#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
PRDM2	7799	broad.mit.edu	37	1	14109273	14109273	+	Missense_Mutation	SNP	G	G	C			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr1:14109273G>C	ENST00000235372.7	+	8	5839	c.4983G>C	c.(4981-4983)ttG>ttC	p.L1661F	PRDM2_ENST00000413440.1_Missense_Mutation_p.L1460F|PRDM2_ENST00000343137.4_Missense_Mutation_p.L1460F|PRDM2_ENST00000311066.5_Missense_Mutation_p.L1661F|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1661					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.L1661F(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CTGCTGACTTGAGTGAGAACA	0.562																																						uc001avi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(4981-4983)TTG>TTC		retinoblastoma protein-binding zinc finger							26.0	32.0	30.0					1																	14109273		2187	4287	6474	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14109273G>C	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.4983G>C	1.37:g.14109273G>C	ENSP00000235372:p.Leu1661Phe					PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.L1661F|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.L1460F|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	p.L1661F	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	5839	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	1661					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.4983G>C	CCDS150.1	.	.	.	.	.	.	.	.	.	.	G	6.856	0.527165	0.13066	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01584	4.86;4.75;4.76;4.76	6.07	-4.7	0.03288	.	1.080880	0.07025	N	0.827481	T	0.01558	0.0050	L	0.36672	1.1	0.09310	N	1	B;B;P	0.36315	0.168;0.412;0.547	B;B;B	0.31812	0.064;0.064;0.136	T	0.46735	-0.9170	10	0.39692	T	0.17	.	7.4747	0.27369	0.5151:0.3462:0.1387:0.0	.	1519;1661;1661	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	F	1661;1661;1661;1460;1460	ENSP00000235372:L1661F;ENSP00000312352:L1661F;ENSP00000411103:L1460F;ENSP00000341621:L1460F	ENSP00000235372:L1661F	L	+	3	2	PRDM2	13981860	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-2.057000	0.01395	-0.357000	0.08175	-0.136000	0.14681	TTG		PASS	0.562	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		4	24	4	24	---	---	---	---
DDI2	84301	broad.mit.edu	37	1	15956921	15956921	+	Missense_Mutation	SNP	G	G	C			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr1:15956921G>C	ENST00000480945.1	+	3	541	c.370G>C	c.(370-372)Gaa>Caa	p.E124Q		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	124							aspartic-type endopeptidase activity (GO:0004190)	p.E124Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		ATCTCCTGGAGAAATAACTTC	0.542																																						uc001awx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(370-372)GAA>CAA		DNA-damage inducible protein 2							95.0	88.0	90.0					1																	15956921		2203	4300	6503	SO:0001583	missense	84301				proteolysis		aspartic-type endopeptidase activity	g.chr1:15956921G>C		CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"""				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.370G>C	1.37:g.15956921G>C	ENSP00000417748:p.Glu124Gln					DDI2_uc001aww.2_Missense_Mutation_p.E124Q|DDI2_uc009voj.1_5'UTR	p.E124Q	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	3	466	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	124					A8KAE1|Q7RTZ0|Q9BRT1	Missense_Mutation	SNP	ENST00000480945.1	37	c.370G>C	CCDS30607.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792466	0.90453	.	.	ENSG00000197312	ENST00000480945	T	0.23754	1.89	5.67	5.67	0.87782	.	0.388659	0.23079	U	0.052177	T	0.20981	0.0505	L	0.27053	0.805	0.34846	D	0.741211	B	0.06786	0.001	B	0.08055	0.003	T	0.14896	-1.0456	10	0.16420	T	0.52	-30.1101	19.3867	0.94560	0.0:0.0:1.0:0.0	.	124	Q5TDH0	DDI2_HUMAN	Q	124	ENSP00000417748:E124Q	ENSP00000449475:E9Q	E	+	1	0	DDI2	15829508	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.538000	0.67193	2.684000	0.91462	0.650000	0.86243	GAA		PASS	0.542	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006826.1	NM_032341		10	55	10	55	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34190220	34190220	+	Silent	SNP	C	C	T	rs570847580		TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr1:34190220C>T	ENST00000373381.4	-	18	2957	c.2781G>A	c.(2779-2781)gcG>gcA	p.A927A		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	887	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A887A(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)				AGGTCACCAGCGCGCCCACGT	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		18147	0.001		0.0	False		,,,				2504	0.0					uc001bxn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(2659-2661)GCG>GCA		CUB and Sushi multiple domains 2							82.0	77.0	79.0					1																	34190220		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34190220C>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	ENST00000373381.4:c.2781G>A	1.37:g.34190220C>T						CSMD2_uc001bxm.1_Silent_p.A927A	p.A887A	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			18	2690	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	887			Sushi 5.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.2661G>A																																																																																					PASS	0.567	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		6	40	6	40	---	---	---	---
SYT6	148281	broad.mit.edu	37	1	114680442	114680442	+	Missense_Mutation	SNP	C	C	T	rs139165674	byFrequency	TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr1:114680442C>T	ENST00000610222.1	-	3	892	c.746G>A	c.(745-747)cGt>cAt	p.R249H	SYT6_ENST00000369547.1_Missense_Mutation_p.R164H|SYT6_ENST00000609117.1_Missense_Mutation_p.R164H|SYT6_ENST00000607941.1_Missense_Mutation_p.R164H|SYT6_ENST00000393296.1_Missense_Mutation_p.R249H			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	249	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)	p.R164H(2)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTCAGGATACGCACAATCAG	0.542													C|||	3	0.000599042	0.0008	0.0014	5008	,	,		23094	0.0		0.001	False		,,,				2504	0.0					uc001eev.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(490-492)CGT>CAT		synaptotagmin VI		C	HIS/ARG	4,4402	6.2+/-15.9	0,4,2199	162.0	140.0	148.0		491	4.7	1.0	1	dbSNP_134	148	6,8594	5.0+/-18.6	0,6,4294	yes	missense	SYT6	NM_205848.2	29	0,10,6493	TT,TC,CC		0.0698,0.0908,0.0769	probably-damaging	164/426	114680442	10,12996	2203	4300	6503	SO:0001583	missense	148281				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	g.chr1:114680442C>T		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.746G>A	1.37:g.114680442C>T	ENSP00000476396:p.Arg249His						p.R164H	NM_205848	NP_995320	Q5T7P8	SYT6_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	741	-	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)	249			Cytoplasmic (Potential).|C2 1.		B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37	c.491G>A		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.69	2.611532	0.46631	9.08E-4	6.98E-4	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.61	4.7	0.59300	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.222251	0.44285	D	0.000462	T	0.37293	0.0998	N	0.17838	0.53	0.44030	D	0.996757	B	0.32829	0.386	B	0.31869	0.137	T	0.40887	-0.9539	10	0.41790	T	0.15	.	14.7542	0.69552	0.0:0.9308:0.0:0.0692	.	249	Q5T7P8	SYT6_HUMAN	H	164;249;164;249	ENSP00000358560:R164H;ENSP00000376974:R249H;ENSP00000358559:R164H;ENSP00000358558:R249H	ENSP00000358558:R249H	R	-	2	0	SYT6	114481965	0.903000	0.30736	1.000000	0.80357	0.826000	0.46750	1.884000	0.39668	1.397000	0.46682	-0.119000	0.15052	CGT		PASS	0.542	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		5	53	5	53	---	---	---	---
OR10X1	128367	broad.mit.edu	37	1	158549354	158549354	+	Silent	SNP	A	A	T			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr1:158549354A>T	ENST00000368150.1	-	1	335	c.336T>A	c.(334-336)ggT>ggA	p.G112G		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G112G(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GTAAGCTACAACCTGTGACTG	0.488																																						uc010pin.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(334-336)GGT>GGA		olfactory receptor, family 10, subfamily X,							99.0	100.0	100.0					1																	158549354		2203	4300	6503	SO:0001819	synonymous_variant	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158549354A>T	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.336T>A	1.37:g.158549354A>T							p.G112G	NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN			1	336	-	all_hematologic(112;0.0378)		112			Extracellular (Potential).		Q6IFR8	Silent	SNP	ENST00000368150.1	37	c.336T>A	CCDS30900.1																																																																																				PASS	0.488	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		9	36	9	36	---	---	---	---
F5	2153	broad.mit.edu	37	1	169511232	169511232	+	Missense_Mutation	SNP	C	C	G			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr1:169511232C>G	ENST00000367797.3	-	13	3297	c.3096G>C	c.(3094-3096)aaG>aaC	p.K1032N	F5_ENST00000367796.3_Missense_Mutation_p.K1037N	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1032	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.K1032N(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TCTCTTTTTTCTTTTTTCGTG	0.393																																						uc001ggg.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(3094-3096)AAG>AAC		coagulation factor V precursor	Drotrecogin alfa(DB00055)						187.0	195.0	192.0					1																	169511232		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169511232C>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3096G>C	1.37:g.169511232C>G	ENSP00000356771:p.Lys1032Asn						p.K1032N	NM_000130	NP_000121	P12259	FA5_HUMAN			13	3241	-	all_hematologic(923;0.208)		1032			B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3096G>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481484	0.63849	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.23348	1.91;1.91	5.81	5.81	0.92471	.	0.267190	0.34906	N	0.003587	T	0.33440	0.0863	M	0.70275	2.135	0.25374	N	0.988676	D	0.63880	0.993	P	0.56343	0.796	T	0.03933	-1.0991	9	0.30854	T	0.27	-14.0139	15.6368	0.76961	0.0:1.0:0.0:0.0	.	1032	P12259	FA5_HUMAN	N	1032;1037	ENSP00000356771:K1032N;ENSP00000356770:K1037N	ENSP00000356770:K1037N	K	-	3	2	F5	167777856	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	1.801000	0.38843	2.763000	0.94921	0.567000	0.79289	AAG		PASS	0.393	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		8	217	8	217	---	---	---	---
RASAL2	9462	broad.mit.edu	37	1	178426894	178426894	+	Missense_Mutation	SNP	C	C	G			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr1:178426894C>G	ENST00000462775.1	+	12	2169	c.2044C>G	c.(2044-2046)Cag>Gag	p.Q682E	RASAL2_ENST00000448150.3_Missense_Mutation_p.Q812E|RASAL2_ENST00000367649.3_Missense_Mutation_p.Q823E	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	682					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)	p.Q823E(1)|p.Q682E(1)|p.Q812E(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						ATTGCTGGTTCAGCAAGCCTC	0.458																																						uc001glr.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)|breast(2)|large_intestine(1)	5						c.(2044-2046)CAG>GAG		RAS protein activator like 2 isoform 1							94.0	90.0	91.0					1																	178426894		2203	4300	6503	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178426894C>G	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.2044C>G	1.37:g.178426894C>G	ENSP00000420558:p.Gln682Glu					RASAL2_uc001glq.2_Missense_Mutation_p.Q823E|RASAL2_uc009wxc.2_Missense_Mutation_p.Q196E	p.Q682E	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN			12	2169	+			682					F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.2044C>G	CCDS1322.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.08|15.08	2.726166|2.726166	0.48833|0.48833	.|.	.|.	ENSG00000075391|ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775|ENST00000433130	T;T;T|.	0.10477|.	2.87;2.87;2.87|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.455261|.	0.24386|.	N|.	0.038965|.	T|.	0.70945|.	0.3282|.	L|L	0.49455|0.49455	1.56|1.56	0.80722|0.80722	D|D	1|1	P;D;P|.	0.64830|.	0.942;0.994;0.859|.	P;D;P|.	0.68621|.	0.748;0.959;0.554|.	T|.	0.65977|.	-0.6037|.	10|.	0.36615|.	T|.	0.2|.	.|.	19.8411|19.8411	0.96685|0.96685	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	812;682;823|.	B1AKC7;Q9UJF2;F8W755|.	.;NGAP_HUMAN;.|.	E|X	812;823;682|232	ENSP00000407768:Q812E;ENSP00000356621:Q823E;ENSP00000420558:Q682E|.	ENSP00000356621:Q823E|.	Q|S	+|+	1|2	0|0	RASAL2|RASAL2	176693517|176693517	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.996000|0.996000	0.88848|0.88848	5.151000|5.151000	0.64875|0.64875	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	CAG|TCA		PASS	0.458	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		8	64	8	64	---	---	---	---
FCAMR	83953	broad.mit.edu	37	1	207139122	207139122	+	Missense_Mutation	SNP	C	C	A	rs551593682		TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr1:207139122C>A	ENST00000324852.4	-	4	725	c.251G>T	c.(250-252)cGg>cTg	p.R84L	FCAMR_ENST00000400962.3_Missense_Mutation_p.R84L|FCAMR_ENST00000450945.2_Missense_Mutation_p.R84L	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	39	Ig-like V-type.|Mediates immunoglobulin Fc fragment- binding. {ECO:0000250}.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R84L(2)|p.R60L(1)		endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						TCCCATGGCCCGGAGATGGGT	0.592																																					Ovarian(199;1883 2142 16966 44409 45154)	uc001hfa.3																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(250-252)CGG>CTG		Fc receptor, IgA, IgM, high affinity isoform 2							42.0	45.0	44.0					1																	207139122		1568	3582	5150	SO:0001583	missense	83953					integral to membrane|plasma membrane	receptor activity	g.chr1:207139122C>A	AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.251G>T	1.37:g.207139122C>A	ENSP00000316491:p.Arg84Leu					FCAMR_uc001hfb.2_Missense_Mutation_p.R84L|FCAMR_uc009xca.1_Missense_Mutation_p.R84L|FCAMR_uc001hfc.2_Missense_Mutation_p.R59L	p.R84L	NM_001122980	NP_001116452	Q8WWV6	FCAMR_HUMAN			4	751	-			39			Extracellular (Potential).		Q32M82|Q8WWV5|Q96SA2	Missense_Mutation	SNP	ENST00000324852.4	37	c.251G>T	CCDS53468.1	.	.	.	.	.	.	.	.	.	.	C	1.775	-0.483505	0.04383	.	.	ENSG00000162897	ENST00000400962;ENST00000324852;ENST00000450945;ENST00000367087	T;T;T	0.08282	3.11;3.4;3.11	2.85	0.922	0.19408	.	1.684950	0.04036	N	0.302365	T	0.05731	0.0150	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.39961	-0.9588	10	0.12103	T	0.63	4.1529	4.6352	0.12521	0.0:0.6764:0.0:0.3236	.	39;59;39;39	Q8WWV6-4;D2KTA8;Q8WWV6-2;Q8WWV6	.;.;.;FCAMR_HUMAN	L	84;84;84;60	ENSP00000383746:R84L;ENSP00000316491:R84L;ENSP00000392707:R84L	ENSP00000316491:R84L	R	-	2	0	FCAMR	205205745	0.000000	0.05858	0.004000	0.12327	0.021000	0.10359	-0.588000	0.05774	0.251000	0.21505	-0.224000	0.12420	CGG		PASS	0.592	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088969.2	NM_032029		6	19	6	19	---	---	---	---
ADCK3	56997	broad.mit.edu	37	1	227152766	227152766	+	Missense_Mutation	SNP	C	C	G			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr1:227152766C>G	ENST00000366779.1	+	8	3014	c.243C>G	c.(241-243)ttC>ttG	p.F81L	ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366777.3_Missense_Mutation_p.F81L|ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000433743.2_5'Flank|ADCK3_ENST00000366778.1_Missense_Mutation_p.F29L			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	81					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.F81L(1)		endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						AGTTCCACTTCTCAGTCCCGC	0.597																																						uc001hqm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(241-243)TTC>TTG		chaperone, ABC1 activity of bc1 complex like							49.0	56.0	54.0					1																	227152766		2203	4300	6503	SO:0001583	missense	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227152766C>G	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.243C>G	1.37:g.227152766C>G	ENSP00000355741:p.Phe81Leu					CABC1_uc010pvp.1_Missense_Mutation_p.F44L|CABC1_uc001hqn.1_Missense_Mutation_p.F81L|CABC1_uc009xeq.1_Missense_Mutation_p.F29L|CABC1_uc010pvq.1_Intron|CABC1_uc010pvr.1_5'Flank	p.F81L	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN			8	3662	+		Prostate(94;0.0771)	81					Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Missense_Mutation	SNP	ENST00000366779.1	37	c.243C>G	CCDS1557.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.28|12.28	1.889452|1.889452	0.33348|0.33348	.|.	.|.	ENSG00000163050|ENSG00000163050	ENST00000405743|ENST00000366779;ENST00000366778;ENST00000366777	.|T;T;T	.|0.73469	.|-0.75;-0.73;-0.75	5.7|5.7	1.68|1.68	0.24146|0.24146	.|.	.|0.532671	.|0.22483	.|N	.|0.059466	.|T	.|0.65439	.|0.2691	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	.|B	.|0.24483	.|0.104	.|B	.|0.25140	.|0.058	.|T	.|0.51631	.|-0.8681	.|10	.|0.12103	.|T	.|0.63	.|2.326	7.1808|7.1808	0.25772|0.25772	0.0:0.6642:0.1228:0.213|0.0:0.6642:0.1228:0.213	.|.	.|81	.|Q8NI60	.|ADCK3_HUMAN	.|L	-1|81;29;81	.|ENSP00000355741:F81L;ENSP00000355740:F29L;ENSP00000355739:F81L	.|ENSP00000355739:F81L	.|F	+|+	.|3	.|2	ADCK3|ADCK3	225219389|225219389	0.973000|0.973000	0.33851|0.33851	0.075000|0.075000	0.20258|0.20258	0.053000|0.053000	0.15095|0.15095	0.425000|0.425000	0.21346|0.21346	0.343000|0.343000	0.23821|0.23821	-0.175000|-0.175000	0.13238|0.13238	.|TTC		PASS	0.597	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		8	38	8	38	---	---	---	---
AGBL5	60509	broad.mit.edu	37	2	27276797	27276797	+	Missense_Mutation	SNP	C	C	T			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr2:27276797C>T	ENST00000360131.4	+	4	580	c.421C>T	c.(421-423)Cat>Tat	p.H141Y	RP11-503P10.1_ENST00000607407.1_RNA|AGBL5_ENST00000323064.8_Missense_Mutation_p.H141Y	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	141					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.H141Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCCTTTGTTCATCGTTTCGT	0.552																																						uc002rie.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(421-423)CAT>TAT		ATP/GTP binding protein-like 5 isoform 1							194.0	169.0	177.0					2																	27276797		2203	4300	6503	SO:0001583	missense	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27276797C>T	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.421C>T	2.37:g.27276797C>T	ENSP00000353249:p.His141Tyr					AGBL5_uc002ric.2_Missense_Mutation_p.H141Y|AGBL5_uc002rid.2_Missense_Mutation_p.H141Y|AGBL5_uc002rif.2_RNA	p.H141Y	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN			4	638	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		141					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	c.421C>T	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023520	0.54683	.	.	ENSG00000084693	ENST00000453161;ENST00000323064;ENST00000360131	T;T	0.13420	2.63;2.59	5.51	5.51	0.81932	.	0.084520	0.85682	D	0.000000	T	0.23249	0.0562	L	0.35854	1.095	0.58432	D	0.999997	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.65773	0.925;0.938;0.938	T	0.01215	-1.1416	10	0.02654	T	1	-6.9724	18.1957	0.89820	0.0:1.0:0.0:0.0	.	141;141;141	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	Y	141	ENSP00000323681:H141Y;ENSP00000353249:H141Y	ENSP00000323681:H141Y	H	+	1	0	AGBL5	27130301	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.254000	0.78329	2.590000	0.87494	0.561000	0.74099	CAT		PASS	0.552	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		4	95	4	95	---	---	---	---
MTA3	57504	broad.mit.edu	37	2	42935192	42935192	+	Missense_Mutation	SNP	G	G	C			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr2:42935192G>C	ENST00000405094.1	+	13	1300	c.1300G>C	c.(1300-1302)Gag>Cag	p.E434Q	MTA3_ENST00000406652.1_Missense_Mutation_p.E377Q|MTA3_ENST00000472767.1_3'UTR|MTA3_ENST00000407270.3_Missense_Mutation_p.E434Q|MTA3_ENST00000406911.1_Missense_Mutation_p.E433Q|MTA3_ENST00000405592.1_Missense_Mutation_p.E377Q			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	434						intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E434Q(1)		endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						CCCAACTACAGAGGTACAGTA	0.343																																						uc002rso.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1129-1131)GAG>CAG		metastasis associated 1 family, member 3							82.0	82.0	82.0					2																	42935192		1830	4088	5918	SO:0001583	missense	57504					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:42935192G>C	AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"""GATA zinc finger domain containing"""	23784	protein-coding gene	gene with protein product		609050	"""metastasis associated gene family, member 3"""			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.1300G>C	2.37:g.42935192G>C	ENSP00000385823:p.Glu434Gln					MTA3_uc002rsp.1_Missense_Mutation_p.E377Q|MTA3_uc002rsq.2_Missense_Mutation_p.E434Q|MTA3_uc002rsr.2_Missense_Mutation_p.E433Q	p.E377Q	NM_020744	NP_065795	Q9BTC8	MTA3_HUMAN			14	1799	+			434					Q9NSP2|Q9ULF4	Missense_Mutation	SNP	ENST00000405094.1	37	c.1129G>C		.	.	.	.	.	.	.	.	.	.	G	13.13	2.144072	0.37825	.	.	ENSG00000057935	ENST00000405592;ENST00000406652;ENST00000407270;ENST00000282366;ENST00000406911;ENST00000405094	T;T;T;T;T	0.46819	0.86;0.86;0.89;0.89;0.88	5.99	5.99	0.97316	.	0.378289	0.33327	N	0.005030	T	0.41419	0.1158	L	0.43152	1.355	0.36030	D	0.839372	B;B;P	0.36789	0.295;0.397;0.57	B;B;B	0.33960	0.084;0.173;0.119	T	0.43393	-0.9394	10	0.19590	T	0.45	0.013	18.6582	0.91462	0.0:0.0:1.0:0.0	.	433;434;377	E7EQY4;Q9BTC8-2;D6W5A2	.;.;.	Q	377;377;434;434;433;434	ENSP00000383973:E377Q;ENSP00000384249:E377Q;ENSP00000385045:E434Q;ENSP00000385241:E433Q;ENSP00000385823:E434Q	ENSP00000282366:E434Q	E	+	1	0	MTA3	42788696	1.000000	0.71417	0.999000	0.59377	0.912000	0.54170	4.292000	0.59031	2.840000	0.97914	0.655000	0.94253	GAG		PASS	0.343	MTA3-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318159.1	NM_020744		4	39	4	39	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152529046	152529046	+	Missense_Mutation	SNP	G	G	T			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr2:152529046G>T	ENST00000172853.10	-	37	4283	c.4136C>A	c.(4135-4137)aCc>aAc	p.T1379N	NEB_ENST00000427231.2_Missense_Mutation_p.T1379N|NEB_ENST00000603639.1_Missense_Mutation_p.T1379N|NEB_ENST00000397345.3_Missense_Mutation_p.T1379N|NEB_ENST00000604864.1_Missense_Mutation_p.T1379N|NEB_ENST00000409198.1_Missense_Mutation_p.T1379N			P20929	NEBU_HUMAN	nebulin	1379					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.T1379N(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATGGTAGCTGGTTTTGGTGTT	0.473																																						uc010fnx.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(4135-4137)ACC>AAC		nebulin isoform 3							154.0	150.0	151.0					2																	152529046		2012	4174	6186	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152529046G>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.4136C>A	2.37:g.152529046G>T	ENSP00000172853:p.Thr1379Asn						p.T1379N	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	37	4327	-			1379					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.4136C>A		.	.	.	.	.	.	.	.	.	.	G	23.7	4.450909	0.84209	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	5.92	5.92	0.95590	.	0.126503	0.56097	D	0.000039	T	0.63908	0.2551	M	0.78637	2.42	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.61893	-0.6969	10	0.48119	T	0.1	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	1379	P20929	NEBU_HUMAN	N	1379	ENSP00000386259:T1379N;ENSP00000380505:T1379N;ENSP00000416578:T1379N;ENSP00000172853:T1379N	ENSP00000172853:T1379N	T	-	2	0	NEB	152237292	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.612000	0.82975	2.822000	0.97130	0.650000	0.86243	ACC		PASS	0.473	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		4	77	4	77	---	---	---	---
PKP4	8502	broad.mit.edu	37	2	159477760	159477760	+	Missense_Mutation	SNP	A	A	G			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr2:159477760A>G	ENST00000389759.3	+	6	542	c.430A>G	c.(430-432)Aga>Gga	p.R144G	PKP4_ENST00000389757.3_Missense_Mutation_p.R144G	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	144					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.R144G(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GGGTAACTCAAGAAGTTCAAC	0.393										HNSCC(62;0.18)																												uc002tzv.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)	7						c.(430-432)AGA>GGA		plakophilin 4 isoform a							94.0	90.0	92.0					2																	159477760		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159477760A>G	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.430A>G	2.37:g.159477760A>G	ENSP00000374409:p.Arg144Gly	HNSCC(62;0.18)				PKP4_uc002tzt.1_5'UTR|PKP4_uc002tzu.2_Missense_Mutation_p.R144G|PKP4_uc002tzw.2_Missense_Mutation_p.R144G|PKP4_uc002tzx.2_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Missense_Mutation_p.R142G|PKP4_uc002uaa.2_5'UTR	p.R144G	NM_003628	NP_003619	Q99569	PKP4_HUMAN			6	690	+			144					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.430A>G	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	A	15.13	2.740687	0.49045	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	T;T	0.74526	-0.85;-0.85	5.91	5.91	0.95273	.	0.389348	0.28062	N	0.016745	T	0.63462	0.2513	L	0.40543	1.245	0.51482	D	0.999926	B;P	0.44627	0.005;0.839	B;B	0.30316	0.009;0.114	T	0.70517	-0.4850	10	0.72032	D	0.01	-13.0474	16.3407	0.83081	1.0:0.0:0.0:0.0	.	144;144	Q99569-2;Q99569	.;PKP4_HUMAN	G	144	ENSP00000374407:R144G;ENSP00000374409:R144G	ENSP00000374407:R144G	R	+	1	2	PKP4	159186006	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.248000	0.51430	2.260000	0.74910	0.533000	0.62120	AGA		PASS	0.393	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			6	62	6	62	---	---	---	---
RAPGEF4	11069	broad.mit.edu	37	2	173883491	173883491	+	Missense_Mutation	SNP	G	G	A	rs61741755		TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr2:173883491G>A	ENST00000397081.3	+	22	2259	c.2116G>A	c.(2116-2118)Ggg>Agg	p.G706R	RAPGEF4_ENST00000539331.1_Missense_Mutation_p.G553R|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.G535R|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.G553R|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.G705R|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.G706R|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.G486R|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.G562R	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	706					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.G706R(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GCTGGGCTCCGGGGAGGGCCT	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		18131	0.0		0.001	False		,,,				2504	0.0					uc002uhv.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	6						c.(2116-2118)GGG>AGG		Rap guanine nucleotide exchange factor (GEF) 4		G	ARG/GLY,ARG/GLY	1,4327		0,1,2163	85.0	95.0	92.0		1684,2116	5.7	0.5	2	dbSNP_129	92	14,8548		0,14,4267	yes	missense,missense	RAPGEF4	NM_001100397.1,NM_007023.3	125,125	0,15,6430	AA,AG,GG		0.1635,0.0231,0.1164	probably-damaging,probably-damaging	562/868,706/1012	173883491	15,12875	2164	4281	6445	SO:0001583	missense	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173883491G>A	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2116G>A	2.37:g.173883491G>A	ENSP00000380271:p.Gly706Arg					RAPGEF4_uc002uhw.3_Missense_Mutation_p.G562R	p.G706R	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		22	2303	+			706					B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	c.2116G>A	CCDS42775.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.26	3.585483	0.66105	2.31E-4	0.001635	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187	T;T;T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38	5.73	5.73	0.89815	Ras-association (1);Ras guanine nucleotide exchange factor, domain (1);	0.068282	0.56097	D	0.000023	T	0.23572	0.0570	L	0.48642	1.525	0.52099	D	0.999949	P;P	0.49783	0.928;0.819	B;P	0.44921	0.412;0.464	T	0.00382	-1.1775	10	0.49607	T	0.09	.	19.9036	0.96999	0.0:0.0:1.0:0.0	rs61741755	562;706	Q8WZA2-3;Q8WZA2	.;RPGF4_HUMAN	R	705;706;706;562;535;553;553;486	ENSP00000264111:G705R;ENSP00000380271:G706R;ENSP00000387104:G706R;ENSP00000380276:G562R;ENSP00000440135:G535R;ENSP00000440250:G553R;ENSP00000437384:G553R;ENSP00000438011:G486R	ENSP00000264111:G705R	G	+	1	0	RAPGEF4	173591737	1.000000	0.71417	0.495000	0.27527	0.229000	0.25112	5.265000	0.65519	2.706000	0.92434	0.655000	0.94253	GGG		PASS	0.502	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		8	56	8	56	---	---	---	---
NFE2L2	4780	broad.mit.edu	37	2	178098810	178098810	+	Missense_Mutation	SNP	C	C	G			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr2:178098810C>G	ENST00000397062.3	-	2	789	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63Q	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E79K(10)|p.E79Q(10)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		20	Substitution - Missense(20)		lung(13)|oesophagus(4)|upper_aerodigestive_tract(1)|urinary_tract(1)|cervix(1)	central_nervous_system(1)	1						c.(235-237)GAG>CAG		nuclear factor erythroid 2-like 2 isoform 1							147.0	146.0	146.0					2																	178098810		1899	4107	6006	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098810C>G		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.235G>C	2.37:g.178098810C>G	ENSP00000380252:p.Glu79Gln	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.E63Q|NFE2L2_uc010zfa.1_Missense_Mutation_p.E63Q|NFE2L2_uc002uli.3_Missense_Mutation_p.E63Q|NFE2L2_uc010fra.2_Missense_Mutation_p.E63Q|NFE2L2_uc010frb.2_Missense_Mutation_p.E63Q	p.E79Q	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	790	-			79					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.235G>C	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647218	0.67358	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.996;0.994;0.998;0.996	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	63;63;63;79	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	Q	63;79;63;63;63;63;63	ENSP00000380253:E63Q;ENSP00000380252:E79Q;ENSP00000411575:E63Q;ENSP00000391590:E63Q;ENSP00000400073:E63Q;ENSP00000412191:E63Q;ENSP00000410015:E63Q	ENSP00000380252:E79Q	E	-	1	0	NFE2L2	177807056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.737000	0.93849	0.563000	0.77884	GAG		PASS	0.443	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		11	52	11	52	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179515558	179515558	+	Missense_Mutation	SNP	G	G	T			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr2:179515558G>T	ENST00000591111.1	-	164	35332	c.35108C>A	c.(35107-35109)cCa>cAa	p.P11703Q	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P13210Q|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10776Q|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	11703	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P10776Q(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)			TGGCACTTCTGGCACTTTAAA	0.413																																						uc010zfg.1																			1	Substitution - Missense(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.(32326-32328)CCA>CAA		titin isoform N2-A							46.0	47.0	47.0					2																	179515558		1849	4075	5924	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179515558G>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.35108C>A	2.37:g.179515558G>T	ENSP00000465570:p.Pro11703Gln					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_RNA|TTN_uc002umx.1_5'UTR	p.P10776Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		163	32551	-			11703					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.32327C>A		.	.	.	.	.	.	.	.	.	.	G	14.25	2.478248	0.44044	.	.	ENSG00000155657	ENST00000342992;ENST00000429997;ENST00000446966;ENST00000434777	T;T	0.68181	-0.31;-0.31	4.91	4.91	0.64330	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.64940	0.2644	M	0.78049	2.395	0.80722	D	1	B	0.14012	0.009	B	0.15052	0.012	T	0.67256	-0.5716	9	0.87932	D	0	.	7.6084	0.28115	0.0787:0.0:0.6369:0.2844	.	11703	Q8WZ42	TITIN_HUMAN	Q	10776;49;49;3	ENSP00000343764:P10776Q;ENSP00000408004:P49Q	ENSP00000343764:P10776Q	P	-	2	0	TTN	179223803	0.978000	0.34361	1.000000	0.80357	0.997000	0.91878	1.677000	0.37576	2.420000	0.82092	0.655000	0.94253	CCA		PASS	0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	6	3	6	---	---	---	---
PMS1	5378	broad.mit.edu	37	2	190728905	190728905	+	Missense_Mutation	SNP	C	C	T			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr2:190728905C>T	ENST00000441310.2	+	10	2526	c.2293C>T	c.(2293-2295)Cat>Tat	p.H765Y	PMS1_ENST00000432292.3_Missense_Mutation_p.H589Y|PMS1_ENST00000447232.2_Intron|PMS1_ENST00000409823.3_Missense_Mutation_p.H726Y|PMS1_ENST00000418224.3_Missense_Mutation_p.H589Y	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	765					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)	p.H765Y(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TCTTGAGAATCATAAACTTCC	0.323			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																														uc002urh.3			yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	Mis|N	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		colorectal|endometrial|ovarian			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(2293-2295)CAT>TAT	Direct_reversal_of_damage|MMR	postmeiotic segregation 1 isoform a							98.0	110.0	106.0					2																	190728905		2201	4300	6501	SO:0001583	missense	5378				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190728905C>T		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.2293C>T	2.37:g.190728905C>T	ENSP00000406490:p.His765Tyr					PMS1_uc010zgb.1_Missense_Mutation_p.H704Y|PMS1_uc002urk.3_Missense_Mutation_p.H726Y|PMS1_uc002uri.3_Intron|PMS1_uc010zgc.1_Missense_Mutation_p.H589Y|PMS1_uc010zgd.1_Missense_Mutation_p.H589Y|PMS1_uc002urj.2_Intron|PMS1_uc010fry.1_Intron|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Intron|PMS1_uc002urm.2_Intron	p.H765Y	NM_000534	NP_000525	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		10	2822	+			765					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	c.2293C>T	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895572	0.72639	.	.	ENSG00000064933	ENST00000441310;ENST00000418224;ENST00000409823;ENST00000432292;ENST00000424307;ENST00000452382	T;T;T;T;D;T	0.88818	1.83;1.83;1.83;1.83;-2.43;1.83	5.49	5.49	0.81192	.	0.141766	0.64402	D	0.000004	D	0.93910	0.8051	M	0.72894	2.215	0.52501	D	0.999959	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.66351	0.943;0.937;0.916	D	0.93971	0.7249	10	0.87932	D	0	-23.016	19.5721	0.95425	0.0:1.0:0.0:0.0	.	765;726;765	Q4VAL4;Q5FBZ3;P54277	.;.;PMS1_HUMAN	Y	765;589;726;589;704;153	ENSP00000406490:H765Y;ENSP00000404492:H589Y;ENSP00000387125:H726Y;ENSP00000398378:H589Y;ENSP00000389938:H704Y;ENSP00000396232:H153Y	ENSP00000387125:H726Y	H	+	1	0	PMS1	190437150	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.544000	0.60691	2.857000	0.98124	0.650000	0.86243	CAT		PASS	0.323	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			9	165	9	165	---	---	---	---
NABP1	64859	broad.mit.edu	37	2	192550416	192550416	+	Silent	SNP	A	A	G			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr2:192550416A>G	ENST00000425611.2	+	6	620	c.537A>G	c.(535-537)ctA>ctG	p.L179L	NABP1_ENST00000409510.1_Silent_p.L99L|NABP1_ENST00000410026.2_Silent_p.L99L	NM_001031716.2	NP_001026886.1	Q96AH0	SOSB2_HUMAN	nucleic acid binding protein 1	179					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SOSS complex (GO:0070876)	RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.L179L(1)									ATCCACAACTACAAGGAACAG	0.438																																						uc002usx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(535-537)CTA>CTG		oligonucleotide/oligosaccharide-binding fold							104.0	97.0	99.0					2																	192550416		2203	4300	6503	SO:0001819	synonymous_variant	64859				double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation	SOSS complex	single-stranded DNA binding	g.chr2:192550416A>G	BC017114	CCDS33352.1, CCDS58745.1	2q32.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000173559	ENSG00000173559			26232	protein-coding gene	gene with protein product	"""single-stranded DNA-binding protein 2"", ""sensor of single-strand DNA complex subunit B2"""	612103	"""oligonucleotide/oligosaccharide-binding fold containing 2A"""	OBFC2A			Standard	NM_001031716		Approved	FLJ22833, DKFZp667M1322, FLJ13624, MGC111163, SSB2, hSSB2, SOSS-B2	uc002usx.3	Q96AH0	OTTHUMG00000132720	ENST00000425611.2:c.537A>G	2.37:g.192550416A>G						OBFC2A_uc002usw.2_Silent_p.L99L|OBFC2A_uc002usy.2_RNA|OBFC2A_uc002usz.2_RNA|OBFC2A_uc002uta.2_Silent_p.L93L	p.L179L	NM_001031716	NP_001026886	Q96AH0	SOSB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)|Epithelial(96;0.244)		6	1017	+			179					Q658Y8|Q9H5X6	Silent	SNP	ENST00000425611.2	37	c.537A>G	CCDS33352.1	.	.	.	.	.	.	.	.	.	.	A	0.018	-1.481475	0.01027	.	.	ENSG00000173559	ENST00000435931	.	.	.	5.35	-2.83	0.05769	.	.	.	.	.	T	0.39436	0.1078	.	.	.	0.51767	D	0.999935	.	.	.	.	.	.	T	0.26395	-1.0104	4	.	.	.	.	2.4259	0.04459	0.4459:0.1218:0.3155:0.1168	.	.	.	.	C	143	.	.	Y	+	2	0	OBFC2A	192258661	0.019000	0.18553	0.240000	0.24138	0.001000	0.01503	-0.407000	0.07178	-0.944000	0.03686	-3.002000	0.00076	TAC		PASS	0.438	NABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256060.1	NM_022837		4	28	4	28	---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38739099	38739099	+	Missense_Mutation	SNP	A	A	G			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr3:38739099A>G	ENST00000449082.2	-	27	5611	c.5612T>C	c.(5611-5613)aTg>aCg	p.M1871T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1871	IQ.				AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.M1871T(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	AGAGAGTGCCATGGAGCGGTG	0.488																																						uc003ciq.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(5611-5613)ATG>ACG		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						147.0	130.0	136.0					3																	38739099		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38739099A>G	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.5612T>C	3.37:g.38739099A>G	ENSP00000390600:p.Met1871Thr						p.M1871T	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	27	5612	-			1871			IQ.		A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.5612T>C	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	A	4.942	0.175085	0.09391	.	.	ENSG00000185313	ENST00000449082	D	0.95518	-3.73	5.09	-0.0267	0.13929	.	0.657432	0.14105	N	0.341126	D	0.86859	0.6034	N	0.11427	0.14	0.09310	N	1	B	0.16396	0.017	B	0.16289	0.015	T	0.77749	-0.2471	10	0.66056	D	0.02	.	4.9574	0.14048	0.6648:0.0:0.2101:0.1251	.	1871	Q9Y5Y9	SCNAA_HUMAN	T	1871	ENSP00000390600:M1871T	ENSP00000390600:M1871T	M	-	2	0	SCN10A	38714103	0.000000	0.05858	0.002000	0.10522	0.555000	0.35460	-0.413000	0.07123	-0.142000	0.11354	0.533000	0.62120	ATG		PASS	0.488	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		15	56	15	56	---	---	---	---
BSN	8927	broad.mit.edu	37	3	49688345	49688345	+	Missense_Mutation	SNP	G	G	A			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr3:49688345G>A	ENST00000296452.4	+	4	1933	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	607					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.E607K(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CAGTGTCCAGGAAAAGAAGAC	0.612																																						uc003cxe.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(1819-1821)GAA>AAA		bassoon protein							102.0	120.0	114.0					3																	49688345		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49688345G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.1819G>A	3.37:g.49688345G>A	ENSP00000296452:p.Glu607Lys						p.E607K	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	4	1933	+			607					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.1819G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.406275	0.62288	.	.	ENSG00000164061	ENST00000296452	T	0.18657	2.2	5.34	5.34	0.76211	.	0.259259	0.36591	N	0.002518	T	0.24547	0.0595	L	0.56769	1.78	0.32734	N	0.508655	P	0.34522	0.455	B	0.32211	0.142	T	0.33240	-0.9876	10	0.51188	T	0.08	.	16.8371	0.85959	0.0:0.0:1.0:0.0	.	607	Q9UPA5	BSN_HUMAN	K	607	ENSP00000296452:E607K	ENSP00000296452:E607K	E	+	1	0	BSN	49663349	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	3.843000	0.55865	2.522000	0.85027	0.655000	0.94253	GAA		PASS	0.612	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		10	89	10	89	---	---	---	---
BSN	8927	broad.mit.edu	37	3	49689252	49689252	+	Missense_Mutation	SNP	G	G	A			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr3:49689252G>A	ENST00000296452.4	+	5	2377	c.2263G>A	c.(2263-2265)Gag>Aag	p.E755K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	755					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.E755K(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CGGTACTGGCGAGGAGCAGAA	0.627																																						uc003cxe.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(2263-2265)GAG>AAG		bassoon protein							35.0	37.0	36.0					3																	49689252		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49689252G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.2263G>A	3.37:g.49689252G>A	ENSP00000296452:p.Glu755Lys						p.E755K	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	2377	+			755					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.2263G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	g	1.016	-0.686307	0.03328	.	.	ENSG00000164061	ENST00000296452	T	0.18810	2.19	5.06	1.74	0.24563	.	0.502830	0.20246	N	0.096188	T	0.10508	0.0257	N	0.22421	0.69	0.19300	N	0.999974	B	0.09022	0.002	B	0.04013	0.001	T	0.35649	-0.9780	10	0.10902	T	0.67	.	6.3473	0.21357	0.2852:0.1347:0.5801:0.0	.	755	Q9UPA5	BSN_HUMAN	K	755	ENSP00000296452:E755K	ENSP00000296452:E755K	E	+	1	0	BSN	49664256	0.943000	0.32029	0.159000	0.22649	0.127000	0.20565	1.587000	0.36622	0.506000	0.28125	0.556000	0.70494	GAG		PASS	0.627	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		3	13	3	13	---	---	---	---
FILIP1L	11259	broad.mit.edu	37	3	99569313	99569313	+	Missense_Mutation	SNP	G	G	T	rs368410003		TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr3:99569313G>T	ENST00000354552.3	-	5	1677	c.1207C>A	c.(1207-1209)Ctt>Att	p.L403I	FILIP1L_ENST00000383694.2_Missense_Mutation_p.L163I|FILIP1L_ENST00000471562.1_Missense_Mutation_p.L163I|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.L403I|CMSS1_ENST00000421999.2_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	403						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.L403I(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TCCCTTTCAAGCCTCTTATTG	0.408																																						uc003dtm.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1207-1209)CTT>ATT		filamin A interacting protein 1-like isoform 1							171.0	161.0	164.0					3																	99569313		1842	4088	5930	SO:0001583	missense	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99569313G>T		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.1207C>A	3.37:g.99569313G>T	ENSP00000346560:p.Leu403Ile					C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.L403I|FILIP1L_uc010hpf.2_Intron|FILIP1L_uc010hpg.2_Missense_Mutation_p.L163I|FILIP1L_uc003dtn.2_Missense_Mutation_p.L163I|FILIP1L_uc003dtp.1_Missense_Mutation_p.L163I	p.L403I	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN			5	1670	-			403			Potential.		B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	c.1207C>A	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577819	0.65878	.	.	ENSG00000168386	ENST00000354552;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T	0.44881	1.17;0.91;1.17;0.91;0.93	5.7	5.7	0.88788	.	0.000000	0.45361	D	0.000364	T	0.63570	0.2522	M	0.81497	2.545	0.49051	D	0.999742	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.65545	-0.6142	10	0.51188	T	0.08	-7.1931	9.9858	0.41841	0.1553:0.0:0.8447:0.0	.	403;403	Q4L180-2;Q4L180	.;FIL1L_HUMAN	I	403;163;403;163;149;163	ENSP00000346560:L403I;ENSP00000419642:L163I;ENSP00000327880:L403I;ENSP00000373192:L163I;ENSP00000419874:L163I	ENSP00000327880:L403I	L	-	1	0	FILIP1L	101052003	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	5.547000	0.67249	2.675000	0.91044	0.655000	0.94253	CTT		PASS	0.408	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		5	224	5	224	---	---	---	---
MBD4	8930	broad.mit.edu	37	3	129152022	129152022	+	Missense_Mutation	SNP	C	C	T	rs368537488		TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr3:129152022C>T	ENST00000249910.1	-	6	1655	c.1480G>A	c.(1480-1482)Gca>Aca	p.A494T	MBD4_ENST00000429544.2_Missense_Mutation_p.A488T|MBD4_ENST00000509587.1_5'Flank|MBD4_ENST00000393278.2_Missense_Mutation_p.A176T|MBD4_ENST00000503197.1_Missense_Mutation_p.A494T|MBD4_ENST00000507208.1_Missense_Mutation_p.A494T	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	494					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.A494T(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						CTCCAGTCTGCGGTTCTTGCT	0.428								Base excision repair (BER), DNA glycosylases																														uc003emh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1480-1482)GCA>ACA	BER_DNA_glycosylases	methyl-CpG binding domain protein 4		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	131.0	130.0	130.0		1480	6.1	1.0	3		130	0,8600		0,0,4300	no	missense	MBD4	NM_003925.1	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	494/581	129152022	1,13005	2203	4300	6503	SO:0001583	missense	8930				depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding	g.chr3:129152022C>T	AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.1480G>A	3.37:g.129152022C>T	ENSP00000249910:p.Ala494Thr					MBD4_uc003emi.1_Missense_Mutation_p.A494T|MBD4_uc003emj.1_Missense_Mutation_p.A488T|MBD4_uc003emk.1_Missense_Mutation_p.A176T|MBD4_uc011bkw.1_Missense_Mutation_p.A494T	p.A494T	NM_003925	NP_003916	O95243	MBD4_HUMAN			6	1656	-			494					B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000249910.1	37	c.1480G>A	CCDS3058.1	.	.	.	.	.	.	.	.	.	.	C	34	5.332025	0.95733	2.27E-4	0.0	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000503197;ENST00000393278;ENST00000507208	D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31	6.05	6.05	0.98169	HhH-GPD domain (1);DNA glycosylase (2);	0.055099	0.64402	D	0.000001	D	0.94159	0.8126	M	0.80422	2.495	0.58432	D	0.999999	D;D;D;D;D	0.89917	0.999;0.999;0.996;1.0;0.997	P;D;P;D;P	0.97110	0.867;0.919;0.79;1.0;0.867	D	0.93820	0.7118	10	0.72032	D	0.01	-7.9363	20.2554	0.98417	0.0:1.0:0.0:0.0	.	494;176;488;494;494	E9PEE4;Q2MD36;O95243-2;O95243-3;O95243	.;.;.;.;MBD4_HUMAN	T	488;494;494;176;494	ENSP00000394080:A488T;ENSP00000249910:A494T;ENSP00000424873:A494T;ENSP00000376959:A176T;ENSP00000422327:A494T	ENSP00000249910:A494T	A	-	1	0	MBD4	130634712	1.000000	0.71417	0.969000	0.41365	0.975000	0.68041	4.317000	0.59184	2.886000	0.99085	0.650000	0.86243	GCA		PASS	0.428	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925		5	110	5	110	---	---	---	---
ACPP	55	broad.mit.edu	37	3	132056300	132056300	+	Splice_Site	SNP	T	T	C			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr3:132056300T>C	ENST00000336375.5	+	5	547	c.457T>C	c.(457-459)Ttg>Ctg	p.L153L	ACPP_ENST00000475741.1_Intron|ACPP_ENST00000351273.7_Splice_Site_p.L153L	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	153					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)	p.L153L(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TTATCCTCAGTTGCTATACCT	0.388																																						uc010htp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(457-459)TTG>CTG		acid phosphatase, prostate short isoform							95.0	90.0	92.0					3																	132056300		2203	4300	6503	SO:0001630	splice_region_variant	55					extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	g.chr3:132056300T>C		CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.457-1T>C	3.37:g.132056300T>C						ACPP_uc003eon.3_Intron|ACPP_uc003eop.3_Silent_p.L153L	p.L153L	NM_001099	NP_001090	P15309	PPAP_HUMAN			5	547	+			153					D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Silent	SNP	ENST00000336375.5	37	c.457T>C	CCDS3073.1																																																																																				PASS	0.388	ACPP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356699.2	NM_001099	Silent	29	66	29	66	---	---	---	---
VEPH1	79674	broad.mit.edu	37	3	157099020	157099020	+	Missense_Mutation	SNP	C	C	T			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr3:157099020C>T	ENST00000362010.2	-	7	1359	c.1052G>A	c.(1051-1053)cGc>cAc	p.R351H	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.R351H|VEPH1_ENST00000543418.1_Missense_Mutation_p.R351H|VEPH1_ENST00000392833.2_Missense_Mutation_p.R351H	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	351						plasma membrane (GO:0005886)		p.R351H(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GTTGCTCATGCGGAAGATGTC	0.498																																						uc003fbj.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|lung(1)	5						c.(1051-1053)CGC>CAC		ventricular zone expressed PH domain homolog 1							196.0	183.0	187.0					3																	157099020		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157099020C>T	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1052G>A	3.37:g.157099020C>T	ENSP00000354919:p.Arg351His					VEPH1_uc003fbk.1_Missense_Mutation_p.R351H|VEPH1_uc010hvu.1_Missense_Mutation_p.R351H	p.R351H	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		7	1369	-			351					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.1052G>A	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	C	34	5.348390	0.95807	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.11169	2.8;2.86;2.8;2.86	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.34716	0.0907	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.02654	-1.1128	10	0.62326	D	0.03	4.5775	18.3449	0.90318	0.0:1.0:0.0:0.0	.	351;351	Q14D04-2;Q14D04	.;MELT_HUMAN	H	351	ENSP00000376578:R351H;ENSP00000354919:R351H;ENSP00000446258:R351H;ENSP00000376577:R351H	ENSP00000354919:R351H	R	-	2	0	VEPH1	158581714	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.224000	0.78042	2.569000	0.86673	0.655000	0.94253	CGC		PASS	0.498	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		12	132	12	132	---	---	---	---
PEX5L	51555	broad.mit.edu	37	3	179593213	179593213	+	Silent	SNP	T	T	C			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr3:179593213T>C	ENST00000467460.1	-	6	888	c.558A>G	c.(556-558)cgA>cgG	p.R186R	PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000476138.1_Silent_p.R143R|PEX5L_ENST00000464614.1_Silent_p.R78R|PEX5L_ENST00000472994.1_Silent_p.R127R|PEX5L_ENST00000485199.1_Silent_p.R151R|PEX5L_ENST00000263962.8_Silent_p.R184R|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000392649.3_Silent_p.R78R|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000465751.1_Silent_p.R162R	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	186					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)	p.R186R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CCTTGGTATTTCGATCTCCAT	0.453																																						uc003fki.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(556-558)CGA>CGG		peroxisomal biogenesis factor 5-like							196.0	171.0	179.0					3																	179593213		2203	4300	6503	SO:0001819	synonymous_variant	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179593213T>C	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.558A>G	3.37:g.179593213T>C						PEX5L_uc011bqd.1_Silent_p.R143R|PEX5L_uc011bqe.1_5'UTR|PEX5L_uc011bqf.1_Silent_p.R78R|PEX5L_uc003fkj.1_Silent_p.R151R|PEX5L_uc010hxd.1_Silent_p.R184R|PEX5L_uc011bqg.1_Silent_p.R162R|PEX5L_uc011bqh.1_Silent_p.R127R	p.R186R	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		6	688	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		186					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Silent	SNP	ENST00000467460.1	37	c.558A>G	CCDS3236.1																																																																																				PASS	0.453	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		31	72	31	72	---	---	---	---
BOD1L1	259282	broad.mit.edu	37	4	13605554	13605554	+	Silent	SNP	A	A	G			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr4:13605554A>G	ENST00000040738.5	-	10	3105	c.2970T>C	c.(2968-2970)caT>caC	p.H990H		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	990	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.H990H(1)									ACTTGGCTCTATGACTAGAAT	0.398																																						uc003gmz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|breast(1)	6						c.(2968-2970)CAT>CAC		biorientation of chromosomes in cell division							200.0	213.0	209.0					4																	13605554		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13605554A>G	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.2970T>C	4.37:g.13605554A>G						BOD1L_uc010idr.1_Silent_p.H327H	p.H990H	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	3087	-			990			Lys-rich.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.2970T>C	CCDS3411.2																																																																																				PASS	0.398	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		4	230	4	230	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46067426	46067426	+	Missense_Mutation	SNP	C	C	T			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr4:46067426C>T	ENST00000295452.4	-	4	664	c.497G>A	c.(496-498)cGt>cAt	p.R166H		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	166					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R166H(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCGAAGCAGACGATTAGGAGT	0.333																																						uc003gxb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(496-498)CGT>CAT		gamma-aminobutyric acid A receptor, gamma 1							92.0	90.0	90.0					4																	46067426		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46067426C>T	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.497G>A	4.37:g.46067426C>T	ENSP00000295452:p.Arg166His						p.R166H	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	4	649	-			166			Extracellular (Probable).		Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.497G>A	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931215	0.92389	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.79352	-1.26	5.08	5.08	0.68730	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.86062	0.5843	M	0.65498	2.005	0.52099	D	0.999947	D	0.59357	0.985	P	0.62089	0.898	D	0.87607	0.2501	10	0.87932	D	0	.	17.8218	0.88652	0.0:1.0:0.0:0.0	.	166	Q8N1C3	GBRG1_HUMAN	H	166	ENSP00000295452:R166H	ENSP00000295452:R166H	R	-	2	0	GABRG1	45762183	0.999000	0.42202	0.998000	0.56505	0.986000	0.74619	4.027000	0.57239	2.513000	0.84729	0.508000	0.49915	CGT		PASS	0.333	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		8	58	8	58	---	---	---	---
ENPEP	2028	broad.mit.edu	37	4	111397798	111397798	+	Silent	SNP	C	C	T			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr4:111397798C>T	ENST00000265162.5	+	1	570	c.228C>T	c.(226-228)gaC>gaT	p.D76D		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	76					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D76D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		AGGACCAGGACATCTGCCCGG	0.652																																						uc003iab.3																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)|breast(1)	5						c.(226-228)GAC>GAT		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						62.0	65.0	64.0					4																	111397798		2203	4300	6503	SO:0001819	synonymous_variant	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111397798C>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.228C>T	4.37:g.111397798C>T							p.D76D	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	1	570	+		Hepatocellular(203;0.217)	76			Extracellular (Potential).		Q504U2	Silent	SNP	ENST00000265162.5	37	c.228C>T	CCDS3691.1																																																																																				PASS	0.652	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			8	55	8	55	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114209638	114209638	+	Missense_Mutation	SNP	C	C	A			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr4:114209638C>A	ENST00000357077.4	+	20	2326	c.2273C>A	c.(2272-2274)aCc>aAc	p.T758N	ANK2_ENST00000264366.6_Missense_Mutation_p.T758N|ANK2_ENST00000394537.3_Missense_Mutation_p.T758N|ANK2_ENST00000506722.1_Missense_Mutation_p.T737N	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	758					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.T758N(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AACGCAAAAACCAAGGTAAAG	0.373																																						uc003ibe.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(2272-2274)ACC>AAC		ankyrin 2 isoform 1							80.0	78.0	79.0					4																	114209638		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114209638C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2273C>A	4.37:g.114209638C>A	ENSP00000349588:p.Thr758Asn					ANK2_uc003ibd.3_Missense_Mutation_p.T737N|ANK2_uc003ibf.3_Missense_Mutation_p.T758N|ANK2_uc003ibc.2_Missense_Mutation_p.T734N|ANK2_uc011cgb.1_Missense_Mutation_p.T773N	p.T758N	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	20	2373	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	758					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.2273C>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675764	0.88445	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45;2.45;2.45	5.15	5.15	0.70609	Ankyrin repeat-containing domain (3);	0.000000	0.47455	D	0.000235	T	0.15089	0.0364	N	0.00459	-1.475	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.973	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.998;0.99	T	0.65598	-0.6129	10	0.62326	D	0.03	.	18.6162	0.91303	0.0:1.0:0.0:0.0	.	758;758;758;737;737	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	N	737;704;737;773;758;758;758;737	ENSP00000423799:T737N;ENSP00000421011:T704N;ENSP00000421067:T737N;ENSP00000424722:T773N;ENSP00000378044:T758N;ENSP00000349588:T758N;ENSP00000264366:T758N	ENSP00000264366:T758N	T	+	2	0	ANK2	114429087	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.800000	0.85949	2.381000	0.81170	0.460000	0.39030	ACC		PASS	0.373	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		6	29	6	29	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126329937	126329937	+	Missense_Mutation	SNP	G	G	A			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr4:126329937G>A	ENST00000394329.3	+	4	5921	c.5908G>A	c.(5908-5910)Gat>Aat	p.D1970N	FAT4_ENST00000335110.5_Missense_Mutation_p.D268N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1970	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D1970N(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAATGTTACTGATGCAGATGA	0.289																																						uc003ifj.3																			2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(5908-5910)GAT>AAT		FAT tumor suppressor homolog 4 precursor							106.0	108.0	107.0					4																	126329937		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126329937G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5908G>A	4.37:g.126329937G>A	ENSP00000377862:p.Asp1970Asn					FAT4_uc011cgp.1_Missense_Mutation_p.D268N	p.D1970N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			4	5908	+			1970			Cadherin 19.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.5908G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828480	0.90955	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.74526	-0.85;-0.85	5.22	5.22	0.72569	Cadherin (4);Cadherin-like (1);	0.000000	0.35378	U	0.003259	D	0.92642	0.7662	H	0.99197	4.465	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	D	0.95831	0.8858	10	0.87932	D	0	.	18.7965	0.91995	0.0:0.0:1.0:0.0	.	268;1970	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	N	1970;268	ENSP00000377862:D1970N;ENSP00000335169:D268N	ENSP00000335169:D268N	D	+	1	0	FAT4	126549387	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.273000	0.95719	2.433000	0.82419	0.650000	0.86243	GAT		PASS	0.289	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		4	111	4	111	---	---	---	---
TRIML1	339976	broad.mit.edu	37	4	189067976	189067976	+	Splice_Site	SNP	C	C	A			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr4:189067976C>A	ENST00000332517.3	+	6	997	c.857C>A	c.(856-858)aCg>aAg	p.T286K	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	286	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.T286K(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CCTCTTGCAGCGGAGATAACG	0.468																																					Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(856-858)ACG>AAG		tripartite motif family-like 1							136.0	141.0	140.0					4																	189067976		2203	4300	6503	SO:0001630	splice_region_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189067976C>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.857-1C>A	4.37:g.189067976C>A						TRIML1_uc003izn.1_Missense_Mutation_p.T10K	p.T286K	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	972	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	286			B30.2/SPRY.		Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.857C>A	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	c	0.040	-1.288256	0.01387	.	.	ENSG00000184108	ENST00000332517	T	0.04758	3.56	4.92	4.01	0.46588	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.529823	0.17498	N	0.172104	T	0.04497	0.0123	L	0.33668	1.02	0.44485	D	0.997424	B	0.28636	0.218	B	0.23275	0.045	T	0.49597	-0.8923	9	.	.	.	.	13.2939	0.60286	0.0:0.8394:0.1606:0.0	.	286	Q8N9V2	TRIML_HUMAN	K	286	ENSP00000327738:T286K	.	T	+	2	0	TRIML1	189304970	0.076000	0.21285	0.906000	0.35671	0.155000	0.21991	0.465000	0.22004	2.749000	0.94314	0.550000	0.68814	ACG		PASS	0.468	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556	Missense_Mutation	23	144	23	144	---	---	---	---
UGT3A1	133688	broad.mit.edu	37	5	35988612	35988612	+	Missense_Mutation	SNP	G	G	C			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr5:35988612G>C	ENST00000274278.3	-	2	493	c.136C>G	c.(136-138)Ctt>Gtt	p.L46V	UGT3A1_ENST00000507113.1_Intron|UGT3A1_ENST00000333811.4_5'UTR|UGT3A1_ENST00000503189.1_Missense_Mutation_p.L46V|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	46						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.L46V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGCTCTTGAAGAATCTGAGAC	0.343																																						uc003jjv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(136-138)CTT>GTT		UDP glycosyltransferase 3 family, polypeptide A1							88.0	85.0	86.0					5																	35988612		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35988612G>C		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.136C>G	5.37:g.35988612G>C	ENSP00000274278:p.Leu46Val					UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.L46V|UGT3A1_uc011cor.1_Intron|UGT3A1_uc003jjy.1_5'UTR	p.L46V	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		2	293	-	all_lung(31;0.000197)		46			Extracellular (Potential).		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.136C>G	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447094	0.43429	.	.	ENSG00000145626	ENST00000274278;ENST00000503189	D;D	0.84800	-1.9;-1.9	3.2	3.2	0.36748	.	0.150334	0.27306	U	0.019962	D	0.93530	0.7935	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94634	0.7824	10	0.72032	D	0.01	.	12.6717	0.56870	0.0:0.0:1.0:0.0	.	46;46	B7Z8Q8;Q6NUS8	.;UD3A1_HUMAN	V	46	ENSP00000274278:L46V;ENSP00000427079:L46V	ENSP00000274278:L46V	L	-	1	0	UGT3A1	36024369	1.000000	0.71417	0.997000	0.53966	0.415000	0.31203	4.003000	0.57061	1.707000	0.51288	0.455000	0.32223	CTT		PASS	0.343	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		3	39	3	39	---	---	---	---
UGT3A2	167127	broad.mit.edu	37	5	36049476	36049476	+	Missense_Mutation	SNP	G	G	C			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr5:36049476G>C	ENST00000282507.3	-	4	459	c.358C>G	c.(358-360)Cag>Gag	p.Q120E	UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.Q86E	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	120					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.Q120E(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGACTGCACTGCAACGCCAAG	0.303																																						uc003jjz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(358-360)CAG>GAG		UDP glycosyltransferase 3 family, polypeptide A2							45.0	49.0	48.0					5																	36049476		2203	4300	6503	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36049476G>C		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.358C>G	5.37:g.36049476G>C	ENSP00000282507:p.Gln120Glu					UGT3A2_uc011cos.1_Missense_Mutation_p.Q86E|UGT3A2_uc011cot.1_Intron	p.Q120E	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	451	-	all_lung(31;0.000179)		120			Extracellular (Potential).		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.358C>G	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	G	2.736	-0.263347	0.05754	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000515131	T;T;T	0.61510	0.1;0.1;1.35	3.1	1.89	0.25635	.	0.263700	0.22718	U	0.056495	T	0.48943	0.1528	M	0.64404	1.975	0.19300	N	0.999976	B;P	0.43938	0.409;0.822	B;B	0.40702	0.216;0.338	T	0.34601	-0.9822	10	0.23302	T	0.38	.	7.5933	0.28033	0.1881:0.0:0.8119:0.0	.	86;120	E9PFK7;Q3SY77	.;UD3A2_HUMAN	E	120;86;120	ENSP00000282507:Q120E;ENSP00000427404:Q86E;ENSP00000420865:Q120E	ENSP00000282507:Q120E	Q	-	1	0	UGT3A2	36085233	0.954000	0.32549	0.002000	0.10522	0.214000	0.24535	1.704000	0.37857	0.598000	0.29829	0.655000	0.94253	CAG		PASS	0.303	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		6	51	6	51	---	---	---	---
MAST4	375449	broad.mit.edu	37	5	66391439	66391439	+	Missense_Mutation	SNP	G	G	A			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr5:66391439G>A	ENST00000403625.2	+	7	1143	c.848G>A	c.(847-849)cGc>cAc	p.R283H	MAST4_ENST00000403666.1_Missense_Mutation_p.R94H|MAST4_ENST00000404260.3_Missense_Mutation_p.R286H|MAST4_ENST00000261569.7_Missense_Mutation_p.R89H|MAST4_ENST00000490016.2_Missense_Mutation_p.R94H|MAST4_ENST00000405643.1_Missense_Mutation_p.R104H	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	286						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.R286H(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GATGGACGCCGCTGGTCGTTG	0.468																																						uc003jut.1																			1	Substitution - Missense(1)		lung(1)	lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13						c.(280-282)CGC>CAC		microtubule associated serine/threonine kinase							80.0	86.0	84.0					5																	66391439		1974	4165	6139	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66391439G>A	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.848G>A	5.37:g.66391439G>A	ENSP00000385727:p.Arg283His					MAST4_uc003jus.2_Missense_Mutation_p.R94H|MAST4_uc003juu.1_Missense_Mutation_p.R104H|MAST4_uc011cra.1_Missense_Mutation_p.R77H|MAST4_uc010ixa.2_RNA|MAST4_uc003juv.2_Missense_Mutation_p.R89H|MAST4_uc003juw.2_Missense_Mutation_p.R89H	p.R94H	NM_015183	NP_055998	O15021	MAST4_HUMAN		Lung(70;0.011)	6	349	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	286					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.281G>A	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	G	34	5.380885	0.95945	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000490016;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000436277;ENST00000432399	T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84	6.04	6.04	0.98038	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.000000	0.56097	U	0.000032	T	0.78310	0.4263	M	0.92169	3.28	0.48571	D	0.999673	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.996	T	0.82108	-0.0620	10	0.87932	D	0	-15.4056	20.5948	0.99439	0.0:0.0:1.0:0.0	.	104;286;89;94;94	E7EWQ5;O15021;O15021-2;O15021-3;D6RAK1	.;MAST4_HUMAN;.;.;.	H	286;283;94;94;104;104;89;89;89	ENSP00000385048:R286H;ENSP00000385727:R283H;ENSP00000421739:R94H;ENSP00000384313:R94H;ENSP00000384099:R104H;ENSP00000261569:R89H;ENSP00000392478:R89H	ENSP00000261569:R89H	R	+	2	0	MAST4	66427195	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.873000	0.98535	0.563000	0.77884	CGC		PASS	0.468	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			4	10	4	10	---	---	---	---
RASGRF2	5924	broad.mit.edu	37	5	80369249	80369249	+	Missense_Mutation	SNP	G	G	T			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr5:80369249G>T	ENST00000265080.4	+	5	932	c.865G>T	c.(865-867)Gtc>Ttc	p.V289F	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	289	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V289F(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CCACGACGACGTCAGCAGTAT	0.448																																						uc003kha.1																			1	Substitution - Missense(1)		lung(1)	breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12						c.(865-867)GTC>TTC		Ras protein-specific guanine							64.0	63.0	63.0					5																	80369249		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80369249G>T	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.865G>T	5.37:g.80369249G>T	ENSP00000265080:p.Val289Phe					RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_Missense_Mutation_p.V117F	p.V289F	NM_006909	NP_008840	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	5	865	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	289			DH.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.865G>T	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914660	0.92178	.	.	ENSG00000113319	ENST00000265080	T	0.64803	-0.12	5.3	5.3	0.74995	Dbl homology (DH) domain (5);	0.060153	0.64402	D	0.000003	T	0.78387	0.4275	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	T	0.79957	-0.1584	10	0.87932	D	0	.	19.32	0.94234	0.0:0.0:1.0:0.0	.	289;289	D6RAS9;O14827	.;RGRF2_HUMAN	F	289	ENSP00000265080:V289F	ENSP00000265080:V289F	V	+	1	0	RASGRF2	80405005	1.000000	0.71417	0.959000	0.39883	0.798000	0.45092	9.813000	0.99286	2.627000	0.88993	0.478000	0.44815	GTC		PASS	0.448	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		6	31	6	31	---	---	---	---
ATG12	9140	broad.mit.edu	37	5	115177356	115177356	+	5'UTR	SNP	T	T	C			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr5:115177356T>C	ENST00000509910.1	-	0	199				ATG12_ENST00000500945.2_5'Flank|ATG12_ENST00000509598.1_5'Flank|ATG12_ENST00000274459.4_Missense_Mutation_p.N12S|AP3S1_ENST00000316788.7_5'UTR			O94817	ATG12_HUMAN	autophagy related 12						autophagic vacuole assembly (GO:0000045)|C-terminal protein lipidation (GO:0006501)|cellular response to nitrogen starvation (GO:0006995)|innate immune response (GO:0045087)|mitochondrion degradation (GO:0000422)|negative regulation of type I interferon production (GO:0032480)|nucleophagy (GO:0044804)	Atg12-Atg5-Atg16 complex (GO:0034274)|pre-autophagosomal structure membrane (GO:0034045)	Atg8 ligase activity (GO:0019776)	p.N12S(1)		endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		GGGGACGCAATTACACAGTGA	0.557																																						uc003krh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(34-36)AAT>AGT		APG12 autophagy 12-like							72.0	85.0	80.0					5																	115177356		2202	4300	6502	SO:0001623	5_prime_UTR_variant	9140				autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding	g.chr5:115177356T>C	AB017507	CCDS4122.1, CCDS4122.2, CCDS64222.1	5q21-q22	2014-02-12	2012-06-06	2005-09-11	ENSG00000145782	ENSG00000145782			588	protein-coding gene	gene with protein product	"""APG12 autophagy 12-like"""	609608	"""Apg12 (autophagy 12, S. cerevisiae)-like"", ""APG12 autophagy 12-like (S. cerevisiae)"", ""ATG12 autophagy related 12 homolog (S. cerevisiae)"""	APG12L		9852036	Standard	NM_004707		Approved	APG12	uc003krh.3	O94817	OTTHUMG00000128889	ENST00000509910.1:c.-107A>G	5.37:g.115177356T>C						AP3S1_uc003krl.2_5'Flank|AP3S1_uc003krk.2_5'Flank|AP3S1_uc003krm.2_5'Flank|ATG12_uc003kri.2_Missense_Mutation_p.N12S|ATG12_uc003krj.2_RNA	p.N12S	NM_004707	NP_004698	O94817	ATG12_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)	1	144	-		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	Error:Variant_position_missing_in_O94817_after_alignment					Q6PJV2	Missense_Mutation	SNP	ENST00000509910.1	37	c.35A>G	CCDS4122.2	.	.	.	.	.	.	.	.	.	.	T	13.74	2.326939	0.41197	.	.	ENSG00000145782	ENST00000274459	.	.	.	4.24	-1.57	0.08506	.	1.380240	0.05229	N	0.509982	T	0.26919	0.0659	.	.	.	0.20307	N	0.999915	B	0.02656	0.0	B	0.01281	0.0	T	0.32824	-0.9892	8	0.87932	D	0	-19.9448	0.4335	0.00475	0.3446:0.2804:0.1583:0.2167	.	12	C1IDX9	.	S	12	.	ENSP00000274459:N12S	N	-	2	0	ATG12	115205255	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.365000	0.02587	-0.111000	0.12001	-0.242000	0.12053	AAT		PASS	0.557	ATG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250851.3	NM_004707		7	86	7	86	---	---	---	---
HSPA4	3308	broad.mit.edu	37	5	132426993	132426993	+	Missense_Mutation	SNP	C	C	G			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr5:132426993C>G	ENST00000304858.2	+	12	1776	c.1487C>G	c.(1486-1488)tCt>tGt	p.S496C		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	496					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.S496C(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCAGTGCATCTTTAGTGGAG	0.423																																					Colon(114;1299 1588 6063 12302 48757)	uc003kyj.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(1486-1488)TCT>TGT		heat shock 70kDa protein 4							176.0	172.0	174.0					5																	132426993		2203	4300	6503	SO:0001583	missense	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132426993C>G	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.1487C>G	5.37:g.132426993C>G	ENSP00000302961:p.Ser496Cys						p.S496C	NM_002154	NP_002145	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		12	1768	+			496					O95756|Q2TAL4|Q9BUK9	Missense_Mutation	SNP	ENST00000304858.2	37	c.1487C>G	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496458	0.85069	.	.	ENSG00000170606	ENST00000304858	T	0.01068	5.38	5.93	5.93	0.95920	.	0.106321	0.64402	D	0.000002	T	0.05593	0.0147	M	0.70787	2.145	0.80722	D	1	D	0.54047	0.964	P	0.55112	0.769	T	0.04664	-1.0935	10	0.72032	D	0.01	-6.146	20.3539	0.98825	0.0:1.0:0.0:0.0	.	496	P34932	HSP74_HUMAN	C	496	ENSP00000302961:S496C	ENSP00000302961:S496C	S	+	2	0	HSPA4	132454892	1.000000	0.71417	0.615000	0.29064	0.583000	0.36354	7.487000	0.81328	2.826000	0.97356	0.655000	0.94253	TCT		PASS	0.423	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		5	72	5	72	---	---	---	---
PCDHGA1	56114	broad.mit.edu	37	5	140710510	140710510	+	Missense_Mutation	SNP	G	G	T			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr5:140710510G>T	ENST00000517417.1	+	1	259	c.259G>T	c.(259-261)Gcg>Tcg	p.A87S	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A87S|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	87	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A87S(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGATCACCGCGCGCAGGAT	0.542																																						uc003lji.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|pancreas(1)	3						c.(259-261)GCG>TCG		protocadherin gamma subfamily A, 1 isoform 1							110.0	122.0	118.0					5																	140710510		2203	4300	6503	SO:0001583	missense	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140710510G>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.259G>T	5.37:g.140710510G>T	ENSP00000431083:p.Ala87Ser					PCDHGA1_uc011dan.1_Missense_Mutation_p.A87S	p.A87S	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	259	+			87			Cadherin 1.|Extracellular (Potential).		Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.259G>T	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263351	0.23051	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.26660	1.72;1.72	4.37	3.49	0.39957	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.137678	0.32719	N	0.005730	T	0.26955	0.0660	M	0.61703	1.905	0.09310	N	1	B;P	0.41569	0.285;0.755	B;B	0.42555	0.211;0.391	T	0.19712	-1.0297	10	0.87932	D	0	.	6.4444	0.21867	0.0854:0.0:0.5881:0.3265	.	87;87	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	S	87	ENSP00000431083:A87S;ENSP00000367345:A87S	ENSP00000367345:A87S	A	+	1	0	PCDHGA1	140690694	0.000000	0.05858	0.970000	0.41538	0.838000	0.47535	0.159000	0.16442	1.171000	0.42768	0.655000	0.94253	GCG		PASS	0.542	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		4	108	4	108	---	---	---	---
CYP21A2	1589	broad.mit.edu	37	6	32007980	32007980	+	Missense_Mutation	SNP	G	G	C			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr6:32007980G>C	ENST00000418967.2	+	7	1095	c.937G>C	c.(937-939)Gag>Cag	p.E313Q	CYP21A2_ENST00000435122.2_Missense_Mutation_p.E283Q	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	312					glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)	p.E313Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	TCACCACCCTGAGGTGCGTCC	0.627																																					Melanoma(174;1669 1998 3915 34700 46447)	uc003nze.1																			1	Substitution - Missense(1)		lung(1)		0						c.(937-939)GAG>CAG		cytochrome P450, family 21, subfamily A,							122.0	137.0	132.0					6																	32007980		1511	2709	4220	SO:0001583	missense	1589				glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding	g.chr6:32007980G>C	X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"""Cytochrome P450s"""	2600	protein-coding gene	gene with protein product	"""Steroid 21-monooxygenase"""	613815	"""cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"""	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.937G>C	6.37:g.32007980G>C	ENSP00000408860:p.Glu313Gln					CYP21A2_uc003nzf.1_Missense_Mutation_p.E283Q	p.E313Q	NM_000500	NP_000491	P08686	CP21A_HUMAN			7	1055	+			312					A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Missense_Mutation	SNP	ENST00000418967.2	37	c.937G>C	CCDS4735.1	.	.	.	.	.	.	.	.	.	.	g	15.82	2.946093	0.53079	.	.	ENSG00000231852	ENST00000418967;ENST00000435122	D;D	0.81821	-1.54;-1.54	4.96	4.96	0.65561	.	0.000000	0.49305	D	0.000148	D	0.82838	0.5124	L	0.60904	1.88	0.44073	D	0.996824	D;D	0.60575	0.988;0.972	D;P	0.65573	0.936;0.867	T	0.81339	-0.0977	10	0.34782	T	0.22	.	14.0516	0.64739	0.0:0.0:1.0:0.0	.	283;313	Q5ST44;Q16874	.;.	Q	313;283	ENSP00000408860:E313Q;ENSP00000415043:E283Q	ENSP00000408860:E313Q	E	+	1	0	CYP21A2	32115959	0.996000	0.38824	1.000000	0.80357	0.494000	0.33585	2.255000	0.43222	2.463000	0.83235	0.556000	0.70494	GAG		PASS	0.627	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268768.2	NM_000500		3	115	3	115	---	---	---	---
AGPAT1	10554	broad.mit.edu	37	6	32137188	32137188	+	Silent	SNP	C	C	A			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr6:32137188C>A	ENST00000395499.1	-	7	1296	c.717G>T	c.(715-717)acG>acT	p.T239T	AGPAT1_ENST00000375104.2_Silent_p.T239T|AGPAT1_ENST00000395497.1_Silent_p.T239T|AGPAT1_ENST00000412465.2_Silent_p.T127T|AGPAT1_ENST00000375107.3_Silent_p.T239T|AGPAT1_ENST00000395496.1_Silent_p.T239T|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000336984.6_Silent_p.T239T|AGPAT1_ENST00000490711.1_5'UTR			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	239					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.T239T(1)		central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						TCAGCCCTTCCGTGGGCACTG	0.637																																						uc003oae.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(715-717)ACG>ACT		1-acylglycerol-3-phosphate O-acyltransferase 1							116.0	108.0	111.0					6																	32137188		1510	2709	4219	SO:0001819	synonymous_variant	10554				energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr6:32137188C>A	U56417	CCDS4744.1	6p21.3	2013-02-05	2013-02-05		ENSG00000204310	ENSG00000204310	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	324	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, alpha"""	603099	"""1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha)"""			9461603, 9291118	Standard	NM_032741		Approved	LPAAT-alpha	uc003oae.3	Q99943	OTTHUMG00000031210	ENST00000395499.1:c.717G>T	6.37:g.32137188C>A						PPT2_uc003nzy.1_RNA|AGPAT1_uc011dpj.1_RNA|AGPAT1_uc011dpk.1_Silent_p.T203T|AGPAT1_uc003oaf.2_Silent_p.T239T|AGPAT1_uc003oag.2_Silent_p.T129T|AGPAT1_uc003oah.2_Silent_p.T239T|AGPAT1_uc003oai.1_Silent_p.T239T|AGPAT1_uc011dpl.1_Silent_p.T127T	p.T239T	NM_006411	NP_006402	Q99943	PLCA_HUMAN			7	1035	-			239					A2BFI5|Q5BL03	Silent	SNP	ENST00000395499.1	37	c.717G>T	CCDS4744.1																																																																																				PASS	0.637	AGPAT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268941.1	NM_006411		14	75	14	75	---	---	---	---
DST	667	broad.mit.edu	37	6	56494056	56494056	+	Silent	SNP	A	A	T			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr6:56494056A>T	ENST00000361203.3	-	28	3841	c.3834T>A	c.(3832-3834)atT>atA	p.I1278I	DST_ENST00000518935.1_Silent_p.I952I|DST_ENST00000370754.5_Silent_p.I1456I|DST_ENST00000370765.6_Silent_p.I952I|DST_ENST00000312431.6_Silent_p.I1278I|DST_ENST00000244364.6_Silent_p.I952I|DST_ENST00000370769.4_Silent_p.I1278I|DST_ENST00000421834.2_Silent_p.I1278I|DST_ENST00000370788.2_Silent_p.I1278I|DST_ENST00000446842.2_Silent_p.I952I			Q03001	DYST_HUMAN	dystonin	1278					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.I952I(3)|p.I1278I(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACCTGTTGTCAATCTGCACAT	0.323																																						uc003pdf.2																			4	Substitution - coding silent(4)		lung(4)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(4366-4368)ATT>ATA		dystonin isoform 2							245.0	203.0	217.0					6																	56494056		2203	4300	6503	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56494056A>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3834T>A	6.37:g.56494056A>T						DST_uc003pcz.3_Silent_p.I1278I|DST_uc011dxj.1_Silent_p.I1307I|DST_uc011dxk.1_Silent_p.I1318I|DST_uc003pcy.3_Silent_p.I952I|DST_uc003pdb.2_Silent_p.I952I|DST_uc003pdc.3_Silent_p.I952I|DST_uc003pdd.3_Silent_p.I952I	p.I1456I	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		31	4396	-	Lung NSC(77;0.103)		1278					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.4368T>A																																																																																					PASS	0.323	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		8	98	8	98	---	---	---	---
RIMS1	22999	broad.mit.edu	37	6	72806810	72806810	+	Missense_Mutation	SNP	G	G	T			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr6:72806810G>T	ENST00000521978.1	+	3	404	c.404G>T	c.(403-405)tGt>tTt	p.C135F	RIMS1_ENST00000522291.1_Missense_Mutation_p.C135F|RIMS1_ENST00000348717.5_Missense_Mutation_p.C135F|RIMS1_ENST00000517960.1_Missense_Mutation_p.C135F|RIMS1_ENST00000264839.7_Missense_Mutation_p.C135F|RIMS1_ENST00000520567.1_Missense_Mutation_p.C135F|RIMS1_ENST00000491071.2_Missense_Mutation_p.C135F|RIMS1_ENST00000518273.1_Missense_Mutation_p.C135F	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	135	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.C135F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TGCTCCTATTGTCGCACTAAG	0.517																																						uc003pga.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)	10						c.(403-405)TGT>TTT		regulating synaptic membrane exocytosis 1							86.0	90.0	88.0					6																	72806810		2088	4235	6323	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72806810G>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.404G>T	6.37:g.72806810G>T	ENSP00000428417:p.Cys135Phe						p.C135F	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			3	481	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	135			RabBD.|FYVE-type.		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.404G>T	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963054	0.92791	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	D;D;D;D;D;D;D;D	0.99854	-7.19;-7.19;-7.19;-7.19;-7.19;-7.19;-7.19;-7.19	5.81	5.81	0.92471	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000002	D	0.99904	0.9954	M	0.90425	3.115	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.96610	0.9451	10	0.87932	D	0	-14.7091	20.0804	0.97772	0.0:0.0:1.0:0.0	.	135	Q86UR5	RIMS1_HUMAN	F	135	ENSP00000430101:C135F;ENSP00000275037:C135F;ENSP00000264839:C135F;ENSP00000429959:C135F;ENSP00000430408:C135F;ENSP00000430502:C135F;ENSP00000430932:C135F;ENSP00000428417:C135F	ENSP00000264839:C135F	C	+	2	0	RIMS1	72863531	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.843000	0.99491	2.738000	0.93877	0.655000	0.94253	TGT		PASS	0.517	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			9	42	9	42	---	---	---	---
SLC17A5	26503	broad.mit.edu	37	6	74304842	74304842	+	Silent	SNP	T	T	C			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr6:74304842T>C	ENST00000355773.5	-	11	1714	c.1446A>G	c.(1444-1446)gtA>gtG	p.V482V		NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	482					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)	p.V482V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCCAGTTTTGTACTTCACCTT	0.368																																						uc003phn.3																			1	Substitution - coding silent(1)		lung(1)	skin(5)|central_nervous_system(1)	6						c.(1444-1446)GTA>GTG		sialin							179.0	173.0	175.0					6																	74304842		2203	4300	6503	SO:0001819	synonymous_variant	26503				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	g.chr6:74304842T>C	AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"""Solute carriers"""	10933	protein-coding gene	gene with protein product		604322	"""sialic acid storage disease"", ""solute carrier family 17 (anion/sugar transporter), member 5"""	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.1446A>G	6.37:g.74304842T>C						SLC17A5_uc010kax.2_Silent_p.V141V|SLC17A5_uc010kay.2_RNA	p.V482V	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN			11	1574	-			482					Q5SZ76|Q8NBR5|Q9UGH0	Silent	SNP	ENST00000355773.5	37	c.1446A>G	CCDS4981.1																																																																																				PASS	0.368	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			19	97	19	97	---	---	---	---
FIG4	9896	broad.mit.edu	37	6	110107533	110107533	+	Missense_Mutation	SNP	G	G	C			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr6:110107533G>C	ENST00000230124.3	+	18	2101	c.1977G>C	c.(1975-1977)ttG>ttC	p.L659F	FIG4_ENST00000441478.2_Missense_Mutation_p.L382F	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	659					cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)	p.L659F(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TAAAGAAGTTGATAGTGAAGA	0.348																																						uc003ptt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1975-1977)TTG>TTC		Sac domain-containing inositol phosphatase 3							110.0	110.0	110.0					6																	110107533		2203	4299	6502	SO:0001583	missense	9896				cell death	endosome membrane	protein binding	g.chr6:110107533G>C	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"""KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"""	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.1977G>C	6.37:g.110107533G>C	ENSP00000230124:p.Leu659Phe					FIG4_uc011eau.1_Missense_Mutation_p.L382F	p.L659F	NM_014845	NP_055660	Q92562	FIG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)	18	2192	+		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)	659					Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	37	c.1977G>C	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405280	0.62288	.	.	ENSG00000112367	ENST00000441478;ENST00000230124	T;T	0.53857	1.84;0.6	5.71	1.91	0.25777	.	0.150127	0.45867	N	0.000321	T	0.16769	0.0403	N	0.19112	0.55	0.44685	D	0.997673	B;P	0.36959	0.023;0.575	B;B	0.34301	0.012;0.179	T	0.04191	-1.0970	10	0.51188	T	0.08	-15.842	6.9867	0.24733	0.3132:0.1134:0.5734:0.0	.	382;659	F5H8L9;Q92562	.;FIG4_HUMAN	F	382;659	ENSP00000399443:L382F;ENSP00000230124:L659F	ENSP00000230124:L659F	L	+	3	2	FIG4	110214226	1.000000	0.71417	0.340000	0.25575	0.994000	0.84299	1.293000	0.33353	0.136000	0.18733	0.650000	0.86243	TTG		PASS	0.348	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845		4	72	4	72	---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117715339	117715339	+	Missense_Mutation	SNP	T	T	A			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr6:117715339T>A	ENST00000368508.3	-	10	1348	c.1150A>T	c.(1150-1152)Atc>Ttc	p.I384F	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.I393F	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	384					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.I384F(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCATCCATGATGAAATACATT	0.338			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(1150-1152)ATC>TTC		proto-oncogene c-ros-1 protein precursor							49.0	51.0	50.0					6																	117715339		2202	4299	6501	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117715339T>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1150A>T	6.37:g.117715339T>A	ENSP00000357494:p.Ile384Phe					ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.I384F	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	10	1349	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	384			Extracellular (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.1150A>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	T	19.23	3.786865	0.70337	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.91295	-2.82;-2.82	5.12	5.12	0.69794	.	0.087727	0.49305	D	0.000146	D	0.89203	0.6648	L	0.51422	1.61	0.80722	D	1	D	0.69078	0.997	P	0.60789	0.879	D	0.90179	0.4241	10	0.62326	D	0.03	.	6.4935	0.22130	0.0:0.175:0.0:0.825	.	384	P08922	ROS1_HUMAN	F	384;393	ENSP00000357494:I384F;ENSP00000357493:I393F	ENSP00000357493:I393F	I	-	1	0	ROS1	117822032	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.218000	0.51192	2.237000	0.73441	0.528000	0.53228	ATC		PASS	0.338	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			4	44	4	44	---	---	---	---
NKAIN2	154215	broad.mit.edu	37	6	124604183	124604183	+	Missense_Mutation	SNP	C	C	A			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr6:124604183C>A	ENST00000368417.1	+	2	147	c.87C>A	c.(85-87)ttC>ttA	p.F29L	NKAIN2_ENST00000368416.1_Missense_Mutation_p.F29L|NKAIN2_ENST00000545433.1_Missense_Mutation_p.F14L|NKAIN2_ENST00000476571.1_3'UTR|NKAIN2_ENST00000546092.1_Missense_Mutation_p.F29L	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F29L(1)		cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		TATTTGACTTCCTTGGATATC	0.393																																						uc003pzo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(85-87)TTC>TTA		T-cell lymphoma breakpoint-associated target 1							231.0	214.0	220.0					6																	124604183		2203	4300	6503	SO:0001583	missense	154215					integral to membrane|plasma membrane		g.chr6:124604183C>A	AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"""Na+/K+ transporting ATPase interacting"""	16443	protein-coding gene	gene with protein product		609758	"""T-cell lymphoma breakpoint associated target 1"""	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.87C>A	6.37:g.124604183C>A	ENSP00000357402:p.Phe29Leu					NKAIN2_uc003pzn.1_Missense_Mutation_p.F29L|NKAIN2_uc003pzp.2_Missense_Mutation_p.F28L|NKAIN2_uc010keq.2_Missense_Mutation_p.F29L|NKAIN2_uc010ker.2_5'UTR|NKAIN2_uc010kep.1_RNA	p.F29L	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN		GBM - Glioblastoma multiforme(226;0.104)	2	364	+			29					Q8IYR4|Q8TF67	Missense_Mutation	SNP	ENST00000368417.1	37	c.87C>A	CCDS34526.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.304850	0.81247	.	.	ENSG00000188580	ENST00000368416;ENST00000368417;ENST00000546092;ENST00000539866;ENST00000545433	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.7	4.84	0.62591	.	0.174877	0.51477	N	0.000086	T	0.30479	0.0766	M	0.83603	2.65	0.53688	D	0.99997	B;B;B;D	0.71674	0.033;0.013;0.017;0.998	B;B;B;D	0.69142	0.014;0.021;0.024;0.962	T	0.13045	-1.0524	10	0.48119	T	0.1	-12.8258	10.7687	0.46310	0.0:0.8556:0.0:0.1444	.	29;28;29;29	F5GY48;Q5VXU1-3;Q5VXU1;Q5VXU1-2	.;.;NKAI2_HUMAN;.	L	29;29;29;28;14	ENSP00000357401:F29L;ENSP00000357402:F29L;ENSP00000440287:F29L;ENSP00000437798:F14L	ENSP00000357401:F29L	F	+	3	2	NKAIN2	124645882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.984000	0.56923	1.421000	0.47157	0.655000	0.94253	TTC		PASS	0.393	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042057.1	NM_001040214		19	108	19	108	---	---	---	---
TAAR8	83551	broad.mit.edu	37	6	132874559	132874559	+	Missense_Mutation	SNP	G	G	T			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr6:132874559G>T	ENST00000275200.1	+	1	728	c.728G>T	c.(727-729)aGt>aTt	p.S243I		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	243					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.S243I(1)		endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TCCTCAGAGAGTTATAAAATC	0.353																																						uc011ecj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(727-729)AGT>ATT		trace amine associated receptor 8							94.0	99.0	98.0					6																	132874559		2203	4300	6503	SO:0001583	missense	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132874559G>T	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.728G>T	6.37:g.132874559G>T	ENSP00000275200:p.Ser243Ile						p.S243I	NM_053278	NP_444508	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	728	+	Breast(56;0.112)		243			Cytoplasmic (Potential).		Q5VUQ0	Missense_Mutation	SNP	ENST00000275200.1	37	c.728G>T	CCDS5154.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768980	0.31320	.	.	ENSG00000146385	ENST00000275200	T	0.73789	-0.78	4.72	0.608	0.17569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000096	T	0.66446	0.2790	M	0.86028	2.79	0.09310	N	1	B	0.28760	0.221	B	0.32762	0.152	T	0.66716	-0.5853	10	0.66056	D	0.02	-7.6868	16.6873	0.85312	0.0:0.6896:0.3104:0.0	.	243	Q969N4	TAAR8_HUMAN	I	243	ENSP00000275200:S243I	ENSP00000275200:S243I	S	+	2	0	TAAR8	132916252	0.000000	0.05858	0.001000	0.08648	0.500000	0.33767	-0.002000	0.12924	-0.009000	0.14296	0.655000	0.94253	AGT		PASS	0.353	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		9	48	9	48	---	---	---	---
TAAR6	319100	broad.mit.edu	37	6	132892023	132892023	+	Missense_Mutation	SNP	G	G	C			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr6:132892023G>C	ENST00000275198.1	+	1	563	c.563G>C	c.(562-564)gGa>gCa	p.G188A		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	188					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.G188A(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		AACTGTATAGGAGGTTGTCAG	0.418																																						uc011eck.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(562-564)GGA>GCA		trace amine associated receptor 6							155.0	156.0	155.0					6																	132892023		2203	4300	6503	SO:0001583	missense	319100					plasma membrane	G-protein coupled receptor activity	g.chr6:132892023G>C	AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"""GPCR / Class A : Trace amine associated receptors"""	20978	protein-coding gene	gene with protein product		608923	"""trace amine receptor 4"""	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.563G>C	6.37:g.132892023G>C	ENSP00000275198:p.Gly188Ala						p.G188A	NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)	1	563	+	Breast(56;0.112)		188			Extracellular (Potential).		Q5VUQ4	Missense_Mutation	SNP	ENST00000275198.1	37	c.563G>C	CCDS5155.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012984	0.35511	.	.	ENSG00000146383	ENST00000275198;ENST00000539228	T	0.36520	1.25	5.11	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000084	T	0.52386	0.1731	M	0.86420	2.815	0.36847	D	0.88769	D	0.56521	0.976	P	0.62298	0.9	T	0.65121	-0.6245	10	0.66056	D	0.02	-7.8091	13.9829	0.64315	0.0733:0.0:0.9267:0.0	.	188	Q96RI8	TAAR6_HUMAN	A	188;171	ENSP00000275198:G188A	ENSP00000275198:G188A	G	+	2	0	TAAR6	132933716	1.000000	0.71417	0.120000	0.21714	0.333000	0.28666	4.262000	0.58847	1.368000	0.46115	0.650000	0.86243	GGA		PASS	0.418	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067		20	96	20	96	---	---	---	---
SLC22A1	6580	broad.mit.edu	37	6	160560878	160560878	+	Missense_Mutation	SNP	G	G	T	rs200915918	byFrequency	TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr6:160560878G>T	ENST00000366963.4	+	7	1402	c.1255G>T	c.(1255-1257)Gtc>Ttc	p.V419F	SLC22A1_ENST00000457470.2_Missense_Mutation_p.V419F|SLC22A1_ENST00000324965.4_Missense_Mutation_p.V419F	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	419					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|epinephrine transport (GO:0048241)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|norepinephrine transport (GO:0015874)|organic cation transport (GO:0015695)|protein homooligomerization (GO:0051260)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)|dopamine transmembrane transporter activity (GO:0005329)|norepinephrine transmembrane transporter activity (GO:0005333)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)	p.V419F(1)	SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	Acebutolol(DB01193)|Acepromazine(DB01614)|Aciclovir(DB00787)|Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Caspofungin(DB00520)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Choline(DB00122)|Cimetidine(DB00501)|Cladribine(DB00242)|Clonidine(DB00575)|Codeine(DB00318)|Cytarabine(DB00987)|Desipramine(DB01151)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Estropipate(DB04574)|Ganciclovir(DB01004)|Gentian Violet(DB00406)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Lamivudine(DB00709)|Latanoprost(DB00654)|Metformin(DB00331)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rocuronium(DB00728)|Saquinavir(DB01232)|Spermine(DB00127)|Testosterone(DB00624)|Thiamine(DB00152)|Thioproperazine(DB01622)|Thiothixene(DB01623)|Tubocurarine(DB01199)|Vecuronium(DB01339)|Verapamil(DB00661)	AGCCTGCCTCGTCATGATTTT	0.517																																						uc003qtc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1255-1257)GTC>TTC		solute carrier family 22 member 1 isoform a							62.0	59.0	60.0					6																	160560878		2203	4300	6503	SO:0001583	missense	6580					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding	g.chr6:160560878G>T	U77086	CCDS5274.1, CCDS5275.1	6q25.3	2013-05-22			ENSG00000175003	ENSG00000175003		"""Solute carriers"""	10963	protein-coding gene	gene with protein product		602607				9605850	Standard	NM_003057		Approved	OCT1	uc003qtc.3	O15245	OTTHUMG00000015947	ENST00000366963.4:c.1255G>T	6.37:g.160560878G>T	ENSP00000355930:p.Val419Phe					SLC22A1_uc003qtd.2_Missense_Mutation_p.V419F	p.V419F	NM_003057	NP_003048	O15245	S22A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	7	1360	+		Breast(66;0.000776)|Ovarian(120;0.00556)	419			Helical; (Potential).		A6NFF3|A8K1H2|C9JSU6|O15395|Q9NQD4	Missense_Mutation	SNP	ENST00000366963.4	37	c.1255G>T	CCDS5274.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.730460	0.30684	.	.	ENSG00000175003	ENST00000366963;ENST00000324965;ENST00000457470	T;T;T	0.73681	-0.77;0.23;0.23	5.08	-10.2	0.00374	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.894418	0.09685	N	0.769215	T	0.33731	0.0873	L	0.37800	1.135	0.09310	N	0.999999	B;B	0.19935	0.04;0.013	B;B	0.27076	0.076;0.041	T	0.20472	-1.0274	10	0.48119	T	0.1	.	4.775	0.13175	0.5321:0.221:0.1612:0.0857	.	419;419	O15245-2;O15245	.;S22A1_HUMAN	F	419	ENSP00000355930:V419F;ENSP00000318103:V419F;ENSP00000409557:V419F	ENSP00000318103:V419F	V	+	1	0	SLC22A1	160480868	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-0.695000	0.05109	-2.737000	0.00381	-1.199000	0.01669	GTC		PASS	0.517	SLC22A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042938.2			3	23	3	23	---	---	---	---
RSPH10B	222967	broad.mit.edu	37	7	5967999	5967999	+	Silent	SNP	G	G	T			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr7:5967999G>T	ENST00000405415.1	-	19	2646	c.2260C>A	c.(2260-2262)Cga>Aga	p.R754R	RSPH10B_ENST00000337579.3_Silent_p.R754R|RSPH10B_ENST00000404406.1_Silent_p.R754R|RSPH10B_ENST00000535104.1_5'UTR|RSPH10B_ENST00000441023.2_Silent_p.R754R|RSPH10B_ENST00000539903.1_3'UTR			P0C881	R10B1_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	754								p.R754R(1)		breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		TCTTCCTCTCGATCATCCTTG	0.418																																						uc003sph.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(2260-2262)CGA>AGA		radial spoke head 10 homolog B							249.0	238.0	242.0					7																	5967999		2203	4300	6503	SO:0001819	synonymous_variant	728194							g.chr7:5967999G>T		CCDS34598.1	7p22.2	2008-07-04			ENSG00000155026	ENSG00000155026			27362	protein-coding gene	gene with protein product						16507594	Standard	NM_173565		Approved		uc003sph.1	P0C881	OTTHUMG00000152378	ENST00000405415.1:c.2260C>A	7.37:g.5967999G>T						RSPH10B2_uc003spg.1_Silent_p.R601R|RSPH10B2_uc010ktd.1_Silent_p.R754R|RSPH10B2_uc011jwk.1_Silent_p.I375I	p.R754R	NM_173565	NP_775836	B2RC85	R10B2_HUMAN			20	2531	-			754					A6NMW7|Q86ST9|Q8NE68	Silent	SNP	ENST00000405415.1	37	c.2260C>A	CCDS34598.1																																																																																				PASS	0.418	RSPH10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325465.2	NM_173565		23	104	23	104	---	---	---	---
HOXA4	3201	broad.mit.edu	37	7	27169030	27169030	+	Silent	SNP	G	G	C			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr7:27169030G>C	ENST00000360046.5	-	2	842	c.777C>G	c.(775-777)gtC>gtG	p.V259V	HOXA4_ENST00000428284.2_Silent_p.V259V|HOXA-AS2_ENST00000521159.1_RNA|HOXA3_ENST00000317201.2_5'Flank|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS2_ENST00000517550.1_RNA|HOXA3_ENST00000521401.1_Intron|HOXA-AS2_ENST00000521687.1_RNA|HOXA-AS3_ENST00000518848.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	259					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V259V(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						ACCAGATCTTGACCTGGCGCT	0.577																																						uc003sym.3																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(775-777)GTC>GTG		homeobox A4							229.0	189.0	202.0					7																	27169030		2203	4300	6503	SO:0001819	synonymous_variant	3201					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27169030G>C		CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"""Homeoboxes / ANTP class : HOXL subclass"""	5105	protein-coding gene	gene with protein product		142953	"""homeo box A4"""	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.777C>G	7.37:g.27169030G>C						HOXA3_uc003syk.2_5'Flank	p.V259V	NM_002141	NP_002132	Q00056	HXA4_HUMAN			2	824	-			259			Homeobox.		A4D180|O43366	Silent	SNP	ENST00000360046.5	37	c.777C>G	CCDS5405.1	.	.	.	.	.	.	.	.	.	.	G	6.076	0.382282	0.11524	.	.	ENSG00000197576	ENST00000511914	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	T	0.71358	0.3330	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70226	-0.4930	4	.	.	.	.	15.3611	0.74475	0.0:0.1398:0.8602:0.0	.	.	.	.	E	79	.	.	Q	-	1	0	HOXA4	27135555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.024000	0.49674	2.485000	0.83878	0.555000	0.69702	CAA		PASS	0.577	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059534.4			4	81	4	81	---	---	---	---
HOXA4	3201	broad.mit.edu	37	7	27169744	27169744	+	Silent	SNP	G	G	A			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr7:27169744G>A	ENST00000360046.5	-	1	674	c.609C>T	c.(607-609)gtC>gtT	p.V203V	HOXA4_ENST00000428284.2_Silent_p.V203V|HOXA-AS2_ENST00000521159.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS2_ENST00000517550.1_RNA|HOXA3_ENST00000521401.1_Intron|HOXA-AS2_ENST00000521687.1_RNA|HOXA-AS3_ENST00000518848.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	203					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V203V(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						TACCGGCGCTGACATGGATCT	0.716																																						uc003sym.3																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(607-609)GTC>GTT		homeobox A4							8.0	9.0	9.0					7																	27169744		2105	4096	6201	SO:0001819	synonymous_variant	3201					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27169744G>A		CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"""Homeoboxes / ANTP class : HOXL subclass"""	5105	protein-coding gene	gene with protein product		142953	"""homeo box A4"""	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.609C>T	7.37:g.27169744G>A							p.V203V	NM_002141	NP_002132	Q00056	HXA4_HUMAN			1	656	-			203					A4D180|O43366	Silent	SNP	ENST00000360046.5	37	c.609C>T	CCDS5405.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559397	0.86335	.	.	ENSG00000197576	ENST00000552601;ENST00000511914	.	.	.	4.97	4.06	0.47325	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4795	0.67570	0.0:0.3675:0.6325:0.0	.	.	.	.	X	57;23	.	.	Q	-	1	0	HOXA4	27136269	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.010000	0.29898	1.070000	0.40811	0.456000	0.33151	CAG		PASS	0.716	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059534.4			3	15	3	15	---	---	---	---
HGF	3082	broad.mit.edu	37	7	81386571	81386571	+	Missense_Mutation	SNP	G	G	T			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr7:81386571G>T	ENST00000222390.5	-	4	642	c.416C>A	c.(415-417)aCa>aAa	p.T139K	HGF_ENST00000453411.1_Missense_Mutation_p.T139K|HGF_ENST00000423064.2_Missense_Mutation_p.T139K|HGF_ENST00000453018.1_Missense_Mutation_p.T36K|HGF_ENST00000457544.2_Missense_Mutation_p.T139K|HGF_ENST00000354224.6_Missense_Mutation_p.T139K|HGF_ENST00000444829.2_Missense_Mutation_p.T139K	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	139	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.T139K(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GATAGATACTGTTCCCTTGTA	0.388																																						uc003uhl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(415-417)ACA>AAA		hepatocyte growth factor isoform 1							188.0	169.0	176.0					7																	81386571		2203	4300	6503	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81386571G>T		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.416C>A	7.37:g.81386571G>T	ENSP00000222390:p.Thr139Lys					HGF_uc003uhm.2_Missense_Mutation_p.T139K|HGF_uc003uhn.1_Missense_Mutation_p.T139K|HGF_uc003uho.1_Missense_Mutation_p.T139K|HGF_uc003uhp.2_Missense_Mutation_p.T139K	p.T139K	NM_000601	NP_000592	P14210	HGF_HUMAN			4	581	-			139			Kringle 1.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.416C>A	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640245	0.47153	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064;ENST00000354224;ENST00000453018;ENST00000412881	T;T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;1.34	5.06	5.06	0.68205	Kringle (5);Kringle-like fold (1);	0.183587	0.44688	D	0.000429	T	0.71333	0.3327	L	0.39566	1.225	0.45962	D	0.998787	D;P;B;D;D	0.89917	1.0;0.731;0.227;0.999;0.999	D;B;B;D;D	0.87578	0.998;0.16;0.028;0.994;0.995	T	0.65582	-0.6133	10	0.17832	T	0.49	.	18.4119	0.90554	0.0:0.0:1.0:0.0	.	174;139;139;139;139	Q59H59;P14210-5;P14210-2;P14210-3;P14210	.;.;.;.;HGF_HUMAN	K	139;139;139;139;139;139;139;36;139	ENSP00000222390:T139K;ENSP00000391238:T139K;ENSP00000389854:T139K;ENSP00000408270:T139K;ENSP00000413829:T139K;ENSP00000346164:T139K;ENSP00000395468:T36K;ENSP00000396307:T139K	ENSP00000222390:T139K	T	-	2	0	HGF	81224507	0.999000	0.42202	0.828000	0.32881	0.950000	0.60333	3.199000	0.51043	2.346000	0.79739	0.655000	0.94253	ACA		PASS	0.388	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		4	56	4	56	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82474630	82474630	+	Missense_Mutation	SNP	G	G	A	rs377347584		TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr7:82474630G>A	ENST00000333891.9	-	13	14340	c.14003C>T	c.(14002-14004)cCa>cTa	p.P4668L	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000423517.2_Missense_Mutation_p.P4668L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.P4668L(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGGGACCCTGGTTGCCCAGG	0.502																																						uc003uhx.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)	7						c.(14002-14004)CCA>CTA		piccolo isoform 1		G	LEU/PRO,LEU/PRO	0,4016		0,0,2008	59.0	60.0	60.0		14003,14003	5.5	1.0	7		60	1,8343		0,1,4171	no	missense,missense	PCLO	NM_014510.2,NM_033026.5	98,98	0,1,6179	AA,AG,GG		0.012,0.0,0.0081	probably-damaging,probably-damaging	4668/4936,4668/5143	82474630	1,12359	2008	4172	6180	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82474630G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.14003C>T	7.37:g.82474630G>A	ENSP00000334319:p.Pro4668Leu					PCLO_uc003uhv.2_Missense_Mutation_p.P4668L|PCLO_uc003uht.1_Missense_Mutation_p.P119L|PCLO_uc003uhu.1_Missense_Mutation_p.P98L	p.P4668L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			13	14292	-			4556						Missense_Mutation	SNP	ENST00000333891.9	37	c.14003C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.358350	0.61403	0.0	1.2E-4	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.18810	2.2;2.19	5.53	5.53	0.82687	.	.	.	.	.	T	0.46444	0.1393	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.986;0.986;0.999;0.997	T	0.34800	-0.9814	9	0.87932	D	0	.	19.827	0.96621	0.0:0.0:1.0:0.0	.	4668;4668;98;165	Q9Y6V0-5;Q9Y6V0-6;Q9Y6V0-3;Q32P40	.;.;.;.	L	4668;4668;164	ENSP00000334319:P4668L;ENSP00000388393:P4668L	ENSP00000334319:P4668L	P	-	2	0	PCLO	82312566	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.110000	0.94302	2.759000	0.94783	0.561000	0.74099	CCA		PASS	0.502	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		3	30	3	30	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88963284	88963284	+	Missense_Mutation	SNP	C	C	T			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr7:88963284C>T	ENST00000333190.4	+	4	1597	c.988C>T	c.(988-990)Cat>Tat	p.H330Y		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	330							metal ion binding (GO:0046872)	p.H330Y(1)|p.H330D(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)			ATCTAACATTCATCTTTCAGA	0.338										HNSCC(36;0.09)																												uc011khi.1																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(988-990)CAT>TAT		zinc finger protein 804B							36.0	38.0	38.0					7																	88963284		2202	4296	6498	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963284C>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.988C>T	7.37:g.88963284C>T	ENSP00000329638:p.His330Tyr	HNSCC(36;0.09)					p.H330Y	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1526	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		330					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.988C>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.956626	0.34565	.	.	ENSG00000182348	ENST00000333190	T	0.05258	3.47	5.14	2.35	0.29111	.	0.435577	0.21823	N	0.068585	T	0.07188	0.0182	L	0.54323	1.7	0.09310	N	1	B	0.15473	0.013	B	0.12156	0.007	T	0.25984	-1.0116	10	0.49607	T	0.09	0.2842	7.685	0.28536	0.1335:0.7265:0.0:0.1401	.	330	A4D1E1	Z804B_HUMAN	Y	330	ENSP00000329638:H330Y	ENSP00000329638:H330Y	H	+	1	0	ZNF804B	88801220	0.007000	0.16637	0.035000	0.18076	0.992000	0.81027	1.592000	0.36676	0.329000	0.23460	0.655000	0.94253	CAT		PASS	0.338	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		5	28	5	28	---	---	---	---
ZNF3	7551	broad.mit.edu	37	7	99669079	99669079	+	Missense_Mutation	SNP	T	T	C			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr7:99669079T>C	ENST00000424697.1	-	6	1334	c.1028A>G	c.(1027-1029)aAt>aGt	p.N343S	ZNF3_ENST00000303915.6_Missense_Mutation_p.N343S|ZNF3_ENST00000299667.4_Missense_Mutation_p.N343S|ZNF3_ENST00000413658.2_Intron	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	343				GEKPYECNECGKAFSQSSHLYQHQRIHTGEKPYECMECGGK FTYSSGLIQHQ -> EALPTFVTLIRLLPSVDPIVTNEAAF PAESLATIFALIWRLFCVHSLMFKKV (in Ref. 2; BAA91019). {ECO:0000305}.	cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)	p.N343S(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			CCCACATTCATTACATTCATA	0.483																																						uc003usq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1027-1029)AAT>AGT		zinc finger protein 3 isoform 2							74.0	80.0	78.0					7																	99669079		2203	4300	6503	SO:0001583	missense	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99669079T>C	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.1028A>G	7.37:g.99669079T>C	ENSP00000415358:p.Asn343Ser					ZNF3_uc003usp.2_Intron|ZNF3_uc003usr.2_Missense_Mutation_p.N343S|ZNF3_uc010lgj.2_Missense_Mutation_p.N307S|ZNF3_uc003uss.2_Missense_Mutation_p.N350S|ZNF3_uc003ust.3_Missense_Mutation_p.N343S	p.N343S	NM_032924	NP_116313	P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		6	1335	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	343	GEKPYECNECGKAFSQSSHLYQHQRIHTGEKPYECMECGGK FTYSSGLIQHQ -> EALPTFVTLIRLLPSVDPIVTNEAAF PAESLATIFALIWRLFCVHSLMFKKV (in Ref. 2; BAA91019).		C2H2-type 6.		D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	c.1028A>G	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	T	10.55	1.382175	0.24944	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667	T;T;T	0.16324	2.35;2.35;2.35	4.75	3.59	0.41128	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.220504	0.32041	N	0.006666	T	0.07458	0.0188	N	0.08118	0	0.26418	N	0.976155	P;B	0.39576	0.679;0.234	B;B	0.38755	0.281;0.159	T	0.16689	-1.0394	10	0.27785	T	0.31	-22.5294	4.9057	0.13797	0.0:0.0969:0.1884:0.7147	.	326;343	B3KRP4;P17036	.;ZNF3_HUMAN	S	343	ENSP00000415358:N343S;ENSP00000306372:N343S;ENSP00000299667:N343S	ENSP00000299667:N343S	N	-	2	0	ZNF3	99507015	0.000000	0.05858	0.989000	0.46669	0.995000	0.86356	-1.070000	0.03440	0.967000	0.38186	0.533000	0.62120	AAT		PASS	0.483	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		8	44	8	44	---	---	---	---
TRIP6	7205	broad.mit.edu	37	7	100469219	100469219	+	Missense_Mutation	SNP	C	C	T			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr7:100469219C>T	ENST00000200457.4	+	7	1414	c.1054C>T	c.(1054-1056)Cgg>Tgg	p.R352W		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	352	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)	p.R352W(2)		breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCGGATCCTGCGGGCTATGGG	0.642																																						uc003uww.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	central_nervous_system(2)	2						c.(1054-1056)CGG>TGG		thyroid receptor-interacting protein 6							90.0	69.0	76.0					7																	100469219		2203	4300	6503	SO:0001583	missense	7205				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding	g.chr7:100469219C>T	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.1054C>T	7.37:g.100469219C>T	ENSP00000200457:p.Arg352Trp						p.R352W	NM_003302	NP_003293	Q15654	TRIP6_HUMAN			7	1224	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		352			LIM zinc-binding 2.		A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Missense_Mutation	SNP	ENST00000200457.4	37	c.1054C>T	CCDS5708.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731176	0.69189	.	.	ENSG00000087077	ENST00000200457	D	0.88664	-2.41	4.43	3.51	0.40186	Zinc finger, LIM-type (5);	0.000000	0.64402	D	0.000001	D	0.95255	0.8461	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94641	0.7830	10	0.87932	D	0	.	9.4426	0.38677	0.385:0.615:0.0:0.0	.	352	Q15654	TRIP6_HUMAN	W	352	ENSP00000200457:R352W	ENSP00000200457:R352W	R	+	1	2	TRIP6	100307155	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	1.502000	0.35704	0.785000	0.33685	0.650000	0.86243	CGG		PASS	0.642	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	NM_003302		3	58	3	58	---	---	---	---
COG5	10466	broad.mit.edu	37	7	107198509	107198509	+	Missense_Mutation	SNP	G	G	C			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr7:107198509G>C	ENST00000347053.3	-	2	289	c.239C>G	c.(238-240)tCt>tGt	p.S80C	COG5_ENST00000393603.2_Missense_Mutation_p.S80C|COG5_ENST00000297135.3_Missense_Mutation_p.S80C	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	80					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.S80C(1)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						AATAGATTGAGAAGTATAAGT	0.358																																						uc003ved.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(2)	4						c.(238-240)TCT>TGT		component of oligomeric golgi complex 5 isoform							94.0	85.0	88.0					7																	107198509		2203	4300	6503	SO:0001583	missense	10466				intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	g.chr7:107198509G>C	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.239C>G	7.37:g.107198509G>C	ENSP00000334703:p.Ser80Cys					COG5_uc003vec.2_Missense_Mutation_p.S80C|COG5_uc003vee.2_Missense_Mutation_p.S80C	p.S80C	NM_181733	NP_859422	Q9UP83	COG5_HUMAN			2	764	-			80					A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	c.239C>G	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648190	0.67358	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.23754	1.91;1.89;1.91	5.49	5.49	0.81192	.	0.061162	0.64402	D	0.000002	T	0.33731	0.0873	M	0.68317	2.08	0.58432	D	0.999997	B;B	0.30146	0.27;0.228	B;B	0.31016	0.123;0.075	T	0.14504	-1.0470	10	0.62326	D	0.03	-9.7704	18.9874	0.92777	0.0:0.0:1.0:0.0	.	80;80	Q9UP83;Q9UP83-2	COG5_HUMAN;.	C	80	ENSP00000334703:S80C;ENSP00000297135:S80C;ENSP00000377228:S80C	ENSP00000297135:S80C	S	-	2	0	COG5	106985745	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.415000	0.97375	2.586000	0.87340	0.561000	0.74099	TCT		PASS	0.358	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			7	32	7	32	---	---	---	---
ZNF398	57541	broad.mit.edu	37	7	148863259	148863259	+	Missense_Mutation	SNP	G	G	T	rs372485239		TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr7:148863259G>T	ENST00000475153.1	+	3	697	c.430G>T	c.(430-432)Gca>Tca	p.A144S	ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.A149S|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000483892.1_5'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	144	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A144S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			GGTGCCTGTGGCATTTGATGA	0.348																																						uc003wfl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(430-432)GCA>TCA		zinc finger 398 isoform a							105.0	104.0	104.0					7																	148863259		2203	4300	6503	SO:0001583	missense	57541				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148863259G>T	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.430G>T	7.37:g.148863259G>T	ENSP00000420418:p.Ala144Ser					ZNF398_uc011kul.1_5'UTR|ZNF398_uc011kum.1_Missense_Mutation_p.A149S	p.A144S	NM_170686	NP_733787	Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)		3	705	+	Melanoma(164;0.15)		144			KRAB.		A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	ENST00000475153.1	37	c.430G>T	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599467	0.46318	.	.	ENSG00000197024	ENST00000475153;ENST00000540950	T;T	0.01560	4.77;4.77	4.91	2.75	0.32379	Krueppel-associated box (4);	0.356137	0.20408	N	0.092906	T	0.01029	0.0034	N	0.03050	-0.425	0.80722	D	1	B;B	0.22851	0.076;0.027	B;B	0.29942	0.077;0.109	T	0.60782	-0.7195	10	0.39692	T	0.17	-0.3168	5.4764	0.16697	0.6226:0.0:0.3774:0.0	.	149;144	B4DXA9;Q8TD17	.;ZN398_HUMAN	S	144;149	ENSP00000420418:A144S;ENSP00000439340:A149S	ENSP00000420418:A144S	A	+	1	0	ZNF398	148494192	0.514000	0.26202	1.000000	0.80357	0.994000	0.84299	0.540000	0.23191	0.355000	0.24131	0.467000	0.42956	GCA		PASS	0.348	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			16	63	16	63	---	---	---	---
NOM1	64434	broad.mit.edu	37	7	156743221	156743221	+	Nonsense_Mutation	SNP	G	G	T			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr7:156743221G>T	ENST00000275820.3	+	1	805	c.790G>T	c.(790-792)Gag>Tag	p.E264*		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	264	Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E264*(1)		endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ggaggaggaggagggagacgt	0.542																																						uc003wmy.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(790-792)GAG>TAG		nucleolar protein with MIF4G domain 1							64.0	45.0	52.0					7																	156743221		2203	4300	6503	SO:0001587	stop_gained	64434				RNA metabolic process	nucleolus	protein binding	g.chr7:156743221G>T	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.790G>T	7.37:g.156743221G>T	ENSP00000275820:p.Glu264*						p.E264*	NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	1	805	+	Ovarian(565;0.218)	all_hematologic(28;0.0749)	264			Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.		Q96I08	Nonsense_Mutation	SNP	ENST00000275820.3	37	c.790G>T	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	g	23.4	4.415979	0.83449	.	.	ENSG00000146909	ENST00000275820	.	.	.	3.07	-6.13	0.02118	.	2.984370	0.01388	N	0.013164	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	0.0073	0.6147	0.00767	0.2234:0.2315:0.3083:0.2368	.	.	.	.	X	264	.	ENSP00000275820:E264X	E	+	1	0	NOM1	156435982	0.449000	0.25689	0.000000	0.03702	0.144000	0.21451	2.781000	0.47750	-1.733000	0.01357	-0.220000	0.12472	GAG		PASS	0.542	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		4	20	4	20	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35544208	35544208	+	Silent	SNP	A	A	G			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr8:35544208A>G	ENST00000404895.2	+	7	1393	c.1065A>G	c.(1063-1065)acA>acG	p.T355T	UNC5D_ENST00000420357.1_Silent_p.T299T|UNC5D_ENST00000287272.2_Silent_p.T299T|UNC5D_ENST00000416672.1_Silent_p.T355T|UNC5D_ENST00000453357.2_Silent_p.T350T	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	355	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.T350T(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		aaaactgcacagatggtcttt	0.438																																						uc003xjr.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(1063-1065)ACA>ACG		unc-5 homolog D precursor							98.0	80.0	86.0					8																	35544208		2203	4300	6503	SO:0001819	synonymous_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35544208A>G	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1065A>G	8.37:g.35544208A>G						UNC5D_uc003xjs.1_Silent_p.T350T|UNC5D_uc003xjt.1_Silent_p.T124T	p.T355T	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	7	1393	+			355			Extracellular (Potential).|TSP type-1 2.		Q8WYP7	Silent	SNP	ENST00000404895.2	37	c.1065A>G	CCDS6093.2																																																																																				PASS	0.438	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			4	20	4	20	---	---	---	---
OPRK1	4986	broad.mit.edu	37	8	54147415	54147415	+	Missense_Mutation	SNP	G	G	T			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr8:54147415G>T	ENST00000265572.3	-	3	811	c.514C>A	c.(514-516)Ccc>Acc	p.P172T	OPRK1_ENST00000524278.1_Missense_Mutation_p.P83T|OPRK1_ENST00000520287.1_Missense_Mutation_p.P172T|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	172					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)	p.P172T(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	GCCTTCAAGGGTGTGCGGAAG	0.507																																						uc003xrh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(514-516)CCC>ACC		opioid receptor, kappa 1	Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)						119.0	101.0	107.0					8																	54147415		2203	4300	6503	SO:0001583	missense	4986				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	g.chr8:54147415G>T		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.514C>A	8.37:g.54147415G>T	ENSP00000265572:p.Pro172Thr					OPRK1_uc003xri.1_Missense_Mutation_p.P172T|OPRK1_uc010lyc.1_Missense_Mutation_p.P83T	p.P172T	NM_000912	NP_000903	P41145	OPRK_HUMAN			2	889	-		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	172			Cytoplasmic (Potential).		E5RHC9|Q499G4	Missense_Mutation	SNP	ENST00000265572.3	37	c.514C>A	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939941	0.92526	.	.	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	T;T;T	0.73258	-0.73;-0.73;-0.73	5.96	5.96	0.96718	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85195	0.5641	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85502	0.1192	10	0.87932	D	0	.	20.3928	0.98949	0.0:0.0:1.0:0.0	.	172	P41145	OPRK_HUMAN	T	172;83;172;158	ENSP00000265572:P172T;ENSP00000430923:P83T;ENSP00000429706:P172T	ENSP00000265572:P172T	P	-	1	0	OPRK1	54309968	1.000000	0.71417	0.910000	0.35882	0.980000	0.70556	9.711000	0.98735	2.813000	0.96785	0.655000	0.94253	CCC		PASS	0.507	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			18	61	18	61	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77767225	77767225	+	Silent	SNP	T	T	C			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr8:77767225T>C	ENST00000521891.2	+	10	8516	c.8068T>C	c.(8068-8070)Tta>Cta	p.L2690L	ZFHX4_ENST00000455469.2_Silent_p.L2645L|ZFHX4_ENST00000518282.1_Silent_p.L2664L|ZFHX4_ENST00000050961.6_Silent_p.L2645L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2645					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.L2674L(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAGTCGGCCTTAGAAAGCCA	0.552										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(7933-7935)TTA>CTA		zinc finger homeodomain 4							54.0	55.0	55.0					8																	77767225		1953	4138	6091	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767225T>C		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8068T>C	8.37:g.77767225T>C		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.L2690L|ZFHX4_uc003yaw.1_Silent_p.L2645L	p.L2645L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8320	+			2645			C2H2-type 17.		G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.7933T>C	CCDS47878.2																																																																																				PASS	0.552	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		14	49	14	49	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8504320	8504320	+	Missense_Mutation	SNP	C	C	A	rs150553394		TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr9:8504320C>A	ENST00000381196.4	-	20	2306	c.1763G>T	c.(1762-1764)cGc>cTc	p.R588L	PTPRD_ENST00000397617.3_Missense_Mutation_p.R578L|PTPRD_ENST00000540109.1_Missense_Mutation_p.R588L|PTPRD_ENST00000355233.5_Missense_Mutation_p.R588L|PTPRD_ENST00000356435.5_Missense_Mutation_p.R588L|PTPRD_ENST00000397606.3_Missense_Mutation_p.R578L|PTPRD_ENST00000397611.3_Missense_Mutation_p.R585L|PTPRD_ENST00000537002.1_Missense_Mutation_p.R585L|PTPRD_ENST00000360074.4_Missense_Mutation_p.R575L|PTPRD_ENST00000358503.5_Missense_Mutation_p.R575L|PTPRD_ENST00000486161.1_Missense_Mutation_p.R588L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	588	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R588L(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTGAGGGGAGCGTGCAGCCAG	0.458										TSP Lung(15;0.13)																												uc003zkk.2																			4	Substitution - Missense(4)		lung(4)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(1762-1764)CGC>CTC		protein tyrosine phosphatase, receptor type, D							245.0	214.0	225.0					9																	8504320		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8504320C>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1763G>T	9.37:g.8504320C>A	ENSP00000370593:p.Arg588Leu	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.R588L|PTPRD_uc003zkq.2_Missense_Mutation_p.R588L|PTPRD_uc003zkr.2_Missense_Mutation_p.R582L|PTPRD_uc003zks.2_Missense_Mutation_p.R578L|PTPRD_uc003zkl.2_Missense_Mutation_p.R588L|PTPRD_uc003zkm.2_Missense_Mutation_p.R575L|PTPRD_uc003zkn.2_Missense_Mutation_p.R588L|PTPRD_uc003zko.2_Missense_Mutation_p.R585L	p.R588L	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	22	2474	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	588			Fibronectin type-III 3.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.1763G>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.105274	0.37145	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	5.53	5.53	0.82687	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	L	0.52011	1.625	0.58432	D	0.999995	B;P;D;P;B;B;P;P;B	0.55605	0.279;0.673;0.972;0.601;0.001;0.365;0.906;0.942;0.244	B;P;D;B;B;B;P;P;B	0.63488	0.171;0.462;0.915;0.233;0.018;0.221;0.652;0.745;0.22	T	0.63116	-0.6709	9	.	.	.	.	19.4728	0.94969	0.0:1.0:0.0:0.0	.	578;582;588;588;585;585;575;588;588	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	L	588;588;575;575;588;578;585;585;588;588;588;578	ENSP00000370593:R588L;ENSP00000348812:R588L;ENSP00000353187:R575L;ENSP00000351293:R575L;ENSP00000347373:R588L;ENSP00000380741:R578L;ENSP00000380735:R585L;ENSP00000440515:R585L;ENSP00000438164:R588L;ENSP00000417093:R588L;ENSP00000380731:R578L	.	R	-	2	0	PTPRD	8494320	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.599000	0.61076	2.602000	0.87976	0.467000	0.42956	CGC		PASS	0.458	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			9	72	9	72	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32635551	32635551	+	Silent	SNP	C	C	T			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr9:32635551C>T	ENST00000242310.4	-	1	116	c.27G>A	c.(25-27)ctG>ctA	p.L9L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	9					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.L9L(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTGCTGCCCTCAGCAGCAAAT	0.542																																						uc003zrg.1																			1	Substitution - coding silent(1)		lung(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(25-27)CTG>CTA		TBP-associated factor RNA polymerase 1-like							58.0	55.0	56.0					9																	32635551		2203	4300	6503	SO:0001819	synonymous_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32635551C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.27G>A	9.37:g.32635551C>T						uc003zrh.1_Intron	p.L9L	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	117	-			9					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.27G>A	CCDS35003.1																																																																																				PASS	0.542	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			5	41	5	41	---	---	---	---
SPATA31B1P	404770	broad.mit.edu	37	9	84676531	84676531	+	IGR	SNP	A	A	G			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr9:84676531A>G								SPATA31D1 (66360 upstream) : RP11-15B24.5 (211139 downstream)														p.L50P(1)									TCACCTCTGCAGTTGTGAAAG	0.622																																						uc010mpu.1																			1	Substitution - Missense(1)		lung(1)								c.(148-150)CTG>CCG		hypothetical protein LOC404770							104.0	103.0	103.0					9																	84676531		1176	2502	3678	SO:0001628	intergenic_variant	0							g.chr9:84676531A>G																													9.37:g.84676531A>G							p.L50P	NM_001164339	NP_001157811					2	152	-									Missense_Mutation	SNP		37	c.149T>C		.	.	.	.	.	.	.	.	.	.	A	13.35	2.210634	0.39102	.	.	ENSG00000204561	ENST00000376458	.	.	.	1.17	1.17	0.20885	.	.	.	.	.	T	0.64929	0.2643	.	.	.	0.24677	N	0.993381	D	0.89917	1.0	D	0.91635	0.999	T	0.67273	-0.5712	6	0.72032	D	0.01	.	4.6542	0.12610	1.0:0.0:0.0:0.0	.	50	Q5VZV4	FA75B_HUMAN	P	50	.	ENSP00000365641:L50P	L	-	2	0	FAM75B	83866351	0.015000	0.18098	0.015000	0.15790	0.437000	0.31866	0.871000	0.28023	0.823000	0.34589	0.113000	0.15668	CTG	0	PASS	0.622									13	59	13	59	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119976953	119976953	+	Missense_Mutation	SNP	C	C	A			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr9:119976953C>A	ENST00000313400.4	-	3	799	c.699G>T	c.(697-699)tgG>tgT	p.W233C	ASTN2_ENST00000373996.3_Missense_Mutation_p.W233C|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.W233C			O75129	ASTN2_HUMAN	astrotactin 2	233					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.W233C(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GACGCTTCTGCCAACGTCGCT	0.632																																						uc004bjs.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(697-699)TGG>TGT		astrotactin 2 isoform c							50.0	48.0	49.0					9																	119976953		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119976953C>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.699G>T	9.37:g.119976953C>A	ENSP00000314038:p.Trp233Cys					ASTN2_uc004bjr.1_Missense_Mutation_p.W233C|ASTN2_uc004bjt.1_Missense_Mutation_p.W233C	p.W233C	NM_198187	NP_937830	O75129	ASTN2_HUMAN			3	800	-			233			Cytoplasmic (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.699G>T		.	.	.	.	.	.	.	.	.	.	C	16.99	3.273647	0.59649	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000361209	T;T;T	0.31769	1.71;1.7;1.48	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000001	T	0.43322	0.1242	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.974;0.983	T	0.20571	-1.0271	9	.	.	.	-12.6323	19.0397	0.92993	0.0:1.0:0.0:0.0	.	233;233;233	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	C	233	ENSP00000314038:W233C;ENSP00000363108:W233C;ENSP00000354504:W233C	.	W	-	3	0	ASTN2	119016774	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.733000	0.84916	2.599000	0.87857	0.655000	0.94253	TGG		PASS	0.632	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		15	26	15	26	---	---	---	---
C9orf78	51759	broad.mit.edu	37	9	132597006	132597006	+	Missense_Mutation	SNP	C	C	A	rs370957981		TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr9:132597006C>A	ENST00000372447.3	-	2	176	c.123G>T	c.(121-123)agG>agT	p.R41S	USP20_ENST00000315480.4_5'Flank|C9orf78_ENST00000461762.1_5'Flank|USP20_ENST00000372429.3_5'Flank|USP20_ENST00000358355.1_5'Flank	NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	41						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R41S(1)		kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				TGGGCCTCTTCCTCAAGTTCT	0.547																																						uc004byp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(121-123)AGG>AGT		chromosome 9 open reading frame 78							151.0	140.0	144.0					9																	132597006		2203	4300	6503	SO:0001583	missense	51759							g.chr9:132597006C>A	BC017570	CCDS6931.1	9q34.2	2012-03-16			ENSG00000136819	ENSG00000136819			24932	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 59"""					11042152, 12097419	Standard	NM_016520		Approved	HSPC220, HCA59	uc004byp.3	Q9NZ63	OTTHUMG00000020796	ENST00000372447.3:c.123G>T	9.37:g.132597006C>A	ENSP00000361524:p.Arg41Ser					C9orf78_uc004byo.2_5'Flank|C9orf78_uc004byq.1_5'Flank|USP20_uc004bys.2_5'Flank|USP20_uc004byr.2_5'Flank|USP20_uc004byt.1_5'Flank	p.R41S	NM_016520	NP_057604	Q9NZ63	CI078_HUMAN			2	195	-		Ovarian(14;0.00556)	41					B3KPX8|Q8WVU6|Q9NT39	Missense_Mutation	SNP	ENST00000372447.3	37	c.123G>T	CCDS6931.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.476483	0.84640	.	.	ENSG00000136819	ENST00000372447	T	0.70399	-0.48	5.08	1.13	0.20643	.	0.000000	0.85682	D	0.000000	D	0.82706	0.5095	M	0.86740	2.835	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.81784	-0.0774	10	0.56958	D	0.05	.	9.422	0.38557	0.0:0.5589:0.0:0.4411	.	41	Q9NZ63	CI078_HUMAN	S	41	ENSP00000361524:R41S	ENSP00000361524:R41S	R	-	3	2	C9orf78	131636827	0.882000	0.30256	1.000000	0.80357	0.997000	0.91878	-0.138000	0.10374	0.327000	0.23409	0.491000	0.48974	AGG		PASS	0.547	C9orf78-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054625.1	NM_016520		5	86	5	86	---	---	---	---
HNRNPF	3185	broad.mit.edu	37	10	43882166	43882166	+	Silent	SNP	G	G	A	rs375590998		TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr10:43882166G>A	ENST00000544000.1	-	4	1574	c.1167C>T	c.(1165-1167)taC>taT	p.Y389Y	HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000443950.2_Silent_p.Y389Y|HNRNPF_ENST00000357065.4_Silent_p.Y389Y|HNRNPF_ENST00000356053.3_Silent_p.Y389Y|HNRNPF_ENST00000337970.3_Silent_p.Y389Y	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	389					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.Y389Y(4)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						CCAGGCCACTGTAAGTGGCCT	0.537																																						uc009xmh.1																			4	Substitution - coding silent(4)		lung(4)		0						c.(1165-1167)TAC>TAT		heterogeneous nuclear ribonucleoprotein F		G	,,,,,	1,4405	2.1+/-5.4	0,1,2202	59.0	72.0	68.0		1167,1167,1167,1167,1167,1167	-0.4	0.8	10		68	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HNRNPF	NM_001098204.1,NM_001098205.1,NM_001098206.1,NM_001098207.1,NM_001098208.1,NM_004966.3	,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,	389/416,389/416,389/416,389/416,389/416,389/416	43882166	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3185				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:43882166G>A		CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.1167C>T	10.37:g.43882166G>A						HNRNPF_uc001jar.2_Silent_p.Y389Y|HNRNPF_uc001jas.2_Silent_p.Y389Y|HNRNPF_uc001jat.2_Silent_p.Y389Y|HNRNPF_uc001jav.2_Silent_p.Y389Y|HNRNPF_uc001jau.2_Silent_p.Y389Y|uc010qfa.1_5'UTR	p.Y389Y	NM_001098208	NP_001091678	P52597	HNRPF_HUMAN			3	1654	-			389					B3KM84|Q5T0N2|Q96AU2	Silent	SNP	ENST00000544000.1	37	c.1167C>T	CCDS7204.1																																																																																				PASS	0.537	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2			4	111	4	111	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89685281	89685281	+	Nonsense_Mutation	SNP	C	C	G			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr10:89685281C>G	ENST00000371953.3	+	3	1533	c.176C>G	c.(175-177)tCa>tGa	p.S59*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	59	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.S59*(4)|p.Y27fs*1(2)|p.R55fs*2(1)|p.S59L(1)|p.V54fs*29(1)|p.R55_L70>S(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTTTGGATTCAAAGCATAAA	0.254		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		59	Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(6)|Substitution - Nonsense(4)|Complex - deletion inframe(1)|Substitution - Missense(1)	p.?(4)|p.R55fs*1(4)|p.S59*(4)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.S59P(1)|p.R55fs*2(1)|p.S59L(1)|p.V54fs*29(1)|p.R55_L70>S(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(12)|lung(7)|skin(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(3)|urinary_tract(2)|breast(2)|soft_tissue(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CM043772	PTEN	M		c.(175-177)TCA>TGA		phosphatase and tensin homolog							31.0	33.0	33.0					10																	89685281		2182	4276	6458	SO:0001587	stop_gained	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89685281C>G	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.176C>G	10.37:g.89685281C>G	ENSP00000361021:p.Ser59*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.S59*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1207	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	59			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.176C>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	50	16.712762	0.99870	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.4254	19.2989	0.94134	0.0:1.0:0.0:0.0	.	.	.	.	X	59	.	.	S	+	2	0	PTEN	89675261	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.244000	0.78228	2.563000	0.86464	0.655000	0.94253	TCA		PASS	0.254	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		4	16	4	16	---	---	---	---
CYP2C9	1559	broad.mit.edu	37	10	96745806	96745806	+	Missense_Mutation	SNP	T	T	C			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr10:96745806T>C	ENST00000260682.6	+	8	1178	c.1166T>C	c.(1165-1167)aTt>aCt	p.I389T		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	389					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)	p.I389T(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	ACCATATTAATTTCCCTGACT	0.383																																					Ovarian(54;1266 1406 16072 35076)	uc001kka.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(2)	6						c.(1165-1167)ATT>ACT		cytochrome P450, family 2, subfamily C,	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						141.0	129.0	133.0					10																	96745806		2203	4300	6503	SO:0001583	missense	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96745806T>C	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.1166T>C	10.37:g.96745806T>C	ENSP00000260682:p.Ile389Thr					CYP2C9_uc009xut.2_Missense_Mutation_p.I387T	p.I389T	NM_000771	NP_000762	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	8	1191	+		Colorectal(252;0.0902)	389					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	c.1166T>C	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	2.589	-0.295683	0.05532	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.70516	-0.49	3.57	2.59	0.31030	.	0.281663	0.29126	U	0.013069	T	0.41627	0.1167	N	0.02916	-0.46	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25047	-1.0143	10	0.22706	T	0.39	.	8.9441	0.35747	0.0:0.883:0.0:0.117	.	389;389	Q5VX92;P11712	.;CP2C9_HUMAN	T	389	ENSP00000260682:I389T	ENSP00000260682:I389T	I	+	2	0	CYP2C9	96735796	0.001000	0.12720	0.010000	0.14722	0.049000	0.14656	1.393000	0.34497	0.834000	0.34852	-0.675000	0.03792	ATT		PASS	0.383	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		13	64	13	64	---	---	---	---
CYP2C9	1559	broad.mit.edu	37	10	96745813	96745813	+	Silent	SNP	G	G	C			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr10:96745813G>C	ENST00000260682.6	+	8	1185	c.1173G>C	c.(1171-1173)ctG>ctC	p.L391L		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	391					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)	p.L391L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TAATTTCCCTGACTTCTGTGC	0.383																																					Ovarian(54;1266 1406 16072 35076)	uc001kka.3																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(2)	6						c.(1171-1173)CTG>CTC		cytochrome P450, family 2, subfamily C,	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						145.0	133.0	137.0					10																	96745813		2203	4300	6503	SO:0001819	synonymous_variant	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96745813G>C	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.1173G>C	10.37:g.96745813G>C						CYP2C9_uc009xut.2_Silent_p.L389L	p.L391L	NM_000771	NP_000762	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	8	1198	+		Colorectal(252;0.0902)	391					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Silent	SNP	ENST00000260682.6	37	c.1173G>C	CCDS7437.1																																																																																				PASS	0.383	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		14	66	14	66	---	---	---	---
TRPM5	29850	broad.mit.edu	37	11	2435351	2435351	+	Silent	SNP	G	G	T			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr11:2435351G>T	ENST00000155858.6	-	12	1838	c.1830C>A	c.(1828-1830)acC>acA	p.T610T	TRPM5_ENST00000452833.1_Silent_p.T612T|TRPM5_ENST00000528453.1_Silent_p.T610T|TRPM5_ENST00000533060.1_Silent_p.T610T	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5									p.T610T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGTGCAGGCAGGTGGTCTTGC	0.682																																					NSCLC(1;49 61 17205 18850 43201)	uc001lwm.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(1828-1830)ACC>ACA		transient receptor potential cation channel,							47.0	41.0	43.0					11																	2435351		2190	4294	6484	SO:0001819	synonymous_variant	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2435351G>T	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.1830C>A	11.37:g.2435351G>T						TRPM5_uc010qxl.1_Silent_p.T610T|TRPM5_uc009ydn.2_Silent_p.T612T	p.T610T	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	12	1839	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	610			Cytoplasmic (Potential).			Silent	SNP	ENST00000155858.6	37	c.1830C>A	CCDS31340.1																																																																																				PASS	0.682	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		4	1	4	1	---	---	---	---
LDLRAD3	143458	broad.mit.edu	37	11	36248918	36248918	+	Silent	SNP	G	G	A	rs146712517		TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr11:36248918G>A	ENST00000315571.5	+	5	759	c.738G>A	c.(736-738)gcG>gcA	p.A246A	LDLRAD3_ENST00000524419.1_Silent_p.A236A|LDLRAD3_ENST00000529759.1_3'UTR|LDLRAD3_ENST00000528989.1_Silent_p.A197A	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	246					receptor-mediated endocytosis (GO:0006898)|regulation of protein processing (GO:0070613)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.A246A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CCAGCCAGGCGGAGCAGAATG	0.612																																						uc001mwk.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(736-738)GCG>GCA		low density lipoprotein receptor class A domain		G		1,4403	2.1+/-5.4	0,1,2201	82.0	73.0	76.0		738	-7.7	0.4	11	dbSNP_134	76	0,8596		0,0,4298	no	coding-synonymous	LDLRAD3	NM_174902.2		0,1,6499	AA,AG,GG		0.0,0.0227,0.0077		246/346	36248918	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	143458					integral to membrane	receptor activity	g.chr11:36248918G>A	AK075546	CCDS31462.1	11p13	2014-06-05			ENSG00000179241	ENSG00000179241			27046	protein-coding gene	gene with protein product						21795536	Standard	NM_174902		Approved	LRAD3	uc001mwk.1	Q86YD5	OTTHUMG00000166313	ENST00000315571.5:c.738G>A	11.37:g.36248918G>A						LDLRAD3_uc010rey.1_Silent_p.A197A|LDLRAD3_uc010rez.1_Silent_p.A125A|LDLRAD3_uc010rfa.1_Intron	p.A246A	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN			5	775	+	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)	246			Cytoplasmic (Potential).		B7Z1U3|B9EG81|Q8NBJ0	Silent	SNP	ENST00000315571.5	37	c.738G>A	CCDS31462.1																																																																																				PASS	0.612	LDLRAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389085.1	NM_174902		4	70	4	70	---	---	---	---
OR5D18	219438	broad.mit.edu	37	11	55587196	55587196	+	Missense_Mutation	SNP	G	G	T	rs377604728		TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr11:55587196G>T	ENST00000333976.4	+	1	111	c.91G>T	c.(91-93)Gtt>Ttt	p.V31F		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V31F(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ACTCTTCCTGGTTTTTCTGGC	0.458																																						uc010rin.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(91-93)GTT>TTT		olfactory receptor, family 5, subfamily D,		G	PHE/VAL	1,4399		0,1,2199	142.0	133.0	136.0		91	-7.3	0.0	11		136	0,8592		0,0,4296	no	missense	OR5D18	NM_001001952.1	50	0,1,6495	TT,TG,GG		0.0,0.0227,0.0077	benign	31/314	55587196	1,12991	2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587196G>T	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.91G>T	11.37:g.55587196G>T	ENSP00000335025:p.Val31Phe						p.V31F	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	91	+		all_epithelial(135;0.208)	31			Helical; Name=1; (Potential).		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.91G>T	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	14.71	2.616657	0.46736	2.27E-4	0.0	ENSG00000186119	ENST00000333976	T	0.03065	4.06	5.18	-7.34	0.01427	.	1.291300	0.05727	N	0.598924	T	0.04724	0.0128	L	0.46567	1.45	0.09310	N	1	B	0.12630	0.006	B	0.22601	0.04	T	0.45469	-0.9259	10	0.59425	D	0.04	0.0651	12.5148	0.56026	0.2014:0.1117:0.6869:0.0	.	31	Q8NGL1	OR5DI_HUMAN	F	31	ENSP00000335025:V31F	ENSP00000335025:V31F	V	+	1	0	OR5D18	55343772	0.000000	0.05858	0.001000	0.08648	0.882000	0.50991	-3.933000	0.00331	-0.957000	0.03627	-0.375000	0.07067	GTT		PASS	0.458	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		13	83	13	83	---	---	---	---
OR5I1	10798	broad.mit.edu	37	11	55703274	55703274	+	Silent	SNP	G	G	T			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr11:55703274G>T	ENST00000301532.3	-	1	602	c.603C>A	c.(601-603)ctC>ctA	p.L201L		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	201					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L201L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CGTATGTGGAGAGGAGCCACT	0.383																																						uc010ris.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(601-603)CTC>CTA		olfactory receptor, family 5, subfamily I,							42.0	48.0	46.0					11																	55703274		2200	4294	6494	SO:0001819	synonymous_variant	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703274G>T	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.603C>A	11.37:g.55703274G>T							p.L201L	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			1	603	-			201			Helical; Name=5; (Potential).		Q6IEU4	Silent	SNP	ENST00000301532.3	37	c.603C>A	CCDS7949.1																																																																																				PASS	0.383	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		3	12	3	12	---	---	---	---
THRSP	7069	broad.mit.edu	37	11	77775039	77775039	+	Missense_Mutation	SNP	C	C	T	rs147579530		TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr11:77775039C>T	ENST00000281030.2	+	1	133	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron	NM_003251.3	NP_003242.1	Q92748	THRSP_HUMAN	thyroid hormone responsive	38					lipid metabolic process (GO:0006629)|regulation of lipid biosynthetic process (GO:0046890)|regulation of transcription, DNA-templated (GO:0006355)|regulation of triglyceride biosynthetic process (GO:0010866)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.R38W(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			CAGCCTTCTGCGGGACGTGCA	0.607																																						uc001oyx.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(112-114)CGG>TGG		thyroid hormone-responsive protein		C	,,,TRP/ARG	3,4397	6.2+/-15.9	0,3,2197	88.0	84.0	86.0		,,,112	-0.9	0.4	11	dbSNP_134	86	0,8584		0,0,4292	no	intron,intron,intron,missense	THRSP,NDUFC2-KCTD14	NM_001203260.1,NM_001203261.1,NM_001203262.1,NM_003251.3	,,,101	0,3,6489	TT,TC,CC		0.0,0.0682,0.0231	,,,probably-damaging	,,,38/147	77775039	3,12981	2200	4292	6492	SO:0001583	missense	7069				lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus		g.chr11:77775039C>T	Y08409	CCDS8256.1	11q14.1	2012-06-19	2010-06-25		ENSG00000151365	ENSG00000151365			11800	protein-coding gene	gene with protein product	"""SPOT14 homolog (rat)"""	601926	"""thyroid hormone responsive SPOT14 (rat) homolog"", ""lipogenic protein 1"""	LPGP1		9003802	Standard	NM_003251		Approved	SPOT14, Lpgp, S14, THRP	uc001oyx.3	Q92748	OTTHUMG00000166632	ENST00000281030.2:c.112C>T	11.37:g.77775039C>T	ENSP00000281030:p.Arg38Trp						p.R38W	NM_003251	NP_003242	Q92748	THRSP_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)		1	133	+	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		38					B2R4W7	Missense_Mutation	SNP	ENST00000281030.2	37	c.112C>T	CCDS8256.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.060281	0.55432	6.82E-4	0.0	ENSG00000151365	ENST00000281030	.	.	.	5.11	-0.846	0.10734	.	0.377447	0.25156	N	0.032720	T	0.39306	0.1073	.	.	.	0.40290	D	0.978496	P	0.37276	0.589	B	0.32980	0.156	T	0.35151	-0.9800	8	0.87932	D	0	-9.5659	9.5983	0.39587	0.468:0.4592:0.0:0.0728	.	38	Q92748	THRSP_HUMAN	W	38	.	ENSP00000281030:R38W	R	+	1	2	THRSP	77452687	0.999000	0.42202	0.424000	0.26647	0.463000	0.32649	0.630000	0.24553	0.025000	0.15241	-0.314000	0.08810	CGG		PASS	0.607	THRSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390939.1	NM_003251		4	119	4	119	---	---	---	---
IQSEC3	440073	broad.mit.edu	37	12	274629	274629	+	Missense_Mutation	SNP	C	C	G			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr12:274629C>G	ENST00000538872.1	+	10	2857	c.2739C>G	c.(2737-2739)agC>agG	p.S913R	RP11-598F7.5_ENST00000540136.1_RNA|RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000382841.2_Missense_Mutation_p.S610R|IQSEC3_ENST00000326261.4_Missense_Mutation_p.S913R			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	913	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.S610R(1)|p.S913R(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AGAAGAAGAGCTCCTCCACGT	0.498																																						uc001qhw.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(1828-1830)AGC>AGG		IQ motif and Sec7 domain 3							192.0	180.0	184.0					12																	274629		2203	4300	6503	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:274629C>G	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2739C>G	12.37:g.274629C>G	ENSP00000437554:p.Ser913Arg					IQSEC3_uc001qhu.1_Missense_Mutation_p.S610R	p.S610R	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	7	1836	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		913			PH.		A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.1830C>G	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739966	0.49045	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.28454	1.61;1.61;1.61	4.87	2.07	0.26955	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.070853	0.50627	D	0.000102	T	0.32882	0.0844	L	0.47190	1.495	0.43279	D	0.995241	B;B	0.33212	0.027;0.402	B;P	0.45971	0.044;0.499	T	0.11665	-1.0578	10	0.56958	D	0.05	.	5.389	0.16234	0.1399:0.6381:0.0:0.222	.	913;610	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	R	913;913;610	ENSP00000437554:S913R;ENSP00000315662:S913R;ENSP00000372292:S610R	ENSP00000315662:S913R	S	+	3	2	IQSEC3	144890	0.851000	0.29673	0.998000	0.56505	0.782000	0.44232	0.006000	0.13152	0.355000	0.24131	-0.143000	0.13931	AGC		PASS	0.498	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		9	91	9	91	---	---	---	---
TULP3	7289	broad.mit.edu	37	12	3043692	3043692	+	Missense_Mutation	SNP	G	G	A			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr12:3043692G>A	ENST00000448120.2	+	8	940	c.889G>A	c.(889-891)Gcc>Acc	p.A297T	TULP3_ENST00000397132.2_Missense_Mutation_p.A297T	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	297					anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)	p.A297T(1)		endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GGTAGGAGCGGCCCACACCCG	0.592																																						uc010seh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(889-891)GCC>ACC		tubby like protein 3 isoform 1							91.0	97.0	95.0					12																	3043692		2203	4300	6503	SO:0001583	missense	7289				G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding	g.chr12:3043692G>A	AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"""Intraflagellar transport homologs"""	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.889G>A	12.37:g.3043692G>A	ENSP00000410051:p.Ala297Thr					TULP3_uc010sef.1_RNA|TULP3_uc009zec.1_Missense_Mutation_p.A24T|TULP3_uc010seg.1_RNA|TULP3_uc001qlj.2_Missense_Mutation_p.A297T|TULP3_uc010sei.1_Missense_Mutation_p.A154T	p.A297T	NM_003324	NP_003315	O75386	TULP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		8	970	+			297					B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Missense_Mutation	SNP	ENST00000448120.2	37	c.889G>A	CCDS8519.1	.	.	.	.	.	.	.	.	.	.	G	8.612	0.889419	0.17540	.	.	ENSG00000078246	ENST00000228245;ENST00000544943;ENST00000542730;ENST00000448120;ENST00000397132	D;D;D	0.85088	-1.94;-1.94;-1.94	5.2	4.31	0.51392	Tubby, C-terminal (3);	0.466199	0.26282	N	0.025263	T	0.77103	0.4081	L	0.31526	0.94	0.31148	N	0.705799	B;B;B	0.22683	0.018;0.007;0.073	B;B;B	0.21360	0.034;0.013;0.034	T	0.73861	-0.3849	10	0.38643	T	0.18	-16.3157	12.6255	0.56628	0.0797:0.0:0.9203:0.0	.	154;297;297	B7Z1E7;O75386;F8WBZ9	.;TULP3_HUMAN;.	T	297;24;154;297;297	ENSP00000442631:A24T;ENSP00000410051:A297T;ENSP00000380321:A297T	ENSP00000228245:A297T	A	+	1	0	TULP3	2913953	0.003000	0.15002	0.168000	0.22838	0.068000	0.16541	0.085000	0.14912	1.196000	0.43129	0.561000	0.74099	GCC		PASS	0.592	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398468.1	NM_003324		15	100	15	100	---	---	---	---
NOP2	4839	broad.mit.edu	37	12	6669272	6669272	+	Missense_Mutation	SNP	G	G	C			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr12:6669272G>C	ENST00000322166.5	-	15	1902	c.1781C>G	c.(1780-1782)tCc>tGc	p.S594C	NOP2_ENST00000537442.1_Missense_Mutation_p.S594C|NOP2_ENST00000545200.1_Missense_Mutation_p.S590C|NOP2_ENST00000542015.1_5'UTR|NOP2_ENST00000399466.2_Missense_Mutation_p.S590C|NOP2_ENST00000382421.3_Missense_Mutation_p.S627C|NOP2_ENST00000541778.1_Missense_Mutation_p.S590C	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	594					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.S590C(1)		breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						ACCTGTCTGGGACTGAGGGAT	0.463																																						uc001qph.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1768-1770)TCC>TGC		nucleolar protein 1, 120kDa							76.0	76.0	76.0					12																	6669272		1876	4126	6002	SO:0001583	missense	4839				positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr12:6669272G>C		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.1781C>G	12.37:g.6669272G>C	ENSP00000313272:p.Ser594Cys					NOP2_uc009zeq.1_Missense_Mutation_p.S306C|NOP2_uc001qpi.1_Missense_Mutation_p.S590C|NOP2_uc001qpj.1_Missense_Mutation_p.S19C	p.S590C	NM_001033714	NP_001028886	P46087	NOP2_HUMAN			15	1949	-			594					A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	ENST00000322166.5	37	c.1769C>G	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	G	3.217	-0.160413	0.06502	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778	T;T;T;T;T;T	0.15603	2.41;2.41;2.45;2.42;2.41;2.42	4.95	4.07	0.47477	.	0.749808	0.13550	N	0.379588	T	0.17066	0.0410	L	0.27053	0.805	0.31514	N	0.663256	P;B;B	0.41041	0.736;0.005;0.009	B;B;B	0.43018	0.405;0.01;0.023	T	0.08659	-1.0711	10	0.62326	D	0.03	-1.5863	13.6176	0.62118	0.0749:0.0:0.9251:0.0	.	590;594;590	Q05BA7;P46087;P46087-2	.;NOP2_HUMAN;.	C	594;627;590;590;594;590	ENSP00000444437:S594C;ENSP00000371858:S627C;ENSP00000439422:S590C;ENSP00000382392:S590C;ENSP00000313272:S594C;ENSP00000443150:S590C	ENSP00000313272:S594C	S	-	2	0	NOP2	6539533	0.294000	0.24380	0.023000	0.16930	0.003000	0.03518	2.399000	0.44495	1.315000	0.45114	-0.137000	0.14449	TCC		PASS	0.463	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170		5	30	5	30	---	---	---	---
C1S	716	broad.mit.edu	37	12	7177174	7177174	+	Missense_Mutation	SNP	G	G	A			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr12:7177174G>A	ENST00000406697.1	+	15	1914	c.1286G>A	c.(1285-1287)aGa>aAa	p.R429K	C1S_ENST00000328916.3_Missense_Mutation_p.R429K|C1S_ENST00000495061.1_3'UTR|C1S_ENST00000402681.3_Missense_Mutation_p.R262K|C1S_ENST00000360817.5_Missense_Mutation_p.R429K			P09871	C1S_HUMAN	complement component 1, s subcomponent	429					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)	p.R429K(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGAGTCCCCAGAGAACCCTTT	0.453																																					GBM(156;750 1943 12971 24779 31015)	uc001qsj.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1285-1287)AGA>AAA		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						84.0	87.0	86.0					12																	7177174		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7177174G>A		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1286G>A	12.37:g.7177174G>A	ENSP00000385035:p.Arg429Lys					C1S_uc001qsk.2_Missense_Mutation_p.R429K|C1S_uc001qsl.2_Missense_Mutation_p.R429K|C1S_uc009zfr.2_Missense_Mutation_p.R262K|C1S_uc009zfs.2_RNA	p.R429K	NM_201442	NP_958850	P09871	C1S_HUMAN			15	2005	+			429					D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.1286G>A	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622819	0.28889	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	4.78	-1.83	0.07833	Peptidase cysteine/serine, trypsin-like (1);Complement control module (1);	0.782016	0.11235	N	0.585254	T	0.20373	0.0490	N	0.11789	0.175	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29731	-1.0002	10	0.02654	T	1	.	6.2993	0.21103	0.2746:0.3529:0.3725:0.0	.	429	P09871	C1S_HUMAN	K	429;429;429;423;262	ENSP00000385035:R429K;ENSP00000328173:R429K;ENSP00000354057:R429K;ENSP00000384171:R262K	ENSP00000328173:R429K	R	+	2	0	C1S	7047435	0.000000	0.05858	0.002000	0.10522	0.570000	0.35934	0.004000	0.13106	-0.595000	0.05828	0.462000	0.41574	AGA		PASS	0.453	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		16	91	16	91	---	---	---	---
LRP6	4040	broad.mit.edu	37	12	12311774	12311774	+	Missense_Mutation	SNP	C	C	A			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr12:12311774C>A	ENST00000261349.4	-	12	2856	c.2780G>T	c.(2779-2781)aGg>aTg	p.R927M	LRP6_ENST00000543091.1_Missense_Mutation_p.R927M	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	927	EGF-like 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R927M(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ACTACAAGTCCTGTTGTCAGC	0.458																																						uc001rah.3																			1	Substitution - Missense(1)		lung(1)	lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12						c.(2779-2781)AGG>ATG		low density lipoprotein receptor-related protein							94.0	92.0	93.0					12																	12311774		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12311774C>A	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2780G>T	12.37:g.12311774C>A	ENSP00000261349:p.Arg927Met					BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R927M	p.R927M	NM_002336	NP_002327	O75581	LRP6_HUMAN			12	2922	-		Prostate(47;0.0865)	927			Extracellular (Potential).|EGF-like 3.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.2780G>T	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981743	0.34942	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.97089	-4.24;-4.24	5.82	4.94	0.65067	Epidermal growth factor-like (1);	0.078920	0.52532	D	0.000071	D	0.95156	0.8430	M	0.82193	2.58	0.44012	D	0.996723	P;P	0.41366	0.543;0.747	B;B	0.30572	0.103;0.117	D	0.93521	0.6861	10	0.42905	T	0.14	.	9.428	0.38592	0.0:0.7878:0.0:0.2122	.	927;927	F5H7J9;O75581	.;LRP6_HUMAN	M	927	ENSP00000261349:R927M;ENSP00000442472:R927M	ENSP00000261349:R927M	R	-	2	0	LRP6	12203041	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.935000	0.48963	1.477000	0.48234	-0.137000	0.14449	AGG		PASS	0.458	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			14	51	14	51	---	---	---	---
ATF7IP	55729	broad.mit.edu	37	12	14613896	14613896	+	Missense_Mutation	SNP	C	C	T			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr12:14613896C>T	ENST00000540793.1	+	8	2781	c.2626C>T	c.(2626-2628)Cca>Tca	p.P876S	ATF7IP_ENST00000536444.1_Missense_Mutation_p.P875S|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000544627.1_Missense_Mutation_p.P884S|ATF7IP_ENST00000543189.1_Missense_Mutation_p.P875S|ATF7IP_ENST00000261168.4_Missense_Mutation_p.P876S			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	876					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.P876S(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GCAGGCTGTTCCAACAGCACA	0.478																																						uc001rbw.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|skin(1)	5						c.(2626-2628)CCA>TCA		activating transcription factor 7 interacting							84.0	72.0	76.0					12																	14613896		2203	4300	6503	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14613896C>T	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.2626C>T	12.37:g.14613896C>T	ENSP00000444589:p.Pro876Ser					ATF7IP_uc010shs.1_3'UTR|ATF7IP_uc001rbu.2_Missense_Mutation_p.P876S|ATF7IP_uc001rbv.1_Missense_Mutation_p.P875S|ATF7IP_uc001rbx.2_Missense_Mutation_p.P875S|ATF7IP_uc010sht.1_3'UTR|ATF7IP_uc001rby.3_Missense_Mutation_p.P876S|ATF7IP_uc001rca.2_Missense_Mutation_p.P876S	p.P876S	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN			9	2784	+			876					F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.2626C>T	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919830	0.33908	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.21191	2.07;2.23;2.06;2.02;2.07	6.16	4.04	0.47022	.	0.264094	0.33938	N	0.004406	T	0.20170	0.0485	L	0.39633	1.23	0.39912	D	0.974047	B;B;P;P	0.35628	0.196;0.196;0.513;0.513	B;B;B;B	0.38985	0.072;0.072;0.287;0.287	T	0.06881	-1.0802	9	.	.	.	-7.8844	13.5326	0.61631	0.0:0.8094:0.0:0.1906	.	875;876;875;487	G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;MCAF1_HUMAN;.;.	S	876;875;875;884;876	ENSP00000261168:P876S;ENSP00000443179:P875S;ENSP00000445955:P875S;ENSP00000440440:P884S;ENSP00000444589:P876S	.	P	+	1	0	ATF7IP	14505163	0.977000	0.34250	1.000000	0.80357	0.908000	0.53690	0.331000	0.19733	1.616000	0.50265	0.650000	0.86243	CCA		PASS	0.478	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		6	45	6	45	---	---	---	---
ABCD2	225	broad.mit.edu	37	12	39947745	39947745	+	Missense_Mutation	SNP	T	T	G			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr12:39947745T>G	ENST00000308666.3	-	10	2327	c.2192A>C	c.(2191-2193)aAa>aCa	p.K731T		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	731					fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.K731T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TTTAATTGTTTTCAGCACTGA	0.313																																						uc001rmb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(2191-2193)AAA>ACA		ATP-binding cassette, sub-family D, member 2							62.0	58.0	60.0					12																	39947745		2202	4299	6501	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:39947745T>G	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.2192A>C	12.37:g.39947745T>G	ENSP00000310688:p.Lys731Thr						p.K731T	NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN			10	2618	-			731					B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.2192A>C	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.945242	0.53079	.	.	ENSG00000173208	ENST00000308666	D	0.94828	-3.53	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.90133	0.6917	L	0.43152	1.355	0.58432	D	0.999994	B	0.32693	0.38	B	0.21360	0.034	D	0.88557	0.3120	9	.	.	.	-17.2384	14.9249	0.70868	0.0:0.0:0.0:1.0	.	731	Q9UBJ2	ABCD2_HUMAN	T	731	ENSP00000310688:K731T	.	K	-	2	0	ABCD2	38234012	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.932000	0.87634	1.989000	0.58080	0.460000	0.39030	AAA		PASS	0.313	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		5	28	5	28	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49437450	49437450	+	Nonsense_Mutation	SNP	G	G	C			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr12:49437450G>C	ENST00000301067.7	-	23	5434	c.5435C>G	c.(5434-5436)tCa>tGa	p.S1812*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1812					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.S1812*(1)|p.S1542*(1)									CTTCCTTTCTGAGCCTCCATC	0.537											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Substitution - Nonsense(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(5434-5436)TCA>TGA		myeloid/lymphoid or mixed-lineage leukemia 2							67.0	67.0	67.0					12																	49437450		1934	4153	6087	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49437450G>C	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5435C>G	12.37:g.49437450G>C	ENSP00000301067:p.Ser1812*	HNSCC(34;0.089)	OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	962		p.S1812*	NM_003482	NP_003473	O14686	MLL2_HUMAN			23	5435	-			1812					O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.5435C>G	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	45	12.057636	0.99631	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.5	5.5	0.81552	.	0.288731	0.18991	N	0.125589	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.3196	0.82941	0.0:0.0:1.0:0.0	.	.	.	.	X	1812	.	ENSP00000301067:S1812X	S	-	2	0	MLL2	47723717	0.452000	0.25713	1.000000	0.80357	0.981000	0.71138	3.115000	0.50391	2.574000	0.86865	0.655000	0.94253	TCA		PASS	0.537	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			5	40	5	40	---	---	---	---
CALCOCO1	57658	broad.mit.edu	37	12	54109071	54109071	+	Missense_Mutation	SNP	T	T	C			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr12:54109071T>C	ENST00000550804.1	-	10	1359	c.1299A>G	c.(1297-1299)atA>atG	p.I433M	CALCOCO1_ENST00000430117.2_Missense_Mutation_p.I348M|CALCOCO1_ENST00000548263.1_Missense_Mutation_p.I433M|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.I433M			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	433					intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)	p.I433M(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CCAATCGAAGTATCTCTGCAC	0.527																																						uc001sef.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1297-1299)ATA>ATG		coiled-coil transcriptional coactivator isoform							184.0	159.0	168.0					12																	54109071		2203	4300	6503	SO:0001583	missense	57658				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr12:54109071T>C	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.1299A>G	12.37:g.54109071T>C	ENSP00000449960:p.Ile433Met					CALCOCO1_uc001see.2_5'Flank|CALCOCO1_uc010som.1_Missense_Mutation_p.I348M|CALCOCO1_uc010son.1_Missense_Mutation_p.I310M|CALCOCO1_uc001seh.2_Missense_Mutation_p.I433M|CALCOCO1_uc009znd.2_Missense_Mutation_p.I433M|CALCOCO1_uc001seg.2_Missense_Mutation_p.I258M|CALCOCO1_uc010soo.1_Missense_Mutation_p.I426M	p.I433M	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN			10	1443	-			433			Potential.		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	ENST00000550804.1	37	c.1299A>G	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	T	16.57	3.161507	0.57368	.	.	ENSG00000012822	ENST00000342760;ENST00000430117;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804;ENST00000549935	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	5.58	-4.07	0.03975	.	0.512228	0.16444	N	0.214161	T	0.05410	0.0143	N	0.22421	0.69	0.32263	N	0.569833	P;B;B;B;B;B	0.39022	0.655;0.006;0.374;0.005;0.006;0.427	B;B;B;B;B;B	0.39617	0.305;0.008;0.203;0.007;0.008;0.305	T	0.34875	-0.9811	10	0.33940	T	0.23	-8.9968	4.2013	0.10467	0.1669:0.1019:0.5131:0.218	.	426;348;433;433;348;433	B4DG60;E9PAU0;Q9P1Z2-3;Q9P1Z2-2;E7EPK7;Q9P1Z2	.;.;.;.;.;CACO1_HUMAN	M	110;348;433;371;433;433;426	ENSP00000397189:I348M;ENSP00000262059:I433M;ENSP00000447647:I433M;ENSP00000449960:I433M	ENSP00000262059:I433M	I	-	3	3	CALCOCO1	52395338	0.957000	0.32711	0.975000	0.42487	0.942000	0.58702	-0.181000	0.09740	-0.298000	0.08921	-0.313000	0.08912	ATA		PASS	0.527	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		7	46	7	46	---	---	---	---
LRRIQ1	84125	broad.mit.edu	37	12	85547826	85547826	+	Silent	SNP	G	G	A			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr12:85547826G>A	ENST00000393217.2	+	23	4735	c.4674G>A	c.(4672-4674)ttG>ttA	p.L1558L		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1558								p.L1558L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AGCAAATGTTGAAGAGGGCAC	0.294																																						uc001tac.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4672-4674)TTG>TTA		leucine-rich repeats and IQ motif containing 1							33.0	32.0	32.0					12																	85547826		1783	4041	5824	SO:0001819	synonymous_variant	84125							g.chr12:85547826G>A	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4674G>A	12.37:g.85547826G>A							p.L1558L	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	23	4785	+			1558					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.4674G>A	CCDS41816.1																																																																																				PASS	0.294	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		3	13	3	13	---	---	---	---
ACACB	32	broad.mit.edu	37	12	109654654	109654654	+	Missense_Mutation	SNP	T	T	A			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr12:109654654T>A	ENST00000338432.7	+	24	3612	c.3493T>A	c.(3493-3495)Tcc>Acc	p.S1165T	ACACB_ENST00000377848.3_Missense_Mutation_p.S1165T|ACACB_ENST00000377854.5_Intron			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1165					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.S1165T(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GCCAGACATGTCCCAGGTGCT	0.537																																						uc001tob.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(3493-3495)TCC>ACC		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						110.0	90.0	97.0					12																	109654654		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109654654T>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3493T>A	12.37:g.109654654T>A	ENSP00000341044:p.Ser1165Thr					ACACB_uc001toc.2_Missense_Mutation_p.S1165T	p.S1165T	NM_001093	NP_001084	O00763	ACACB_HUMAN			24	3612	+			1165					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.3493T>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	T	10.41	1.343592	0.24339	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000390027	T;T	0.45668	0.89;0.89	5.33	-0.262	0.12958	Acetyl-CoA carboxylase, central domain (1);	0.278938	0.38111	N	0.001815	T	0.16811	0.0404	N	0.10760	0.04	0.80722	D	1	B	0.02656	0.0	B	0.15052	0.012	T	0.12167	-1.0558	10	0.11794	T	0.64	.	6.8265	0.23887	0.4459:0.0:0.308:0.2461	.	1165	O00763	ACACB_HUMAN	T	1165;1165;396	ENSP00000341044:S1165T;ENSP00000367079:S1165T	ENSP00000341044:S1165T	S	+	1	0	ACACB	108139037	0.999000	0.42202	0.954000	0.39281	0.998000	0.95712	1.318000	0.33643	-0.198000	0.10333	0.529000	0.55759	TCC		PASS	0.537	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		4	32	4	32	---	---	---	---
HSPB8	26353	broad.mit.edu	37	12	119617441	119617441	+	Silent	SNP	G	G	A			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr12:119617441G>A	ENST00000281938.2	+	1	995	c.324G>A	c.(322-324)gaG>gaA	p.E108E	RP11-64B16.4_ENST00000535921.1_RNA	NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	108					cell death (GO:0008219)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	identical protein binding (GO:0042802)	p.E108E(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCAAGCCAGAGGAGTTGATGG	0.617																																						uc001txb.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(322-324)GAG>GAA		heat shock 22kDa protein 8							57.0	54.0	55.0					12																	119617441		2203	4300	6503	SO:0001819	synonymous_variant	26353				cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity	g.chr12:119617441G>A	AF191017	CCDS9189.1	12q24.23	2014-09-17	2004-04-23					"""Heat shock proteins / HSPB"""	30171	protein-coding gene	gene with protein product		608014	"""heat shock 27kDa protein 8"""			10833516, 11085516	Standard	NM_014365		Approved	H11, E2IG1, HSP22, HspB8	uc001txb.3	Q9UJY1		ENST00000281938.2:c.324G>A	12.37:g.119617441G>A						HSPB8_uc001txc.2_Silent_p.E108E	p.E108E	NM_014365	NP_055180	Q9UJY1	HSPB8_HUMAN			1	847	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		108					B2R6A6|Q6FIH3|Q9UKS3	Silent	SNP	ENST00000281938.2	37	c.324G>A	CCDS9189.1	.	.	.	.	.	.	.	.	.	.	G	9.614	1.132052	0.21041	.	.	ENSG00000152137	ENST00000541798	.	.	.	4.09	3.18	0.36537	.	.	.	.	.	T	0.61837	0.2379	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59364	-0.7468	4	.	.	.	.	11.2625	0.49091	0.0914:0.0:0.9086:0.0	.	.	.	.	K	16	.	.	R	+	2	0	HSPB8	118101824	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.469000	0.53093	1.052000	0.40392	0.563000	0.77884	AGG		PASS	0.617	HSPB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401647.1	NM_014365		5	24	5	24	---	---	---	---
USPL1	10208	broad.mit.edu	37	13	31231868	31231868	+	Missense_Mutation	SNP	G	G	C			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr13:31231868G>C	ENST00000255304.4	+	9	1996	c.1654G>C	c.(1654-1656)Gat>Cat	p.D552H		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	552					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)	p.D552H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TCACCCTAAAGATATATCAGT	0.433																																					Ovarian(60;318 1180 1554 28110 31601)	uc001utc.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|skin(1)	3						c.(1654-1656)GAT>CAT		ubiquitin specific peptidase like 1							118.0	117.0	118.0					13																	31231868		2203	4300	6503	SO:0001583	missense	10208				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr13:31231868G>C	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.1654G>C	13.37:g.31231868G>C	ENSP00000255304:p.Asp552His					USPL1_uc001utd.2_Missense_Mutation_p.D223H|USPL1_uc001ute.1_Missense_Mutation_p.D223H	p.D552H	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	9	2086	+		Lung SC(185;0.0257)|Breast(139;0.203)	552					Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	37	c.1654G>C	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	G	9.708	1.156190	0.21454	.	.	ENSG00000132952	ENST00000255304	T	0.07800	3.16	5.79	-11.6	0.00059	.	1.713730	0.03002	N	0.148345	T	0.06142	0.0159	L	0.43152	1.355	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.24657	-1.0154	10	0.59425	D	0.04	1.5954	3.054	0.06179	0.4404:0.2372:0.1934:0.129	.	552	Q5W0Q7	USPL1_HUMAN	H	552	ENSP00000255304:D552H	ENSP00000255304:D552H	D	+	1	0	USPL1	30129868	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.101000	0.01344	-3.858000	0.00098	-0.961000	0.02630	GAT		PASS	0.433	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		7	121	7	121	---	---	---	---
TPP2	7174	broad.mit.edu	37	13	103275340	103275340	+	Missense_Mutation	SNP	C	C	T			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr13:103275340C>T	ENST00000376065.4	+	6	770	c.734C>T	c.(733-735)tCc>tTc	p.S245F	TPP2_ENST00000376052.3_Missense_Mutation_p.S245F	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	245	Peptidase S8.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)	p.S245F(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTGAATTACTCCGTTAATATA	0.393																																						uc001vpi.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(733-735)TCC>TTC		tripeptidyl peptidase II							166.0	168.0	167.0					13																	103275340		2203	4300	6503	SO:0001583	missense	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103275340C>T	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.734C>T	13.37:g.103275340C>T	ENSP00000365233:p.Ser245Phe						p.S245F	NM_003291	NP_003282	P29144	TPP2_HUMAN			6	837	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		245					Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	c.734C>T	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835189	0.91117	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.78	5.78	0.91487	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.000000	0.85682	D	0.000000	T	0.78310	0.4263	M	0.79011	2.435	0.80722	D	1	D	0.55172	0.97	P	0.57846	0.828	T	0.79916	-0.1601	9	0.72032	D	0.01	.	19.9959	0.97383	0.0:1.0:0.0:0.0	.	245	P29144	TPP2_HUMAN	F	245	.	ENSP00000365220:S245F	S	+	2	0	TPP2	102073341	1.000000	0.71417	0.967000	0.41034	0.973000	0.67179	7.270000	0.78493	2.737000	0.93849	0.585000	0.79938	TCC		PASS	0.393	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			5	167	5	167	---	---	---	---
ACIN1	22985	broad.mit.edu	37	14	23549781	23549781	+	Silent	SNP	T	T	G			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr14:23549781T>G	ENST00000262710.1	-	6	1264	c.937A>C	c.(937-939)Aga>Cga	p.R313R	ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000605057.1_Silent_p.R255R|ACIN1_ENST00000555053.1_Silent_p.R313R|ACIN1_ENST00000457657.1_Silent_p.R273R	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	313	Glu-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R313R(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGTTTTACTCTAGGTATCTCT	0.453																																						uc001wit.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(937-939)AGA>CGA		apoptotic chromatin condensation inducer 1							248.0	216.0	227.0					14																	23549781		2203	4300	6503	SO:0001819	synonymous_variant	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23549781T>G	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.937A>C	14.37:g.23549781T>G						ACIN1_uc001wis.3_5'UTR|ACIN1_uc010akg.2_Silent_p.R313R|ACIN1_uc010tnj.1_Silent_p.R273R	p.R313R	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	6	1265	-	all_cancers(95;1.36e-05)		313			Glu-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Silent	SNP	ENST00000262710.1	37	c.937A>C	CCDS9587.1																																																																																				PASS	0.453	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		7	80	7	80	---	---	---	---
STRN3	29966	broad.mit.edu	37	14	31382827	31382827	+	Missense_Mutation	SNP	G	G	A			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr14:31382827G>A	ENST00000357479.5	-	10	1473	c.1277C>T	c.(1276-1278)tCa>tTa	p.S426L	STRN3_ENST00000355683.5_Missense_Mutation_p.S342L|STRN3_ENST00000366206.2_Intron	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	426					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S342L(1)|p.S426L(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		CATAATAAATGACTTGCCTCC	0.383																																						uc001wqu.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1276-1278)TCA>TTA		nuclear autoantigen isoform 1							139.0	138.0	138.0					14																	31382827		2203	4300	6503	SO:0001583	missense	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31382827G>A		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.1277C>T	14.37:g.31382827G>A	ENSP00000350071:p.Ser426Leu					STRN3_uc001wqv.2_Missense_Mutation_p.S342L|STRN3_uc010tpj.1_Intron	p.S426L	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	10	1493	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		426					A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	c.1277C>T	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	G	32	5.111919	0.94339	.	.	ENSG00000196792	ENST00000355683;ENST00000357479;ENST00000554991	T;T	0.62232	0.04;2.27	5.97	5.97	0.96955	.	0.056966	0.64402	D	0.000001	T	0.64962	0.2646	L	0.47716	1.5	0.80722	D	1	P;P	0.41848	0.763;0.455	P;B	0.44359	0.447;0.193	T	0.63879	-0.6537	10	0.49607	T	0.09	-18.801	20.4387	0.99107	0.0:0.0:1.0:0.0	.	342;426	Q13033-2;Q13033	.;STRN3_HUMAN	L	342;426;107	ENSP00000347909:S342L;ENSP00000350071:S426L	ENSP00000347909:S342L	S	-	2	0	STRN3	30452578	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.312000	0.78968	2.836000	0.97738	0.655000	0.94253	TCA		PASS	0.383	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		5	94	5	94	---	---	---	---
FUT8	2530	broad.mit.edu	37	14	66136158	66136158	+	Silent	SNP	A	A	T			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr14:66136158A>T	ENST00000360689.5	+	7	2522	c.795A>T	c.(793-795)acA>acT	p.T265T	FUT8_ENST00000417683.1_Start_Codon_SNP_p.M1L|FUT8_ENST00000394585.1_Silent_p.T265T|FUT8_ENST00000358307.2_Silent_p.T136T|FUT8_ENST00000557164.1_Silent_p.T102T|FUT8_ENST00000554765.1_3'UTR|FUT8_ENST00000394586.2_Silent_p.T265T	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	265	GT23. {ECO:0000255|PROSITE- ProRule:PRU00992}.				cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)	p.T265T(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TAAGTGAGACATGCACAGACA	0.473																																						uc001xin.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(793-795)ACA>ACT		fucosyltransferase 8 isoform a							160.0	140.0	147.0					14																	66136158		2203	4300	6503	SO:0001819	synonymous_variant	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66136158A>T	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.795A>T	14.37:g.66136158A>T						FUT8_uc001xio.2_Silent_p.T265T|FUT8_uc010tsp.1_Silent_p.T102T|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Silent_p.T265T|FUT8_uc001xiq.2_Silent_p.T136T|FUT8_uc001xis.2_Missense_Mutation_p.M1L	p.T265T	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	7	1992	+			265			Lumenal (Potential).		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Silent	SNP	ENST00000360689.5	37	c.795A>T	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.866468	0.32977	.	.	ENSG00000033170	ENST00000417683	T	0.38722	1.12	5.85	2.36	0.29203	.	.	.	.	.	T	0.32704	0.0838	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10590	-1.0623	8	0.87932	D	0	-10.2664	7.4741	0.27365	0.5543:0.3634:0.0822:0.0	.	1	Q8IUA5	.	L	1	ENSP00000396770:M1L	ENSP00000396770:M1L	M	+	1	0	FUT8	65205911	0.021000	0.18746	1.000000	0.80357	0.992000	0.81027	-0.657000	0.05335	0.183000	0.20059	-0.261000	0.10672	ATG		PASS	0.473	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		4	51	4	51	---	---	---	---
GABRB3	2562	broad.mit.edu	37	15	26825481	26825481	+	Missense_Mutation	SNP	C	C	A			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr15:26825481C>A	ENST00000311550.5	-	6	778	c.667G>T	c.(667-669)Gtt>Ttt	p.V223F	GABRB3_ENST00000299267.4_Missense_Mutation_p.V223F|GABRB3_ENST00000545868.1_Missense_Mutation_p.V138F|GABRB3_ENST00000400188.3_Missense_Mutation_p.V152F|GABRB3_ENST00000541819.2_Missense_Mutation_p.V279F	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	223					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.V223F(2)|p.V279F(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCGAAGACAACATTCCTCGAG	0.557																																						uc001zaz.2																			3	Substitution - Missense(3)		lung(3)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(667-669)GTT>TTT		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						116.0	107.0	110.0					15																	26825481		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26825481C>A		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.667G>T	15.37:g.26825481C>A	ENSP00000308725:p.Val223Phe					GABRB3_uc010uae.1_Missense_Mutation_p.V138F|GABRB3_uc001zba.2_Missense_Mutation_p.V223F|GABRB3_uc001zbb.2_Missense_Mutation_p.V279F	p.V223F	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	6	809	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	223			Extracellular (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.667G>T	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	34	5.298506	0.95574	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;1.18	5.35	5.35	0.76521	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.85150	0.5631	L	0.43757	1.38	0.80722	D	1	P;D;D	0.56968	0.941;0.973;0.978	P;P;P	0.60345	0.8;0.8;0.873	D	0.86116	0.1565	10	0.66056	D	0.02	.	18.4139	0.90562	0.0:1.0:0.0:0.0	.	279;223;223	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	F	223;279;223;152;138;138	ENSP00000308725:V223F;ENSP00000442408:V279F;ENSP00000299267:V223F;ENSP00000383049:V152F;ENSP00000439169:V138F;ENSP00000452272:V138F	ENSP00000299267:V223F	V	-	1	0	GABRB3	24376574	1.000000	0.71417	0.989000	0.46669	0.983000	0.72400	7.658000	0.83755	2.667000	0.90743	0.655000	0.94253	GTT		PASS	0.557	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			6	35	6	35	---	---	---	---
ARHGAP11A	9824	broad.mit.edu	37	15	32929036	32929036	+	Missense_Mutation	SNP	A	A	G			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr15:32929036A>G	ENST00000361627.3	+	12	2784	c.2062A>G	c.(2062-2064)Ata>Gta	p.I688V	ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.I499V|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.I499V	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	688					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.I688V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		AGAAACAACTATAAAATGTTA	0.323																																					Colon(45;757 1134 30003 36652)	uc001zgy.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|breast(2)|urinary_tract(1)	6						c.(2062-2064)ATA>GTA		Rho GTPase activating protein 11A isoform 1							24.0	27.0	26.0					15																	32929036		2181	4272	6453	SO:0001583	missense	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32929036A>G	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.2062A>G	15.37:g.32929036A>G	ENSP00000355090:p.Ile688Val					ARHGAP11A_uc010ubw.1_Missense_Mutation_p.I499V|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.I499V	p.I688V	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	12	2784	+		all_lung(180;1.3e-11)	688					B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	c.2062A>G	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.932201	0.00488	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.09630	2.96	4.72	-4.53	0.03462	.	1.344520	0.04895	N	0.450241	T	0.08088	0.0202	L	0.38531	1.155	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.46048	-0.9219	10	0.06494	T	0.89	.	12.1153	0.53861	0.4143:0.0:0.5857:0.0	.	688	Q6P4F7	RHGBA_HUMAN	V	688;499	ENSP00000355090:I688V	ENSP00000355090:I688V	I	+	1	0	ARHGAP11A	30716328	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.069000	0.11542	-0.963000	0.03600	-0.297000	0.09499	ATA		PASS	0.323	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		9	41	9	41	---	---	---	---
AKAP13	11214	broad.mit.edu	37	15	86122914	86122914	+	Missense_Mutation	SNP	G	G	A			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr15:86122914G>A	ENST00000394518.2	+	7	1710	c.1615G>A	c.(1615-1617)Gct>Act	p.A539T	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.A539T	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	539					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.A539T(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CTGTGCCCCTGCTGCCAGTTC	0.458																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(1615-1617)GCT>ACT		A-kinase anchor protein 13 isoform 2							82.0	88.0	86.0					15																	86122914		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86122914G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.1615G>A	15.37:g.86122914G>A	ENSP00000378026:p.Ala539Thr					AKAP13_uc002blt.1_Missense_Mutation_p.A539T|AKAP13_uc002blu.1_Missense_Mutation_p.A539T	p.A539T	NM_007200	NP_009131	Q12802	AKP13_HUMAN			7	1785	+			539					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.1615G>A	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.161591	0.57368	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.14266	2.56;2.52	5.67	-0.86	0.10680	.	.	.	.	.	T	0.07638	0.0192	L	0.29908	0.895	0.09310	N	0.999998	B;B	0.12013	0.003;0.005	B;B	0.11329	0.003;0.006	T	0.39121	-0.9629	9	0.31617	T	0.26	.	1.1351	0.01753	0.3391:0.1429:0.3713:0.1467	.	539;539	Q12802;Q12802-2	AKP13_HUMAN;.	T	539;539;538;538	ENSP00000354718:A539T;ENSP00000378026:A539T	ENSP00000354718:A539T	A	+	1	0	AKAP13	83923918	0.012000	0.17670	0.001000	0.08648	0.006000	0.05464	0.236000	0.17967	0.146000	0.19002	-0.136000	0.14681	GCT		PASS	0.458	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		19	58	19	58	---	---	---	---
RHCG	51458	broad.mit.edu	37	15	90030051	90030051	+	Missense_Mutation	SNP	T	T	C			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr15:90030051T>C	ENST00000268122.4	-	2	418	c.350A>G	c.(349-351)tAc>tGc	p.Y117C	RHCG_ENST00000544600.1_Missense_Mutation_p.Y117C	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	117					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.Y117C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					CACGACGATGTAGCGGTCTTG	0.672																																						uc002bnz.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(349-351)TAC>TGC		Rh family, C glycoprotein							47.0	41.0	43.0					15																	90030051		2200	4299	6499	SO:0001583	missense	51458				amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr15:90030051T>C	AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"""Solute carriers"""	18140	protein-coding gene	gene with protein product		605381	"""chromosome 15 open reading frame 6"", ""Rhesus blood group, C glycoprotein"""	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.350A>G	15.37:g.90030051T>C	ENSP00000268122:p.Tyr117Cys					RHCG_uc002boa.2_RNA|RHCG_uc010bnq.1_5'UTR	p.Y117C	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN			2	374	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		117			Extracellular (Potential).		A8K4D4|Q6X3Y4	Missense_Mutation	SNP	ENST00000268122.4	37	c.350A>G	CCDS10351.1	.	.	.	.	.	.	.	.	.	.	t	11.01	1.512395	0.27123	.	.	ENSG00000140519	ENST00000544600;ENST00000268122;ENST00000536247	T;T	0.21932	1.98;1.98	4.49	3.33	0.38152	Ammonium transporter AmtB-like (3);	0.504968	0.21476	N	0.073908	T	0.21427	0.0516	M	0.62723	1.935	0.24768	N	0.992884	B	0.12630	0.006	B	0.10450	0.005	T	0.16512	-1.0400	9	.	.	.	-3.355	10.405	0.44252	0.1464:0.0:0.0:0.8536	.	117	Q9UBD6	RHCG_HUMAN	C	117;117;108	ENSP00000438123:Y117C;ENSP00000268122:Y117C	.	Y	-	2	0	RHCG	87831055	1.000000	0.71417	0.426000	0.26672	0.010000	0.07245	2.811000	0.47986	0.546000	0.28920	0.392000	0.25879	TAC		PASS	0.672	RHCG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000312855.2	NM_016321		10	15	10	15	---	---	---	---
SNX29	92017	broad.mit.edu	37	16	12136788	12136788	+	Silent	SNP	C	C	G			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr16:12136788C>G	ENST00000566228.1	+	5	351	c.282C>G	c.(280-282)ctC>ctG	p.L94L	SNX29_ENST00000568359.1_3'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	94	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)	p.L94L(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						AGGAGGTCCTCAACAAGCACG	0.652																																						uc002dbw.1										T					CIITA		PMBL|Hodgkin Lymphona|		1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(280-282)CTC>CTG		RUN domain containing 2A							49.0	42.0	45.0					16																	12136788		2197	4300	6497	SO:0001819	synonymous_variant	84127							g.chr16:12136788C>G	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.282C>G	16.37:g.12136788C>G							p.L94L	NM_032167	NP_115543	Q9HA26	RUN2A_HUMAN			5	344	+			94			RUN.		B5MDW2|Q8N2X2|Q9HA26	Silent	SNP	ENST00000566228.1	37	c.282C>G	CCDS10553.2																																																																																				PASS	0.652	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			5	28	5	28	---	---	---	---
PLA2G15	23659	broad.mit.edu	37	16	68293349	68293349	+	Missense_Mutation	SNP	A	A	G			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr16:68293349A>G	ENST00000219345.5	+	6	1111	c.1028A>G	c.(1027-1029)tAc>tGc	p.Y343C	PLA2G15_ENST00000566188.1_3'UTR|PLA2G15_ENST00000444212.2_Missense_Mutation_p.Y143C|RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000413021.2_Missense_Mutation_p.Y249C|RP11-96D1.7_ENST00000569843.1_RNA	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	343					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)	p.Y343C(1)		kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						GACTCCTTCTACTATGAGAGC	0.587																																						uc002evr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1027-1029)TAC>TGC		lysophospholipase 3 (lysosomal phospholipase A2)							92.0	82.0	86.0					16																	68293349		2198	4300	6498	SO:0001583	missense	23659				fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding	g.chr16:68293349A>G	AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"""lysophospholipase 3 (lysosomal phospholipase A2)"""	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.1028A>G	16.37:g.68293349A>G	ENSP00000219345:p.Tyr343Cys					PLA2G15_uc010vld.1_3'UTR|PLA2G15_uc010vle.1_Missense_Mutation_p.Y249C|PLA2G15_uc010vlf.1_Missense_Mutation_p.Y143C|PLA2G15_uc002evs.2_Missense_Mutation_p.Y164C	p.Y343C	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN			6	1111	+			343					B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Missense_Mutation	SNP	ENST00000219345.5	37	c.1028A>G	CCDS10864.1	.	.	.	.	.	.	.	.	.	.	A	16.90	3.250235	0.59212	.	.	ENSG00000103066	ENST00000413021;ENST00000219345;ENST00000444212	D;D;D	0.96334	-3.98;-3.98;-3.98	5.75	3.48	0.39840	.	0.674478	0.16162	N	0.226703	D	0.96144	0.8743	L	0.52573	1.65	0.36576	D	0.873294	D;D;P	0.64830	0.967;0.994;0.94	P;D;P	0.63192	0.792;0.912;0.72	D	0.94169	0.7421	10	0.40728	T	0.16	-10.9209	6.8926	0.24238	0.5031:0.1284:0.0:0.3684	.	143;249;343	B4DPU0;B4DUD1;Q8NCC3	.;.;PAG15_HUMAN	C	249;343;143	ENSP00000394197:Y249C;ENSP00000219345:Y343C;ENSP00000393610:Y143C	ENSP00000219345:Y343C	Y	+	2	0	PLA2G15	66850850	0.796000	0.28864	0.999000	0.59377	0.989000	0.77384	0.927000	0.28818	0.427000	0.26145	-0.301000	0.09380	TAC		PASS	0.587	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2	NM_012320		18	67	18	67	---	---	---	---
PMFBP1	83449	broad.mit.edu	37	16	72166725	72166725	+	Missense_Mutation	SNP	C	C	G			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr16:72166725C>G	ENST00000237353.10	-	10	1630	c.1369G>C	c.(1369-1371)Gag>Cag	p.E457Q	PMFBP1_ENST00000355636.6_Missense_Mutation_p.E312Q|PMFBP1_ENST00000537465.1_Missense_Mutation_p.E457Q	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	457						cytoplasm (GO:0005737)		p.E457Q(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GCCTTGCACTCCGCCTCCTTG	0.577																																						uc002fcc.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1369-1371)GAG>CAG		polyamine modulated factor 1 binding protein 1							158.0	126.0	137.0					16																	72166725		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72166725C>G	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.1369G>C	16.37:g.72166725C>G	ENSP00000237353:p.Glu457Gln					PMFBP1_uc002fcd.2_Missense_Mutation_p.E457Q|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.E312Q	p.E457Q	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN			10	1541	-		Ovarian(137;0.179)	457			Potential.		B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.1369G>C	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164485	0.38217	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.15139	2.46;2.47;2.45	4.51	3.51	0.40186	.	1.516960	0.04144	N	0.320168	T	0.19765	0.0475	L	0.29908	0.895	0.09310	N	1	P;B;P	0.44816	0.844;0.301;0.844	P;B;P	0.44359	0.447;0.13;0.447	T	0.30208	-0.9986	10	0.45353	T	0.12	-3.925	11.7546	0.51868	0.0:0.8228:0.1772:0.0	.	457;457;457	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	Q	457;457;312	ENSP00000443817:E457Q;ENSP00000237353:E457Q;ENSP00000347854:E312Q	ENSP00000237353:E457Q	E	-	1	0	PMFBP1	70724226	0.029000	0.19370	0.019000	0.16419	0.236000	0.25371	1.129000	0.31381	2.060000	0.61445	0.561000	0.74099	GAG		PASS	0.577	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		31	133	31	133	---	---	---	---
DPH1	1801	broad.mit.edu	37	17	1939277	1939277	+	Missense_Mutation	SNP	G	G	A			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr17:1939277G>A	ENST00000263083.6	+	4	352	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	DPH1_ENST00000576891.2_3'UTR|DPH1_ENST00000570477.1_Missense_Mutation_p.E23K	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	103					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E103K(1)		endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						CACGGAGGCCGAAGTGATGGT	0.642																																						uc002fts.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(307-309)GAA>AAA		diptheria toxin resistance protein required for							113.0	123.0	119.0					17																	1939277		2118	4214	6332	SO:0001583	missense	1801				peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		g.chr17:1939277G>A	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"""ovarian tumor suppressor candidate 1"""	603527	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)"", ""DPH-like 1 (S. cerevisiae)"", ""DPH1 homolog (S. cerevisiae)"""	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.307G>A	17.37:g.1939277G>A	ENSP00000263083:p.Glu103Lys					DPH1_uc002ftr.1_RNA|DPH1_uc002ftt.2_Missense_Mutation_p.E98K|DPH1_uc010cjx.2_Intron|DPH1_uc010vqs.1_Missense_Mutation_p.E113K|DPH1_uc002ftu.2_5'Flank|DPH1_uc002ftv.2_5'Flank	p.E103K	NM_001383	NP_001374	Q9BZG8	DPH1_HUMAN			4	325	+			103					D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Missense_Mutation	SNP	ENST00000263083.6	37	c.307G>A	CCDS42228.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628273	0.67015	.	.	ENSG00000108963	ENST00000263083	T	0.46063	0.88	4.73	4.73	0.59995	.	0.177694	0.49305	D	0.000160	T	0.41926	0.1180	L	0.59436	1.845	0.58432	D	0.999997	P;P;P	0.39094	0.638;0.638;0.659	B;B;B	0.36845	0.153;0.107;0.234	T	0.47849	-0.9085	10	0.54805	T	0.06	-12.1585	16.4794	0.84153	0.0:0.0:1.0:0.0	.	113;113;103	E7ENH3;B4DNK0;Q9BZG8	.;.;DPH1_HUMAN	K	103	ENSP00000263083:E103K	ENSP00000263083:E103K	E	+	1	0	DPH1	1886027	1.000000	0.71417	0.992000	0.48379	0.464000	0.32679	6.325000	0.72901	2.456000	0.83038	0.462000	0.41574	GAA		PASS	0.642	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	NM_001383		5	41	5	41	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACACTATGTCGAAAAGTGTTT	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	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		333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	p.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	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	CM951226	TP53	M		c.(637-639)CGA>TGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							132.0	118.0	123.0					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7578212G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.2_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.1_Nonsense_Mutation_p.R174*	p.R213*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	831	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and 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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.637C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		PASS	0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	27	7	27	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10307790	10307790	+	Nonsense_Mutation	SNP	C	C	A			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr17:10307790C>A	ENST00000403437.2	-	22	2639	c.2545G>T	c.(2545-2547)Gag>Tag	p.E849*	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	849					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.E849*(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATCTCTTTCTCGGTCTCTGCA	0.473									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			1	Substitution - Nonsense(1)		lung(1)	skin(6)|ovary(3)|breast(2)	11						c.(2545-2547)GAG>TAG		myosin, heavy chain 8, skeletal muscle,							141.0	135.0	137.0					17																	10307790		2203	4300	6503	SO:0001587	stop_gained	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10307790C>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2545G>T	17.37:g.10307790C>A	ENSP00000384330:p.Glu849*					uc002gml.1_Intron	p.E849*	NM_002472	NP_002463	P13535	MYH8_HUMAN			22	2640	-			849			Potential.		Q14910	Nonsense_Mutation	SNP	ENST00000403437.2	37	c.2545G>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	40	8.074158	0.98640	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	.	.	.	5.31	5.31	0.75309	.	0.000000	0.41938	U	0.000786	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.1738	0.93594	0.0:1.0:0.0:0.0	.	.	.	.	X	849	.	ENSP00000252173:E849X	E	-	1	0	MYH8	10248515	1.000000	0.71417	0.965000	0.40720	0.735000	0.41995	7.585000	0.82584	2.764000	0.94973	0.655000	0.94253	GAG		PASS	0.473	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		10	73	10	73	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27028597	27028597	+	Missense_Mutation	SNP	C	C	G	rs267604783		TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr17:27028597C>G	ENST00000314616.6	+	37	5418	c.5135C>G	c.(5134-5136)tCc>tGc	p.S1712C	PROCA1_ENST00000579650.1_5'Flank|SUPT6H_ENST00000347486.4_Missense_Mutation_p.S1712C	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1712	Interaction with histone H2B and H3.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S1712C(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ACCCCCATGTCCATTGCTGGC	0.637																																						uc002hby.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(5134-5136)TCC>TGC		suppressor of Ty 6 homolog							64.0	56.0	58.0					17																	27028597		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27028597C>G	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.5135C>G	17.37:g.27028597C>G	ENSP00000319104:p.Ser1712Cys					SUPT6H_uc010crt.2_Missense_Mutation_p.S1712C	p.S1712C	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN			37	5225	+	Lung NSC(42;0.00431)		1712					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.5135C>G	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639435	0.87760	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.76849	0.4045	M	0.65498	2.005	0.80722	D	1	D	0.76494	0.999	P	0.62813	0.907	T	0.76804	-0.2824	9	0.48119	T	0.1	-23.6994	19.2404	0.93879	0.0:1.0:0.0:0.0	.	1712	Q7KZ85	SPT6H_HUMAN	C	1712;712	.	ENSP00000319104:S1712C	S	+	2	0	SUPT6H	24052724	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.301000	0.78850	2.554000	0.86153	0.462000	0.41574	TCC		PASS	0.637	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		4	55	4	55	---	---	---	---
CSH2	1443	broad.mit.edu	37	17	61950624	61950624	+	Missense_Mutation	SNP	G	G	T			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr17:61950624G>T	ENST00000392886.2	-	2	237	c.86C>A	c.(85-87)aCc>aAc	p.T29N	CSH2_ENST00000560142.1_Intron|CSH2_ENST00000345366.7_Missense_Mutation_p.T29N|CSH2_ENST00000336844.5_Missense_Mutation_p.T29N	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	29						extracellular region (GO:0005576)	metal ion binding (GO:0046872)	p.T29N(2)		endometrium(2)|large_intestine(1)|lung(3)	6						TAACGGAACGGTTTGGACGGC	0.602																																						uc002jch.2																			2	Substitution - Missense(2)		lung(2)		0						c.(85-87)ACC>AAC		chorionic somatomammotropin hormone 2 isoform 1							103.0	101.0	101.0					17																	61950624		2203	4300	6503	SO:0001583	missense	1443				female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61950624G>T	V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"""placental lactogen"", ""chorionic somatomammotropin B"""	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.86C>A	17.37:g.61950624G>T	ENSP00000376623:p.Thr29Asn					CSH2_uc002jcg.2_Missense_Mutation_p.T29N|CSH2_uc002jci.2_Missense_Mutation_p.T29N|GH2_uc002jcj.2_Intron|CSH2_uc002jck.2_Missense_Mutation_p.T29N	p.T29N	NM_020991	NP_066271	P01243	CSH_HUMAN			2	201	-			29					P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	ENST00000392886.2	37	c.86C>A	CCDS42369.1	.	.	.	.	.	.	.	.	.	.	g	5.345	0.248950	0.10130	.	.	ENSG00000213218	ENST00000345366;ENST00000336844;ENST00000392886	D;T;T	0.88664	-2.41;0.94;0.94	4.57	2.55	0.30701	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.761895	0.12756	N	0.441799	D	0.89466	0.6723	M	0.69248	2.105	0.19300	N	0.99997	P;B;P;P	0.37015	0.521;0.345;0.521;0.578	B;B;B;B	0.43018	0.341;0.35;0.341;0.405	T	0.79845	-0.1631	10	0.45353	T	0.12	.	13.2188	0.59875	0.0:0.168:0.832:0.0	.	29;29;29;29	P01243;A6NIT4;A8K6C2;B1A4H9	CSH_HUMAN;.;.;.	N	29	ENSP00000308396:T29N;ENSP00000338816:T29N;ENSP00000376623:T29N	ENSP00000338816:T29N	T	-	2	0	CSH2	59304356	0.964000	0.33143	0.172000	0.22920	0.000000	0.00434	1.570000	0.36439	0.370000	0.24538	-1.237000	0.01550	ACC		PASS	0.602	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417657.1	NM_020991		8	103	8	103	---	---	---	---
SNRPD1	6632	broad.mit.edu	37	18	19203843	19203843	+	Missense_Mutation	SNP	C	C	G			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr18:19203843C>G	ENST00000300413.5	+	3	389	c.226C>G	c.(226-228)Ctg>Gtg	p.L76V	SNRPD1_ENST00000582475.1_Missense_Mutation_p.L32V|SNRPD1_ENST00000579618.1_Silent_p.L33L	NM_006938.2	NP_008869.1	P62314	SMD1_HUMAN	small nuclear ribonucleoprotein D1 polypeptide 16kDa	76	Sufficient for interaction with CLNS1A.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L76V(1)		lung(2)|prostate(1)	3						CAGTTTACCTCTGGATACACT	0.378																																						uc002ktj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(226-228)CTG>GTG		small nuclear ribonucleoprotein D1 polypeptide							66.0	61.0	63.0					18																	19203843		2203	4300	6503	SO:0001583	missense	6632				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding|RNA binding	g.chr18:19203843C>G	L36188	CCDS32801.1	18q11.2	2011-10-11	2002-08-29		ENSG00000167088	ENSG00000167088			11158	protein-coding gene	gene with protein product		601063	"""small nuclear ribonucleoprotein D1 polypeptide (16kD)"""	SNRPD		7527560, 1701240	Standard	NM_006938		Approved	HsT2456, Sm-D1	uc002ktj.1	P62314		ENST00000300413.5:c.226C>G	18.37:g.19203843C>G	ENSP00000300413:p.Leu76Val						p.L76V	NM_006938	NP_008869	P62314	SMD1_HUMAN			3	357	+			76					B5BTZ1|P13641	Missense_Mutation	SNP	ENST00000300413.5	37	c.226C>G	CCDS32801.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254252	0.80135	.	.	ENSG00000167088	ENST00000300413	T	0.44881	0.91	5.21	4.33	0.51752	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.62648	0.2445	M	0.89353	3.025	0.80722	D	1	P	0.51653	0.947	P	0.55615	0.78	T	0.70403	-0.4881	10	0.87932	D	0	-8.839	11.8749	0.52541	0.0:0.9141:0.0:0.0859	.	76	P62314	SMD1_HUMAN	V	76	ENSP00000300413:L76V	ENSP00000300413:L76V	L	+	1	2	SNRPD1	17457841	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	1.828000	0.39111	1.323000	0.45263	0.585000	0.79938	CTG		PASS	0.378	SNRPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444020.2	NM_006938		11	31	11	31	---	---	---	---
HRH4	59340	broad.mit.edu	37	18	22057388	22057388	+	Missense_Mutation	SNP	G	G	T			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr18:22057388G>T	ENST00000256906.4	+	3	1135	c.1035G>T	c.(1033-1035)tgG>tgT	p.W345C	HRH4_ENST00000426880.2_Missense_Mutation_p.W257C	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	345					inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of MAPK cascade (GO:0043408)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.W345C(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Amitriptyline(DB00321)|Amoxapine(DB00543)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Mianserin(DB06148)|Olanzapine(DB00334)	TTGCATTTTGGCTTCAGTGGT	0.363																																						uc002kvi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1033-1035)TGG>TGT		histamine H4 receptor isoform 1	Clozapine(DB00363)						217.0	222.0	220.0					18																	22057388		2203	4300	6503	SO:0001583	missense	59340					integral to membrane|plasma membrane	histamine receptor activity	g.chr18:22057388G>T	AF312230	CCDS11887.1, CCDS45841.1	18q11.2	2012-08-08			ENSG00000134489	ENSG00000134489		"""GPCR / Class A : Histamine receptors"""	17383	protein-coding gene	gene with protein product		606792				11118334, 10973974	Standard	NM_021624		Approved	H4R, HH4R, AXOR35, GPCR105, GPRv53	uc002kvi.3	Q9H3N8	OTTHUMG00000131945	ENST00000256906.4:c.1035G>T	18.37:g.22057388G>T	ENSP00000256906:p.Trp345Cys					HRH4_uc010xbd.1_3'UTR|HRH4_uc010dlx.2_Missense_Mutation_p.W257C	p.W345C	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN			3	1135	+	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		345			Helical; Name=7; (Potential).		B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Missense_Mutation	SNP	ENST00000256906.4	37	c.1035G>T	CCDS11887.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267277	0.80469	.	.	ENSG00000134489	ENST00000256906;ENST00000426880	T;T	0.73789	-0.78;-0.78	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89962	0.6867	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91708	0.5379	10	0.87932	D	0	-8.3498	19.0097	0.92868	0.0:0.0:1.0:0.0	.	257;345	B2KJ48;Q9H3N8	.;HRH4_HUMAN	C	345;257	ENSP00000256906:W345C;ENSP00000402526:W257C	ENSP00000256906:W345C	W	+	3	0	HRH4	20311386	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	9.701000	0.98710	2.735000	0.93741	0.650000	0.86243	TGG		PASS	0.363	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254904.1			26	158	26	158	---	---	---	---
NOL4	8715	broad.mit.edu	37	18	31463290	31463290	+	Silent	SNP	G	G	T			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr18:31463290G>T	ENST00000261592.5	-	10	1938	c.1641C>A	c.(1639-1641)atC>atA	p.I547I	NOL4_ENST00000535384.1_Silent_p.I262I|NOL4_ENST00000269185.4_Silent_p.I331I|NOL4_ENST00000538587.1_Silent_p.I473I|NOL4_ENST00000535475.1_Silent_p.I328I|NOL4_ENST00000589544.1_Silent_p.I445I	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	547						nucleolus (GO:0005730)	RNA binding (GO:0003723)	p.I547I(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CATTTCCATTGATGTACAGCA	0.483																																						uc010dmi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1639-1641)ATC>ATA		nucleolar protein 4							193.0	161.0	172.0					18																	31463290		2203	4300	6503	SO:0001819	synonymous_variant	8715					nucleolus	RNA binding	g.chr18:31463290G>T	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1641C>A	18.37:g.31463290G>T						NOL4_uc010xbs.1_Silent_p.I262I|NOL4_uc002kxr.3_Silent_p.I319I|NOL4_uc010xbt.1_Silent_p.I473I|NOL4_uc010dmh.2_Silent_p.I409I|NOL4_uc010xbu.1_Silent_p.I483I|NOL4_uc002kxt.3_Silent_p.I445I	p.I547I	NM_003787	NP_003778	O94818	NOL4_HUMAN			10	1870	-			547					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Silent	SNP	ENST00000261592.5	37	c.1641C>A	CCDS11907.2																																																																																				PASS	0.483	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		9	101	9	101	---	---	---	---
C3	718	broad.mit.edu	37	19	6684439	6684439	+	Nonsense_Mutation	SNP	G	G	A			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr19:6684439G>A	ENST00000245907.6	-	33	4224	c.4132C>T	c.(4132-4134)Cag>Tag	p.Q1378*		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1378					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.Q1378*(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TTGGCATCCTGAGGCCTCTTT	0.478																																						uc002mfm.2																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(1)|pancreas(1)	5						c.(4132-4134)CAG>TAG		complement component 3 precursor							132.0	133.0	133.0					19																	6684439		2203	4300	6503	SO:0001587	stop_gained	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6684439G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4132C>T	19.37:g.6684439G>A	ENSP00000245907:p.Gln1378*					C3_uc002mfl.2_Nonsense_Mutation_p.Q114*	p.Q1378*	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	33	4194	-			1378					A7E236	Nonsense_Mutation	SNP	ENST00000245907.6	37	c.4132C>T	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	42	9.789214	0.99264	.	.	ENSG00000125730	ENST00000245907	.	.	.	5.05	3.99	0.46301	.	0.405669	0.27526	N	0.018965	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	12.0425	0.53460	0.0:0.1732:0.8268:0.0	.	.	.	.	X	1378	.	ENSP00000245907:Q1378X	Q	-	1	0	C3	6635439	0.930000	0.31532	1.000000	0.80357	0.610000	0.37248	0.500000	0.22562	1.239000	0.43787	0.580000	0.79431	CAG		PASS	0.478	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		10	77	10	77	---	---	---	---
ZNF20	7568	broad.mit.edu	37	19	12244329	12244329	+	Silent	SNP	C	C	T			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr19:12244329C>T	ENST00000334213.5	-	4	896	c.672G>A	c.(670-672)gtG>gtA	p.V224V	ZNF20_ENST00000485451.1_5'Flank|ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	224					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.V271V(1)|p.V224V(1)		endometrium(1)|kidney(1)|lung(6)	8						TATATGGTTTCACACCAGTGT	0.388																																						uc002mtf.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(670-672)GTG>GTA		zinc finger protein 20							100.0	108.0	105.0					19																	12244329		2193	4293	6486	SO:0001819	synonymous_variant	7568				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12244329C>T	X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"""Zinc fingers, C2H2-type"", ""-"""	12992	protein-coding gene	gene with protein product		194557	"""zinc finger protein 20 (KOX 13)"""				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.672G>A	19.37:g.12244329C>T						ZNF20_uc002mte.1_Silent_p.V189V|ZNF20_uc002mtg.1_Silent_p.V224V	p.V224V	NM_021143	NP_066966	P17024	ZNF20_HUMAN			4	815	-			224					Q8N457|Q9UG41	Silent	SNP	ENST00000334213.5	37	c.672G>A	CCDS45986.1																																																																																				PASS	0.388	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344101.1	NM_021143		25	82	25	82	---	---	---	---
BABAM1	29086	broad.mit.edu	37	19	17384808	17384808	+	Missense_Mutation	SNP	T	T	G			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr19:17384808T>G	ENST00000359435.4	+	4	633	c.440T>G	c.(439-441)gTg>gGg	p.V147G	CTD-2278I10.6_ENST00000596542.1_Missense_Mutation_p.V69G|BABAM1_ENST00000601043.1_Missense_Mutation_p.V147G|BABAM1_ENST00000448635.2_3'UTR|BABAM1_ENST00000595632.1_Intron|BABAM1_ENST00000598188.1_Missense_Mutation_p.V147G|BABAM1_ENST00000447614.2_Missense_Mutation_p.V147G	NM_001033549.1	NP_001028721.1	Q9NWV8	BABA1_HUMAN	BRISC and BRCA1 A complex member 1	147	VWFA-like.				chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V147G(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						TTTGCACTGGTGGTGGTGAAC	0.607																																						uc002nfu.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(439-441)GTG>GGG		mediator of Rap80 interactions and targeting 40							73.0	84.0	80.0					19																	17384808		2134	4241	6375	SO:0001583	missense	29086				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation	BRCA1-A complex|BRISC complex|cytoplasm	protein binding	g.chr19:17384808T>G	AK000578	CCDS46012.1, CCDS74310.1	19p13.11	2011-02-21	2011-02-21	2011-01-31	ENSG00000105393	ENSG00000105393			25008	protein-coding gene	gene with protein product	"""Mediator of Rap80 Interactions and Targeting 40 kD"", ""new component of the BRCA1 A complex"""	612766	"""chromosome 19 open reading frame 62"""	C19orf62		11042152	Standard	NM_001288756		Approved	FLJ20571, HSPC142, NBA1, MERIT40	uc002nfv.3	Q9NWV8		ENST00000359435.4:c.440T>G	19.37:g.17384808T>G	ENSP00000352408:p.Val147Gly					C19orf62_uc010xpl.1_Intron|C19orf62_uc002nfv.2_Missense_Mutation_p.V147G|C19orf62_uc010ean.2_RNA|C19orf62_uc002nfw.2_Missense_Mutation_p.V147G	p.V147G	NM_014173	NP_054892	Q9NWV8	BABA1_HUMAN			4	558	+			147			VWFA-like.		A8MQT0|B4DRY9|B4DVR1|Q6FIA0|Q9P018	Missense_Mutation	SNP	ENST00000359435.4	37	c.440T>G	CCDS46012.1	.	.	.	.	.	.	.	.	.	.	T	18.67	3.674170	0.67928	.	.	ENSG00000105393	ENST00000359435;ENST00000447614;ENST00000300965	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.62208	0.2409	M	0.62723	1.935	0.80722	D	1	P	0.44946	0.846	P	0.46208	0.507	T	0.67173	-0.5737	9	0.87932	D	0	-29.4542	14.0935	0.65006	0.0:0.0:0.0:1.0	.	147	Q9NWV8	BABA1_HUMAN	G	147;147;69	.	ENSP00000300965:V69G	V	+	2	0	BABAM1	17245808	1.000000	0.71417	1.000000	0.80357	0.247000	0.25773	7.228000	0.78079	2.218000	0.71995	0.459000	0.35465	GTG		PASS	0.607	BABAM1-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463471.1	NM_014173		3	34	3	34	---	---	---	---
ZNF780B	163131	broad.mit.edu	37	19	40540887	40540887	+	Nonsense_Mutation	SNP	G	G	A			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr19:40540887G>A	ENST00000434248.1	-	5	1944	c.1879C>T	c.(1879-1881)Cag>Tag	p.Q627*	ZNF780B_ENST00000221355.6_Nonsense_Mutation_p.Q479*	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	627					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q627*(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGATTAAGCTGGGTGTGAAGA	0.403																																						uc002omu.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1879-1881)CAG>TAG		zinc finger protein 780B							120.0	127.0	124.0					19																	40540887		2203	4299	6502	SO:0001587	stop_gained	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40540887G>A	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.1879C>T	19.37:g.40540887G>A	ENSP00000391641:p.Gln627*					ZNF780B_uc002omv.2_Nonsense_Mutation_p.Q479*	p.Q627*	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN			5	1944	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		627			C2H2-type 17.		B9EH00	Nonsense_Mutation	SNP	ENST00000434248.1	37	c.1879C>T	CCDS46077.1	.	.	.	.	.	.	.	.	.	.	g	18.50	3.638510	0.67130	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	.	.	.	2.56	-0.191	0.13252	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	5.0177	0.14345	0.1412:0.3839:0.4749:0.0	.	.	.	.	X	627;479	.	ENSP00000221355:Q479X	Q	-	1	0	ZNF780B	45232727	0.000000	0.05858	0.002000	0.10522	0.168000	0.22595	-1.932000	0.01554	0.245000	0.21373	0.462000	0.41574	CAG		PASS	0.403	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		13	92	13	92	---	---	---	---
C19orf47	126526	broad.mit.edu	37	19	40827975	40827975	+	Silent	SNP	A	A	C			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr19:40827975A>C	ENST00000582783.1	-	9	1095	c.1083T>G	c.(1081-1083)ctT>ctG	p.L361L	C19orf47_ENST00000392035.2_Silent_p.L294L|C19orf47_ENST00000584868.1_5'UTR	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	361						nucleus (GO:0005634)		p.L361L(1)|p.L294L(1)		endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			CCTCGGGCACAAGGGCAGCTG	0.622																																						uc002oni.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(1081-1083)CTT>CTG		hypothetical protein LOC126526							51.0	45.0	47.0					19																	40827975		2203	4300	6503	SO:0001819	synonymous_variant	126526							g.chr19:40827975A>C	AL834131	CCDS58662.1	19q13.2	2012-07-20			ENSG00000160392	ENSG00000160392			26723	protein-coding gene	gene with protein product						12477932	Standard	NM_001256440		Approved	FLJ36888	uc002oni.5	Q8N9M1	OTTHUMG00000179028	ENST00000582783.1:c.1083T>G	19.37:g.40827975A>C						C19orf47_uc002ong.2_Silent_p.L220L|C19orf47_uc002onh.2_Silent_p.L294L	p.L361L	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	Lung(22;0.000636)		9	1084	-			361					Q8IZ33|Q8N0V9	Silent	SNP	ENST00000582783.1	37	c.1083T>G	CCDS58662.1																																																																																				PASS	0.622	C19orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444488.1	NM_178830		9	23	9	23	---	---	---	---
CLPTM1	1209	broad.mit.edu	37	19	45490529	45490529	+	Nonsense_Mutation	SNP	G	G	T	rs199925354		TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr19:45490529G>T	ENST00000337392.5	+	8	1036	c.886G>T	c.(886-888)Gag>Tag	p.E296*	CLPTM1_ENST00000589158.1_3'UTR|CLPTM1_ENST00000546079.1_Nonsense_Mutation_p.E194*|CLPTM1_ENST00000541297.2_Nonsense_Mutation_p.E282*	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	296					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.E296*(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CCCCATCAACGAGAGCCTGGC	0.577																																						uc002pai.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(886-888)GAG>TAG		cleft lip and palate associated transmembrane							116.0	122.0	120.0					19																	45490529		2203	4300	6503	SO:0001587	stop_gained	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45490529G>T	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.886G>T	19.37:g.45490529G>T	ENSP00000336994:p.Glu296*					CLPTM1_uc010ejv.1_Nonsense_Mutation_p.E194*|CLPTM1_uc010xxf.1_Nonsense_Mutation_p.E194*|CLPTM1_uc010xxg.1_Nonsense_Mutation_p.E282*	p.E296*	NM_001294	NP_001285	O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	8	901	+		all_neural(266;0.224)|Ovarian(192;0.231)	296			Extracellular (Potential).		B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Nonsense_Mutation	SNP	ENST00000337392.5	37	c.886G>T	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	G	31	5.101394	0.94245	.	.	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	4.64	4.64	0.57946	.	0.195932	0.46145	D	0.000313	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-31.6462	8.6519	0.34040	0.1022:0.0:0.8978:0.0	.	.	.	.	X	194;282;296;296	.	ENSP00000336994:E296X	E	+	1	0	CLPTM1	50182369	1.000000	0.71417	0.997000	0.53966	0.708000	0.40852	7.299000	0.78831	2.426000	0.82243	0.558000	0.71614	GAG		PASS	0.577	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		12	97	12	97	---	---	---	---
NUP62	23636	broad.mit.edu	37	19	50412425	50412425	+	Missense_Mutation	SNP	T	T	C			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr19:50412425T>C	ENST00000596217.1	-	2	2527	c.640A>G	c.(640-642)Atc>Gtc	p.I214V	NUP62_ENST00000352066.3_Missense_Mutation_p.I214V|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000597723.1_Missense_Mutation_p.I214V|NUP62_ENST00000597029.1_Missense_Mutation_p.I214V|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000413454.1_Missense_Mutation_p.I214V|NUP62_ENST00000422090.2_Missense_Mutation_p.I214V|IL4I1_ENST00000341114.3_Intron			P37198	NUP62_HUMAN	nucleoporin 62kDa	214	15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)	p.I214V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTGCTGGTGATGGTGGCTGTG	0.647																																						uc002pqx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(640-642)ATC>GTC		nucleoporin 62kDa							81.0	77.0	78.0					19																	50412425		2203	4300	6503	SO:0001583	missense	23636				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	g.chr19:50412425T>C	X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.640A>G	19.37:g.50412425T>C	ENSP00000471191:p.Ile214Val					IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Missense_Mutation_p.I214V|NUP62_uc002pqz.2_Missense_Mutation_p.I214V|NUP62_uc002pra.2_Missense_Mutation_p.I214V|NUP62_uc002prb.2_Missense_Mutation_p.I214V|NUP62_uc002prc.2_Missense_Mutation_p.I214V	p.I214V	NM_153719	NP_714941	P37198	NUP62_HUMAN		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	744	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	214			15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	ENST00000596217.1	37	c.640A>G	CCDS12788.1	.	.	.	.	.	.	.	.	.	.	T	6.513	0.462838	0.12402	.	.	ENSG00000213024	ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.34859	1.34;1.34;1.34	5.18	3.09	0.35607	Nucleoporin, NSP1-like, C-terminal (1);	0.087529	0.45126	U	0.000382	T	0.15912	0.0383	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22730	-1.0208	9	.	.	.	-3.5317	7.128	0.25484	0.0:0.1837:0.0:0.8163	.	214	P37198	NUP62_HUMAN	V	214	ENSP00000305503:I214V;ENSP00000407331:I214V;ENSP00000387991:I214V	.	I	-	1	0	NUP62	55104237	0.009000	0.17119	0.946000	0.38457	0.031000	0.12232	-0.700000	0.05081	0.497000	0.27926	0.533000	0.62120	ATC		PASS	0.647	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		6	79	6	79	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55143939	55143939	+	Nonsense_Mutation	SNP	C	C	G			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr19:55143939C>G	ENST00000396331.1	+	7	1043	c.686C>G	c.(685-687)tCa>tGa	p.S229*	LILRB1_ENST00000396332.4_Nonsense_Mutation_p.S229*|LILRB1_ENST00000434867.2_Nonsense_Mutation_p.S229*|LILRB1_ENST00000418536.2_Nonsense_Mutation_p.S229*|LILRB1_ENST00000396321.2_Nonsense_Mutation_p.S229*|LILRB1_ENST00000396317.1_Nonsense_Mutation_p.S229*|LILRB1_ENST00000324602.7_Nonsense_Mutation_p.S229*|LILRB1_ENST00000448689.1_Nonsense_Mutation_p.S229*|LILRB1_ENST00000396327.3_Nonsense_Mutation_p.S229*|LILRB1_ENST00000427581.2_Nonsense_Mutation_p.S265*|LILRB1_ENST00000396315.1_Nonsense_Mutation_p.S229*	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	229	Ig-like C2-type 3.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)	p.S229*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCATCACTCTCAGTGCAGCCA	0.557										HNSCC(37;0.09)																												uc002qgj.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(685-687)TCA>TGA		leukocyte immunoglobulin-like receptor,							95.0	99.0	98.0					19																	55143939		2203	4300	6503	SO:0001587	stop_gained	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143939C>G	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.686C>G	19.37:g.55143939C>G	ENSP00000379622:p.Ser229*	HNSCC(37;0.09)				LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Nonsense_Mutation_p.S229*|LILRB1_uc002qgk.2_Nonsense_Mutation_p.S229*|LILRB1_uc002qgm.2_Nonsense_Mutation_p.S229*|LILRB1_uc010erq.2_Nonsense_Mutation_p.S229*|LILRB1_uc010err.2_RNA	p.S229*	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	7	1026	+			229			Ig-like C2-type 3.|Extracellular (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Nonsense_Mutation	SNP	ENST00000396331.1	37	c.686C>G	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986228	0.35036	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	.	.	.	1.81	-0.832	0.10785	.	1.647220	0.04024	N	0.300228	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.613	0.02698	0.294:0.2053:0.0:0.5007	.	.	.	.	X	229;229;229;229;229;229;229;229;265;229;229	.	ENSP00000315997:S229X	S	+	2	0	LILRB1	59835751	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.108000	0.03313	-0.253000	0.09514	0.184000	0.17185	TCA		PASS	0.557	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			3	62	3	62	---	---	---	---
PTPRH	5794	broad.mit.edu	37	19	55708712	55708712	+	Missense_Mutation	SNP	G	G	A			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr19:55708712G>A	ENST00000376350.3	-	9	1785	c.1763C>T	c.(1762-1764)cCt>cTt	p.P588L	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.P410L	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	588	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P588L(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GGGGTCTCCAGGGGCCTTCCA	0.557																																						uc002qjq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(1762-1764)CCT>CTT		protein tyrosine phosphatase, receptor type, H							69.0	72.0	71.0					19																	55708712		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55708712G>A		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1763C>T	19.37:g.55708712G>A	ENSP00000365528:p.Pro588Leu					PTPRH_uc010esv.2_Missense_Mutation_p.P410L|PTPRH_uc002qjs.2_Missense_Mutation_p.P595L	p.P588L	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	9	1836	-		Renal(1328;0.245)	588			Extracellular (Potential).|Fibronectin type-III 7.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.1763C>T	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618867	0.46736	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.74315	-0.83;-0.83	5.18	4.13	0.48395	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.32357	N	0.006204	D	0.84515	0.5489	M	0.79123	2.44	0.23430	N	0.997693	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	T	0.76157	-0.3062	10	0.49607	T	0.09	.	11.6248	0.51138	0.0:0.0:0.8229:0.1771	.	410;410;588	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	L	588;410	ENSP00000365528:P588L;ENSP00000263434:P410L	ENSP00000263434:P410L	P	-	2	0	PTPRH	60400524	0.830000	0.29337	0.056000	0.19401	0.004000	0.04260	2.681000	0.46926	1.303000	0.44873	0.655000	0.94253	CCT		PASS	0.557	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			9	33	9	33	---	---	---	---
CTSA	5476	broad.mit.edu	37	20	44523469	44523469	+	Missense_Mutation	SNP	A	A	G			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr20:44523469A>G	ENST00000372459.2	+	9	1070	c.877A>G	c.(877-879)Aag>Gag	p.K293E	CTSA_ENST00000354880.5_Missense_Mutation_p.K294E|CTSA_ENST00000191018.5_Missense_Mutation_p.K293E|RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000372484.3_Missense_Mutation_p.K311E			P10619	PPGB_HUMAN	cathepsin A	293					glycosphingolipid metabolic process (GO:0006687)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|enzyme activator activity (GO:0008047)|serine-type carboxypeptidase activity (GO:0004185)	p.K311E(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CAGGTATGAGAAGGACACTGT	0.597																																						uc002xqj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(877-879)AAG>GAG		cathepsin A isoform b precursor							179.0	156.0	164.0					20																	44523469		2203	4300	6503	SO:0001583	missense	5476				intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity	g.chr20:44523469A>G	M22960	CCDS13385.2, CCDS46609.1, CCDS54467.1	20q13.12	2012-02-10	2006-12-05	2006-12-05	ENSG00000064601	ENSG00000064601	3.4.16.5	"""Cathepsins"""	9251	protein-coding gene	gene with protein product	"""carboxypeptidase C"", ""lysosomal protective protein"", ""carboxypeptidase-L"", ""carboxypeptidase Y-like kininase"", ""deamidase"", ""lysosomal carboxypeptidase A"", ""urinary kininase"""	613111	"""protective protein for beta-galactosidase (galactosialidosis)"""	GSL, PPGB		2071143	Standard	NM_000308		Approved		uc002xqh.3	P10619	OTTHUMG00000033078	ENST00000372459.2:c.877A>G	20.37:g.44523469A>G	ENSP00000361537:p.Lys293Glu					CTSA_uc002xqh.2_Missense_Mutation_p.K311E|CTSA_uc002xqi.2_RNA|CTSA_uc010zxi.1_Missense_Mutation_p.K294E|CTSA_uc002xqk.3_Missense_Mutation_p.K293E	p.K293E	NM_001127695	NP_001121167	P10619	PPGB_HUMAN			10	1351	+		Myeloproliferative disorder(115;0.0122)	293					B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	Missense_Mutation	SNP	ENST00000372459.2	37	c.877A>G	CCDS46609.1	.	.	.	.	.	.	.	.	.	.	A	1.652	-0.513624	0.04200	.	.	ENSG00000064601	ENST00000354880;ENST00000372484;ENST00000191018;ENST00000419493	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	3.72	1.43	0.22495	.	1.188780	0.05965	N	0.641234	T	0.44787	0.1310	N	0.10685	0.025	0.09310	N	1	B;B;B	0.16396	0.003;0.017;0.017	B;B;B	0.14023	0.003;0.006;0.01	T	0.33137	-0.9880	10	0.02654	T	1	-9.6489	5.9845	0.19426	0.562:0.0:0.438:0.0	.	293;293;310	B4E324;P10619;Q59EV6	.;PPGB_HUMAN;.	E	294;311;293;276	ENSP00000346952:K294E;ENSP00000361562:K311E;ENSP00000191018:K293E;ENSP00000408533:K276E	ENSP00000191018:K293E	K	+	1	0	CTSA	43956876	0.000000	0.05858	0.032000	0.17829	0.336000	0.28762	0.208000	0.17415	0.088000	0.17205	-0.451000	0.05528	AAG		PASS	0.597	CTSA-012	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471297.2	NM_000308		12	115	12	115	---	---	---	---
TMPRSS15	5651	broad.mit.edu	37	21	19715877	19715877	+	Silent	SNP	A	A	G			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr21:19715877A>G	ENST00000284885.3	-	12	1407	c.1374T>C	c.(1372-1374)taT>taC	p.Y458Y		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	458	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.Y458Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AATTGTCTCCATAATTTCCTT	0.294																																						uc002ykw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						c.(1372-1374)TAT>TAC		enterokinase precursor							93.0	79.0	84.0					21																	19715877		2201	4294	6495	SO:0001819	synonymous_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19715877A>G		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1374T>C	21.37:g.19715877A>G							p.Y458Y	NM_002772	NP_002763	P98073	ENTK_HUMAN			12	1405	-			458			Extracellular (Potential).|MAM.		Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.1374T>C	CCDS13571.1																																																																																				PASS	0.294	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		6	70	6	70	---	---	---	---
DSCR3	10311	broad.mit.edu	37	21	38593815	38593815	+	IGR	SNP	T	T	C			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr21:38593815T>C	ENST00000309117.6	-	0	3256				DSCR9_ENST00000454482.2_lincRNA|DSCR3_ENST00000399000.3_5'Flank|AP001432.14_ENST00000440629.1_lincRNA	NM_006052.1	NP_006043.1	O14972	DSCR3_HUMAN	Down syndrome critical region gene 3							nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						AAGAAGGTGATTCAGATTCAG	0.522																																						uc010gnk.2																			0					0								Homo sapiens mRNA, complete cds.							137.0	135.0	135.0					21																	38593815		2203	4300	6503	SO:0001628	intergenic_variant	257203							g.chr21:38593815T>C	D87343	CCDS33553.1	21q22.2	2008-05-22			ENSG00000157538	ENSG00000157538			3044	protein-coding gene	gene with protein product		605298				9399594	Standard	NM_006052		Approved	DCRA	uc002ywf.1	O14972	OTTHUMG00000086659		21.37:g.38593815T>C														1		+								B2R6T8|B7Z6B1|D3DSH4|Q2TAY6	RNA	SNP	ENST00000309117.6	37	c.927T>C	CCDS33553.1																																																																																				PASS	0.522	DSCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194807.1			8	93	8	93	---	---	---	---
PLXNB2	23654	broad.mit.edu	37	22	50717382	50717382	+	Missense_Mutation	SNP	T	T	A			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr22:50717382T>A	ENST00000449103.1	-	28	4588	c.4448A>T	c.(4447-4449)aAc>aTc	p.N1483I	PLXNB2_ENST00000359337.4_Missense_Mutation_p.N1483I			O15031	PLXB2_HUMAN	plexin B2	1483					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)	p.N1526I(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGTGTCACAGTTGAGGACCTT	0.632																																						uc003bkv.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4447-4449)AAC>ATC		plexin B2 precursor							119.0	124.0	123.0					22																	50717382		2198	4299	6497	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50717382T>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4448A>T	22.37:g.50717382T>A	ENSP00000409171:p.Asn1483Ile					PLXNB2_uc003bkt.1_Missense_Mutation_p.N275I|PLXNB2_uc003bku.1_Missense_Mutation_p.N468I	p.N1483I	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	28	4554	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1483			Cytoplasmic (Potential).		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.4448A>T	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	T	19.63	3.864409	0.71949	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000399964	T;T	0.12984	2.63;2.63	4.27	4.27	0.50696	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.41119	0.1145	M	0.85462	2.755	0.48571	D	0.999672	D	0.89917	1.0	D	0.85130	0.997	T	0.48479	-0.9032	10	0.87932	D	0	.	13.8218	0.63325	0.0:0.0:0.0:1.0	.	1483	O15031	PLXB2_HUMAN	I	1483;1483;115	ENSP00000409171:N1483I;ENSP00000352288:N1483I	ENSP00000352288:N1483I	N	-	2	0	PLXNB2	49059509	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	3.813000	0.55636	1.910000	0.55303	0.374000	0.22700	AAC		PASS	0.632	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		10	23	10	23	---	---	---	---
CHKB	1120	broad.mit.edu	37	22	51019077	51019077	+	Silent	SNP	C	C	T			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr22:51019077C>T	ENST00000406938.2	-	5	811	c.594G>A	c.(592-594)caG>caA	p.Q198Q	CPT1B_ENST00000395650.2_5'Flank|CPT1B_ENST00000360719.2_5'Flank|CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000457250.1_5'Flank|CHKB_ENST00000463053.1_5'UTR|CHKB-AS1_ENST00000380711.3_RNA|CHKB-CPT1B_ENST00000453634.1_5'Flank|CPT1B_ENST00000405237.3_5'Flank|CPT1B_ENST00000434492.2_5'Flank|CPT1B_ENST00000440709.1_5'Flank|CPT1B_ENST00000312108.7_5'Flank	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	198					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline kinase activity (GO:0004103)|ethanolamine kinase activity (GO:0004305)	p.Q198Q(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	GGTCCTGGATCTGTTTTAGGT	0.562																																						uc003bms.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(592-594)CAG>CAA		choline kinase beta	Choline(DB00122)						81.0	71.0	74.0					22																	51019077		2203	4300	6503	SO:0001819	synonymous_variant	1120				phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity	g.chr22:51019077C>T	AB029886	CCDS14099.1	22q13.33	2011-02-16	2004-04-19	2004-04-19	ENSG00000100288	ENSG00000100288			1938	protein-coding gene	gene with protein product		612395	"""choline kinase-like"""	CHKL		9224698, 15003397	Standard	NM_005198		Approved	CHETK	uc003bmv.3	Q9Y259	OTTHUMG00000150275	ENST00000406938.2:c.594G>A	22.37:g.51019077C>T						CPT1B_uc003bmk.3_5'Flank|CPT1B_uc003bml.2_5'Flank|CPT1B_uc003bmm.2_5'Flank|CPT1B_uc003bmo.2_5'Flank|CPT1B_uc011asa.1_5'Flank|CPT1B_uc003bmn.2_5'Flank|CPT1B_uc011asb.1_5'Flank|CHKB-CPT1B_uc003bmp.2_5'Flank|CHKB-CPT1B_uc003bmt.1_5'UTR|CHKB-CPT1B_uc003bmu.2_Silent_p.Q77Q|CHKB_uc003bmv.2_Silent_p.Q198Q|LOC100144603_uc003bmw.3_5'Flank	p.Q198Q	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	5	812	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	198					A0PJM6|Q13388	Silent	SNP	ENST00000406938.2	37	c.594G>A	CCDS14099.1																																																																																				PASS	0.562	CHKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317267.3	NM_005198		5	48	5	48	---	---	---	---
FAM47C	442444	broad.mit.edu	37	X	37028784	37028784	+	Silent	SNP	T	T	A			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chrX:37028784T>A	ENST00000358047.3	+	1	2353	c.2301T>A	c.(2299-2301)ccT>ccA	p.P767P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	767								p.P767P(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CGGAGCCTCCTGAGACTGGAG	0.632																																						uc004ddl.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(2299-2301)CCT>CCA		hypothetical protein LOC442444							42.0	41.0	42.0					X																	37028784		2202	4300	6502	SO:0001819	synonymous_variant	442444							g.chrX:37028784T>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2301T>A	X.37:g.37028784T>A							p.P767P	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	2315	+			767					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.2301T>A	CCDS35227.1																																																																																				PASS	0.632	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		10	22	10	22	---	---	---	---
MAGEE1	57692	broad.mit.edu	37	X	75649243	75649243	+	Missense_Mutation	SNP	C	C	T			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chrX:75649243C>T	ENST00000361470.2	+	1	1198	c.920C>T	c.(919-921)tCc>tTc	p.S307F		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	307	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.S307F(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CTGAGCACCTCCGTGCAGCCC	0.701																																						uc004ecm.1																			2	Substitution - Missense(2)		lung(2)	breast(3)|ovary(1)|pancreas(1)|skin(1)	6						c.(919-921)TCC>TTC		melanoma antigen family E, 1							22.0	21.0	21.0					X																	75649243		2202	4295	6497	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75649243C>T	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.920C>T	X.37:g.75649243C>T	ENSP00000354912:p.Ser307Phe						p.S307F	NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN			1	1127	+			307			Pro-rich.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.920C>T	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	C	9.170	1.021001	0.19433	.	.	ENSG00000198934	ENST00000361470	T	0.28454	1.61	1.61	0.668	0.17912	.	.	.	.	.	T	0.14356	0.0347	L	0.27053	0.805	0.09310	N	1	P	0.44690	0.841	B	0.25884	0.064	T	0.10989	-1.0606	9	0.51188	T	0.08	.	7.3579	0.26729	0.0:0.7306:0.2694:0.0	.	307	Q9HCI5	MAGE1_HUMAN	F	307	ENSP00000354912:S307F	ENSP00000354912:S307F	S	+	2	0	MAGEE1	75565647	0.000000	0.05858	0.059000	0.19551	0.028000	0.11728	0.015000	0.13355	0.123000	0.18342	0.436000	0.28706	TCC		PASS	0.701	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		8	4	8	4	---	---	---	---
P2RY10	27334	broad.mit.edu	37	X	78216453	78216453	+	Missense_Mutation	SNP	C	C	G			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chrX:78216453C>G	ENST00000171757.2	+	4	716	c.436C>G	c.(436-438)Cgt>Ggt	p.R146G	P2RY10_ENST00000475374.1_3'UTR|P2RY10_ENST00000544091.1_Missense_Mutation_p.R146G	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.R146G(1)|p.R146C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						AGACTGGAAGCGTAGGTACGA	0.488																																						uc004ede.2																			2	Substitution - Missense(2)		lung(1)|breast(1)	ovary(2)|lung(2)|breast(1)	5						c.(436-438)CGT>GGT		G-protein coupled purinergic receptor P2Y10							105.0	95.0	98.0					X																	78216453		2203	4300	6503	SO:0001583	missense	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216453C>G	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.436C>G	X.37:g.78216453C>G	ENSP00000171757:p.Arg146Gly					P2RY10_uc004edf.2_Missense_Mutation_p.R146G	p.R146G	NM_014499	NP_055314	O00398	P2Y10_HUMAN			4	805	+			146			Cytoplasmic (Potential).		D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	c.436C>G	CCDS14442.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.733583	0.30684	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.72505	-0.66;-0.66	4.6	4.6	0.57074	GPCR, rhodopsin-like superfamily (1);	0.129634	0.52532	D	0.000064	T	0.78168	0.4241	M	0.82433	2.59	0.46167	D	0.9989	B	0.26577	0.153	B	0.38500	0.275	T	0.79685	-0.1700	10	0.56958	D	0.05	.	15.1859	0.73002	0.0:1.0:0.0:0.0	.	146	O00398	P2Y10_HUMAN	G	146	ENSP00000443138:R146G;ENSP00000171757:R146G	ENSP00000171757:R146G	R	+	1	0	P2RY10	78103109	1.000000	0.71417	0.999000	0.59377	0.002000	0.02628	4.557000	0.60782	2.142000	0.66516	0.287000	0.19450	CGT		PASS	0.488	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			18	34	18	34	---	---	---	---
DOCK11	139818	broad.mit.edu	37	X	117788715	117788715	+	Missense_Mutation	SNP	G	G	C			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chrX:117788715G>C	ENST00000276202.7	+	43	4909	c.4846G>C	c.(4846-4848)Gag>Cag	p.E1616Q	DOCK11_ENST00000276204.6_Missense_Mutation_p.E1616Q	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1616	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E1616Q(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AAGCACCCCAGAGCTCAGGAA	0.428																																						uc004eqp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(4846-4848)GAG>CAG		dedicator of cytokinesis 11							95.0	88.0	90.0					X																	117788715		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117788715G>C	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.4846G>C	X.37:g.117788715G>C	ENSP00000276202:p.Glu1616Gln					DOCK11_uc004eqq.2_Missense_Mutation_p.E1395Q	p.E1616Q	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			43	4909	+			1616			DHR-2.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.4846G>C	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738449	0.69304	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.19669	2.13;2.13	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.38639	0.1048	M	0.74389	2.26	0.80722	D	1	P;P	0.46142	0.873;0.873	P;P	0.50109	0.631;0.631	T	0.38845	-0.9642	10	0.66056	D	0.02	-11.7364	17.2319	0.86987	0.0:0.0:1.0:0.0	.	1616;1616	A6NIW2;Q5JSL3	.;DOC11_HUMAN	Q	1616	ENSP00000276204:E1616Q;ENSP00000276202:E1616Q	ENSP00000276202:E1616Q	E	+	1	0	DOCK11	117672743	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.467000	0.97671	1.990000	0.58119	0.600000	0.82982	GAG		PASS	0.428	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		16	30	16	30	---	---	---	---
GRIA3	2892	broad.mit.edu	37	X	122528848	122528848	+	Silent	SNP	C	C	A			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chrX:122528848C>A	ENST00000371251.1	+	6	832	c.780C>A	c.(778-780)gtC>gtA	p.V260V	GRIA3_ENST00000541091.1_Silent_p.V244V|GRIA3_ENST00000264357.5_Silent_p.V260V|GRIA3_ENST00000371256.5_Silent_p.V260V|GRIA3_ENST00000542149.1_Silent_p.V260V			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	260					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)	p.V260V(3)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	TGGAAAGAGTCATGCATGGGG	0.433																																						uc004etq.3																			3	Substitution - coding silent(3)		lung(3)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(778-780)GTC>GTA		glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)						103.0	93.0	97.0					X																	122528848		2203	4300	6503	SO:0001819	synonymous_variant	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122528848C>A	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.780C>A	X.37:g.122528848C>A						GRIA3_uc004etr.3_Silent_p.V260V|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Silent_p.V244V	p.V260V	NM_007325	NP_015564	P42263	GRIA3_HUMAN			7	1073	+			260			Extracellular (Potential).		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	SNP	ENST00000371251.1	37	c.780C>A	CCDS14604.1																																																																																				PASS	0.433	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		8	27	8	27	---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129159314	129159314	+	Silent	SNP	G	G	A			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chrX:129159314G>A	ENST00000218147.7	+	7	4235	c.4038G>A	c.(4036-4038)ctG>ctA	p.L1346L	BCORL1_ENST00000359304.2_Intron|BCORL1_ENST00000540052.1_Silent_p.L1346L|BCORL1_ENST00000303743.5_Silent_p.L1346L			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1346					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L1346L(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGGAGTACCTGACAGAGCAAG	0.597																																						uc004evb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(2)|lung(1)	7						c.(4036-4038)CTG>CTA		BCL6 co-repressor-like 1							75.0	72.0	73.0					X																	129159314		2203	4297	6500	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129159314G>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4038G>A	X.37:g.129159314G>A						BCORL1_uc010nrd.1_Intron|BCORL1_uc004evc.1_Silent_p.L108L	p.L1346L	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			7	4152	+			1346					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.4038G>A	CCDS14616.1																																																																																				PASS	0.597	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		16	14	16	14	---	---	---	---
MAPKAPK2	9261	broad.mit.edu	37	1	206858676	206858678	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-56-5897-01A-11D-1632-08	TCGA-56-5897-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	056acb55-f3ba-4ce0-9735-3cfe6516df55	61551313-41c7-4703-897a-8f1e2ecc2ece	g.chr1:206858676_206858678delGCC	ENST00000367103.3	+	1	295_297	c.102_104delGCC	c.(100-105)cagccg>cag	p.P40del	MAPKAPK2_ENST00000294981.4_In_Frame_Del_p.P40del	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	40	Poly-Pro.|Pro-rich.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			ccccggcgcagccgccgccgccg	0.729																																						uc001hem.1																			0					0						c.(100-105)CAGCCG>CAG		mitogen-activated protein kinase-activated			,	167,4,3953		6,0,155,1,2,1898					,	-5.2	0.0			6	431,34,7567		13,0,405,2,30,3566	no	codingComplex,codingComplex	MAPKAPK2	NM_032960.3,NM_004759.4	,	19,0,560,3,32,5464	A1A1,A1A2,A1R,A2A2,A2R,RR		5.7893,4.1465,5.232	,	,		598,38,11520				SO:0001651	inframe_deletion	9261				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr1:206858676_206858678delGCC	U12779	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			ENSG00000162889	ENSG00000162889			6887	protein-coding gene	gene with protein product		602006				8179591, 8280084	Standard	NM_004759		Approved		uc001hem.2	P49137	OTTHUMG00000036342	ENST00000367103.3:c.102_104delGCC	1.37:g.206858685_206858687delGCC	ENSP00000356070:p.Pro40del					MAPKAPK2_uc001hel.1_In_Frame_Del_p.P40del	p.P40del	NM_032960	NP_116584	P49137	MAPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		1	388_390	+	Breast(84;0.183)		40			Pro-rich.|Poly-Pro.		Q5SY30|Q5SY41|Q8IYD6	In_Frame_Del	DEL	ENST00000367103.3	37	c.102_104delGCC	CCDS31001.1																																																																																					0.729	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088465.1	NM_004759		4	2	4	2	---	---	---	---
