6-1		RPS6KA2_ENST00000503859.1_Splice_Site|RPS6KA2_ENST00000405189.3_Splice_Site|RPS6KA2_ENST00000366863.2_Splice_Site|RPS6KA2_ENST00000481261.2_Splice_Site|RPS6KA2_ENST00000510118.1_Splice_Site	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2						axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)	p.?(2)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TGAACATGACCTAGTAAGAAa	0.438																																						uc003qvb.1																			2	Unknown(2)		lung(2)	ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.e6-1		ribosomal protein S6 kinase, 90kDa, polypeptide							103.0	97.0	99.0					6																	166918101		2203	4300	6503	SO:0001630	splice_region_variant	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166918101C>A	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.460-1G>T	6.37:g.166918101C>A						RPS6KA2_uc011ego.1_Splice_Site_p.V65_splice|RPS6KA2_uc010kkl.1_Splice_Site_p.V65_splice|RPS6KA2_uc003qvc.1_Splice_Site_p.V162_splice|RPS6KA2_uc003qvd.1_Splice_Site_p.V179_splice	p.V154_splice	NM_021135	NP_066958	Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	6	679	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)						B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Splice_Site	SNP	ENST00000265678.4	37	c.460_splice	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998404	0.54147	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189;ENST00000507350;ENST00000512860;ENST00000507371	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.35	0.87321	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RPS6KA2	166838091	1.000000	0.71417	0.994000	0.49952	0.492000	0.33523	7.243000	0.78219	2.350000	0.79820	0.484000	0.47621	.		PASS	0.438	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135	Intron	6	45	6	45	---	---	---	---
DDC	1644	broad.mit.edu	37	7	50605613	50605614	+	Missense_Mutation	DNP	TC	TC	GA			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr7:50605613_50605614TC>GA	ENST00000444124.2	-	4	579_580	c.379_380GA>TC	c.(379-381)GAa>TCa	p.E127S	AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000431062.1_Missense_Mutation_p.E127S|DDC_ENST00000357936.5_Missense_Mutation_p.E127S|DDC_ENST00000426377.1_Intron|DDC_ENST00000380984.4_Missense_Mutation_p.E127S	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	127	2 X approximate tandem repeats.				catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)	p.E127A(2)|p.E127*(2)|p.E127S(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	CTTTGGTAGTTCCAGCATCTTC	0.564																																						uc003tpf.3																			6	Substitution - Missense(4)|Substitution - Nonsense(2)		lung(6)	ovary(2)	2						c.(379-381)GAA>GCA|c.(379-381)GAA>TAA		dopa decarboxylase (aromatic L-amino acid	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)																																			SO:0001583	missense	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50605613T>G|g.chr7:50605614C>A		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.379_380delinsGA	7.37:g.50605613_50605614delinsGA	ENSP00000403644:p.Glu127Ser					DDC_uc010kza.2_Intron|DDC_uc003tpg.3_Missense_Mutation_p.E127A|DDC_uc010kza.2_Intron|DDC_uc003tpg.3_Nonsense_Mutation_p.E127*	p.E127A|p.E127*	NM_000790	NP_000781	P20711	DDC_HUMAN			4	466|465	-	Glioma(55;0.08)|all_neural(89;0.245)		127			2.|2 X approximate tandem repeats.		C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000444124.2	37	c.380A>C|c.379G>T	CCDS5511.1																																																																																				PASS	0.564	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			13|12	18|20	12	18	---	---	---	---
TBL2	26608	broad.mit.edu	37	7	72985559	72985559	+	Missense_Mutation	SNP	C	C	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr7:72985559C>T	ENST00000305632.5	-	6	1079	c.838G>A	c.(838-840)Gcg>Acg	p.A280T	TBL2_ENST00000432538.1_Missense_Mutation_p.A244T|TBL2_ENST00000459913.1_5'UTR	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	280							poly(A) RNA binding (GO:0044822)	p.A280T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGCACAGCCGCGGAGTGGCCC	0.567																																						uc003tyh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(838-840)GCG>ACG		transducin (beta)-like 2							74.0	63.0	66.0					7																	72985559		2203	4300	6503	SO:0001583	missense	26608							g.chr7:72985559C>T	AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"""WD repeat domain containing"""	11586	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 13"""	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.838G>A	7.37:g.72985559C>T	ENSP00000307260:p.Ala280Thr					TBL2_uc011kex.1_Missense_Mutation_p.A244T|TBL2_uc010lbg.2_Missense_Mutation_p.A185T|TBL2_uc003tyi.2_Missense_Mutation_p.A115T|TBL2_uc011key.1_Missense_Mutation_p.A151T|TBL2_uc010lbh.2_Missense_Mutation_p.A185T	p.A280T	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN			6	972	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	280			WD 5.		Q9UQE2	Missense_Mutation	SNP	ENST00000305632.5	37	c.838G>A	CCDS5551.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830496	0.71258	.	.	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000432538	T;T	0.61040	0.14;0.14	5.31	5.31	0.75309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.097154	0.64402	D	0.000001	T	0.62974	0.2472	L	0.37750	1.13	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.60173	0.87;0.87	T	0.55730	-0.8095	10	0.23302	T	0.38	-13.8514	16.4892	0.84195	0.0:1.0:0.0:0.0	.	244;280	E9PF19;Q9Y4P3	.;TBL2_HUMAN	T	280;280;244	ENSP00000307260:A280T;ENSP00000413979:A244T	ENSP00000307260:A280T	A	-	1	0	TBL2	72623495	1.000000	0.71417	0.863000	0.33907	0.181000	0.23173	7.320000	0.79064	2.762000	0.94881	0.561000	0.74099	GCG		PASS	0.567	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3	NM_012453		11	22	11	22	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88965880	88965880	+	Missense_Mutation	SNP	T	T	C			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr7:88965880T>C	ENST00000333190.4	+	4	4193	c.3584T>C	c.(3583-3585)gTa>gCa	p.V1195A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1195			V -> I (in dbSNP:rs801841).				metal ion binding (GO:0046872)	p.V1195A(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GCCTCAACCGTACAGACAGTT	0.507										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(3583-3585)GTA>GCA		zinc finger protein 804B							142.0	116.0	125.0					7																	88965880		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88965880T>C	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3584T>C	7.37:g.88965880T>C	ENSP00000329638:p.Val1195Ala	HNSCC(36;0.09)					p.V1195A	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	4122	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1195					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.3584T>C	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	T	8.111	0.778899	0.16120	.	.	ENSG00000182348	ENST00000333190	T	0.06449	3.3	4.98	3.82	0.43975	.	0.541382	0.16785	N	0.199635	T	0.08980	0.0222	L	0.60455	1.87	0.09310	N	1	B	0.15719	0.014	B	0.15484	0.013	T	0.15435	-1.0437	10	0.72032	D	0.01	-2.803	10.8056	0.46516	0.0:0.0744:0.0:0.9255	.	1195	A4D1E1	Z804B_HUMAN	A	1195	ENSP00000329638:V1195A	ENSP00000329638:V1195A	V	+	2	0	ZNF804B	88803816	0.802000	0.28943	0.001000	0.08648	0.005000	0.04900	5.441000	0.66569	1.018000	0.39521	0.533000	0.62120	GTA		PASS	0.507	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		19	48	19	48	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91714871	91714871	+	Silent	SNP	T	T	C			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr7:91714871T>C	ENST00000359028.2	+	36	9132	c.8907T>C	c.(8905-8907)taT>taC	p.Y2969Y	AKAP9_ENST00000356239.3_Silent_p.Y2965Y|AKAP9_ENST00000358100.2_Silent_p.Y2915Y			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2969					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.Y2969Y(1)|p.Y2965Y(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGTCTCCCTATAGTGATGGAG	0.413			T	BRAF	papillary thyroid																																	uc003ulg.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		2	Substitution - coding silent(2)		lung(2)	breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(8893-8895)TAT>TAC		A-kinase anchor protein 9 isoform 2							105.0	104.0	104.0					7																	91714871		2203	4300	6503	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91714871T>C	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.8907T>C	7.37:g.91714871T>C						AKAP9_uc003ulf.2_Silent_p.Y2957Y|AKAP9_uc003uli.2_Silent_p.Y2588Y|AKAP9_uc003ulj.2_Silent_p.Y735Y|AKAP9_uc003ulk.2_Silent_p.Y240Y	p.Y2965Y	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		36	9120	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2969					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.8895T>C		.	.	.	.	.	.	.	.	.	.	T	3.877	-0.026697	0.07589	.	.	ENSG00000127914	ENST00000435423	.	.	.	4.9	-3.2	0.05156	.	.	.	.	.	T	0.33089	0.0851	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37549	-0.9701	4	.	.	.	.	11.0124	0.47669	0.0:0.3946:0.0:0.6054	.	.	.	.	T	110	.	.	I	+	2	0	AKAP9	91552807	0.026000	0.19158	0.000000	0.03702	0.672000	0.39443	-0.293000	0.08320	-0.674000	0.05253	0.533000	0.62120	ATA		PASS	0.413	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		7	51	7	51	---	---	---	---
CALCR	799	broad.mit.edu	37	7	93055820	93055820	+	Missense_Mutation	SNP	A	A	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr7:93055820A>T	ENST00000394441.1	-	13	1588	c.1273T>A	c.(1273-1275)Tct>Act	p.S425T	CALCR_ENST00000421592.1_Missense_Mutation_p.S441T|CALCR_ENST00000426151.1_Missense_Mutation_p.S425T|CALCR_ENST00000359558.2_Missense_Mutation_p.S459T|CALCR_ENST00000360249.4_Missense_Mutation_p.S441T	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	459					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.S459T(1)|p.S425T(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	GCGCGAGCAGAGCGGTTGGAG	0.587																																						uc003umv.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(1375-1377)TCT>ACT		calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)						68.0	73.0	72.0					7																	93055820		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	g.chr7:93055820A>T	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.1273T>A	7.37:g.93055820A>T	ENSP00000377959:p.Ser425Thr					CALCR_uc011kia.1_Missense_Mutation_p.S239T|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.S425T|CALCR_uc003umw.2_Missense_Mutation_p.S425T	p.S459T	NM_001742	NP_001733	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		15	1636	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		441			Cytoplasmic (Potential).		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.1375T>A	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	A	13.54	2.267589	0.40095	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1	4.92	-2.53	0.06326	.	.	.	.	.	T	0.30978	0.0782	L	0.47016	1.485	0.09310	N	1	P;B	0.35383	0.498;0.236	B;B	0.36666	0.23;0.081	T	0.22591	-1.0212	9	0.40728	T	0.16	.	5.0693	0.14598	0.3867:0.3223:0.291:0.0	.	459;425	F5H605;A4D1G6	.;.	T	459;441;441;425;425	ENSP00000352561:S459T;ENSP00000353385:S441T;ENSP00000399552:S441T;ENSP00000377959:S425T;ENSP00000389295:S425T	ENSP00000352561:S459T	S	-	1	0	CALCR	92893756	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.231000	0.09069	-0.479000	0.06813	0.477000	0.44152	TCT		PASS	0.587	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		21	80	21	80	---	---	---	---
IQUB	154865	broad.mit.edu	37	7	123092884	123092884	+	Silent	SNP	A	A	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr7:123092884A>T	ENST00000466202.1	-	13	2865	c.2289T>A	c.(2287-2289)ctT>ctA	p.L763L	IQUB_ENST00000324698.6_Silent_p.L763L	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	763					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)		p.L763L(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CACCATCATCAAGTATAAATG	0.403																																						uc003vkn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(2287-2289)CTT>CTA		IQ motif and ubiquitin domain containing							126.0	118.0	121.0					7																	123092884		2203	4300	6503	SO:0001819	synonymous_variant	154865							g.chr7:123092884A>T	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.2289T>A	7.37:g.123092884A>T						IQUB_uc011kny.1_Silent_p.L96L|IQUB_uc003vko.2_Silent_p.L763L|IQUB_uc010lkt.2_RNA	p.L763L	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN			13	2866	-			763					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Silent	SNP	ENST00000466202.1	37	c.2289T>A	CCDS5787.1																																																																																				PASS	0.403	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		11	31	11	31	---	---	---	---
ATP6V0A4	50617	broad.mit.edu	37	7	138429946	138429946	+	Missense_Mutation	SNP	T	T	C			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr7:138429946T>C	ENST00000310018.2	-	14	1682	c.1400A>G	c.(1399-1401)aAt>aGt	p.N467S	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.N467S|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.N467S	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	467					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.N467S(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GAAGCAGTCATTGTAGATCAA	0.483																																						uc003vuf.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1399-1401)AAT>AGT		ATPase, H+ transporting, lysosomal V0 subunit							200.0	176.0	184.0					7																	138429946		2203	4300	6503	SO:0001583	missense	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138429946T>C	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1400A>G	7.37:g.138429946T>C	ENSP00000308122:p.Asn467Ser					ATP6V0A4_uc003vug.2_Missense_Mutation_p.N467S|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.N467S	p.N467S	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN			13	1638	-			467			Helical; (Potential).		A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	c.1400A>G	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.918999	0.92249	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.89552	-2.53;-2.53;-2.53	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.95790	0.8630	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96751	0.9554	10	0.87932	D	0	-27.0411	15.9745	0.80049	0.0:0.0:0.0:1.0	.	467	Q9HBG4	VPP4_HUMAN	S	467	ENSP00000308122:N467S;ENSP00000376774:N467S;ENSP00000253856:N467S	ENSP00000308122:N467S	N	-	2	0	ATP6V0A4	138080486	1.000000	0.71417	0.966000	0.40874	0.979000	0.70002	7.924000	0.87555	2.168000	0.68352	0.533000	0.62120	AAT		PASS	0.483	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		24	60	24	60	---	---	---	---
TAS2R60	338398	broad.mit.edu	37	7	143140680	143140680	+	Missense_Mutation	SNP	G	G	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr7:143140680G>T	ENST00000332690.1	+	1	135	c.135G>T	c.(133-135)gaG>gaT	p.E45D	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	45					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E45D(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TGGGCGTGGAGTGGGTGCTAC	0.488																																						uc011ktg.1																			1	Substitution - Missense(1)		lung(1)	skin(6)	6						c.(133-135)GAG>GAT		taste receptor, type 2, member 60							258.0	232.0	240.0					7																	143140680		2203	4300	6503	SO:0001583	missense	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143140680G>T	AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.135G>T	7.37:g.143140680G>T	ENSP00000327724:p.Glu45Asp					uc003wda.2_Intron	p.E45D	NM_177437	NP_803186	P59551	T2R60_HUMAN			1	135	+	Melanoma(164;0.172)		45			Helical; Name=2; (Potential).		A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	ENST00000332690.1	37	c.135G>T	CCDS5885.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860629	0.32884	.	.	ENSG00000185899	ENST00000332690	T	0.00675	5.88	5.41	-1.65	0.08291	.	1.045230	0.07602	U	0.923852	T	0.02494	0.0076	M	0.69358	2.11	0.09310	N	1	D	0.69078	0.997	D	0.65684	0.937	T	0.42616	-0.9441	10	0.39692	T	0.17	.	6.0804	0.19938	0.4457:0.1337:0.4206:0.0	.	45	P59551	T2R60_HUMAN	D	45	ENSP00000327724:E45D	ENSP00000327724:E45D	E	+	3	2	TAS2R60	142850802	0.092000	0.21681	0.022000	0.16811	0.038000	0.13279	0.078000	0.14761	-0.222000	0.09958	0.655000	0.94253	GAG		PASS	0.488	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1			16	109	16	109	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	146818104	146818104	+	Missense_Mutation	SNP	C	C	A	rs200933217		TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr7:146818104C>A	ENST00000361727.3	+	6	1304	c.788C>A	c.(787-789)aCa>aAa	p.T263K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	263	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.T263K(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TATGGCCACACATCAGTGATG	0.507										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(787-789)ACA>AAA		cell recognition molecule Caspr2 precursor							126.0	107.0	113.0					7																	146818104		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146818104C>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.788C>A	7.37:g.146818104C>A	ENSP00000354778:p.Thr263Lys	HNSCC(39;0.1)					p.T263K	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		6	1304	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	263			Laminin G-like 1.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.788C>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061376	0.76187	.	.	ENSG00000174469	ENST00000361727	T	0.77489	-1.1	5.82	5.82	0.92795	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000006	D	0.86822	0.6025	M	0.82193	2.58	0.80722	D	1	P	0.46512	0.879	P	0.55749	0.783	D	0.84481	0.0605	10	0.29301	T	0.29	.	18.6867	0.91567	0.0:1.0:0.0:0.0	.	263	Q9UHC6	CNTP2_HUMAN	K	263	ENSP00000354778:T263K	ENSP00000354778:T263K	T	+	2	0	CNTNAP2	146449037	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.699000	0.84547	2.756000	0.94617	0.563000	0.77884	ACA		PASS	0.507	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			12	32	12	32	---	---	---	---
DPP6	1804	broad.mit.edu	37	7	154519510	154519510	+	Missense_Mutation	SNP	G	G	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr7:154519510G>T	ENST00000377770.3	+	8	937	c.796G>T	c.(796-798)Gca>Tca	p.A266S	DPP6_ENST00000404039.1_Missense_Mutation_p.A202S|DPP6_ENST00000332007.3_Missense_Mutation_p.A204S|DPP6_ENST00000427557.1_Missense_Mutation_p.A159S			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	266					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.A204S(1)|p.A266S(1)|p.A202S(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTACTACTGTGCACATGTCGG	0.388																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2																			3	Substitution - Missense(3)		lung(3)	pancreas(3)|breast(1)	4						c.(796-798)GCA>TCA		dipeptidyl-peptidase 6 isoform 1							92.0	83.0	86.0					7																	154519510		1921	4126	6047	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154519510G>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.796G>T	7.37:g.154519510G>T	ENSP00000367001:p.Ala266Ser					DPP6_uc003wli.2_Missense_Mutation_p.A202S|DPP6_uc003wlm.2_Missense_Mutation_p.A204S|DPP6_uc011kvq.1_Missense_Mutation_p.A159S	p.A266S	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		8	925	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	266			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000377770.3	37	c.796G>T		.	.	.	.	.	.	.	.	.	.	G	9.096	1.002923	0.19121	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	4.91	4.91	0.64330	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.248550	0.40640	N	0.001049	T	0.16557	0.0398	N	0.10972	0.075	0.41293	D	0.986997	B;B;B;B	0.19331	0.035;0.003;0.011;0.004	B;B;B;B	0.28305	0.088;0.022;0.038;0.038	T	0.09818	-1.0657	10	0.09843	T	0.71	-21.491	11.5916	0.50949	0.0819:0.0:0.9181:0.0	.	159;204;266;202	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	S	202;266;204;159	ENSP00000385578:A202S;ENSP00000367001:A266S;ENSP00000328226:A204S;ENSP00000397303:A159S	ENSP00000328226:A204S	A	+	1	0	DPP6	154150443	0.968000	0.33430	0.853000	0.33588	0.871000	0.50021	2.056000	0.41355	2.269000	0.75478	0.591000	0.81541	GCA		PASS	0.388	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		3	26	3	26	---	---	---	---
ADAM2	2515	broad.mit.edu	37	8	39644560	39644560	+	Nonsense_Mutation	SNP	G	G	C			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr8:39644560G>C	ENST00000265708.4	-	10	927	c.824C>G	c.(823-825)tCa>tGa	p.S275*	ADAM2_ENST00000521880.1_Nonsense_Mutation_p.S275*|ADAM2_ENST00000347580.4_Nonsense_Mutation_p.S256*|ADAM2_ENST00000379853.2_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	275	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S275*(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AACATAATTTGACTTTTCTCT	0.284																																						uc003xnj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|lung(1)	2						c.(823-825)TCA>TGA		ADAM metallopeptidase domain 2 proprotein							113.0	97.0	103.0					8																	39644560		2203	4299	6502	SO:0001587	stop_gained	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39644560G>C	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.824C>G	8.37:g.39644560G>C	ENSP00000265708:p.Ser275*					ADAM2_uc003xnk.2_Nonsense_Mutation_p.S256*|ADAM2_uc011lck.1_Nonsense_Mutation_p.S275*|ADAM2_uc003xnl.2_Intron	p.S275*	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	10	899	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	275			Extracellular (Potential).|Peptidase M12B.		P78326|Q9UQQ8	Nonsense_Mutation	SNP	ENST00000265708.4	37	c.824C>G	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630511	0.87660	.	.	ENSG00000104755	ENST00000347580;ENST00000265708;ENST00000521880	.	.	.	5.11	2.95	0.34219	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.8351	0.29365	0.2251:0.0:0.7749:0.0	.	.	.	.	X	256;275;275	.	.	S	-	2	0	ADAM2	39763717	0.126000	0.22350	0.002000	0.10522	0.821000	0.46438	2.416000	0.44644	1.149000	0.42402	0.585000	0.79938	TCA		PASS	0.284	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		7	55	7	55	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48794537	48794537	+	Missense_Mutation	SNP	C	C	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr8:48794537C>A	ENST00000314191.2	-	38	4951	c.4895G>T	c.(4894-4896)tGg>tTg	p.W1632L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.W1632L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1633					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.W1632L(1)|p.W1633L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ATCTTTGGCCCACCATGAATC	0.428								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2																			2	Substitution - Missense(2)		lung(2)	lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(4897-4899)TGG>TTG	NHEJ	protein kinase, DNA-activated, catalytic							131.0	126.0	128.0					8																	48794537		1905	4119	6024	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48794537C>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.4895G>T	8.37:g.48794537C>A	ENSP00000313420:p.Trp1632Leu					PRKDC_uc003xqj.2_Missense_Mutation_p.W1633L|PRKDC_uc011ldh.1_Intron	p.W1633L	NM_006904	NP_008835	P78527	PRKDC_HUMAN			38	4955	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1633					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.4898G>T		.	.	.	.	.	.	.	.	.	.	C	13.60	2.285846	0.40394	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.61859	0.07;0.07	5.29	5.29	0.74685	Armadillo-like helical (1);Armadillo-type fold (1);	0.073719	0.64402	D	0.000016	T	0.75539	0.3863	M	0.79475	2.455	0.80722	D	1	D;P	0.69078	0.997;0.741	P;B	0.62813	0.907;0.354	T	0.76637	-0.2886	10	0.46703	T	0.11	.	18.9285	0.92554	0.0:1.0:0.0:0.0	.	1632;1633	E7EUY0;P78527	.;PRKDC_HUMAN	L	1632	ENSP00000313420:W1632L;ENSP00000345182:W1632L	ENSP00000313420:W1632L	W	-	2	0	PRKDC	48957090	1.000000	0.71417	1.000000	0.80357	0.090000	0.18270	7.001000	0.76297	2.489000	0.83994	0.467000	0.42956	TGG		PASS	0.428	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		12	52	12	52	---	---	---	---
PREX2	80243	broad.mit.edu	37	8	69050754	69050754	+	Splice_Site	SNP	T	T	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr8:69050754T>A	ENST00000288368.4	+	33	4364		c.e33+2			NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2						adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.?(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGGTTGCAAGTAAGTAATTAG	0.279																																						uc003xxv.1																			1	Unknown(1)		lung(1)	skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.e33+2		DEP domain containing 2 isoform a							59.0	62.0	61.0					8																	69050754		2203	4294	6497	SO:0001630	splice_region_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69050754T>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.4087+2T>A	8.37:g.69050754T>A							p.N1363_splice	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			33	4114	+								B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Splice_Site	SNP	ENST00000288368.4	37	c.4087_splice	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.443971	0.83993	.	.	ENSG00000046889	ENST00000288368	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8059	0.78506	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PREX2	69213308	1.000000	0.71417	0.948000	0.38648	0.947000	0.59692	7.636000	0.83301	2.191000	0.70037	0.533000	0.62120	.		PASS	0.279	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170	Intron	21	35	21	35	---	---	---	---
LRRCC1	85444	broad.mit.edu	37	8	86044041	86044041	+	Missense_Mutation	SNP	G	G	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr8:86044041G>T	ENST00000360375.3	+	12	1962	c.1813G>T	c.(1813-1815)Gat>Tat	p.D605Y	LRRCC1_ENST00000414626.2_Missense_Mutation_p.D585Y	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	605					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D585Y(1)|p.D605Y(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TGACTTCCAGGATGCCTTAGC	0.358																																						uc003ycw.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1813-1815)GAT>TAT		sodium channel associated protein 2 isoform a							93.0	85.0	87.0					8																	86044041		1828	4083	5911	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86044041G>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.1813G>T	8.37:g.86044041G>T	ENSP00000353538:p.Asp605Tyr					LRRCC1_uc010lzz.1_RNA|LRRCC1_uc010maa.1_Missense_Mutation_p.D306Y|LRRCC1_uc003ycx.2_Missense_Mutation_p.D512Y|LRRCC1_uc003ycy.2_Missense_Mutation_p.D585Y	p.D605Y	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN			12	1967	+			605			Potential.		B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.1813G>T	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420265	0.42918	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.32515	1.45;1.45	5.64	3.82	0.43975	.	0.190581	0.25863	N	0.027804	T	0.35158	0.0922	L	0.29908	0.895	0.43499	D	0.995742	P;D;P;B	0.56968	0.955;0.978;0.955;0.1	P;P;P;B	0.56700	0.748;0.804;0.748;0.073	T	0.06023	-1.0850	10	0.51188	T	0.08	-13.1566	11.5408	0.50665	0.0677:0.1256:0.8067:0.0	.	512;585;512;605	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	Y	605;585	ENSP00000353538:D605Y;ENSP00000394695:D585Y	ENSP00000353538:D605Y	D	+	1	0	LRRCC1	86231293	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	2.243000	0.43115	0.831000	0.34780	0.650000	0.86243	GAT		PASS	0.358	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		10	36	10	36	---	---	---	---
CA3	761	broad.mit.edu	37	8	86354361	86354361	+	Missense_Mutation	SNP	G	G	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr8:86354361G>T	ENST00000285381.2	+	3	375	c.292G>T	c.(292-294)Ggc>Tgc	p.G98C	RP11-317J10.2_ENST00000521761.1_RNA|RP11-317J10.2_ENST00000517697.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	98					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|response to ethanol (GO:0045471)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|nickel cation binding (GO:0016151)|zinc ion binding (GO:0008270)	p.G98C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23					Acetazolamide(DB00819)|Zonisamide(DB00909)	TCTTCACTGGGGCTCTTCGGA	0.512																																						uc003ydj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(292-294)GGC>TGC		carbonic anhydrase III							112.0	106.0	108.0					8																	86354361		2203	4300	6503	SO:0001583	missense	761				one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	g.chr8:86354361G>T	AJ006473	CCDS6238.1	8q21.2	2012-10-02					4.2.1.1	"""Carbonic anhydrases"""	1374	protein-coding gene	gene with protein product		114750				6221502	Standard	NM_005181		Approved	Car3, CAIII	uc003ydj.3	P07451		ENST00000285381.2:c.292G>T	8.37:g.86354361G>T	ENSP00000285381:p.Gly98Cys					CA3_uc011lfv.1_Intron	p.G98C	NM_005181	NP_005172	P07451	CAH3_HUMAN			3	375	+			98					B2R867|B3KUC8|O60842	Missense_Mutation	SNP	ENST00000285381.2	37	c.292G>T	CCDS6238.1	.	.	.	.	.	.	.	.	.	.	G	34	5.394396	0.96009	.	.	ENSG00000164879	ENST00000285381;ENST00000426378	T	0.76060	-0.99	6.08	6.08	0.98989	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	D	0.93360	0.7883	H	0.99650	4.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95701	0.8749	9	.	.	.	-24.261	19.6516	0.95815	0.0:0.0:1.0:0.0	.	98	P07451	CAH3_HUMAN	C	98;82	ENSP00000285381:G98C	.	G	+	1	0	CA3	86541613	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.177000	0.94849	2.894000	0.99253	0.655000	0.94253	GGC		PASS	0.512	CA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381090.1	NM_005181		8	56	8	56	---	---	---	---
ADCY8	114	broad.mit.edu	37	8	131833626	131833626	+	Missense_Mutation	SNP	C	C	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr8:131833626C>A	ENST00000286355.5	-	13	4808	c.2716G>T	c.(2716-2718)Gcc>Tcc	p.A906S	ADCY8_ENST00000377928.3_Missense_Mutation_p.A775S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	906					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.A906S(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)			AGGAACATGGCCATCAGTAGC	0.463										HNSCC(32;0.087)																												uc003ytd.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2716-2718)GCC>TCC		adenylate cyclase 8							109.0	84.0	93.0					8																	131833626		2203	4300	6503	SO:0001583	missense	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.chr8:131833626C>A	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.2716G>T	8.37:g.131833626C>A	ENSP00000286355:p.Ala906Ser	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.A775S	p.A906S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		13	2972	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		906			Helical; (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.2716G>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387285	0.61956	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.78481	-1.18;-1.16	5.92	5.92	0.95590	.	0.107337	0.64402	D	0.000006	T	0.74527	0.3728	L	0.40543	1.245	0.44677	D	0.997666	B;B	0.28880	0.138;0.226	B;B	0.34452	0.183;0.063	T	0.68655	-0.5351	10	0.30078	T	0.28	.	19.3225	0.94248	0.0:1.0:0.0:0.0	.	775;906	E7EVL1;P40145	.;ADCY8_HUMAN	S	906;775	ENSP00000286355:A906S;ENSP00000367161:A775S	ENSP00000286355:A906S	A	-	1	0	ADCY8	131902808	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.364000	0.79526	2.822000	0.97130	0.650000	0.86243	GCC		PASS	0.463	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			11	22	11	22	---	---	---	---
ODF2	4957	broad.mit.edu	37	9	131261374	131261374	+	Missense_Mutation	SNP	A	A	G			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr9:131261374A>G	ENST00000434106.3	+	20	2633	c.2270A>G	c.(2269-2271)gAa>gGa	p.E757G	ODF2_ENST00000351030.3_Missense_Mutation_p.E752G|ODF2_ENST00000393527.3_Missense_Mutation_p.E733G|ODF2_ENST00000444119.2_Missense_Mutation_p.E733G|ODF2_ENST00000604420.1_Missense_Mutation_p.E757G|ODF2_ENST00000372807.5_Missense_Mutation_p.E752G	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	757					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)	p.E757G(1)|p.E733G(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						ACCAAAACGGAATTGAGCCAG	0.607																																						uc011mbd.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2269-2271)GAA>GGA		outer dense fiber of sperm tails 2 isoform 1							96.0	90.0	92.0					9																	131261374		2203	4300	6503	SO:0001583	missense	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131261374A>G	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.2270A>G	9.37:g.131261374A>G	ENSP00000403453:p.Glu757Gly					ODF2_uc004bvb.2_Missense_Mutation_p.E733G|ODF2_uc011mbe.1_Missense_Mutation_p.E752G|ODF2_uc004bvc.2_Missense_Mutation_p.E733G|ODF2_uc004bvd.3_Missense_Mutation_p.E757G|ODF2_uc004bvh.2_Missense_Mutation_p.E163G	p.E757G	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN			20	2581	+			757			Potential.		B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	c.2270A>G	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.966586	0.92855	.	.	ENSG00000136811	ENST00000351030;ENST00000372796;ENST00000303890	T;T;T	0.31769	1.5;1.48;1.48	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.55353	0.1915	M	0.73217	2.22	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.74674	0.976;0.967;0.984;0.976	T	0.58457	-0.7633	10	0.72032	D	0.01	-7.8725	15.482	0.75534	1.0:0.0:0.0:0.0	.	752;102;757;733	Q5BJF6-4;Q6PJQ8;Q5BJF6;Q5BJF6-3	.;.;ODFP2_HUMAN;.	G	752;757;733	ENSP00000342581:E752G;ENSP00000361882:E757G;ENSP00000307781:E733G	ENSP00000307781:E733G	E	+	2	0	ODF2	130301195	1.000000	0.71417	0.488000	0.27440	0.825000	0.46686	8.962000	0.93254	2.246000	0.74042	0.533000	0.62120	GAA		PASS	0.607	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			7	41	7	41	---	---	---	---
SORCS1	114815	broad.mit.edu	37	10	108923977	108923977	+	Missense_Mutation	SNP	G	G	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr10:108923977G>T	ENST00000263054.6	-	1	315	c.308C>A	c.(307-309)gCa>gAa	p.A103E	SORCS1_ENST00000344440.6_Missense_Mutation_p.A103E	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	103					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.A103E(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GCCGGAGCGTGCAGCAACCGC	0.706																																						uc001kym.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(307-309)GCA>GAA		SORCS receptor 1 isoform a							16.0	16.0	16.0					10																	108923977		2193	4293	6486	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108923977G>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.308C>A	10.37:g.108923977G>T	ENSP00000263054:p.Ala103Glu					SORCS1_uc001kyl.2_Missense_Mutation_p.A103E|SORCS1_uc009xxs.2_Missense_Mutation_p.A103E|SORCS1_uc001kyn.1_Missense_Mutation_p.A103E|SORCS1_uc001kyo.2_Missense_Mutation_p.A103E	p.A103E	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	1	316	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	103			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.308C>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	8.161	0.789580	0.16258	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.14766	2.48;2.5	4.45	-3.88	0.04205	.	1.072020	0.07364	N	0.884583	T	0.04770	0.0129	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.0;0.0;0.0	T	0.41980	-0.9478	9	.	.	.	0.0278	1.5225	0.02518	0.3204:0.2348:0.3254:0.1193	.	103;103;103;103;103	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	E	103	ENSP00000263054:A103E;ENSP00000345964:A103E	.	A	-	2	0	SORCS1	108913967	0.089000	0.21612	0.000000	0.03702	0.341000	0.28922	0.017000	0.13399	-0.377000	0.07930	-0.216000	0.12614	GCA		PASS	0.706	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		4	10	4	10	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1267306	1267306	+	Missense_Mutation	SNP	T	T	G			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr11:1267306T>G	ENST00000529681.1	+	31	9254	c.9196T>G	c.(9196-9198)Ttt>Gtt	p.F3066V	MUC5B_ENST00000447027.1_Missense_Mutation_p.F3069V|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3066	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.F3066V(1)|p.F3045V(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCTACCAGCTTTACACCCAT	0.592																																						uc009ycr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(10945-10947)TTT>GTT		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							180.0	198.0	192.0					11																	1267306		2102	4210	6312	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1267306T>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9196T>G	11.37:g.1267306T>G	ENSP00000436812:p.Phe3066Val					MUC5B_uc001ltb.2_Missense_Mutation_p.F3069V	p.F3649V	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	49	11071	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3066	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.10945T>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	T	2.770	-0.255991	0.05829	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.20332	2.08;2.27	1.69	0.75	0.18387	.	.	.	.	.	T	0.11281	0.0275	N	0.14661	0.345	0.09310	N	1	B;B	0.18310	0.027;0.027	B;B	0.22152	0.038;0.038	T	0.29941	-0.9995	9	0.87932	D	0	.	3.9905	0.09535	0.0:0.6017:0.0:0.3983	.	3649;3069	A7Y9J9;E9PBJ0	.;.	V	3066;3069;3038;3026	ENSP00000436812:F3066V;ENSP00000415793:F3069V	ENSP00000343037:F3038V	F	+	1	0	MUC5B	1223882	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.231000	0.09069	0.311000	0.23014	-0.416000	0.06073	TTT		PASS	0.592	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		5	92	5	92	---	---	---	---
SLC22A18	5002	broad.mit.edu	37	11	2946385	2946385	+	Silent	SNP	C	C	G			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr11:2946385C>G	ENST00000380574.1	+	11	1664	c.1233C>G	c.(1231-1233)ctC>ctG	p.L411L	SLC22A18_ENST00000441077.1_3'UTR|SLC22A18_ENST00000347936.2_Silent_p.L411L|SLC22A18_ENST00000449793.2_Silent_p.L313L|SLC22A18_ENST00000312221.5_Silent_p.L411L			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	411					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|excretion (GO:0007588)|organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|symporter activity (GO:0015293)|ubiquitin protein ligase binding (GO:0031625)	p.L411L(1)		central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCCTGGTCCTCTGGAGGAAAC	0.597																																						uc001lwx.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1231-1233)CTC>CTG		tumor suppressing subtransferable candidate 5							91.0	79.0	83.0					11																	2946385		2202	4299	6501	SO:0001819	synonymous_variant	5002				excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding	g.chr11:2946385C>G	AF028738	CCDS7740.1	11p15.5	2013-05-22	2008-01-11	2004-01-21	ENSG00000110628	ENSG00000110628		"""Solute carriers"""	10964	protein-coding gene	gene with protein product		602631	"""solute carrier family 22 (organic cation transporter), member 1-like"""	ORCTL2, BWSCR1A, IMPT1, SLC22A1L		9499412, 9520460	Standard	NM_183233		Approved	BWR1A, TSSC5, ITM	uc001lwx.3	Q96BI1	OTTHUMG00000010037	ENST00000380574.1:c.1233C>G	11.37:g.2946385C>G						SLC22A18_uc001lwy.2_Silent_p.L411L|SLC22A18_uc001lwz.2_Silent_p.L313L	p.L411L	NM_183233	NP_899056	Q96BI1	S22AI_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)	11	1451	+		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)	411			Helical; (Potential).		O14906|O43562|O60485|O60680|Q7LDS5|Q7LGF7	Silent	SNP	ENST00000380574.1	37	c.1233C>G	CCDS7740.1																																																																																				PASS	0.597	SLC22A18-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027770.1	NM_183233		12	51	12	51	---	---	---	---
OR51I2	390064	broad.mit.edu	37	11	5475341	5475341	+	Missense_Mutation	SNP	G	G	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr11:5475341G>T	ENST00000341449.2	+	1	704	c.623G>T	c.(622-624)gGc>gTc	p.G208V	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	208					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.G208V(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)		TCCACCTTTGGCATGGACCTG	0.483																																						uc010qzf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(622-624)GGC>GTC		olfactory receptor, family 51, subfamily I,							396.0	333.0	354.0					11																	5475341		2201	4297	6498	SO:0001583	missense	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5475341G>T	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.623G>T	11.37:g.5475341G>T	ENSP00000341987:p.Gly208Val					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.G208V	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	623	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	208			Helical; Name=5; (Potential).		Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	c.623G>T	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	G	6.959	0.546884	0.13312	.	.	ENSG00000187918	ENST00000341449	T	0.34275	1.37	5.58	3.69	0.42338	GPCR, rhodopsin-like superfamily (1);	0.184636	0.38605	N	0.001635	T	0.38268	0.1034	L	0.58810	1.83	0.54753	D	0.999988	B	0.19331	0.035	B	0.28305	0.088	T	0.27773	-1.0064	10	0.52906	T	0.07	.	13.7743	0.63044	0.0:0.0:0.7194:0.2806	.	208	Q9H344	O51I2_HUMAN	V	208	ENSP00000341987:G208V	ENSP00000341987:G208V	G	+	2	0	OR51I2	5431917	0.996000	0.38824	0.170000	0.22879	0.032000	0.12392	2.209000	0.42806	0.887000	0.36136	0.655000	0.94253	GGC		PASS	0.483	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		54	83	54	83	---	---	---	---
NLRP14	338323	broad.mit.edu	37	11	7063864	7063864	+	Missense_Mutation	SNP	G	G	C			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr11:7063864G>C	ENST00000299481.4	+	4	953	c.607G>C	c.(607-609)Ggc>Cgc	p.G203R		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	203	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.G203R(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TTGGGCAGAGGGCAGTCTCTA	0.453																																						uc001mfb.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(607-609)GGC>CGC		NLR family, pyrin domain containing 14							101.0	103.0	102.0					11																	7063864		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7063864G>C	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.607G>C	11.37:g.7063864G>C	ENSP00000299481:p.Gly203Arg						p.G203R	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	930	+			203			NACHT.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.607G>C	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100911	0.76983	.	.	ENSG00000158077	ENST00000299481	T	0.80824	-1.42	4.47	4.47	0.54385	NACHT nucleoside triphosphatase (1);	0.000000	0.45126	D	0.000392	D	0.92133	0.7506	H	0.94222	3.51	0.47153	D	0.999337	D	0.89917	1.0	D	0.91635	0.999	D	0.94044	0.7312	10	0.87932	D	0	.	15.034	0.71731	0.0:0.0:1.0:0.0	.	203	Q86W24	NAL14_HUMAN	R	203	ENSP00000299481:G203R	ENSP00000299481:G203R	G	+	1	0	NLRP14	7020440	1.000000	0.71417	0.839000	0.33178	0.995000	0.86356	6.238000	0.72350	2.513000	0.84729	0.650000	0.86243	GGC		PASS	0.453	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		3	64	3	64	---	---	---	---
OR4C46	119749	broad.mit.edu	37	11	51515730	51515730	+	Missense_Mutation	SNP	G	G	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr11:51515730G>T	ENST00000328188.1	+	1	449	c.449G>T	c.(448-450)gGc>gTc	p.G150V		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G150V(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TGGATGGGAGGCTTTCTTCAT	0.463																																						uc010ric.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(448-450)GGC>GTC		olfactory receptor, family 4, subfamily C,							158.0	150.0	153.0					11																	51515730		2201	4296	6497	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515730G>T		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.449G>T	11.37:g.51515730G>T	ENSP00000329056:p.Gly150Val						p.G150V	NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN			1	449	+			150			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000328188.1	37	c.449G>T	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	6.119	0.390185	0.11581	.	.	ENSG00000185926	ENST00000328188	T	0.39056	1.1	2.48	1.49	0.22878	GPCR, rhodopsin-like superfamily (1);	0.146423	0.31554	N	0.007444	T	0.54334	0.1852	M	0.81942	2.565	0.19945	N	0.999945	D	0.54772	0.968	P	0.55161	0.77	T	0.49466	-0.8937	10	0.87932	D	0	.	8.7771	0.34769	0.0:0.2363:0.7637:0.0	.	150	A6NHA9	O4C46_HUMAN	V	150	ENSP00000329056:G150V	ENSP00000329056:G150V	G	+	2	0	OR4C46	51372306	0.994000	0.37717	0.025000	0.17156	0.061000	0.15899	2.226000	0.42963	0.368000	0.24481	0.134000	0.15878	GGC		PASS	0.463	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		45	109	45	109	---	---	---	---
TNKS1BP1	85456	broad.mit.edu	37	11	57080481	57080481	+	Missense_Mutation	SNP	G	G	C			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr11:57080481G>C	ENST00000532437.1	-	4	1992	c.1681C>G	c.(1681-1683)Caa>Gaa	p.Q561E	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.Q561E|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	561	Acidic.|Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.Q561E(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AATTGAGGTTGACTCTCCCCA	0.597																																						uc001njr.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1681-1683)CAA>GAA		tankyrase 1-binding protein 1							76.0	70.0	72.0					11																	57080481		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57080481G>C	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.1681C>G	11.37:g.57080481G>C	ENSP00000437271:p.Gln561Glu					TNKS1BP1_uc001njs.2_Missense_Mutation_p.Q561E|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.Q12E	p.Q561E	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN			4	1993	-		all_epithelial(135;0.21)	561			Pro-rich.|Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.1681C>G	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.907561	0.33721	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.30448	1.53;1.53	3.71	-0.827	0.10802	.	2.118510	0.02421	N	0.082568	T	0.17619	0.0423	L	0.27053	0.805	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.07616	-1.0763	10	0.12103	T	0.63	1.2661	0.7915	0.01058	0.2942:0.167:0.369:0.1699	.	561	Q9C0C2	TB182_HUMAN	E	561	ENSP00000350990:Q561E;ENSP00000437271:Q561E	ENSP00000350990:Q561E	Q	-	1	0	TNKS1BP1	56837057	0.016000	0.18221	0.000000	0.03702	0.673000	0.39480	2.375000	0.44283	-0.050000	0.13356	0.462000	0.41574	CAA		PASS	0.597	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		12	54	12	54	---	---	---	---
CLP1	10978	broad.mit.edu	37	11	57428849	57428849	+	Missense_Mutation	SNP	C	C	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr11:57428849C>T	ENST00000302731.4	+	3	1147	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	CLP1_ENST00000525602.1_Missense_Mutation_p.R407C|CLP1_ENST00000533682.1_Missense_Mutation_p.R407C|CLP1_ENST00000529430.1_Missense_Mutation_p.R418C	NM_001142597.1|NM_006831.2	NP_001136069.1|NP_006822.1	Q5KU26	COL12_HUMAN	cleavage and polyadenylation factor I subunit 1	0					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.R407C(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						TCCAGCCCCTCGCCCACTGCC	0.512																																						uc001nkw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1219-1221)CGC>TGC		ATP/GTP-binding protein isoform 1							156.0	130.0	139.0					11																	57428849		2201	4296	6497	SO:0001583	missense	10978				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity	g.chr11:57428849C>T	BC000446	CCDS7964.1, CCDS44600.1	11q12.1	2012-10-02	2012-10-02		ENSG00000172409	ENSG00000172409	2.7.1.78		16999	protein-coding gene	gene with protein product	"""ATP/GTPbinding protein"", ""polyribonucleotide 5'-hydroxyl-kinase"""	608757	"""CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae)"""			8896421, 11060040	Standard	NM_006831		Approved	HEAB, hClp1	uc001nkw.3	Q92989	OTTHUMG00000167146	ENST00000302731.4:c.1027C>T	11.37:g.57428849C>T	ENSP00000304704:p.Arg343Cys					CLP1_uc010rjw.1_Missense_Mutation_p.R343C|CLP1_uc009yml.2_Missense_Mutation_p.R407C	p.R407C	NM_006831	NP_006822	Q92989	CLP1_HUMAN			3	1358	+			407					Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000302731.4	37	c.1219C>T	CCDS44600.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806565	0.70682	.	.	ENSG00000172409	ENST00000529430;ENST00000533682;ENST00000525602;ENST00000302731	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.28	5.28	0.74379	Pre-mRNA cleavage complex II Clp1 (1);	0.044947	0.85682	D	0.000000	T	0.67126	0.2860	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.978	T	0.69022	-0.5255	10	0.62326	D	0.03	-27.0446	13.6461	0.62281	0.1548:0.8452:0.0:0.0	.	343;407	Q92989-2;Q92989	.;CLP1_HUMAN	C	418;407;407;343	ENSP00000433406:R418C;ENSP00000434995:R407C;ENSP00000436066:R407C;ENSP00000304704:R343C	ENSP00000304704:R343C	R	+	1	0	CLP1	57185425	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	3.622000	0.54217	2.756000	0.94617	0.650000	0.86243	CGC		PASS	0.512	CLP1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000393465.1	NM_006831		44	70	44	70	---	---	---	---
OR9Q2	219957	broad.mit.edu	37	11	57958307	57958307	+	Silent	SNP	G	G	T	rs560592347		TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr11:57958307G>T	ENST00000311591.3	+	1	402	c.345G>T	c.(343-345)ctG>ctT	p.L115L		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L115L(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				GCTACCTTCTGGCCATCATGG	0.592																																						uc010rka.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(343-345)CTG>CTT		olfactory receptor, family 9, subfamily Q,							164.0	134.0	145.0					11																	57958307		2201	4296	6497	SO:0001819	synonymous_variant	219957				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57958307G>T	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.345G>T	11.37:g.57958307G>T							p.L115L	NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN			1	345	+		Breast(21;0.0589)	115			Helical; Name=3; (Potential).			Silent	SNP	ENST00000311591.3	37	c.345G>T	CCDS31544.1																																																																																				PASS	0.592	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		34	97	34	97	---	---	---	---
PRPF19	27339	broad.mit.edu	37	11	60665722	60665722	+	Missense_Mutation	SNP	A	A	G			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr11:60665722A>G	ENST00000227524.4	-	14	1367	c.1162T>C	c.(1162-1164)Ttc>Ctc	p.F388L		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19									p.F388L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						TGGCCAGGGAAGTTGGCCACA	0.527																																						uc001nqf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1162-1164)TTC>CTC		PRP19/PSO4 pre-mRNA processing factor 19							48.0	50.0	49.0					11																	60665722		2203	4299	6502	SO:0001583	missense	27339				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	g.chr11:60665722A>G	BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"""WD repeat domain containing"", ""U-box domain containing"""	17896	protein-coding gene	gene with protein product	"""nuclear matrix protein NMP200 related to splicing factor PRP19"", ""psoralen 4"""	608330	"""PRP19/PSO4 homolog (S. cerevisiae)"", ""PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"""	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.1162T>C	11.37:g.60665722A>G	ENSP00000227524:p.Phe388Leu						p.F388L	NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN			14	1369	-			388						Missense_Mutation	SNP	ENST00000227524.4	37	c.1162T>C	CCDS7995.1	.	.	.	.	.	.	.	.	.	.	A	33	5.204344	0.95033	.	.	ENSG00000110107	ENST00000227524	T	0.55413	0.52	5.16	5.16	0.70880	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);Ricin B lectin (1);	0.129659	0.64402	D	0.000004	T	0.30135	0.0755	N	0.04043	-0.29	0.80722	D	1	P	0.43231	0.801	B	0.42916	0.402	T	0.31166	-0.9953	10	0.05351	T	0.99	-29.7603	14.8466	0.70264	1.0:0.0:0.0:0.0	.	388	Q9UMS4	PRP19_HUMAN	L	388	ENSP00000227524:F388L	ENSP00000227524:F388L	F	-	1	0	PRPF19	60422298	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	8.719000	0.91436	2.165000	0.68154	0.528000	0.53228	TTC		PASS	0.527	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396334.1	NM_014502		9	44	9	44	---	---	---	---
ANKRD13D	338692	broad.mit.edu	37	11	67059504	67059504	+	Missense_Mutation	SNP	T	T	G			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr11:67059504T>G	ENST00000447274.2	+	6	1498	c.323T>G	c.(322-324)gTg>gGg	p.V108G	ANKRD13D_ENST00000308440.6_Missense_Mutation_p.V108G|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.V195G|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.V108G			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	108						endosome (GO:0005768)|plasma membrane (GO:0005886)		p.V195G(1)|p.V108G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GACCGGCAGGTGGTGCATGTG	0.667																																						uc001okc.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(322-324)GTG>GGG		ankyrin repeat domain 13 family, member D							40.0	42.0	41.0					11																	67059504		2200	4295	6495	SO:0001583	missense	338692							g.chr11:67059504T>G	AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"""Ankyrin repeat domain containing"""	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.323T>G	11.37:g.67059504T>G	ENSP00000402616:p.Val108Gly					ANKRD13D_uc001okd.1_Missense_Mutation_p.V195G|ANKRD13D_uc001oke.1_Missense_Mutation_p.V108G	p.V108G	NM_207354	NP_997237	Q6ZTN6	AN13D_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		7	834	+			108					D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	ENST00000447274.2	37	c.323T>G		.	.	.	.	.	.	.	.	.	.	T	22.8	4.337579	0.81911	.	.	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	3.9	3.9	0.45041	.	0.000000	0.64402	D	0.000020	T	0.66096	0.2755	M	0.81942	2.565	0.80722	D	1	D;D	0.76494	0.999;0.971	D;P	0.74023	0.982;0.786	T	0.66044	-0.6021	10	0.28530	T	0.3	-18.8652	12.1809	0.54211	0.0:0.0:0.0:1.0	.	195;108	Q6ZTN6-3;Q6ZTN6	.;AN13D_HUMAN	G	108;195;108;108	ENSP00000402616:V108G;ENSP00000427130:V195G;ENSP00000310874:V108G;ENSP00000444404:V108G	ENSP00000310874:V108G	V	+	2	0	ANKRD13D	66816080	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.806000	0.69150	1.785000	0.52413	0.459000	0.35465	GTG		PASS	0.667	ANKRD13D-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000371067.2	NM_207354		6	29	6	29	---	---	---	---
INPPL1	3636	broad.mit.edu	37	11	71939479	71939479	+	Missense_Mutation	SNP	G	G	C			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr11:71939479G>C	ENST00000298229.2	+	3	538	c.334G>C	c.(334-336)Gcc>Ccc	p.A112P	INPPL1_ENST00000538751.1_5'UTR|INPPL1_ENST00000541756.1_5'UTR	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	112	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)	p.A112P(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCTTGTGTGCGCCCTGCTTCT	0.667																																						uc001osf.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(334-336)GCC>CCC		inositol polyphosphate phosphatase-like 1							57.0	61.0	60.0					11																	71939479		2200	4293	6493	SO:0001583	missense	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71939479G>C	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.334G>C	11.37:g.71939479G>C	ENSP00000298229:p.Ala112Pro					INPPL1_uc001osg.2_5'UTR	p.A112P	NM_001567	NP_001558	O15357	SHIP2_HUMAN			3	481	+			112			SH2.		B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	c.334G>C	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	g	11.95	1.790706	0.31685	.	.	ENSG00000165458	ENST00000298229	D	0.98585	-5.01	4.45	4.45	0.53987	SH2 motif (2);	0.212969	0.40302	N	0.001125	D	0.91499	0.7316	N	0.02296	-0.605	0.80722	D	1	B	0.11235	0.004	B	0.08055	0.003	D	0.87578	0.2482	10	0.33141	T	0.24	.	8.2917	0.31960	0.1054:0.0:0.8946:0.0	.	112	O15357	SHIP2_HUMAN	P	112	ENSP00000298229:A112P	ENSP00000298229:A112P	A	+	1	0	INPPL1	71617127	0.999000	0.42202	0.993000	0.49108	0.829000	0.46940	3.297000	0.51810	2.314000	0.78098	0.561000	0.74099	GCC		PASS	0.667	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		16	52	16	52	---	---	---	---
C11orf70	85016	broad.mit.edu	37	11	101946766	101946766	+	Missense_Mutation	SNP	G	G	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr11:101946766G>T	ENST00000434758.2	+	5	626	c.598G>T	c.(598-600)Gat>Tat	p.D200Y	C11orf70_ENST00000534360.1_3'UTR|C11orf70_ENST00000526781.1_Missense_Mutation_p.D200Y	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	200								p.D162Y(1)		breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		TATCTATAAGGATCTGGTGAG	0.348																																						uc001pgp.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(598-600)GAT>TAT		hypothetical protein LOC85016							119.0	117.0	118.0					11																	101946766		2203	4299	6502	SO:0001583	missense	85016							g.chr11:101946766G>T	AK094851	CCDS8313.1, CCDS8313.2, CCDS53698.1	11q22.1	2012-05-31			ENSG00000137691	ENSG00000137691			28188	protein-coding gene	gene with protein product							Standard	NM_032930		Approved	MGC13040	uc001pgp.3	Q9BRQ4	OTTHUMG00000167320	ENST00000434758.2:c.598G>T	11.37:g.101946766G>T	ENSP00000414390:p.Asp200Tyr					C11orf70_uc001pgo.2_3'UTR|C11orf70_uc001pgq.2_Missense_Mutation_p.D162Y	p.D200Y	NM_032930	NP_116319	Q9BRQ4	CK070_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)	5	626	+	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	200					E9PJU1	Missense_Mutation	SNP	ENST00000434758.2	37	c.598G>T	CCDS8313.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.47|18.47	3.630321|3.630321	0.67015|0.67015	.|.	.|.	ENSG00000137691|ENSG00000137691	ENST00000434758;ENST00000526781;ENST00000423732|ENST00000529204	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83464|0.83464	0.5260|0.5260	M|M	0.86028|0.86028	2.79|2.79	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.84357|0.84357	0.0536|0.0536	9|5	0.87932|.	D|.	0|.	-26.1091|-26.1091	19.8575|19.8575	0.96767|0.96767	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	200|.	Q9BRQ4|.	CK070_HUMAN|.	Y|S	200;200;162|91	.|.	ENSP00000392150:D162Y|.	D|R	+|+	1|3	0|2	C11orf70|C11orf70	101451976|101451976	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.464000|0.464000	0.32679|0.32679	8.978000|8.978000	0.93450|0.93450	2.767000|2.767000	0.95098|0.95098	0.563000|0.563000	0.77884|0.77884	GAT|AGG		PASS	0.348	C11orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394144.1	NM_032930		18	58	18	58	---	---	---	---
TTC12	54970	broad.mit.edu	37	11	113235651	113235651	+	Silent	SNP	C	C	T	rs145338802	byFrequency	TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr11:113235651C>T	ENST00000529221.1	+	21	2016	c.1911C>T	c.(1909-1911)aaC>aaT	p.N637N	TTC12_ENST00000393020.1_Intron|TTC12_ENST00000314756.3_Silent_p.N637N|TTC12_ENST00000483239.2_Silent_p.N643N	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	637								p.N637N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AGGTGCCCAACGTTGCGTCTT	0.557																																						uc001pnu.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(1909-1911)AAC>AAT		tetratricopeptide repeat domain 12							152.0	106.0	122.0					11																	113235651		2201	4296	6497	SO:0001819	synonymous_variant	54970						binding	g.chr11:113235651C>T	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.1911C>T	11.37:g.113235651C>T						TTC12_uc001pnv.2_Silent_p.N643N|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Silent_p.N487N	p.N637N	NM_017868	NP_060338	Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	21	2016	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	637					Q8N5H9|Q9NWY3	Silent	SNP	ENST00000529221.1	37	c.1911C>T	CCDS8360.2																																																																																				PASS	0.557	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		15	30	15	30	---	---	---	---
OR8B4	283162	broad.mit.edu	37	11	124294718	124294718	+	Missense_Mutation	SNP	A	A	G			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr11:124294718A>G	ENST00000356130.3	-	1	71	c.50T>C	c.(49-51)tTa>tCa	p.L17S		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L17S(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTGTTCTGATAATCCCACAAG	0.483																																						uc010sak.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(49-51)TTA>TCA		olfactory receptor, family 8, subfamily B,							49.0	47.0	48.0					11																	124294718		2201	4299	6500	SO:0001583	missense	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294718A>G	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.50T>C	11.37:g.124294718A>G	ENSP00000348449:p.Leu17Ser						p.L17S	NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	50	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	17			Extracellular (Potential).		B2RNF8|Q6IFQ7	Missense_Mutation	SNP	ENST00000356130.3	37	c.50T>C	CCDS31710.1	.	.	.	.	.	.	.	.	.	.	a	16.47	3.133544	0.56828	.	.	ENSG00000198657	ENST00000356130	T	0.00342	8.03	4.62	4.62	0.57501	.	0.335780	0.21627	N	0.071560	T	0.01061	0.0035	M	0.94063	3.49	0.26629	N	0.972508	D	0.59357	0.985	P	0.62014	0.897	T	0.10567	-1.0624	10	0.87932	D	0	.	14.1353	0.65284	1.0:0.0:0.0:0.0	.	17	Q96RC9	OR8B4_HUMAN	S	17	ENSP00000348449:L17S	ENSP00000348449:L17S	L	-	2	0	OR8B4	123799928	0.871000	0.30034	0.665000	0.29768	0.586000	0.36452	7.998000	0.88491	2.073000	0.62155	0.533000	0.62120	TTA		PASS	0.483	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		11	35	11	35	---	---	---	---
PKNOX2	63876	broad.mit.edu	37	11	125267790	125267790	+	Silent	SNP	C	C	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr11:125267790C>A	ENST00000298282.9	+	7	691	c.420C>A	c.(418-420)gtC>gtA	p.V140V	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Silent_p.V76V	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	140					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)	p.V140V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CAATCCAGGTCCTGAGAATCC	0.552																																						uc001qbu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(418-420)GTC>GTA		PBX/knotted 1 homeobox 2							105.0	111.0	109.0					11																	125267790		1968	4178	6146	SO:0001819	synonymous_variant	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125267790C>A	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.420C>A	11.37:g.125267790C>A						PKNOX2_uc010saz.1_Silent_p.V111V|PKNOX2_uc010sba.1_Silent_p.V111V|PKNOX2_uc010sbb.1_Silent_p.V76V	p.V140V	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	7	734	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	140					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Silent	SNP	ENST00000298282.9	37	c.420C>A	CCDS41730.1																																																																																				PASS	0.552	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			10	35	10	35	---	---	---	---
ARHGAP32	9743	broad.mit.edu	37	11	128844845	128844845	+	Silent	SNP	C	C	G			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr11:128844845C>G	ENST00000310343.9	-	20	2204	c.2205G>C	c.(2203-2205)ctG>ctC	p.L735L	ARHGAP32_ENST00000392657.3_Silent_p.L386L|ARHGAP32_ENST00000524655.1_Silent_p.L661L|ARHGAP32_ENST00000527272.1_Silent_p.L386L	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	735					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.L735L(1)|p.L386L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						AAGAGGCAGACAGTGCATCAC	0.448																																						uc009zcp.2																			2	Substitution - coding silent(2)		lung(2)	lung(3)|ovary(2)	5						c.(2203-2205)CTG>CTC		Rho GTPase-activating protein isoform 1							76.0	72.0	74.0					11																	128844845		2201	4297	6498	SO:0001819	synonymous_variant	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128844845C>G	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.2205G>C	11.37:g.128844845C>G						ARHGAP32_uc009zcq.1_Silent_p.L695L|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_Silent_p.L386L	p.L735L	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN			20	2205	-			735					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	ENST00000310343.9	37	c.2205G>C	CCDS44769.1																																																																																				PASS	0.448	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		4	44	4	44	---	---	---	---
STYK1	55359	broad.mit.edu	37	12	10782146	10782146	+	Silent	SNP	C	C	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr12:10782146C>A	ENST00000075503.3	-	6	1099	c.579G>T	c.(577-579)gtG>gtT	p.V193V		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	193	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.V193V(1)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CATCCTCCAACACCATATAGA	0.527										HNSCC(73;0.22)																												uc001qys.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						c.(577-579)GTG>GTT		serine/threonine/tyrosine kinase 1							57.0	50.0	53.0					12																	10782146		2203	4300	6503	SO:0001819	synonymous_variant	55359					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr12:10782146C>A	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.579G>T	12.37:g.10782146C>A		HNSCC(73;0.22)					p.V193V	NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN			6	1100	-			193			Protein kinase.		B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Silent	SNP	ENST00000075503.3	37	c.579G>T	CCDS8629.1	.	.	.	.	.	.	.	.	.	.	C	9.194	1.026665	0.19512	.	.	ENSG00000060140	ENST00000542924	.	.	.	5.58	1.68	0.24146	.	.	.	.	.	T	0.50956	0.1646	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37663	-0.9696	4	.	.	.	-12.3878	4.5448	0.12076	0.1498:0.5361:0.0:0.314	.	.	.	.	F	31	.	.	C	-	2	0	STYK1	10673413	0.004000	0.15560	0.584000	0.28653	0.987000	0.75469	-0.169000	0.09911	0.401000	0.25424	0.655000	0.94253	TGT		PASS	0.527	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		8	35	8	35	---	---	---	---
PTPRO	5800	broad.mit.edu	37	12	15654584	15654584	+	Missense_Mutation	SNP	G	G	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr12:15654584G>A	ENST00000281171.4	+	5	1022	c.692G>A	c.(691-693)cGt>cAt	p.R231H	PTPRO_ENST00000348962.2_Missense_Mutation_p.R231H|PTPRO_ENST00000543886.1_Missense_Mutation_p.R231H	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	231					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.R231H(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ATTTCCGTTCGTATCGTAAAC	0.328																																						uc001rcv.1																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(691-693)CGT>CAT		receptor-type protein tyrosine phosphatase O							50.0	51.0	51.0					12																	15654584		2203	4299	6502	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15654584G>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.692G>A	12.37:g.15654584G>A	ENSP00000281171:p.Arg231His					PTPRO_uc001rcw.1_Missense_Mutation_p.R231H|PTPRO_uc001rcu.1_Missense_Mutation_p.R231H	p.R231H	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			5	866	+		Hepatocellular(102;0.244)	231			Extracellular (Potential).		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.692G>A	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163698	0.38217	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T	0.04156	3.71;3.69	4.71	3.82	0.43975	.	0.156649	0.30419	N	0.009670	T	0.03564	0.0102	N	0.19112	0.55	0.80722	D	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.42916	-0.9423	10	0.52906	T	0.07	.	7.6353	0.28264	0.2684:0.0:0.7316:0.0	.	231;231;231	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	H	231	ENSP00000281171:R231H;ENSP00000343434:R231H	ENSP00000281171:R231H	R	+	2	0	PTPRO	15545851	0.974000	0.33945	0.994000	0.49952	0.987000	0.75469	1.066000	0.30604	1.209000	0.43321	0.585000	0.79938	CGT		PASS	0.328	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			14	33	14	33	---	---	---	---
YARS2	51067	broad.mit.edu	37	12	32906940	32906940	+	Missense_Mutation	SNP	C	C	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr12:32906940C>A	ENST00000324868.8	-	2	886	c.859G>T	c.(859-861)Ggc>Tgc	p.G287C		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	287					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)	p.G287C(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	ACAGCGTTGCCAGCAGACTTT	0.418																																						uc001rli.2																			1	Substitution - Missense(1)		lung(1)		0						c.(859-861)GGC>TGC		tyrosyl-tRNA synthetase 2, mitochondrial	L-Tyrosine(DB00135)						147.0	139.0	142.0					12																	32906940		2203	4300	6503	SO:0001583	missense	51067				tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity	g.chr12:32906940C>A	AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	24249	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 2, mitochondrial"""	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.859G>T	12.37:g.32906940C>A	ENSP00000320658:p.Gly287Cys						p.G287C	NM_001040436	NP_001035526	Q9Y2Z4	SYYM_HUMAN			2	925	-	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		287					D3DUW8|Q9H817	Missense_Mutation	SNP	ENST00000324868.8	37	c.859G>T	CCDS31770.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.972690	0.92919	.	.	ENSG00000139131	ENST00000324868	T	0.57907	0.37	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.81833	0.4906	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87477	0.2418	10	0.87932	D	0	-8.5019	17.637	0.88125	0.0:1.0:0.0:0.0	.	287	Q9Y2Z4	SYYM_HUMAN	C	287	ENSP00000320658:G287C	ENSP00000320658:G287C	G	-	1	0	YARS2	32798207	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.673000	0.90976	0.650000	0.86243	GGC		PASS	0.418	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404153.1	NM_015936		36	115	36	115	---	---	---	---
PA2G4	5036	broad.mit.edu	37	12	56500497	56500497	+	Nonsense_Mutation	SNP	A	A	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr12:56500497A>T	ENST00000303305.6	+	2	633	c.214A>T	c.(214-216)Aaa>Taa	p.K72*	PA2G4_ENST00000552766.1_Nonsense_Mutation_p.K72*|RP11-603J24.9_ENST00000548861.1_Nonsense_Mutation_p.K53*|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	72					cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)	p.K72*(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			GGAAATGAAGAAAGGTAAAAA	0.383																																						uc001sjm.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(214-216)AAA>TAA		ErbB3-binding protein 1							47.0	54.0	52.0					12																	56500497		2203	4300	6503	SO:0001587	stop_gained	5036				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr12:56500497A>T	U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.214A>T	12.37:g.56500497A>T	ENSP00000302886:p.Lys72*					PA2G4_uc009zol.2_Nonsense_Mutation_p.K72*|PA2G4_uc009zom.2_Nonsense_Mutation_p.K72*	p.K72*	NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		2	633	+			72					O43846|Q9UM59	Nonsense_Mutation	SNP	ENST00000303305.6	37	c.214A>T	CCDS8902.1	.	.	.	.	.	.	.	.	.	.	A	39	7.287230	0.98189	.	.	ENSG00000257411;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515	ENST00000548861;ENST00000303305;ENST00000552766;ENST00000417031;ENST00000546435;ENST00000548711;ENST00000553057;ENST00000551061	.	.	.	6.17	6.17	0.99709	.	0.043044	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8048	0.78491	1.0:0.0:0.0:0.0	.	.	.	.	X	53;72;72;101;72;72;61;18	.	ENSP00000302886:K72X	K	+	1	0	PA2G4;RP11-603J24.9	54786764	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.815000	0.91973	2.371000	0.80710	0.533000	0.62120	AAA		PASS	0.383	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		7	43	7	43	---	---	---	---
PTPRB	5787	broad.mit.edu	37	12	70963467	70963467	+	Missense_Mutation	SNP	C	C	G			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr12:70963467C>G	ENST00000261266.5	-	12	2997	c.2968G>C	c.(2968-2970)Gtt>Ctt	p.V990L	PTPRB_ENST00000451516.2_Missense_Mutation_p.V900L|PTPRB_ENST00000334414.6_Missense_Mutation_p.V1208L|PTPRB_ENST00000551525.1_Missense_Mutation_p.V1207L|PTPRB_ENST00000550857.1_Missense_Mutation_p.V900L|PTPRB_ENST00000550358.1_Missense_Mutation_p.V1120L|PTPRB_ENST00000538708.1_Missense_Mutation_p.V990L	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	990	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V990L(2)|p.V1208L(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTCCGCCCAACCACATTTATC	0.522																																						uc001swb.3																			3	Substitution - Missense(3)		lung(3)	lung(2)|skin(1)	3						c.(2968-2970)GTT>CTT		protein tyrosine phosphatase, receptor type, B							81.0	81.0	81.0					12																	70963467		2126	4243	6369	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70963467C>G	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.2968G>C	12.37:g.70963467C>G	ENSP00000261266:p.Val990Leu					PTPRB_uc010sto.1_Missense_Mutation_p.V990L|PTPRB_uc010stp.1_Missense_Mutation_p.V900L|PTPRB_uc001swc.3_Missense_Mutation_p.V1208L|PTPRB_uc001swa.3_Missense_Mutation_p.V1120L|PTPRB_uc001swd.3_Missense_Mutation_p.V1207L|PTPRB_uc009zrr.1_Missense_Mutation_p.V1087L	p.V990L	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		12	2998	-	Renal(347;0.236)		990			Fibronectin type-III 11.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.2968G>C	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	9.509	1.105189	0.20632	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.04317	4.17;4.16;4.18;4.2;4.16;4.22;3.65;3.69	5.35	-5.54	0.02544	Fibronectin, type III (1);	1.107250	0.06634	N	0.759729	T	0.01765	0.0056	N	0.04387	-0.21	0.09310	N	1	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.08055	0.001;0.002;0.001;0.002;0.001;0.001;0.003	T	0.47509	-0.9112	10	0.10902	T	0.67	.	4.308	0.10956	0.3745:0.3808:0.1631:0.0816	.	900;990;1087;1207;1208;990;1120	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	L	1208;900;1120;990;900;990;1207;1087	ENSP00000334928:V1208L;ENSP00000393028:V900L;ENSP00000448058:V1120L;ENSP00000438927:V990L;ENSP00000447302:V900L;ENSP00000261266:V990L;ENSP00000448349:V1207L;ENSP00000446982:V1087L	ENSP00000261266:V990L	V	-	1	0	PTPRB	69249734	0.000000	0.05858	0.000000	0.03702	0.204000	0.24138	-0.140000	0.10342	-1.370000	0.02144	-1.173000	0.01734	GTT		PASS	0.522	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			45	34	45	34	---	---	---	---
SART3	9733	broad.mit.edu	37	12	108936867	108936867	+	Silent	SNP	T	T	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr12:108936867T>A	ENST00000228284.3	-	6	1077	c.843A>T	c.(841-843)gtA>gtT	p.V281V	SART3_ENST00000552221.1_5'Flank|SART3_ENST00000431469.2_Silent_p.V281V	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	281					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V281V(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						AGTTCTGAATTACTGACTCTG	0.413									Porokeratosis																													uc001tmz.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(841-843)GTA>GTT		squamous cell carcinoma antigen recognized by T							218.0	197.0	204.0					12																	108936867		2203	4300	6503	SO:0001819	synonymous_variant	9733	Porokeratosis	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr12:108936867T>A	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.843A>T	12.37:g.108936867T>A						SART3_uc001tmy.1_5'Flank|SART3_uc009zux.1_5'UTR|SART3_uc010swx.1_Silent_p.V281V|SART3_uc010swy.1_Silent_p.V167V|SART3_uc010swz.1_Silent_p.V281V|SART3_uc001tna.1_RNA	p.V281V	NM_014706	NP_055521	Q15020	SART3_HUMAN			6	1078	-			281					A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Silent	SNP	ENST00000228284.3	37	c.843A>T	CCDS9117.1																																																																																				PASS	0.413	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1			31	33	31	33	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124362328	124362328	+	Missense_Mutation	SNP	T	T	C			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr12:124362328T>C	ENST00000409039.3	+	47	7916	c.7891T>C	c.(7891-7893)Tgc>Cgc	p.C2631R		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2631	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.C1223R(1)|p.C2631R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCTGACATTCTGCACGCTAGC	0.448																																						uc001uft.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(7891-7893)TGC>CGC		dynein, axonemal, heavy chain 10							100.0	108.0	106.0					12																	124362328		2123	4242	6365	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124362328T>C	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.7891T>C	12.37:g.124362328T>C	ENSP00000386770:p.Cys2631Arg						p.C2631R	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	47	7916	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2631			AAA 3 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.7891T>C	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	T	14.72	2.620976	0.46736	.	.	ENSG00000197653	ENST00000409039	T	0.34667	1.35	5.46	5.46	0.80206	.	0.000000	0.85682	U	0.000000	T	0.50188	0.1601	M	0.80982	2.52	0.80722	D	1	P	0.38335	0.627	P	0.44422	0.449	T	0.54827	-0.8235	10	0.52906	T	0.07	.	15.1931	0.73063	0.0:0.0:0.0:1.0	.	2631	Q8IVF4	DYH10_HUMAN	R	2631	ENSP00000386770:C2631R	ENSP00000386770:C2631R	C	+	1	0	DNAH10	122928281	1.000000	0.71417	0.985000	0.45067	0.037000	0.13140	7.893000	0.87330	2.079000	0.62486	0.454000	0.30748	TGC		PASS	0.448	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			19	31	19	31	---	---	---	---
GPR133	283383	broad.mit.edu	37	12	131561415	131561415	+	Missense_Mutation	SNP	T	T	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr12:131561415T>A	ENST00000261654.5	+	14	2102	c.1543T>A	c.(1543-1545)Ttc>Atc	p.F515I	GPR133_ENST00000376682.4_Missense_Mutation_p.F201I|GPR133_ENST00000543617.1_Missense_Mutation_p.F34I|GPR133_ENST00000535015.1_Missense_Mutation_p.F547I	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	515	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				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.F515I(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CTTCCTGGACTTCAGGTACCC	0.582																																						uc001uit.3																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(3)|skin(2)	10						c.(1543-1545)TTC>ATC		G protein-coupled receptor 133 precursor							167.0	132.0	144.0					12																	131561415		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131561415T>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1543T>A	12.37:g.131561415T>A	ENSP00000261654:p.Phe515Ile					GPR133_uc010tbm.1_Missense_Mutation_p.F547I|GPR133_uc009zyo.2_5'UTR|GPR133_uc001uiv.1_Missense_Mutation_p.F34I	p.F515I	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	14	2102	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		515			GPS.|Extracellular (Potential).		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.1543T>A	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.445206	0.83993	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617	T;T;T;T	0.46819	0.87;0.87;0.86;0.89	3.78	3.78	0.43462	GPS domain (3);	0.078492	0.53938	D	0.000055	T	0.52597	0.1744	M	0.77820	2.39	0.43919	D	0.996563	P;B;B	0.38195	0.622;0.005;0.025	B;B;B	0.42245	0.381;0.037;0.087	T	0.59820	-0.7382	10	0.72032	D	0.01	.	10.743	0.46164	0.0:0.0:0.0:1.0	.	547;34;515	B7ZLF7;Q6QNK2-3;Q6QNK2	.;.;GP133_HUMAN	I	515;547;201;34	ENSP00000261654:F515I;ENSP00000444425:F547I;ENSP00000365872:F201I;ENSP00000438021:F34I	ENSP00000261654:F515I	F	+	1	0	GPR133	130127368	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	4.224000	0.58593	1.505000	0.48720	0.402000	0.26972	TTC		PASS	0.582	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		19	23	19	23	---	---	---	---
MTUS2	23281	broad.mit.edu	37	13	29600146	29600146	+	Silent	SNP	G	G	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr13:29600146G>T	ENST00000431530.3	+	1	1399	c.1341G>T	c.(1339-1341)gtG>gtT	p.V447V		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	437						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.V447V(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ACAGTCATGTGGCTTTTATTC	0.483																																						uc001usl.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1339-1341)GTG>GTT		hypothetical protein LOC23281 isoform a							57.0	58.0	58.0					13																	29600146		1922	4130	6052	SO:0001819	synonymous_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29600146G>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1341G>T	13.37:g.29600146G>T							p.V447V	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			1	1399	+			437					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	c.1341G>T	CCDS45022.1																																																																																				PASS	0.483	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		5	20	5	20	---	---	---	---
ATP7B	540	broad.mit.edu	37	13	52548103	52548103	+	Missense_Mutation	SNP	T	T	G			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr13:52548103T>G	ENST00000242839.4	-	2	1409	c.1253A>C	c.(1252-1254)gAa>gCa	p.E418A	ATP7B_ENST00000344297.5_Missense_Mutation_p.E418A|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Missense_Mutation_p.E418A|ATP7B_ENST00000400366.3_Missense_Mutation_p.E307A|ATP7B_ENST00000418097.2_Missense_Mutation_p.E418A|ATP7B_ENST00000448424.2_Missense_Mutation_p.E418A|ATP7B_ENST00000542656.1_Missense_Mutation_p.E386A	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	418	HMA 4. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)	p.E418A(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)	TCCCATGTCTTCTATAGCAGC	0.463									Wilson disease																													uc001vfw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1252-1254)GAA>GCA		ATPase, Cu++ transporting, beta polypeptide							99.0	97.0	98.0					13																	52548103		1938	4145	6083	SO:0001583	missense	540	Wilson_disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52548103T>G	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.1253A>C	13.37:g.52548103T>G	ENSP00000242839:p.Glu418Ala					ATP7B_uc010adv.2_Missense_Mutation_p.E418A|ATP7B_uc001vfx.2_Missense_Mutation_p.E418A|ATP7B_uc001vfy.2_Missense_Mutation_p.E307A|ATP7B_uc010tgt.1_Missense_Mutation_p.E418A|ATP7B_uc010tgu.1_Missense_Mutation_p.E418A|ATP7B_uc010tgv.1_Missense_Mutation_p.E418A|ATP7B_uc010tgw.1_Missense_Mutation_p.E386A	p.E418A	NM_000053	NP_000044	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	2	1410	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	418			HMA 4.|Cytoplasmic (Potential).		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.1253A>C	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.673775	0.88445	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000400370;ENST00000418097;ENST00000542656	D;D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	5.52	5.52	0.82312	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);	0.087532	0.85682	D	0.000000	D	0.92172	0.7518	L	0.43757	1.38	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.995;0.997;0.963;0.997;0.999;0.999	D;D;D;D;D;D;D;D	0.91635	0.997;0.999;0.946;0.984;0.96;0.943;0.996;0.986	D	0.93014	0.6434	10	0.72032	D	0.01	-16.1573	15.6436	0.77029	0.0:0.0:0.0:1.0	.	386;418;418;418;418;307;418;418	F6XIH0;E7ET55;B7ZLR4;F5H748;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;.;ATP7B_HUMAN	A	418;307;418;418;418;418;386	ENSP00000242839:E418A;ENSP00000383217:E307A;ENSP00000342559:E418A;ENSP00000416738:E418A;ENSP00000383221:E418A;ENSP00000393343:E418A;ENSP00000443128:E386A	ENSP00000242839:E418A	E	-	2	0	ATP7B	51446104	1.000000	0.71417	0.924000	0.36721	0.994000	0.84299	8.040000	0.89188	2.094000	0.63399	0.460000	0.39030	GAA		PASS	0.463	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		8	44	8	44	---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58299291	58299291	+	Missense_Mutation	SNP	G	G	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr13:58299291G>T	ENST00000377918.3	+	4	3369	c.3343G>T	c.(3343-3345)Ggt>Tgt	p.G1115C		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1115					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G1115C(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGTGAGATGGGTGCTGTTCT	0.512																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(3343-3345)GGT>TGT		protocadherin 17 precursor							167.0	170.0	169.0					13																	58299291		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58299291G>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3343G>T	13.37:g.58299291G>T	ENSP00000367151:p.Gly1115Cys					PCDH17_uc010aec.1_Missense_Mutation_p.G1114C|PCDH17_uc001vhr.1_Missense_Mutation_p.G204C	p.G1115C	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	4	4235	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	1115			Cytoplasmic (Potential).		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.3343G>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820663	0.32145	.	.	ENSG00000118946	ENST00000377918	T	0.51574	0.7	6.07	6.07	0.98685	.	0.103671	0.64402	D	0.000004	T	0.29556	0.0737	N	0.08118	0	0.46478	D	0.999067	P	0.47034	0.889	B	0.36959	0.237	T	0.09422	-1.0675	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	1115	O14917	PCD17_HUMAN	C	1115	ENSP00000367151:G1115C	.	G	+	1	0	PCDH17	57197292	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.597000	0.82733	2.885000	0.99019	0.655000	0.94253	GGT		PASS	0.512	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		36	99	36	99	---	---	---	---
KLHL1	57626	broad.mit.edu	37	13	70535466	70535466	+	Nonsense_Mutation	SNP	C	C	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr13:70535466C>T	ENST00000377844.4	-	3	1550	c.791G>A	c.(790-792)tGg>tAg	p.W264*	KLHL1_ENST00000545028.1_Nonsense_Mutation_p.W71*	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	264	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.W264*(1)|p.W264L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GACAAGGTCCCAGAGAGCATT	0.378																																						uc001vip.2																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		large_intestine(1)|lung(1)		0						c.(790-792)TGG>TAG		kelch-like 1 protein							148.0	131.0	137.0					13																	70535466		2203	4300	6503	SO:0001587	stop_gained	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70535466C>T	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.791G>A	13.37:g.70535466C>T	ENSP00000367075:p.Trp264*					KLHL1_uc010thm.1_Nonsense_Mutation_p.W203*	p.W264*	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	3	1585	-		Breast(118;0.000162)	264			BTB.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Nonsense_Mutation	SNP	ENST00000377844.4	37	c.791G>A	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	39	7.753484	0.98471	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	.	.	.	5.08	5.08	0.68730	.	0.243063	0.32134	N	0.006535	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	12.2399	0.54536	0.0:0.9218:0.0:0.0782	.	.	.	.	X	264;71	.	ENSP00000367075:W264X	W	-	2	0	KLHL1	69433467	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.272000	0.51616	2.531000	0.85337	0.563000	0.77884	TGG		PASS	0.378	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		19	70	19	70	---	---	---	---
MYO16	23026	broad.mit.edu	37	13	109817407	109817407	+	Splice_Site	SNP	G	G	C			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr13:109817407G>C	ENST00000357550.2	+	32	5298	c.5257G>C	c.(5257-5259)Ggt>Cgt	p.G1753R	MYO16_ENST00000356711.2_Splice_Site_p.G1753R|MYO16-AS1_ENST00000439299.1_RNA	NM_001198950.1	NP_001185879.1			myosin XVI									p.G1753R(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CATCTCAAATGGTAAGCACTT	0.328																																						uc001vqt.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(5257-5259)GGT>CGT		myosin heavy chain Myr 8							47.0	44.0	45.0					13																	109817407		2202	4299	6501	SO:0001630	splice_region_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109817407G>C		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.5257+1G>C	13.37:g.109817407G>C						MYO16_uc010agk.1_Missense_Mutation_p.G1775R	p.G1753R	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		33	5383	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1753						Missense_Mutation	SNP	ENST00000357550.2	37	c.5257G>C	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971328	0.53614	.	.	ENSG00000041515	ENST00000356711;ENST00000357550	D;D	0.84873	-1.91;-1.91	5.5	5.5	0.81552	.	0.000000	0.41396	U	0.000891	D	0.90731	0.7091	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.90086	0.4174	9	.	.	.	.	16.1443	0.81555	0.0:0.0:1.0:0.0	.	1753	Q9Y6X6	MYO16_HUMAN	R	1753	ENSP00000349145:G1753R;ENSP00000350160:G1753R	.	G	+	1	0	MYO16	108615408	1.000000	0.71417	0.993000	0.49108	0.505000	0.33919	5.444000	0.66587	2.584000	0.87258	0.563000	0.77884	GGT		PASS	0.328	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011	Missense_Mutation	10	43	10	43	---	---	---	---
ARHGEF7	8874	broad.mit.edu	37	13	111944527	111944527	+	Missense_Mutation	SNP	G	G	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr13:111944527G>T	ENST00000375741.2	+	20	2510	c.2260G>T	c.(2260-2262)Gac>Tac	p.D754Y	ARHGEF7_ENST00000375739.2_Missense_Mutation_p.D704Y|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.D498Y|ARHGEF7_ENST00000426073.2_Intron|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.D733Y|ARHGEF7_ENST00000375737.5_Intron|ARHGEF7_ENST00000375736.4_Intron|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.D576Y|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.D576Y	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	754					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D733Y(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			ACCAAGCCTAGACTCCCTGGG	0.552																																						uc001vrs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(2260-2262)GAC>TAC		PAK-interacting exchange factor beta isoform c							123.0	107.0	112.0					13																	111944527		2203	4300	6503	SO:0001583	missense	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111944527G>T	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.2260G>T	13.37:g.111944527G>T	ENSP00000364893:p.Asp754Tyr					ARHGEF7_uc001vrr.2_Missense_Mutation_p.D733Y|ARHGEF7_uc001vrt.2_Missense_Mutation_p.D704Y|ARHGEF7_uc001vrv.3_Intron|ARHGEF7_uc001vrw.3_Intron|ARHGEF7_uc001vrx.3_Intron|ARHGEF7_uc010tjo.1_Intron|ARHGEF7_uc010tjp.1_Missense_Mutation_p.D498Y|ARHGEF7_uc001vry.1_Missense_Mutation_p.D170Y	p.D754Y	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		20	2510	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		754					B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	c.2260G>T	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322151	0.81580	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000218789;ENST00000375723;ENST00000478679	T;T;T;T;T;T	0.63580	0.54;0.54;0.54;0.57;0.5;-0.05	5.35	5.35	0.76521	.	0.120531	0.53938	D	0.000051	T	0.67711	0.2922	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.993;0.993;0.999;1.0	P;D;D;P;D	0.65874	0.887;0.911;0.911;0.903;0.939	T	0.72171	-0.4371	10	0.62326	D	0.03	.	19.0849	0.93200	0.0:0.0:1.0:0.0	.	498;576;704;754;733	E9PDQ5;Q14155-6;Q14155-2;Q14155;Q14155-3	.;.;.;ARHG7_HUMAN;.	Y	733;754;704;576;576;498	ENSP00000325994:D733Y;ENSP00000364893:D754Y;ENSP00000364891:D704Y;ENSP00000218789:D576Y;ENSP00000364875:D576Y;ENSP00000417596:D498Y	ENSP00000218789:D576Y	D	+	1	0	ARHGEF7	110742528	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.096000	0.76960	2.506000	0.84524	0.650000	0.86243	GAC		PASS	0.552	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		18	55	18	55	---	---	---	---
OR11H4	390442	broad.mit.edu	37	14	20711630	20711630	+	Missense_Mutation	SNP	C	C	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr14:20711630C>A	ENST00000315409.2	+	1	733	c.680C>A	c.(679-681)tCc>tAc	p.S227Y		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S227Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		ATTCTTCGATCCTATATCCTG	0.438																																						uc010tld.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(679-681)TCC>TAC		olfactory receptor, family 11, subfamily H,							213.0	205.0	208.0					14																	20711630		2203	4300	6503	SO:0001583	missense	390442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20711630C>A		CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"""GPCR / Class A : Olfactory receptors"""	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.680C>A	14.37:g.20711630C>A	ENSP00000318997:p.Ser227Tyr						p.S227Y	NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)	1	680	+	all_cancers(95;0.000888)		227			Helical; Name=5; (Potential).		B2RNQ4|Q6IF07	Missense_Mutation	SNP	ENST00000315409.2	37	c.680C>A	CCDS32034.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.326055	0.60743	.	.	ENSG00000176198	ENST00000315409	T	0.46063	0.88	4.88	4.88	0.63580	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000093	T	0.74794	0.3763	H	0.97390	3.995	0.40674	D	0.982246	D	0.69078	0.997	D	0.68483	0.958	D	0.84091	0.0390	10	0.87932	D	0	-20.5014	13.3833	0.60780	0.0:1.0:0.0:0.0	.	227	Q8NGC9	O11H4_HUMAN	Y	227	ENSP00000318997:S227Y	ENSP00000318997:S227Y	S	+	2	0	OR11H4	19781470	1.000000	0.71417	0.996000	0.52242	0.616000	0.37450	7.276000	0.78559	2.529000	0.85273	0.655000	0.94253	TCC		PASS	0.438	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410678.1			93	201	93	201	---	---	---	---
RNASE12	493901	broad.mit.edu	37	14	21058696	21058696	+	Missense_Mutation	SNP	T	T	C			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr14:21058696T>C	ENST00000556526.1	-	1	286	c.187A>G	c.(187-189)Aaa>Gaa	p.K63E	RP11-14J7.6_ENST00000553604.1_RNA|RNASE11_ENST00000432835.2_5'Flank|RNASE11_ENST00000555283.1_Intron|RNASE11_ENST00000553849.1_5'Flank|RP11-14J7.6_ENST00000554006.1_RNA|RP11-14J7.6_ENST00000556487.1_RNA|RNASE11_ENST00000398009.2_5'Flank|RP11-14J7.6_ENST00000554529.1_RNA|RNASE11_ENST00000555841.1_5'Flank|RNASE11_ENST00000610205.1_5'Flank|RP11-14J7.6_ENST00000554993.1_RNA|RNASE11_ENST00000398008.2_5'Flank	NM_001024822.2	NP_001019993.1	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	63						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)	p.K63E(1)		kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		TGCTCCTTTTTACAAGTGTGG	0.453																																						uc001vxt.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(187-189)AAA>GAA		ribonuclease, RNase A family, 12 (non-active)							145.0	123.0	130.0					14																	21058696		2203	4300	6503	SO:0001583	missense	493901					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21058696T>C		CCDS32037.1	14q11.1	2012-10-05			ENSG00000258436	ENSG00000258436		"""Ribonucleases, RNase A"""	24211	protein-coding gene	gene with protein product							Standard	NM_001024822		Approved		uc001vxt.3	Q5GAN4	OTTHUMG00000170991	ENST00000556526.1:c.187A>G	14.37:g.21058696T>C	ENSP00000450580:p.Lys63Glu					RNASE11_uc010ahv.2_5'Flank|RNASE11_uc010ahx.2_5'Flank|RNASE11_uc010ahw.2_5'Flank|RNASE11_uc001vxs.2_5'Flank|uc001vxu.1_RNA	p.K63E	NM_001024822	NP_001019993	Q5GAN4	RNS12_HUMAN	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)	1	287	-	all_cancers(95;0.00238)		63						Missense_Mutation	SNP	ENST00000556526.1	37	c.187A>G	CCDS32037.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.100419	0.76983	.	.	ENSG00000258436;ENSG00000206171	ENST00000556526;ENST00000382999	T;T	0.78481	-1.18;-1.18	5.09	5.09	0.68999	Ribonuclease A, domain (3);	0.115998	0.56097	D	0.000035	D	0.84160	0.5411	M	0.79805	2.47	0.24157	N	0.995678	P	0.51240	0.943	P	0.54346	0.749	T	0.78957	-0.1999	10	0.87932	D	0	-27.3504	11.1812	0.48629	0.0:0.0:0.0:1.0	.	63	Q5GAN4	RNS12_HUMAN	E	63	ENSP00000450580:K63E;ENSP00000372460:K63E	ENSP00000372460:K63E	K	-	1	0	RNASE12;AL163195.1	20128536	0.997000	0.39634	1.000000	0.80357	0.870000	0.49936	3.374000	0.52402	2.143000	0.66587	0.533000	0.62120	AAA		PASS	0.453	RNASE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411107.1			39	61	39	61	---	---	---	---
LRRC16B	90668	broad.mit.edu	37	14	24529408	24529408	+	Missense_Mutation	SNP	C	C	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr14:24529408C>T	ENST00000342740.5	+	24	2159	c.2005C>T	c.(2005-2007)Ccc>Tcc	p.P669S	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	669						cytoplasm (GO:0005737)		p.P669S(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CCAGACGTGCCCCCAGGAGCA	0.642																																						uc001wlj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(2005-2007)CCC>TCC		leucine rich repeat containing 16B							89.0	85.0	86.0					14																	24529408		2203	4300	6503	SO:0001583	missense	90668							g.chr14:24529408C>T	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.2005C>T	14.37:g.24529408C>T	ENSP00000340467:p.Pro669Ser					LRRC16B_uc001wlk.2_5'Flank	p.P669S	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	24	2162	+			669					Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	c.2005C>T	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.265196	0.23136	.	.	ENSG00000186648	ENST00000342740	T	0.40476	1.03	4.62	4.62	0.57501	.	0.071257	0.64402	D	0.000020	T	0.11836	0.0288	N	0.00308	-1.67	0.80722	D	1	B	0.22080	0.064	B	0.13407	0.009	T	0.24154	-1.0168	10	0.10902	T	0.67	-4.0641	12.8251	0.57714	0.0:1.0:0.0:0.0	.	669	Q8ND23	LR16B_HUMAN	S	669	ENSP00000340467:P669S	ENSP00000340467:P669S	P	+	1	0	LRRC16B	23599248	0.876000	0.30132	1.000000	0.80357	0.997000	0.91878	2.171000	0.42453	2.398000	0.81561	0.561000	0.74099	CCC		PASS	0.642	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		8	58	8	58	---	---	---	---
CMA1	1215	broad.mit.edu	37	14	24975443	24975443	+	Missense_Mutation	SNP	A	A	G			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr14:24975443A>G	ENST00000250378.3	-	4	420	c.391T>C	c.(391-393)Ttc>Ctc	p.F131L	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Missense_Mutation_p.F20L	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	131	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.			FP -> AV (in Ref. 3; AA sequence). {ECO:0000305}.	angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.F131L(1)		kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		TGGGATGGGAAGGGGAGTGTC	0.567																																						uc001wpp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(391-393)TTC>CTC		chymase 1, mast cell preproprotein							49.0	44.0	46.0					14																	24975443		2203	4300	6503	SO:0001583	missense	1215				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr14:24975443A>G		CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.391T>C	14.37:g.24975443A>G	ENSP00000250378:p.Phe131Leu					CMA1_uc010alx.1_Missense_Mutation_p.F20L	p.F131L	NM_001836	NP_001827	P23946	CMA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0271)	4	421	-			131	FP -> AV (in Ref. 3; AA sequence).		Peptidase S1.		B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Missense_Mutation	SNP	ENST00000250378.3	37	c.391T>C	CCDS9630.1	.	.	.	.	.	.	.	.	.	.	A	1.213	-0.629139	0.03610	.	.	ENSG00000092009	ENST00000250378;ENST00000206446	T;T	0.38722	1.12;1.12	5.37	2.26	0.28386	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.560867	0.16288	N	0.221035	T	0.05364	0.0142	N	0.00014	-2.9	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40515	-0.9559	10	0.02654	T	1	.	6.209	0.20617	0.0874:0.0:0.5876:0.325	.	131	P23946	CMA1_HUMAN	L	131;20	ENSP00000250378:F131L;ENSP00000206446:F20L	ENSP00000206446:F20L	F	-	1	0	CMA1	24045283	0.919000	0.31177	0.111000	0.21465	0.003000	0.03518	0.111000	0.15458	0.816000	0.34421	-1.082000	0.02213	TTC		PASS	0.567	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2			7	27	7	27	---	---	---	---
FOXG1	2290	broad.mit.edu	37	14	29237474	29237474	+	Missense_Mutation	SNP	C	C	A	rs150277632		TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr14:29237474C>A	ENST00000313071.4	+	1	1188	c.989C>A	c.(988-990)aCc>aAc	p.T330N	FOXG1_ENST00000382535.3_Missense_Mutation_p.T330N|RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	330					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T330N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TACAACGGCACCACGTCGGCC	0.647																																						uc001wqe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)	4						c.(988-990)ACC>AAC		forkhead box G1							104.0	106.0	105.0					14																	29237474		2203	4300	6503	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237474C>A		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.989C>A	14.37:g.29237474C>A	ENSP00000339004:p.Thr330Asn						p.T330N	NM_005249	NP_005240	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	1	1188	+			330					A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.989C>A	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.267220	0.59540	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.93659	-3.26;-3.26	4.05	4.05	0.47172	.	0.605517	0.16529	U	0.210423	D	0.87346	0.6154	N	0.24115	0.695	0.50313	D	0.999864	P	0.37466	0.596	B	0.32211	0.142	D	0.86760	0.1966	10	0.36615	T	0.2	.	16.1573	0.81676	0.0:1.0:0.0:0.0	.	330	P55316	FOXG1_HUMAN	N	330	ENSP00000371975:T330N;ENSP00000339004:T330N	ENSP00000339004:T330N	T	+	2	0	FOXG1	28307225	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.888000	0.69758	1.957000	0.56846	0.491000	0.48974	ACC		PASS	0.647	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			35	83	35	83	---	---	---	---
CLEC14A	161198	broad.mit.edu	37	14	38724715	38724715	+	Silent	SNP	G	G	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr14:38724715G>A	ENST00000342213.2	-	1	859	c.513C>T	c.(511-513)tgC>tgT	p.C171C		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	171	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.C171C(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		ACTGGTACTTGCACAGGTAGC	0.682																																						uc001wum.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(511-513)TGC>TGT		C-type lectin domain family 14, member A							44.0	39.0	41.0					14																	38724715		2200	4287	6487	SO:0001819	synonymous_variant	161198					integral to membrane	sugar binding	g.chr14:38724715G>A		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.513C>T	14.37:g.38724715G>A							p.C171C	NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	860	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		171			Extracellular (Potential).|C-type lectin.		Q695G9|Q6PWT6|Q8N5V5	Silent	SNP	ENST00000342213.2	37	c.513C>T	CCDS9667.1																																																																																				PASS	0.682	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		24	59	24	59	---	---	---	---
SOS2	6655	broad.mit.edu	37	14	50585243	50585243	+	Missense_Mutation	SNP	C	C	A	rs58365465		TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr14:50585243C>A	ENST00000216373.5	-	23	4092	c.3818G>T	c.(3817-3819)cGa>cTa	p.R1273L	VCPKMT_ENST00000395859.2_5'Flank|SOS2_ENST00000543680.1_Missense_Mutation_p.R1240L|VCPKMT_ENST00000395860.2_5'Flank	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1273					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1273L(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CACATAGCATCGACGCGGTAC	0.517																																						uc001wxs.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(3817-3819)CGA>CTA		son of sevenless homolog 2							145.0	119.0	128.0					14																	50585243		2203	4300	6503	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50585243C>A	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.3818G>T	14.37:g.50585243C>A	ENSP00000216373:p.Arg1273Leu					SOS2_uc010ans.2_Missense_Mutation_p.R108L|SOS2_uc010tql.1_Missense_Mutation_p.R1240L|C14orf138_uc001wxn.1_5'Flank|C14orf138_uc001wxo.1_5'Flank|C14orf138_uc001wxp.1_5'Flank|C14orf138_uc001wxq.1_5'Flank	p.R1273L	NM_006939	NP_008870	Q07890	SOS2_HUMAN			23	3916	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		1273					B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.3818G>T	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.040609	0.55003	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.80653	-1.4;-1.27	4.63	3.74	0.42951	.	0.055914	0.64402	D	0.000001	T	0.75339	0.3836	L	0.55481	1.735	0.51233	D	0.999911	P;P	0.52842	0.956;0.956	B;B	0.40329	0.326;0.326	T	0.77520	-0.2557	10	0.52906	T	0.07	.	13.3684	0.60698	0.0:0.9217:0.0:0.0783	.	1240;1273	B7ZKT6;Q07890	.;SOS2_HUMAN	L	1273;1240	ENSP00000216373:R1273L;ENSP00000445328:R1240L	ENSP00000216373:R1273L	R	-	2	0	SOS2	49654993	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.772000	0.75001	1.234000	0.43709	0.563000	0.77884	CGA		PASS	0.517	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			12	37	12	37	---	---	---	---
MPP5	64398	broad.mit.edu	37	14	67768148	67768148	+	Missense_Mutation	SNP	G	G	C			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr14:67768148G>C	ENST00000261681.4	+	5	1280	c.619G>C	c.(619-621)Gaa>Caa	p.E207Q	MPP5_ENST00000555925.1_Missense_Mutation_p.E173Q	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	207	Interaction with LIN7C. {ECO:0000250}.|L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)	p.E207Q(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		GGAAGGACAAGAACTAACTGC	0.318																																						uc001xjc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(619-621)GAA>CAA		membrane protein, palmitoylated 5							74.0	72.0	73.0					14																	67768148		2203	4293	6496	SO:0001583	missense	64398				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding	g.chr14:67768148G>C	AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.619G>C	14.37:g.67768148G>C	ENSP00000261681:p.Glu207Gln					MPP5_uc001xjd.2_Missense_Mutation_p.E173Q|ATP6V1D_uc001xje.2_Intron	p.E207Q	NM_022474	NP_071919	Q8N3R9	MPP5_HUMAN		all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)	5	1085	+			207			Interaction with LIN7C (By similarity).|L27 2.		A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	ENST00000261681.4	37	c.619G>C	CCDS9779.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861335	0.91433	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	T;T	0.18960	2.18;2.24	5.77	5.77	0.91146	L27, C-terminal (1);L27 (2);	0.109676	0.64402	D	0.000003	T	0.54822	0.1882	M	0.88181	2.935	0.80722	D	1	D	0.69078	0.997	D	0.66716	0.946	T	0.60110	-0.7327	10	0.56958	D	0.05	.	20.0498	0.97621	0.0:0.0:1.0:0.0	.	207	Q8N3R9	MPP5_HUMAN	Q	207;173	ENSP00000261681:E207Q;ENSP00000451488:E173Q	ENSP00000261681:E207Q	E	+	1	0	MPP5	66837901	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.892000	0.92491	2.734000	0.93682	0.650000	0.86243	GAA		PASS	0.318	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412498.1	NM_022474		7	38	7	38	---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75265315	75265315	+	Silent	SNP	A	A	G			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr14:75265315A>G	ENST00000325680.7	+	5	3439	c.3315A>G	c.(3313-3315)gcA>gcG	p.A1105A	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Silent_p.A910A	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	910	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.A1105A(1)|p.A910A(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ACAGGGGTGCAGCTGGCAGCC	0.617																																						uc001xqj.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(3313-3315)GCA>GCG		YLP motif containing 1							48.0	57.0	54.0					14																	75265315		1940	4132	6072	SO:0001819	synonymous_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75265315A>G	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.3315A>G	14.37:g.75265315A>G						YLPM1_uc001xql.3_RNA	p.A1105A	NM_019589	NP_062535	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	5	3439	+			910			Arg-rich.		P49752|Q96I64|Q9P1V7	Silent	SNP	ENST00000325680.7	37	c.3315A>G	CCDS45135.1																																																																																				PASS	0.617	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		9	17	9	17	---	---	---	---
IGHV4-59	28392	broad.mit.edu	37	14	107083364	107083364	+	RNA	SNP	G	G	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr14:107083364G>T	ENST00000455737.1	-	0	279									immunoglobulin heavy variable 4-59																		TCTTGAGGGAGGGGTTGTAGT	0.542																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							63.0	64.0	63.0					14																	107083364		1807	4040	5847			8755							g.chr14:107083364G>T	L10088		14q32.33	2012-02-08			ENSG00000224373	ENSG00000224373		"""Immunoglobulins / IGH locus"""	5654	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151973		14.37:g.107083364G>T														113		-									RNA	SNP	ENST00000455737.1	37	c.5429C>A																																																																																					PASS	0.542	IGHV4-59-002	KNOWN	basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324620.1	NG_001019		27	81	27	81	---	---	---	---
TUBGCP5	114791	broad.mit.edu	37	15	22848885	22848885	+	Missense_Mutation	SNP	G	G	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr15:22848885G>T	ENST00000283645.4	+	10	1062	c.932G>T	c.(931-933)cGa>cTa	p.R311L	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Missense_Mutation_p.R311L	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	311					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.R311L(1)		breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		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;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AGCTGTTTACGATCTGTGCTG	0.423																																						uc001yur.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(931-933)CGA>CTA		tubulin, gamma complex associated protein 5							155.0	138.0	144.0					15																	22848885		2203	4300	6503	SO:0001583	missense	114791				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr15:22848885G>T	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.932G>T	15.37:g.22848885G>T	ENSP00000283645:p.Arg311Leu					TUBGCP5_uc001yuq.2_Missense_Mutation_p.R311L|TUBGCP5_uc010axz.1_5'UTR	p.R311L	NM_052903	NP_443135	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	10	1062	+		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)	311					E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	ENST00000283645.4	37	c.932G>T	CCDS10008.1	.	.	.	.	.	.	.	.	.	.	.	16.89	3.248699	0.59103	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.09255	3.0;3.0	5.55	3.63	0.41609	.	0.142246	0.45867	D	0.000330	T	0.10035	0.0246	L	0.36672	1.1	0.22701	N	0.998832	P;P	0.44776	0.843;0.843	P;P	0.44946	0.465;0.465	T	0.13710	-1.0499	10	0.09590	T	0.72	-8.2865	11.2251	0.48880	0.0692:0.1282:0.8025:0.0	.	311;311	Q96RT8;E9PB12	GCP5_HUMAN;.	L	311	ENSP00000283645:R311L;ENSP00000409217:R311L	ENSP00000283645:R311L	R	+	2	0	TUBGCP5	20400326	1.000000	0.71417	0.456000	0.27044	0.890000	0.51754	4.275000	0.58927	0.770000	0.33336	0.655000	0.94253	CGA		PASS	0.423	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		11	48	11	48	---	---	---	---
SLC12A6	9990	broad.mit.edu	37	15	34549958	34549958	+	Missense_Mutation	SNP	T	T	C			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr15:34549958T>C	ENST00000354181.3	-	6	1067	c.575A>G	c.(574-576)tAc>tGc	p.Y192C	SLC12A6_ENST00000558589.1_Missense_Mutation_p.Y183C|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000397707.2_Missense_Mutation_p.Y177C|SLC12A6_ENST00000451844.2_Intron|SLC12A6_ENST00000397702.2_Missense_Mutation_p.Y133C|SLC12A6_ENST00000558667.1_Missense_Mutation_p.Y192C|SLC12A6_ENST00000560164.1_Intron|SLC12A6_ENST00000560611.1_Missense_Mutation_p.Y192C|SLC12A6_ENST00000458406.2_Missense_Mutation_p.Y133C|SLC12A6_ENST00000290209.5_Missense_Mutation_p.Y141C			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	192					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)	p.Y141C(1)|p.Y183C(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	ACATGGGAGGTAGACACCCAT	0.393																																						uc001zhw.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|ovary(1)|skin(1)	7						c.(574-576)TAC>TGC		solute carrier family 12, member 6 isoform a	Potassium Chloride(DB00761)						48.0	45.0	46.0					15																	34549958		2201	4298	6499	SO:0001583	missense	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34549958T>C	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.575A>G	15.37:g.34549958T>C	ENSP00000346112:p.Tyr192Cys					SLC12A6_uc001zhv.2_Missense_Mutation_p.Y141C|SLC12A6_uc001zhx.2_Missense_Mutation_p.Y177C|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.Y133C|SLC12A6_uc001zib.2_Missense_Mutation_p.Y183C|SLC12A6_uc001zic.2_Missense_Mutation_p.Y192C|SLC12A6_uc010bau.2_Missense_Mutation_p.Y192C|SLC12A6_uc001zid.2_Missense_Mutation_p.Y133C|SLC12A6_uc001zhu.2_Intron	p.Y192C	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	5	739	-		all_lung(180;2.78e-08)	192			Helical; (Potential).		A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	c.575A>G	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.606095	0.87157	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406	D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07	5.55	5.55	0.83447	Amino acid permease domain (1);	0.000000	0.64402	D	0.000002	D	0.99357	0.9774	H	0.95004	3.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.987;0.997;0.987	D	0.98750	1.0720	10	0.87932	D	0	.	14.8115	0.70000	0.0:0.0:0.0:1.0	.	177;192;141	Q9UHW9-3;Q9UHW9;A0AV76	.;S12A6_HUMAN;.	C	141;177;183;133;133	ENSP00000290209:Y141C;ENSP00000380819:Y177C;ENSP00000380814:Y133C;ENSP00000387725:Y133C	ENSP00000290209:Y141C	Y	-	2	0	SLC12A6	32337250	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.819000	0.86621	2.326000	0.78906	0.533000	0.62120	TAC		PASS	0.393	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		6	16	6	16	---	---	---	---
HERC1	8925	broad.mit.edu	37	15	64046826	64046826	+	Missense_Mutation	SNP	C	C	G			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr15:64046826C>G	ENST00000443617.2	-	7	1739	c.1652G>C	c.(1651-1653)cGt>cCt	p.R551P		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	551					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R551P(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGGAATGTTACGACTATTGCT	0.373																																						uc002amp.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(1651-1653)CGT>CCT		hect domain and RCC1-like domain 1							163.0	149.0	154.0					15																	64046826		1926	4120	6046	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64046826C>G	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.1652G>C	15.37:g.64046826C>G	ENSP00000390158:p.Arg551Pro					HERC1_uc010uil.1_Intron|HERC1_uc010bgt.1_Missense_Mutation_p.R551P	p.R551P	NM_003922	NP_003913	Q15751	HERC1_HUMAN			7	1800	-			551			RCC1 4.		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.1652G>C	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785840	0.90282	.	.	ENSG00000103657	ENST00000443617	D	0.85556	-2.0	5.25	5.25	0.73442	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.64402	U	0.000002	D	0.93318	0.7870	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.94093	0.7355	10	0.72032	D	0.01	.	18.846	0.92208	0.0:1.0:0.0:0.0	.	551;551	C9JUT5;Q15751	.;HERC1_HUMAN	P	551	ENSP00000390158:R551P	ENSP00000390158:R551P	R	-	2	0	HERC1	61833879	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.818000	0.86416	2.466000	0.83321	0.467000	0.42956	CGT		PASS	0.373	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		12	50	12	50	---	---	---	---
THSD4	79875	broad.mit.edu	37	15	72040852	72040852	+	Missense_Mutation	SNP	G	G	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr15:72040852G>A	ENST00000355327.3	+	14	2468	c.2334G>A	c.(2332-2334)atG>atA	p.M778I	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.M418I|THSD4_ENST00000261862.6_Missense_Mutation_p.M778I			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	778	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)	p.M778I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AATGCAACATGAAGCTCCGGC	0.572																																						uc002atb.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2332-2334)ATG>ATA		thrombospondin, type I, domain containing 4							149.0	170.0	163.0					15																	72040852		2178	4273	6451	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72040852G>A	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2334G>A	15.37:g.72040852G>A	ENSP00000347484:p.Met778Ile					THSD4_uc002ate.2_Missense_Mutation_p.M418I	p.M778I	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN			13	2413	+			778			TSP type-1 3.		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.2334G>A	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	G	17.26	3.343679	0.61073	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.53206	0.63;0.63;0.63	4.68	4.68	0.58851	.	.	.	.	.	T	0.41442	0.1159	L	0.29908	0.895	0.51482	D	0.999925	B;P	0.45957	0.042;0.869	B;P	0.44359	0.118;0.447	T	0.30001	-0.9993	9	0.38643	T	0.18	.	15.4257	0.75048	0.0:0.0:1.0:0.0	.	418;778	B4DR13;Q6ZMP0	.;THSD4_HUMAN	I	778;778;418	ENSP00000347484:M778I;ENSP00000261862:M778I;ENSP00000350413:M418I	ENSP00000261862:M778I	M	+	3	0	THSD4	69827906	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.565000	0.82337	2.313000	0.78055	0.563000	0.77884	ATG		PASS	0.572	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		13	25	13	25	---	---	---	---
ACSM5	54988	broad.mit.edu	37	16	20441101	20441101	+	Missense_Mutation	SNP	A	A	G			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr16:20441101A>G	ENST00000331849.4	+	8	1250	c.1103A>G	c.(1102-1104)gAa>gGa	p.E368G		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	368					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.E368G(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GAGCTGTACGAAGGCTATGGC	0.617																																						uc002dhe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1102-1104)GAA>GGA		acyl-CoA synthetase medium-chain family member 5							72.0	77.0	75.0					16																	20441101		2203	4299	6502	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20441101A>G		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1103A>G	16.37:g.20441101A>G	ENSP00000327916:p.Glu368Gly						p.E368G	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			8	1250	+			368			ATP (By similarity).		Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.1103A>G	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	A	15.74	2.924015	0.52653	.	.	ENSG00000183549	ENST00000331849	T	0.52983	0.64	4.44	4.44	0.53790	AMP-dependent synthetase/ligase (1);	0.000000	0.56097	D	0.000023	T	0.76550	0.4003	H	0.95294	3.65	0.53005	D	0.999966	D	0.89917	1.0	D	0.97110	1.0	D	0.83792	0.0231	10	0.87932	D	0	-18.591	12.9798	0.58557	1.0:0.0:0.0:0.0	.	368	Q6NUN0	ACSM5_HUMAN	G	368	ENSP00000327916:E368G	ENSP00000327916:E368G	E	+	2	0	ACSM5	20348602	1.000000	0.71417	0.984000	0.44739	0.038000	0.13279	7.234000	0.78134	1.746000	0.51805	0.455000	0.32223	GAA		PASS	0.617	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		5	33	5	33	---	---	---	---
KARS	3735	broad.mit.edu	37	16	75663434	75663434	+	Missense_Mutation	SNP	C	C	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr16:75663434C>T	ENST00000302445.3	-	12	1469	c.1430G>A	c.(1429-1431)cGc>cAc	p.R477H	KARS_ENST00000319410.5_Missense_Mutation_p.R505H|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	477					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)	p.R477H(1)|p.R505H(1)		kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	CTCTTTAGAGCGGTGCCTAGG	0.473																																						uc002feq.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1429-1431)CGC>CAC		lysyl-tRNA synthetase isoform 2	L-Lysine(DB00123)						144.0	149.0	147.0					16																	75663434		2198	4300	6498	SO:0001583	missense	3735				interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	g.chr16:75663434C>T	AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"""Aminoacyl tRNA synthetases / Class II"""	6215	protein-coding gene	gene with protein product	"""lysine tRNA ligase"""	601421	"""deafness, autosomal recessive 89"""	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.1430G>A	16.37:g.75663434C>T	ENSP00000303043:p.Arg477His					KARS_uc002fer.2_Missense_Mutation_p.R505H|KARS_uc002fes.2_Missense_Mutation_p.R321H	p.R477H	NM_005548	NP_005539	Q15046	SYK_HUMAN			12	1478	-			477					A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	ENST00000302445.3	37	c.1430G>A	CCDS10923.1	.	.	.	.	.	.	.	.	.	.	C	33	5.275016	0.95459	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	D;D	0.84800	-1.9;-1.9	5.81	5.81	0.92471	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.95395	0.8505	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.70935	0.75;0.971	D	0.96448	0.9332	10	0.66056	D	0.02	-27.0592	18.6671	0.91495	0.0:1.0:0.0:0.0	.	505;477	Q15046-2;Q15046	.;SYK_HUMAN	H	505;477	ENSP00000325448:R505H;ENSP00000303043:R477H	ENSP00000303043:R477H	R	-	2	0	KARS	74220935	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.792000	0.85828	2.752000	0.94435	0.557000	0.71058	CGC		PASS	0.473	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548		18	131	18	131	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81151074	81151074	+	RNA	SNP	C	C	T	rs538576660	byFrequency	TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr16:81151074C>T	ENST00000534142.1	-	0	1062				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGATGATGGCCAGCTCCAGAA	0.617																																						uc002fgh.1																			0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(6673-6675)CTG>CTA		polycystin 1-like 2 isoform a							83.0	85.0	85.0					16																	81151074		1958	4147	6105			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81151074C>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81151074C>T						PKD1L2_uc002fgf.1_Silent_p.L25L|PKD1L2_uc002fgg.1_RNA	p.L2225L	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			41	6675	-			2225			Helical; (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000534142.1	37	c.6675G>A																																																																																					PASS	0.617	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			28	59	28	59	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr17:7578442T>C	ENST00000269305.4	-	5	677	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000420246.2_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000574684.1_5'Flank	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	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(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)	TGACTGCTTGTAGATGGCCAT	0.622		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		183	Substitution - Missense(167)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)	p.Y163C(95)|p.Y163N(17)|p.Y163H(17)|p.Y163*(7)|p.0?(7)|p.Y163S(4)|p.Y163Y(3)|p.Y163fs*1(2)|p.Y163D(2)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.I162_Y163delIY(1)	lung(49)|breast(34)|haematopoietic_and_lymphoid_tissue(14)|ovary(14)|urinary_tract(13)|large_intestine(10)|upper_aerodigestive_tract(9)|central_nervous_system(7)|oesophagus(7)|stomach(6)|biliary_tract(6)|bone(4)|pancreas(3)|soft_tissue(2)|liver(2)|endometrium(1)|salivary_gland(1)|prostate(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	CM942135	TP53	M	rs148924904	c.(487-489)TAC>TGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							53.0	54.0	53.0					17																	7578442		2203	4300	6503	SO:0001583	missense	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.chr17:7578442T>C	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.488A>G	17.37:g.7578442T>C	ENSP00000269305:p.Tyr163Cys	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_Missense_Mutation_p.Y163C|TP53_uc002gih.2_Missense_Mutation_p.Y163C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y31C|TP53_uc010cng.1_Missense_Mutation_p.Y31C|TP53_uc002gii.1_Missense_Mutation_p.Y31C|TP53_uc010cnh.1_Missense_Mutation_p.Y163C|TP53_uc010cni.1_Missense_Mutation_p.Y163C|TP53_uc002gij.2_Missense_Mutation_p.Y163C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y70C|TP53_uc002gio.2_Missense_Mutation_p.Y31C|TP53_uc010vug.1_Missense_Mutation_p.Y124C	p.Y163C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	682	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	163		Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; 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	Missense_Mutation	SNP	ENST00000269305.4	37	c.488A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.567047	0.45694	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.59	3.32	0.38043	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99746	0.9899	M	0.70595	2.14	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.996;0.999;0.983;0.999;1.0;0.999;0.994	D	0.98089	1.0408	10	0.87932	D	0	-16.6607	9.5833	0.39501	0.2797:0.0:0.0:0.7203	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163C;ENSP00000352610:Y163C;ENSP00000269305:Y163C;ENSP00000398846:Y163C;ENSP00000391127:Y163C;ENSP00000391478:Y163C;ENSP00000425104:Y31C;ENSP00000423862:Y70C;ENSP00000424104:Y163C	ENSP00000269305:Y163C	Y	-	2	0	TP53	7519167	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	5.141000	0.64814	0.446000	0.26666	0.533000	0.62120	TAC		PASS	0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	27	14	27	---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12626177	12626177	+	Missense_Mutation	SNP	G	G	C			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr17:12626177G>C	ENST00000343344.4	+	5	267	c.267G>C	c.(265-267)gaG>gaC	p.E89D	AC005358.1_ENST00000609971.1_5'Flank|MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000425538.1_Missense_Mutation_p.E89D			Q8IZQ8	MYCD_HUMAN	myocardin	89					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.E89D(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCACTGCAGAGAGGTCCATTC	0.453																																						uc002gnn.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|skin(2)|ovary(1)	5						c.(265-267)GAG>GAC		myocardin isoform 2							127.0	136.0	133.0					17																	12626177		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12626177G>C	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.267G>C	17.37:g.12626177G>C	ENSP00000341835:p.Glu89Asp					MYOCD_uc002gno.2_Missense_Mutation_p.E89D|MYOCD_uc002gnp.1_5'UTR	p.E89D	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	5	566	+			89					Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.267G>C	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018856	0.54576	.	.	ENSG00000141052	ENST00000425538;ENST00000343344	T	0.51574	0.7	5.46	4.26	0.50523	.	0.113387	0.64402	D	0.000019	T	0.40448	0.1117	L	0.39397	1.21	0.80722	D	1	P;B	0.50710	0.938;0.255	P;B	0.46975	0.533;0.024	T	0.13282	-1.0515	10	0.23302	T	0.38	-38.6973	8.4385	0.32801	0.2226:0.0:0.7774:0.0	.	89;89	Q8IZQ8-3;Q8IZQ8	.;MYCD_HUMAN	D	89	ENSP00000341835:E89D	ENSP00000341835:E89D	E	+	3	2	MYOCD	12566902	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.092000	0.41700	1.192000	0.43071	0.655000	0.94253	GAG		PASS	0.453	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		27	65	27	65	---	---	---	---
SLC5A10	125206	broad.mit.edu	37	17	18862955	18862955	+	Silent	SNP	G	G	C			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr17:18862955G>C	ENST00000395645.3	+	4	345	c.327G>C	c.(325-327)gtG>gtC	p.V109V	SLC5A10_ENST00000395647.2_Silent_p.V109V|SLC5A10_ENST00000317977.6_Silent_p.V53V|SLC5A10_ENST00000395642.1_Silent_p.V53V|SLC5A10_ENST00000417251.2_Silent_p.V109V|SLC5A10_ENST00000395643.2_Silent_p.V109V	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	109					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.V109V(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						GGGTGTTCGTGCCCATCTACA	0.607																																						uc002guu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(325-327)GTG>GTC		solute carrier family 5 (sodium/glucose							129.0	106.0	114.0					17																	18862955		2203	4300	6503	SO:0001819	synonymous_variant	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18862955G>C		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.327G>C	17.37:g.18862955G>C						SLC5A10_uc002gur.1_Silent_p.V53V|SLC5A10_uc002gut.1_Silent_p.V109V|SLC5A10_uc002guv.1_Silent_p.V109V|SLC5A10_uc010vyl.1_Silent_p.V109V	p.V109V	NM_001042450	NP_001035915	A0PJK1	SC5AA_HUMAN			4	368	+			109			Helical; (Potential).		A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Silent	SNP	ENST00000395645.3	37	c.327G>C	CCDS42275.1																																																																																				PASS	0.607	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		11	30	11	30	---	---	---	---
SLC35G3	146861	broad.mit.edu	37	17	33520469	33520469	+	Silent	SNP	T	T	C			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr17:33520469T>C	ENST00000297307.5	-	1	943	c.858A>G	c.(856-858)ctA>ctG	p.L286L	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	286	EamA 2.					integral component of membrane (GO:0016021)		p.L286L(1)									CCTCGGAATGTAGGACAGCGC	0.592																																						uc002hjd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(856-858)CTA>CTG		acyl-malonyl condensing enzyme 1							207.0	184.0	192.0					17																	33520469		2203	4300	6503	SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33520469T>C	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.858A>G	17.37:g.33520469T>C							p.L286L	NM_152462	NP_689675	Q8N808	AMAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0917)	1	944	-			286			DUF6 2.|Helical; (Potential).		B9EGE9	Silent	SNP	ENST00000297307.5	37	c.858A>G	CCDS11293.1																																																																																				PASS	0.592	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		3	111	3	111	---	---	---	---
MYO19	80179	broad.mit.edu	37	17	34856770	34856770	+	Silent	SNP	C	C	G			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr17:34856770C>G	ENST00000431794.3	-	23	2799	c.2277G>C	c.(2275-2277)cgG>cgC	p.R759R	MYO19_ENST00000268852.9_Silent_p.R559R	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	759	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R759R(2)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCTCCAGCACCCGGGCACGCC	0.667																																						uc010wcy.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(2275-2277)CGG>CGC		myosin XIX isoform 2							20.0	23.0	22.0					17																	34856770		2124	4239	6363	SO:0001819	synonymous_variant	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34856770C>G	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.2277G>C	17.37:g.34856770C>G						MYO19_uc002hmw.2_Silent_p.R559R|MYO19_uc010cuu.2_RNA	p.R759R	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	24	3269	-		Breast(25;0.00957)|Ovarian(249;0.17)	759			IQ 1.		Q59GS4|Q9H5X2	Silent	SNP	ENST00000431794.3	37	c.2277G>C	CCDS54112.1																																																																																				PASS	0.667	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		4	8	4	8	---	---	---	---
TRIM37	4591	broad.mit.edu	37	17	57126641	57126641	+	Silent	SNP	T	T	C			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr17:57126641T>C	ENST00000262294.7	-	15	1687	c.1428A>G	c.(1426-1428)gcA>gcG	p.A476A	TRIM37_ENST00000393066.3_Silent_p.A476A|TRIM37_ENST00000393065.2_Silent_p.A442A|TRIM37_ENST00000376149.3_Silent_p.A354A	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	476					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A476A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TGTCAGAGCATGCAGACTTCT	0.453									Mulibrey Nanism																													uc002iwy.3																			1	Substitution - coding silent(1)		lung(1)	lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7						c.(1426-1428)GCA>GCG		tripartite motif-containing 37 protein							148.0	126.0	133.0					17																	57126641		2203	4300	6503	SO:0001819	synonymous_variant	4591	Mulibrey_Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57126641T>C	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.1428A>G	17.37:g.57126641T>C						TRIM37_uc002iwz.3_Silent_p.A476A|TRIM37_uc002ixa.3_Silent_p.A354A|TRIM37_uc010woc.1_Silent_p.A442A	p.A476A	NM_001005207	NP_001005207	O94972	TRI37_HUMAN			15	1872	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		476					Q7Z3E6|Q8IYF7|Q8WYF7	Silent	SNP	ENST00000262294.7	37	c.1428A>G	CCDS32694.1																																																																																				PASS	0.453	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		63	36	63	36	---	---	---	---
ABCA6	23460	broad.mit.edu	37	17	67079035	67079035	+	Missense_Mutation	SNP	G	G	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr17:67079035G>A	ENST00000284425.2	-	36	4769	c.4595C>T	c.(4594-4596)cCa>cTa	p.P1532L	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1532					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.P1532Q(1)|p.P1532L(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TGCAGCCTGTGGGAAAAGCTT	0.443																																						uc002jhw.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7						c.(4594-4596)CCA>CTA		ATP-binding cassette, sub-family A, member 6							209.0	211.0	210.0					17																	67079035		2203	4300	6503	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67079035G>A	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4595C>T	17.37:g.67079035G>A	ENSP00000284425:p.Pro1532Leu						p.P1532L	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			36	4770	-	Breast(10;5.65e-12)		1532					Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.4595C>T	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619840	0.87460	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	D	0.86694	-2.16	5.03	5.03	0.67393	.	0.000000	0.49305	D	0.000153	D	0.96090	0.8726	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97282	0.9918	10	0.87932	D	0	.	17.8989	0.88897	0.0:0.0:1.0:0.0	.	1532	Q8N139	ABCA6_HUMAN	L	1532;392	ENSP00000284425:P1532L	ENSP00000284425:P1532L	P	-	2	0	ABCA6	64590630	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	6.883000	0.75595	2.787000	0.95880	0.650000	0.86243	CCA		PASS	0.443	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		90	139	90	139	---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5398051	5398051	+	Missense_Mutation	SNP	C	C	G			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr18:5398051C>G	ENST00000341928.2	-	17	2781	c.2441G>C	c.(2440-2442)gGg>gCg	p.G814A	EPB41L3_ENST00000544123.1_Missense_Mutation_p.G645A|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000542146.1_Missense_Mutation_p.G119A|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.G814A|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000427684.2_Missense_Mutation_p.G111A	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	814	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.G814A(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AGAAGTAACCCCTCCTATGAA	0.448																																						uc002kmt.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(2440-2442)GGG>GCG		erythrocyte membrane protein band 4.1-like 3							213.0	211.0	212.0					18																	5398051		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5398051C>G	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2441G>C	18.37:g.5398051C>G	ENSP00000343158:p.Gly814Ala					EPB41L3_uc010wzh.1_Missense_Mutation_p.G645A|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Missense_Mutation_p.G119A|EPB41L3_uc010wzf.1_Missense_Mutation_p.G111A|EPB41L3_uc010wzg.1_Missense_Mutation_p.G86A|EPB41L3_uc010dkr.2_Missense_Mutation_p.G206A	p.G814A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			17	2527	-			814			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2441G>C	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.147745	0.37923	.	.	ENSG00000082397	ENST00000341928;ENST00000544123;ENST00000427684;ENST00000542146;ENST00000342933	T;D;T;T;T	0.82081	-1.39;-1.57;-0.16;-0.19;-1.39	6.17	5.3	0.74995	.	0.338765	0.36591	N	0.002506	T	0.73606	0.3608	L	0.41027	1.25	0.43750	D	0.996252	B;B;B;B;B	0.23249	0.005;0.005;0.082;0.009;0.0	B;B;B;B;B	0.21360	0.006;0.007;0.034;0.006;0.002	T	0.66524	-0.5902	10	0.12103	T	0.63	.	10.9278	0.47201	0.0:0.8025:0.1309:0.0666	.	645;111;119;206;814	F5GX05;E7EUF8;F5H7W5;B7Z8M8;Q9Y2J2	.;.;.;.;E41L3_HUMAN	A	814;645;111;119;814	ENSP00000343158:G814A;ENSP00000441174:G645A;ENSP00000392195:G111A;ENSP00000442233:G119A;ENSP00000341138:G814A	ENSP00000343158:G814A	G	-	2	0	EPB41L3	5388051	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.319000	0.43788	1.612000	0.50221	0.655000	0.94253	GGG		PASS	0.448	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		49	95	49	95	---	---	---	---
CEP192	55125	broad.mit.edu	37	18	13089487	13089487	+	Missense_Mutation	SNP	A	A	C			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr18:13089487A>C	ENST00000325971.8	+	31	5831	c.4238A>C	c.(4237-4239)cAg>cCg	p.Q1413P	CEP192_ENST00000506447.1_Missense_Mutation_p.Q2009P|CEP192_ENST00000430049.2_Missense_Mutation_p.Q1534P|CEP192_ENST00000540847.2_3'UTR			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1413					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.Q2009P(1)|p.Q1413P(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATGATAAAACAGATACTTCCA	0.313																																						uc010xac.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(6025-6027)CAG>CCG		centrosomal protein 192kDa							97.0	95.0	95.0					18																	13089487		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13089487A>C	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.4238A>C	18.37:g.13089487A>C	ENSP00000317156:p.Gln1413Pro					CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.Q1534P|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.Q431P|CEP192_uc002krw.2_Missense_Mutation_p.Q158P|CEP192_uc002krx.2_Missense_Mutation_p.Q13P|CEP192_uc002kry.2_RNA	p.Q2009P	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN			33	6106	+			2009					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.6026A>C		.	.	.	.	.	.	.	.	.	.	A	3.128	-0.179157	0.06380	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.33865	1.39;1.39;1.39	4.94	2.54	0.30619	.	0.303860	0.31134	N	0.008198	T	0.26048	0.0635	L	0.45581	1.43	0.21220	N	0.999754	B;B;B;B	0.22146	0.004;0.065;0.002;0.002	B;B;B;B	0.15052	0.004;0.012;0.003;0.003	T	0.16394	-1.0404	10	0.36615	T	0.2	-1.464	5.2614	0.15576	0.6216:0.1417:0.2367:0.0	.	1534;2009;13;611	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	P	2009;1413;1413;1534;13	ENSP00000427550:Q2009P;ENSP00000317156:Q1413P;ENSP00000389190:Q1534P	ENSP00000317156:Q1413P	Q	+	2	0	CEP192	13079487	0.989000	0.36119	0.068000	0.19968	0.137000	0.21094	1.429000	0.34903	0.316000	0.23135	0.459000	0.35465	CAG		PASS	0.313	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		16	41	16	41	---	---	---	---
PSMA8	143471	broad.mit.edu	37	18	23772372	23772372	+	Silent	SNP	C	C	G			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr18:23772372C>G	ENST00000308268.6	+	7	857	c.768C>G	c.(766-768)gtC>gtG	p.V256V	PSMA8_ENST00000415576.2_Silent_p.V250V|PSMA8_ENST00000343848.6_Silent_p.V212V	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	256					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome core complex, alpha-subunit complex (GO:0019773)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)	p.V256V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			AGAAATCTGTCTAATTCTTAG	0.323																																						uc002kvq.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(766-768)GTC>GTG		proteasome alpha 8 subunit isoform 1							59.0	65.0	63.0					18																	23772372		2202	4299	6501	SO:0001819	synonymous_variant	143471				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity	g.chr18:23772372C>G	BC047355	CCDS32808.1, CCDS45842.1, CCDS45843.1	18q11.2	2006-12-18				ENSG00000154611		"""Proteasome (prosome, macropain) subunits"""	22985	protein-coding gene	gene with protein product							Standard	XM_005258199		Approved	MGC26605, PSMA7L	uc002kvq.3	Q8TAA3		ENST00000308268.6:c.768C>G	18.37:g.23772372C>G						PSMA8_uc002kvo.2_Silent_p.V212V|PSMA8_uc002kvp.2_Silent_p.V250V|PSMA8_uc002kvr.2_Silent_p.V224V	p.V256V	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)		7	882	+	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		256					B0YJ75|Q8IVP4|Q8TA98|Q8TAA2	Silent	SNP	ENST00000308268.6	37	c.768C>G	CCDS32808.1																																																																																				PASS	0.323	PSMA8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446255.1	NM_144662		6	19	6	19	---	---	---	---
DSG1	1828	broad.mit.edu	37	18	28923950	28923950	+	Missense_Mutation	SNP	A	A	G			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr18:28923950A>G	ENST00000257192.4	+	13	2095	c.1883A>G	c.(1882-1884)gAc>gGc	p.D628G	RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_5'UTR|RNU6-167P_ENST00000384292.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	628					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.D628G(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GAATGCATTGACAACTCAGGT	0.294																																						uc002kwp.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)	7						c.(1882-1884)GAC>GGC		desmoglein 1 preproprotein							112.0	103.0	106.0					18																	28923950		2203	4296	6499	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28923950A>G	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1883A>G	18.37:g.28923950A>G	ENSP00000257192:p.Asp628Gly					DSG1_uc010xbp.1_5'UTR	p.D628G	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		13	2095	+			628			Cytoplasmic (Potential).		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.1883A>G	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.046594	0.55110	.	.	ENSG00000134760	ENST00000257192	T	0.48201	0.82	4.98	4.98	0.66077	.	0.187918	0.38897	N	0.001540	T	0.35885	0.0947	L	0.29908	0.895	0.80722	D	1	P	0.45283	0.855	B	0.41988	0.372	T	0.09530	-1.0670	10	0.29301	T	0.29	.	11.2638	0.49099	1.0:0.0:0.0:0.0	.	628	Q02413	DSG1_HUMAN	G	628	ENSP00000257192:D628G	ENSP00000257192:D628G	D	+	2	0	DSG1	27177948	1.000000	0.71417	0.999000	0.59377	0.804000	0.45430	2.640000	0.46579	2.236000	0.73375	0.533000	0.62120	GAC		PASS	0.294	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		20	53	20	53	---	---	---	---
KLHL14	57565	broad.mit.edu	37	18	30321943	30321943	+	Missense_Mutation	SNP	G	G	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr18:30321943G>T	ENST00000359358.4	-	3	1455	c.1017C>A	c.(1015-1017)agC>agA	p.S339R	KLHL14_ENST00000358095.4_Missense_Mutation_p.S339R	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	339						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.S339R(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GAACCAAATTGCTGGGGAGCC	0.398																																						uc002kxm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1015-1017)AGC>AGA		kelch-like 14							78.0	72.0	74.0					18																	30321943		2203	4300	6503	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30321943G>T	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1017C>A	18.37:g.30321943G>T	ENSP00000352314:p.Ser339Arg					KLHL14_uc010dmd.1_5'UTR	p.S339R	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN			3	1405	-			339			Kelch 1.		A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.1017C>A	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.484101	0.44147	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.78816	-0.25;-1.21	6.1	5.13	0.70059	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.82715	0.5097	L	0.43152	1.355	0.58432	D	0.999993	D	0.61697	0.99	D	0.69142	0.962	T	0.82625	-0.0365	10	0.56958	D	0.05	.	13.897	0.63778	0.0979:0.0:0.9021:0.0	.	339	Q9P2G3	KLH14_HUMAN	R	339	ENSP00000352314:S339R;ENSP00000350808:S339R	ENSP00000350808:S339R	S	-	3	2	KLHL14	28575941	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.009000	0.49552	2.902000	0.99343	0.650000	0.86243	AGC		PASS	0.398	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			5	17	5	17	---	---	---	---
CREB3L3	84699	broad.mit.edu	37	19	4157049	4157049	+	Missense_Mutation	SNP	G	G	C			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr19:4157049G>C	ENST00000078445.2	+	3	361	c.214G>C	c.(214-216)Gac>Cac	p.D72H	CREB3L3_ENST00000602257.1_Missense_Mutation_p.D72H|CREB3L3_ENST00000602147.1_Missense_Mutation_p.D72H|CREB3L3_ENST00000252587.3_Missense_Mutation_p.D62H|CREB3L3_ENST00000595923.1_Missense_Mutation_p.D71H	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	72					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.D72H(1)		breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCTCTGGAGACTCACTGCC	0.632																																						uc002lzl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(214-216)GAC>CAC		cAMP responsive element binding protein 3-like							72.0	57.0	62.0					19																	4157049		2203	4300	6503	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4157049G>C		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.214G>C	19.37:g.4157049G>C	ENSP00000078445:p.Asp72His					CREB3L3_uc002lzm.2_Missense_Mutation_p.D62H|CREB3L3_uc010xib.1_Missense_Mutation_p.D63H|CREB3L3_uc010xic.1_Missense_Mutation_p.D63H	p.D72H	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	3	330	+			72			Cytoplasmic (Potential).		B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.214G>C	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057350	0.36277	.	.	ENSG00000060566	ENST00000078445;ENST00000381943;ENST00000252587	D;D	0.90133	-2.62;-2.62	5.05	3.97	0.46021	.	0.247350	0.39341	N	0.001399	D	0.93802	0.8018	M	0.72894	2.215	0.33130	D	0.543007	B;D;D;D	0.89917	0.352;1.0;1.0;1.0	B;D;D;D	0.78314	0.073;0.98;0.991;0.98	D	0.94608	0.7802	10	0.45353	T	0.12	-15.9071	11.1622	0.48522	0.0:0.187:0.813:0.0	.	72;72;71;72	Q68CJ9-3;B7ZL69;Q68CJ9-2;Q68CJ9	.;.;.;CR3L3_HUMAN	H	72;72;62	ENSP00000078445:D72H;ENSP00000252587:D62H	ENSP00000078445:D72H	D	+	1	0	CREB3L3	4108049	1.000000	0.71417	0.117000	0.21633	0.045000	0.14185	4.631000	0.61304	1.066000	0.40716	0.537000	0.68136	GAC		PASS	0.632	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		11	34	11	34	---	---	---	---
CATSPERD	257062	broad.mit.edu	37	19	5724856	5724856	+	Missense_Mutation	SNP	A	A	G			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr19:5724856A>G	ENST00000381624.3	+	2	170	c.109A>G	c.(109-111)Ata>Gta	p.I37V	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	37					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)		p.I37V(1)									GTTTAATCTGATACAGGACGT	0.403																																						uc002mda.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(109-111)ATA>GTA		transmembrane protein 146 precursor							217.0	202.0	207.0					19																	5724856		1920	4127	6047	SO:0001583	missense	257062					integral to membrane		g.chr19:5724856A>G	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.109A>G	19.37:g.5724856A>G	ENSP00000371037:p.Ile37Val					TMEM146_uc010duj.1_Intron	p.I37V	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			2	170	+			37			Extracellular (Potential).		Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.109A>G	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	a	1.449	-0.565565	0.03939	.	.	ENSG00000174898	ENST00000381624	T	0.21734	1.99	3.37	-6.74	0.01743	.	.	.	.	.	T	0.07683	0.0193	N	0.08118	0	0.09310	N	0.999997	B	0.06786	0.001	B	0.06405	0.002	T	0.33420	-0.9869	9	0.21540	T	0.41	.	6.1601	0.20360	0.1764:0.1418:0.5663:0.1155	.	37	Q86XM0	TM146_HUMAN	V	37	ENSP00000371037:I37V	ENSP00000371037:I37V	I	+	1	0	TMEM146	5675856	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-2.046000	0.01409	-2.364000	0.00607	-0.328000	0.08392	ATA		PASS	0.403	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		46	76	46	76	---	---	---	---
STXBP2	6813	broad.mit.edu	37	19	7707385	7707385	+	Missense_Mutation	SNP	G	G	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr19:7707385G>T	ENST00000221283.5	+	10	896	c.865G>T	c.(865-867)Gtg>Ttg	p.V289L	STXBP2_ENST00000441779.2_Missense_Mutation_p.V300L|STXBP2_ENST00000414284.2_Missense_Mutation_p.V286L	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	289					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)	p.V289L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGACTTGTGGGTGGAGCTTCG	0.662																																						uc002mha.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(865-867)GTG>TTG		syntaxin binding protein 2 isoform a							139.0	137.0	138.0					19																	7707385		2203	4300	6503	SO:0001583	missense	6813				leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	g.chr19:7707385G>T	U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.865G>T	19.37:g.7707385G>T	ENSP00000221283:p.Val289Leu					STXBP2_uc002mhb.3_Missense_Mutation_p.V286L|STXBP2_uc010dvj.2_RNA|STXBP2_uc010xjr.1_Missense_Mutation_p.V300L|STXBP2_uc010dvk.2_Missense_Mutation_p.V257L|STXBP2_uc002mhc.3_Missense_Mutation_p.V57L|STXBP2_uc002mhe.1_5'Flank	p.V289L	NM_006949	NP_008880	Q15833	STXB2_HUMAN			10	910	+			289					B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	37	c.865G>T	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	G	9.084	1.000022	0.19121	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.77229	-1.08;-1.08;-1.08	4.38	0.752	0.18398	.	0.224035	0.36268	N	0.002698	T	0.65238	0.2672	L	0.42245	1.32	0.51012	D	0.999901	B;B;B;B	0.09022	0.002;0.0;0.001;0.001	B;B;B;B	0.14578	0.011;0.001;0.007;0.011	T	0.58515	-0.7623	10	0.59425	D	0.04	-8.3887	5.7292	0.18030	0.1924:0.1615:0.646:0.0	.	300;255;286;289	E7EQD5;B4DY46;Q15833-2;Q15833	.;.;.;STXB2_HUMAN	L	289;286;300;289	ENSP00000221283:V289L;ENSP00000409471:V286L;ENSP00000413606:V300L	ENSP00000221283:V289L	V	+	1	0	STXBP2	7613385	1.000000	0.71417	0.998000	0.56505	0.072000	0.16883	1.555000	0.36277	0.417000	0.25871	0.591000	0.81541	GTG		PASS	0.662	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949		20	58	20	58	---	---	---	---
CYP2B6	1555	broad.mit.edu	37	19	41522660	41522660	+	Missense_Mutation	SNP	C	C	G			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr19:41522660C>G	ENST00000324071.4	+	9	1411	c.1404C>G	c.(1402-1404)atC>atG	p.I468M	CYP2B6_ENST00000330446.5_Missense_Mutation_p.I268M|CYP2B6_ENST00000593831.1_Missense_Mutation_p.I232M	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	468					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.I468M(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	CAGAAGACATCGATCTGACAC	0.577																																						uc002opr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1402-1404)ATC>ATG		cytochrome P450, family 2, subfamily B,	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						72.0	56.0	61.0					19																	41522660		2203	4300	6503	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41522660C>G	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.1404C>G	19.37:g.41522660C>G	ENSP00000324648:p.Ile468Met					CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.I268M	p.I468M	NM_000767	NP_000758	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		9	1411	+			468					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.1404C>G	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526271	0.44969	.	.	ENSG00000197408	ENST00000324071;ENST00000330446	T;T	0.70164	-0.46;-0.46	4.52	-7.22	0.01485	.	0.166990	0.39407	U	0.001380	T	0.74306	0.3699	M	0.72894	2.215	0.19300	N	0.999977	D;D	0.64830	0.994;0.991	D;D	0.68192	0.939;0.956	T	0.75637	-0.3249	10	0.87932	D	0	.	14.3679	0.66817	0.0:0.6938:0.0:0.3062	.	268;468	B4DWP3;P20813	.;CP2B6_HUMAN	M	468;268	ENSP00000324648:I468M;ENSP00000330650:I268M	ENSP00000324648:I468M	I	+	3	3	CYP2B6	46214500	0.003000	0.15002	0.070000	0.20053	0.016000	0.09150	-1.875000	0.01634	-2.001000	0.00964	-0.384000	0.06662	ATC		PASS	0.577	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		6	14	6	14	---	---	---	---
ZNF230	7773	broad.mit.edu	37	19	44512957	44512957	+	Missense_Mutation	SNP	A	A	G			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr19:44512957A>G	ENST00000429154.2	+	3	259	c.31A>G	c.(31-33)Aag>Gag	p.K11E	ZNF230_ENST00000585632.1_Missense_Mutation_p.K11E	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	11	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)	p.K11E(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AGTGACCTTCAAGGATGTGGC	0.522																																					GBM(175;914 2069 22996 47111 52600)	uc002oyb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(31-33)AAG>GAG		zinc finger protein 230							270.0	239.0	249.0					19																	44512957		2203	4300	6503	SO:0001583	missense	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44512957A>G	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.31A>G	19.37:g.44512957A>G	ENSP00000409318:p.Lys11Glu						p.K11E	NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN			3	282	+		Prostate(69;0.0352)	11			KRAB.		O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	ENST00000429154.2	37	c.31A>G	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	A	9.981	1.228125	0.22542	.	.	ENSG00000159882	ENST00000429154	T	0.01647	4.71	2.41	1.18	0.20946	Krueppel-associated box (4);	.	.	.	.	T	0.02970	0.0088	N	0.17594	0.5	0.18873	N	0.999988	D	0.76494	0.999	D	0.87578	0.998	T	0.51568	-0.8689	9	0.44086	T	0.13	.	2.5914	0.04843	0.5417:0.285:0.1733:0.0	.	11	Q9UIE0	ZN230_HUMAN	E	11	ENSP00000409318:K11E	ENSP00000409318:K11E	K	+	1	0	ZNF230	49204797	0.046000	0.20272	0.354000	0.25760	0.051000	0.14879	0.460000	0.21924	1.099000	0.41499	0.333000	0.21579	AAG		PASS	0.522	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			39	128	39	128	---	---	---	---
ZNF473	25888	broad.mit.edu	37	19	50550200	50550200	+	Missense_Mutation	SNP	A	A	G			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr19:50550200A>G	ENST00000595661.1	+	6	2995	c.2500A>G	c.(2500-2502)Aga>Gga	p.R834G	CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000270617.3_Missense_Mutation_p.R834G|ZNF473_ENST00000391821.2_Missense_Mutation_p.R834G|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Missense_Mutation_p.R822G			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	834					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R834G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CCAGCACCTGAGAGTTCACAC	0.517											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002prn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2500-2502)AGA>GGA		zinc finger protein 473							69.0	71.0	70.0					19																	50550200		2203	4300	6503	SO:0001583	missense	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50550200A>G	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.2500A>G	19.37:g.50550200A>G	ENSP00000472808:p.Arg834Gly		OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	970	ZNF473_uc002prm.2_Missense_Mutation_p.R834G|ZNF473_uc010ybo.1_Missense_Mutation_p.R822G	p.R834G	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	5	2737	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	834			C2H2-type 19.		A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	c.2500A>G	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.541303	0.45280	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.24723	1.84;1.84;1.84	4.38	3.37	0.38596	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.296437	0.24377	N	0.039042	T	0.48466	0.1501	M	0.87097	2.86	0.36785	D	0.884539	D	0.64830	0.994	D	0.66497	0.944	T	0.57335	-0.7829	10	0.66056	D	0.02	-12.4244	5.8368	0.18611	0.7967:0.0:0.2033:0.0	.	834	Q8WTR7	ZN473_HUMAN	G	834;834;822	ENSP00000270617:R834G;ENSP00000375697:R834G;ENSP00000388961:R822G	ENSP00000270617:R834G	R	+	1	2	ZNF473	55242012	0.000000	0.05858	0.686000	0.30086	0.456000	0.32438	0.007000	0.13174	1.020000	0.39573	0.533000	0.62120	AGA		PASS	0.517	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		7	43	7	43	---	---	---	---
SIGLEC7	27036	broad.mit.edu	37	19	51650535	51650535	+	Silent	SNP	C	C	A	rs555854580		TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr19:51650535C>A	ENST00000317643.6	+	6	1251	c.1182C>A	c.(1180-1182)ggC>ggA	p.G394G	SIGLEC7_ENST00000305628.7_Silent_p.G301G|SIGLEC7_ENST00000600577.1_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	394					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.G394G(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GAGACATAGGCATGAAGGATG	0.577																																						uc002pvv.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(1180-1182)GGC>GGA		sialic acid binding Ig-like lectin 7 isoform 1							132.0	103.0	113.0					19																	51650535		2203	4300	6503	SO:0001819	synonymous_variant	27036				cell adhesion	integral to plasma membrane	receptor activity|sugar binding	g.chr19:51650535C>A	AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.1182C>A	19.37:g.51650535C>A						SIGLEC7_uc002pvw.1_Silent_p.G301G|SIGLEC7_uc010eoq.1_RNA|SIGLEC7_uc010eor.1_Intron	p.G394G	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)	6	1251	+		all_neural(266;0.0199)	394			Cytoplasmic (Potential).		Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Silent	SNP	ENST00000317643.6	37	c.1182C>A	CCDS12826.1																																																																																				PASS	0.577	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	NM_016543		6	21	6	21	---	---	---	---
NLRP2	55655	broad.mit.edu	37	19	55512225	55512225	+	Missense_Mutation	SNP	C	C	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr19:55512225C>T	ENST00000543010.1	+	13	3291	c.3148C>T	c.(3148-3150)Ccc>Tcc	p.P1050S	NLRP2_ENST00000538819.1_Missense_Mutation_p.P1026S|NLRP2_ENST00000537859.1_Missense_Mutation_p.P1028S|NLRP2_ENST00000339757.7_Missense_Mutation_p.P1028S|NLRP2_ENST00000427260.2_Missense_Mutation_p.P1027S|NLRP2_ENST00000263437.6_Missense_Mutation_p.P1047S|NLRP2_ENST00000448584.2_Missense_Mutation_p.P1050S|NLRP2_ENST00000391721.4_Missense_Mutation_p.P1026S	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	1050					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)	p.P1050S(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAAACATCATCCCTGGGCAGA	0.408																																						uc002qij.2																			1	Substitution - Missense(1)	p.P1050H(1)	lung(1)	ovary(1)|skin(1)	2						c.(3148-3150)CCC>TCC		NLR family, pyrin domain containing 2							116.0	107.0	110.0					19																	55512225		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55512225C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.3148C>T	19.37:g.55512225C>T	ENSP00000445135:p.Pro1050Ser					NLRP2_uc010yfp.1_Missense_Mutation_p.P1027S|NLRP2_uc010esn.2_Missense_Mutation_p.P1026S|NLRP2_uc010eso.2_Missense_Mutation_p.P1047S|NLRP2_uc010esp.2_Missense_Mutation_p.P1028S	p.P1050S	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	13	3234	+			1050					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.3148C>T	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801984	0.31869	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.74526	-0.81;-0.72;-0.72;-0.81;-0.72;-0.85;-0.72;-0.84	2.98	1.92	0.25849	.	.	.	.	.	T	0.70159	0.3192	L	0.57536	1.79	0.09310	N	1	P;P;P;P;P	0.51057	0.798;0.872;0.941;0.872;0.798	B;P;P;P;B	0.46796	0.3;0.495;0.527;0.495;0.3	T	0.57791	-0.7750	9	0.31617	T	0.26	.	6.3282	0.21255	0.0:0.8589:0.0:0.1411	.	1027;1028;1047;1026;1050	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	S	1050;1026;1028;1050;1028;1027;1026;1047	ENSP00000445135:P1050S;ENSP00000375601:P1026S;ENSP00000344074:P1028S;ENSP00000409370:P1050S;ENSP00000440601:P1028S;ENSP00000402474:P1027S;ENSP00000441133:P1026S;ENSP00000263437:P1047S	ENSP00000263437:P1047S	P	+	1	0	NLRP2	60204037	0.004000	0.15560	0.002000	0.10522	0.006000	0.05464	0.746000	0.26275	0.813000	0.34350	0.556000	0.70494	CCC		PASS	0.408	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		18	49	18	49	---	---	---	---
NLRP5	126206	broad.mit.edu	37	19	56538983	56538983	+	Missense_Mutation	SNP	C	C	T	rs199475775		TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr19:56538983C>T	ENST00000390649.3	+	7	1384	c.1384C>T	c.(1384-1386)Cgt>Tgt	p.R462C		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	462	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.R462C(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CATGAACAACCGTGAGCTGCT	0.602																																						uc002qmj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(1384-1386)CGT>TGT		NACHT, LRR and PYD containing protein 5							40.0	44.0	43.0					19																	56538983		2107	4231	6338	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56538983C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1384C>T	19.37:g.56538983C>T	ENSP00000375063:p.Arg462Cys					NLRP5_uc002qmi.2_Missense_Mutation_p.R443C	p.R462C	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1384	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	462			NACHT.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.1384C>T	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.905434	0.33628	.	.	ENSG00000171487	ENST00000390649	T	0.75154	-0.91	2.72	-1.08	0.09936	.	1.724340	0.03827	N	0.268444	T	0.64875	0.2638	N	0.14661	0.345	0.09310	N	1	D	0.59357	0.985	P	0.53649	0.731	T	0.55186	-0.8180	10	0.72032	D	0.01	.	0.7449	0.00980	0.2488:0.3707:0.2108:0.1697	.	462	P59047	NALP5_HUMAN	C	462	ENSP00000375063:R462C	ENSP00000375063:R462C	R	+	1	0	NLRP5	61230795	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.285000	0.18883	-0.161000	0.10983	-0.345000	0.07892	CGT		PASS	0.602	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		6	25	6	25	---	---	---	---
SLC9A8	23315	broad.mit.edu	37	20	48491342	48491342	+	Silent	SNP	C	C	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr20:48491342C>A	ENST00000361573.2	+	11	1101	c.1059C>A	c.(1057-1059)acC>acA	p.T353T	SLC9A8_ENST00000417961.1_Silent_p.T369T|SLC9A8_ENST00000539601.1_Silent_p.T134T|SLC9A8_ENST00000541138.1_Silent_p.T53T			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	353					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)	p.T353T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CCCTCCGCACCGTGGCCTTCT	0.547																																						uc002xuv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1057-1059)ACC>ACA		sodium/hydrogen exchanger 8							254.0	188.0	211.0					20																	48491342		2203	4300	6503	SO:0001819	synonymous_variant	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48491342C>A	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.1059C>A	20.37:g.48491342C>A						SLC9A8_uc010zym.1_Silent_p.T53T|SLC9A8_uc010gic.2_Silent_p.T53T|SLC9A8_uc010gid.2_Intron	p.T353T	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		11	1269	+			353					B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Silent	SNP	ENST00000361573.2	37	c.1059C>A	CCDS13421.1																																																																																				PASS	0.547	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		25	77	25	77	---	---	---	---
DYRK1A	1859	broad.mit.edu	37	21	38844986	38844986	+	Splice_Site	SNP	G	G	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr21:38844986G>A	ENST00000398960.2	+	2	86	c.11G>A	c.(10-12)gGa>gAa	p.G4E	DYRK1A_ENST00000462274.1_3'UTR|DYRK1A_ENST00000398956.2_Splice_Site_p.G4E|DYRK1A_ENST00000321219.8_Splice_Site_p.G4E|DYRK1A_ENST00000338785.3_Splice_Site_p.G4E|DYRK1A_ENST00000451934.1_Splice_Site_p.G4E|DYRK1A_ENST00000339659.4_Splice_Site_p.G4E	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	4					circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)	p.G4E(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CTTCTTGTAGGAGGAGAGACT	0.393																																					Melanoma(114;464 1602 31203 43785 45765)	uc002ywk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)	4						c.(10-12)GGA>GAA		dual-specificity tyrosine-(Y)-phosphorylation							91.0	90.0	91.0					21																	38844986		2203	4300	6503	SO:0001630	splice_region_variant	1859				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	g.chr21:38844986G>A	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.11-1G>A	21.37:g.38844986G>A						DYRK1A_uc002ywg.1_RNA|DYRK1A_uc010gno.1_RNA|DYRK1A_uc002ywh.1_5'UTR|DYRK1A_uc002ywi.2_Missense_Mutation_p.G4E|DYRK1A_uc002ywj.2_Missense_Mutation_p.G4E|DYRK1A_uc002ywl.2_Missense_Mutation_p.G4E|DYRK1A_uc002ywm.2_Missense_Mutation_p.G4E	p.G4E	NM_001396	NP_001387	Q13627	DYR1A_HUMAN			2	86	+			4					O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	c.11G>A	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	G	32	5.122132	0.94429	.	.	ENSG00000157540	ENST00000338785;ENST00000455097;ENST00000426672;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956	T;T;T;T;T;T;T	0.64438	0.14;0.22;-0.08;0.23;0.14;-0.1;0.25	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.74092	0.3671	L	0.43152	1.355	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.997;0.999;0.999;0.997	D;D;D;D;D	0.87578	0.969;0.969;0.994;0.998;0.969	T	0.70270	-0.4918	9	.	.	.	.	19.8163	0.96569	0.0:0.0:1.0:0.0	.	4;4;4;4;4	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	E	4	ENSP00000342690:G4E;ENSP00000412269:G4E;ENSP00000340373:G4E;ENSP00000319032:G4E;ENSP00000416089:G4E;ENSP00000381932:G4E;ENSP00000381929:G4E	.	G	+	2	0	DYRK1A	37766856	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.476000	0.97823	2.861000	0.98227	0.650000	0.86243	GGA		PASS	0.393	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396	Missense_Mutation	8	40	8	40	---	---	---	---
PRODH	5625	broad.mit.edu	37	22	18912699	18912699	+	Missense_Mutation	SNP	C	C	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr22:18912699C>T	ENST00000357068.6	-	4	797	c.532G>A	c.(532-534)Gac>Aac	p.D178N	PRODH_ENST00000420436.1_Missense_Mutation_p.D70N|PRODH_ENST00000334029.2_Missense_Mutation_p.D70N	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	178					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)	FAD binding (GO:0071949)|proline dehydrogenase activity (GO:0004657)	p.D178N(1)		breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	TATTGCTTGTCCCGCTTATTC	0.617																																						uc010grl.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(532-534)GAC>AAC		proline dehydrogenase 1	L-Proline(DB00172)						99.0	99.0	99.0					22																	18912699		2203	4300	6503	SO:0001583	missense	5625				glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity	g.chr22:18912699C>T	AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	"""proline dehydrogenase (proline oxidase )"""			9385373, 10192398	Standard	NM_001195226		Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.532G>A	22.37:g.18912699C>T	ENSP00000349577:p.Asp178Asn					PRODH_uc002zoj.3_Missense_Mutation_p.D68N|PRODH_uc002zol.3_Missense_Mutation_p.D68N|PRODH_uc002zok.3_Missense_Mutation_p.D178N	p.D178N	NM_016335	NP_057419	O43272	PROD_HUMAN			4	546	-			178					A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	Missense_Mutation	SNP	ENST00000357068.6	37	c.532G>A	CCDS13754.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	14.99|14.99	2.699387|2.699387	0.48307|0.48307	.|.	.|.	ENSG00000100033|ENSG00000100033	ENST00000357068;ENST00000438924;ENST00000450579|ENST00000457083	T;T|.	0.77229|.	-1.08;-1.08|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.053759|.	0.64402|.	D|.	0.000001|.	T|T	0.52533|0.52533	0.1740|0.1740	N|N	0.14661|0.14661	0.345|0.345	0.38511|0.38511	D|D	0.948481|0.948481	B;B;B|.	0.32071|.	0.355;0.201;0.112|.	B;B;B|.	0.29353|.	0.101;0.023;0.047|.	T|T	0.61860|0.61860	-0.6976|-0.6976	10|6	0.18710|0.62326	T|D	0.47|0.03	-14.4968|-14.4968	16.2912|16.2912	0.82752|0.82752	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	94;178;70|.	O43272-1;O43272;E7EQL6|.	.;PROD_HUMAN;.|.	N|E	178;60;19|101	ENSP00000349577:D178N;ENSP00000396806:D19N|.	ENSP00000334726:D70N|ENSP00000413941:G101E	D|G	-|-	1|2	0|0	PRODH|PRODH	17292699|17292699	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.014000|0.014000	0.08584|0.08584	5.576000|5.576000	0.67437|0.67437	2.528000|2.528000	0.85240|0.85240	0.450000|0.450000	0.29827|0.29827	GAC|GGA		PASS	0.617	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316637.2	NM_016335		12	41	12	41	---	---	---	---
TPST2	8459	broad.mit.edu	37	22	26937357	26937357	+	Silent	SNP	G	G	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr22:26937357G>T	ENST00000338754.4	-	3	510	c.240C>A	c.(238-240)ggC>ggA	p.G80G	TPST2_ENST00000403880.1_Silent_p.G80G|TPST2_ENST00000398110.2_Silent_p.G80G	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	80					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)	p.G80G(1)		central_nervous_system(1)|large_intestine(1)|lung(5)	7						TCAACGTGGTGCCACTGCGAG	0.677																																						uc003acv.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(238-240)GGC>GGA		tyrosylprotein sulfotransferase 2							54.0	40.0	44.0					22																	26937357		2203	4290	6493	SO:0001819	synonymous_variant	8459				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr22:26937357G>T	AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12021	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog B (Drosophila)"""	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.240C>A	22.37:g.26937357G>T						TPST2_uc003acw.2_Silent_p.G80G|TPST2_uc003acx.2_Silent_p.G80G|TPST2_uc011akf.1_Silent_p.G80G	p.G80G	NM_003595	NP_003586	O60704	TPST2_HUMAN			2	408	-			80			Lumenal (Potential).		B3KQA7|Q6FI98|Q9H0V4	Silent	SNP	ENST00000338754.4	37	c.240C>A	CCDS13839.1																																																																																				PASS	0.677	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320820.3	NM_003595		6	27	6	27	---	---	---	---
RANGAP1	5905	broad.mit.edu	37	22	41670655	41670655	+	Silent	SNP	C	C	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr22:41670655C>T	ENST00000455915.2	-	2	1658	c.189G>A	c.(187-189)gtG>gtA	p.V63V	RANGAP1_ENST00000407260.4_Silent_p.V53V|RANGAP1_ENST00000405486.1_Silent_p.V63V|RANGAP1_ENST00000356244.3_Silent_p.V63V			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	63					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)	p.V63V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGCTGCTTCCACGCCCACTG	0.537																																						uc003azs.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(187-189)GTG>GTA		Ran GTPase activating protein 1							149.0	117.0	128.0					22																	41670655		2203	4300	6503	SO:0001819	synonymous_variant	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41670655C>T	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.189G>A	22.37:g.41670655C>T						RANGAP1_uc003azt.2_Silent_p.V63V|RANGAP1_uc003azu.2_Silent_p.V63V|RANGAP1_uc011aoz.1_Silent_p.V53V	p.V63V	NM_002883	NP_002874	P46060	RAGP1_HUMAN			2	1659	-			63			LRR 1.		Q96JJ2	Silent	SNP	ENST00000455915.2	37	c.189G>A	CCDS14012.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321279	0.23994	.	.	ENSG00000100401	ENST00000446258	.	.	.	5.46	-1.88	0.07713	.	.	.	.	.	T	0.42200	0.1192	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30851	-0.9964	4	.	.	.	-25.9317	3.2509	0.06814	0.1088:0.5376:0.1056:0.248	.	.	.	.	R	4	.	.	G	-	1	0	RANGAP1	40000601	1.000000	0.71417	0.992000	0.48379	0.982000	0.71751	0.945000	0.29056	-0.190000	0.10465	-0.868000	0.02995	GGA		PASS	0.537	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		16	46	16	46	---	---	---	---
BEND2	139105	broad.mit.edu	37	X	18198764	18198764	+	Missense_Mutation	SNP	A	A	G			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chrX:18198764A>G	ENST00000380033.4	-	9	1427	c.1295T>C	c.(1294-1296)tTa>tCa	p.L432S	BEND2_ENST00000380030.3_Missense_Mutation_p.L341S	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	432								p.L432S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ATTCAGAGGTAACagtgctga	0.393																																						uc004cyj.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(1294-1296)TTA>TCA		BEN domain containing 2							198.0	150.0	166.0					X																	18198764		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18198764A>G	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1295T>C	X.37:g.18198764A>G	ENSP00000369372:p.Leu432Ser					BEND2_uc010nfb.2_Missense_Mutation_p.L341S	p.L432S	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN			9	1449	-			432					E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.1295T>C	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	A	10.89	1.477028	0.26511	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.34275	1.37;1.52	3.7	2.55	0.30701	.	1.341820	0.05455	N	0.550170	T	0.48314	0.1493	L	0.46157	1.445	0.09310	N	1	P;D	0.76494	0.92;0.999	P;D	0.64042	0.527;0.921	T	0.31998	-0.9923	10	0.72032	D	0.01	.	4.301	0.10925	0.8424:0.0:0.1576:0.0	.	341;432	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	S	432;341	ENSP00000369372:L432S;ENSP00000369369:L341S	ENSP00000369369:L341S	L	-	2	0	BEND2	18108685	0.001000	0.12720	0.008000	0.14137	0.012000	0.07955	0.786000	0.26844	1.449000	0.47699	0.430000	0.28490	TTA		PASS	0.393	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		12	9	12	9	---	---	---	---
ATP7A	538	broad.mit.edu	37	X	77289124	77289124	+	Missense_Mutation	SNP	G	G	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chrX:77289124G>T	ENST00000341514.6	+	17	3471	c.3316G>T	c.(3316-3318)Ggt>Tgt	p.G1106C	ATP7A_ENST00000343533.5_Missense_Mutation_p.G1028C|ATP7A_ENST00000350425.4_Missense_Mutation_p.G109C	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1106					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)	p.G1106C(2)|p.G1106R(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TGAAACCTTGGGTACCTGCAT	0.403																																						uc004ecx.3																			4	Substitution - Missense(4)		lung(2)|breast(2)		0						c.(3316-3318)GGT>TGT		ATPase, Cu++ transporting, alpha polypeptide							98.0	88.0	92.0					X																	77289124		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77289124G>T	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.3316G>T	X.37:g.77289124G>T	ENSP00000345728:p.Gly1106Cys						p.G1106C	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			17	3476	+			1106			Cytoplasmic (Potential).		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.3316G>T	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853330	0.91355	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	D;D;D	0.85955	-2.05;-2.05;-2.05	5.75	5.75	0.90469	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.91143	0.7211	L	0.54965	1.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91737	0.5401	10	0.87932	D	0	-4.4926	18.9477	0.92628	0.0:0.0:1.0:0.0	.	1106	Q04656	ATP7A_HUMAN	C	1028;109;1106	ENSP00000343026:G1028C;ENSP00000343678:G109C;ENSP00000345728:G1106C	ENSP00000345728:G1106C	G	+	1	0	ATP7A	77175780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.752000	0.98900	2.423000	0.82170	0.597000	0.82753	GGT		PASS	0.403	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		17	13	17	13	---	---	---	---
IL1RAPL2	26280	broad.mit.edu	37	X	104984630	104984630	+	Missense_Mutation	SNP	C	C	T			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chrX:104984630C>T	ENST00000372582.1	+	8	1750	c.994C>T	c.(994-996)Cat>Tat	p.H332Y	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.H332Y	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	332	Ig-like C2-type 3.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)	p.H332Y(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTATACCTGCCATGTTGAAAA	0.383																																						uc004elz.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(994-996)CAT>TAT		interleukin 1 receptor accessory protein-like 2							75.0	67.0	69.0					X																	104984630		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104984630C>T	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.994C>T	X.37:g.104984630C>T	ENSP00000361663:p.His332Tyr						p.H332Y	NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN			8	1750	+			332			Ig-like C2-type 3.|Extracellular (Potential).		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.994C>T	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	C	8.358	0.832376	0.16820	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.02890	4.12;4.12	5.61	5.61	0.85477	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.02610	0.0079	N	0.24115	0.695	0.80722	D	1	B	0.09022	0.002	B	0.13407	0.009	T	0.32693	-0.9897	10	0.02654	T	1	.	17.5047	0.87741	0.0:1.0:0.0:0.0	.	332	Q9NP60	IRPL2_HUMAN	Y	332	ENSP00000361663:H332Y;ENSP00000344976:H332Y	ENSP00000344976:H332Y	H	+	1	0	IL1RAPL2	104871286	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.872000	0.63050	2.348000	0.79779	0.600000	0.82982	CAT		PASS	0.383	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		34	29	34	29	---	---	---	---
TRPC5	7224	broad.mit.edu	37	X	111020095	111020095	+	Missense_Mutation	SNP	C	C	G			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chrX:111020095C>G	ENST00000262839.2	-	11	3286	c.2368G>C	c.(2368-2370)Gct>Cct	p.A790P		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	790					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.A790P(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTGGCCCGAGCCCCACCACTG	0.483																																						uc004epl.1																			1	Substitution - Missense(1)		lung(1)	urinary_tract(1)	1						c.(2368-2370)GCT>CCT		transient receptor potential cation channel,							135.0	141.0	139.0					X																	111020095		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111020095C>G	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.2368G>C	X.37:g.111020095C>G	ENSP00000262839:p.Ala790Pro						p.A790P	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			11	3287	-			790			Cytoplasmic (Potential).		B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.2368G>C	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369338	0.42003	.	.	ENSG00000072315	ENST00000262839	T	0.69926	-0.44	5.71	5.71	0.89125	.	0.362542	0.27664	N	0.018379	T	0.48768	0.1518	N	0.08118	0	0.38734	D	0.953746	B	0.28208	0.203	B	0.27608	0.081	T	0.50750	-0.8791	10	0.29301	T	0.29	-16.1788	17.0452	0.86500	0.0:1.0:0.0:0.0	.	790	Q9UL62	TRPC5_HUMAN	P	790	ENSP00000262839:A790P	ENSP00000262839:A790P	A	-	1	0	TRPC5	110906751	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.729000	0.62008	2.404000	0.81709	0.600000	0.82982	GCT		PASS	0.483	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		8	175	8	175	---	---	---	---
DCAF12L1	139170	broad.mit.edu	37	X	125686548	125686548	+	Missense_Mutation	SNP	G	G	A			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chrX:125686548G>A	ENST00000371126.1	-	1	286	c.44C>T	c.(43-45)gCg>gTg	p.A15V		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	15								p.A15V(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CGCCTCGACCGCGGGCGCTTT	0.726																																						uc004eul.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(43-45)GCG>GTG		DDB1 and CUL4 associated factor 12-like 1							17.0	22.0	20.0					X																	125686548		2097	4091	6188	SO:0001583	missense	139170							g.chrX:125686548G>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.44C>T	X.37:g.125686548G>A	ENSP00000360167:p.Ala15Val						p.A15V	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	295	-			15					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.44C>T	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536362	0.27475	.	.	ENSG00000198889	ENST00000371126	T	0.18657	2.2	3.15	-0.0793	0.13711	.	.	.	.	.	T	0.16471	0.0396	L	0.51422	1.61	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.28933	-1.0028	9	0.54805	T	0.06	.	3.5219	0.07745	0.1517:0.0:0.347:0.5012	.	15	Q5VU92	DC121_HUMAN	V	15	ENSP00000360167:A15V	ENSP00000360167:A15V	A	-	2	0	DCAF12L1	125514229	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.299000	0.08254	-0.127000	0.11661	0.506000	0.49869	GCG		PASS	0.726	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		4	18	4	18	---	---	---	---
SASH3	54440	broad.mit.edu	37	X	128925032	128925032	+	Silent	SNP	G	G	A	rs201751439		TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chrX:128925032G>A	ENST00000356892.3	+	4	531	c.417G>A	c.(415-417)ccG>ccA	p.P139P		NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	139					homeostasis of number of cells within a tissue (GO:0048873)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tumor necrosis factor production (GO:0032760)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P139P(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						ATGAACTTCCGGTGCTCAGCC	0.612													G|||	2	0.000529801	0.0015	0.0	3775	,	,		12998	0.0		0.0	False		,,,				2504	0.0					uc011mun.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(415-417)CCG>CCA		SAM and SH3 domain containing 3							46.0	42.0	43.0					X																	128925032		2203	4300	6503	SO:0001819	synonymous_variant	54440							g.chrX:128925032G>A	BC051881	CCDS14614.1	Xq26	2013-01-10	2008-02-18	2008-02-18	ENSG00000122122	ENSG00000122122		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	15975	protein-coding gene	gene with protein product		300441	"""chromosome X open reading frame 9"""	CXorf9		11470164	Standard	NM_018990		Approved	SLY, 753P9, SH3D6C, HACS2	uc004euu.3	O75995	OTTHUMG00000022372	ENST00000356892.3:c.417G>A	X.37:g.128925032G>A						SASH3_uc004euu.2_Silent_p.P139P|SASH3_uc011muo.1_Silent_p.P56P	p.P139P	NM_018990	NP_061863	O75995	SASH3_HUMAN			4	599	+			139					A6NCH1|A8K7K8|Q5JZ38	Silent	SNP	ENST00000356892.3	37	c.417G>A	CCDS14614.1																																																																																				PASS	0.612	SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058208.1	NM_018990		7	20	7	20	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240255569	240255571	+	In_Frame_Del	DEL	GGC	GGC	-	rs71929261|rs140531536	byFrequency	TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr1:240255569_240255571delGGC	ENST00000319653.9	+	1	390_392	c.160_162delGGC	c.(160-162)ggcdel	p.G59del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	59					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G197delG(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGGGGGAgggggcggcggcggcg	0.665														3539	0.706669	0.7821	0.7507	5008	,	,		10143	0.4514		0.7893	False		,,,				2504	0.7515					uc010pyd.1																			1	Deletion - In frame(1)		prostate(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(160-162)GGCdel		formin 2																																				SO:0001651	inframe_deletion	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240255569_240255571delGGC	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.160_162delGGC	1.37:g.240255578_240255580delGGC	ENSP00000318884:p.Gly59del					FMN2_uc010pye.1_In_Frame_Del_p.G59del	p.G59del	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	385_387	+	Ovarian(103;0.127)	all_cancers(173;0.013)	59					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	In_Frame_Del	DEL	ENST00000319653.9	37	c.160_162delGGC	CCDS31069.2																																																																																					0.665	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		8	7	8	7	---	---	---	---
ULK1	8408	broad.mit.edu	37	12	132396531	132396535	+	Frame_Shift_Del	DEL	GGCTG	GGCTG	-	rs56390341	byFrequency	TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr12:132396531_132396535delGGCTG	ENST00000321867.4	+	13	1344_1348	c.993_997delGGCTG	c.(991-999)ccggctgacfs	p.AD332fs		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	332	Interaction with GABARAP and GABARAPL2.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TGGCCTCCCCGGCTGACACCGCTGG	0.639																																						uc001uje.2																			0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(991-999)CCGGCTGACfs		Unc-51-like kinase 1																																				SO:0001589	frameshift_variant	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132396531_132396535delGGCTG	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.993_997delGGCTG	12.37:g.132396531_132396535delGGCTG	ENSP00000324560:p.Ala332fs						p.P331fs	NM_003565	NP_003556	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	13	1261_1265	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		331_333			Interaction with GABARAP and GABARAPL2.		Q9UQ28	Frame_Shift_Del	DEL	ENST00000321867.4	37	c.993_997delGGCTG	CCDS9274.1																																																																																					0.639	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			14	10	14	10	---	---	---	---
GPHN	10243	broad.mit.edu	37	14	67567581	67567581	+	Frame_Shift_Del	DEL	G	G	-			TCGA-56-5898-01A-11D-1632-08	TCGA-56-5898-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	aaf47efe-4a0a-40d1-b70f-9c9168cbdae0	00644bfb-0824-40c2-aeeb-ad1103559466	g.chr14:67567581delG	ENST00000315266.5	+	12	2268	c.1147delG	c.(1147-1149)ggcfs	p.G383fs	GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Frame_Shift_Del_p.G352fs|GPHN_ENST00000478722.1_Frame_Shift_Del_p.G416fs|GPHN_ENST00000543237.1_Frame_Shift_Del_p.G429fs	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	383	MPT adenylyltransferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AGCTGCTGATGGCCCAGGAGA	0.443			T	MLL	AL																																	uc001xiy.2				Dom	yes		14	14q24	10243	T	gephyrin (GPH)			L	MLL		AL		0				ovary(2)	2						c.(1147-1149)GGCfs		gephyrin isoform 2							125.0	109.0	115.0					14																	67567581		2203	4300	6503	SO:0001589	frameshift_variant	10243				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	g.chr14:67567581delG	AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.1147delG	14.37:g.67567581delG	ENSP00000312771:p.Gly383fs					GPHN_uc001xix.2_Frame_Shift_Del_p.G416fs|GPHN_uc010tss.1_Frame_Shift_Del_p.G429fs|GPHN_uc010tst.1_Frame_Shift_Del_p.G352fs|GPHN_uc010tsu.1_Frame_Shift_Del_p.G306fs	p.G383fs	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)	12	2268	+		all_cancers(7;0.0476)|all_hematologic(31;0.0116)	383			MPT adenylyltransferase.		Q9H4E9|Q9P2G2	Frame_Shift_Del	DEL	ENST00000315266.5	37	c.1147delG	CCDS32103.1																																																																																					0.443	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		37	16	37	16	---	---	---	---
