#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
VPS13D	55187	broad.mit.edu	37	1	12318100	12318100	+	Silent	SNP	A	A	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr1:12318100A>G	ENST00000358136.3	+	10	1180	c.1050A>G	c.(1048-1050)gtA>gtG	p.V350V	VPS13D_ENST00000356315.4_Silent_p.V350V	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.V350V(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GTGATGCTGTATCTTACACTG	0.428																																						uc001atv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(1048-1050)GTA>GTG		vacuolar protein sorting 13D isoform 1							169.0	148.0	155.0					1																	12318100		2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12318100A>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.1050A>G	1.37:g.12318100A>G						VPS13D_uc001atw.2_Silent_p.V350V	p.V350V	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	10	1191	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	350						Silent	SNP	ENST00000358136.3	37	c.1050A>G	CCDS30588.1																																																																																				PASS	0.428	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		39	36	39	36	---	---	---	---
LAPTM5	7805	broad.mit.edu	37	1	31212756	31212756	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr1:31212756A>G	ENST00000294507.3	-	4	361	c.287T>C	c.(286-288)cTg>cCg	p.L96P	LAPTM5_ENST00000476492.1_5'Flank|MIR4420_ENST00000583944.1_RNA	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	96					transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)		p.L96P(1)		large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		TTGCAGGGACAGGAAGGGCAG	0.607																																						uc001bsc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(286-288)CTG>CCG		lysosomal protein transmembrane 5							155.0	116.0	129.0					1																	31212756		2203	4300	6503	SO:0001583	missense	7805				transport	integral to plasma membrane|lysosomal membrane		g.chr1:31212756A>G	U51240	CCDS337.1	1p34	2009-07-20	2009-07-20		ENSG00000162511	ENSG00000162511			29612	protein-coding gene	gene with protein product		601476	"""lysosomal multispanning membrane protein 5"""			8661146, 12527926	Standard	NM_006762		Approved		uc001bsc.2	Q13571	OTTHUMG00000003707	ENST00000294507.3:c.287T>C	1.37:g.31212756A>G	ENSP00000294507:p.Leu96Pro						p.L96P	NM_006762	NP_006753	Q13571	LAPM5_HUMAN		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)	4	378	-		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)	96			Helical; (Potential).		Q13240|Q14698|Q3KP54	Missense_Mutation	SNP	ENST00000294507.3	37	c.287T>C	CCDS337.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.117926	0.77323	.	.	ENSG00000162511	ENST00000294507;ENST00000424259	T	0.57752	0.38	5.82	5.82	0.92795	.	0.098933	0.44097	D	0.000492	T	0.70245	0.3202	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.73500	-0.3963	10	0.72032	D	0.01	-14.9504	12.5782	0.56375	1.0:0.0:0.0:0.0	.	96	Q13571	LAPM5_HUMAN	P	96	ENSP00000294507:L96P	ENSP00000294507:L96P	L	-	2	0	LAPTM5	30985343	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.126000	0.64721	2.225000	0.72522	0.533000	0.62120	CTG		PASS	0.607	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010463.1	NM_006762		8	13	8	13	---	---	---	---
ZSCAN20	7579	broad.mit.edu	37	1	33945088	33945088	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr1:33945088G>T	ENST00000361328.3	+	2	352	c.199G>T	c.(199-201)Gag>Tag	p.E67*	ZSCAN20_ENST00000373413.2_Nonsense_Mutation_p.E67*|ZSCAN20_ENST00000480917.1_3'UTR	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	67	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E67*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGGACCCCACGAGGCCTTCAG	0.612																																						uc001bxj.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(199-201)GAG>TAG		zinc finger protein 31							35.0	39.0	38.0					1																	33945088		2131	4260	6391	SO:0001587	stop_gained	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33945088G>T	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.199G>T	1.37:g.33945088G>T	ENSP00000355053:p.Glu67*					ZSCAN20_uc001bxk.2_Nonsense_Mutation_p.E67*|ZSCAN20_uc009vui.2_Nonsense_Mutation_p.E67*	p.E67*	NM_145238	NP_660281	P17040	ZSC20_HUMAN			2	366	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	67			SCAN box.		A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Nonsense_Mutation	SNP	ENST00000361328.3	37	c.199G>T	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	G	33	5.210334	0.95069	.	.	ENSG00000121903	ENST00000373411;ENST00000326544;ENST00000373413	.	.	.	5.11	4.16	0.48862	.	0.131761	0.34652	N	0.003793	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-30.8529	13.4158	0.60968	0.0:0.1704:0.8296:0.0	.	.	.	.	X	67	.	ENSP00000324450:E67X	E	+	1	0	ZSCAN20	33717675	1.000000	0.71417	0.991000	0.47740	0.818000	0.46254	3.665000	0.54532	2.663000	0.90544	0.650000	0.86243	GAG		PASS	0.612	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		18	36	18	36	---	---	---	---
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74801765	74801765	+	Missense_Mutation	SNP	A	A	G	rs200580098		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr1:74801765A>G	ENST00000370899.3	+	9	954	c.917A>G	c.(916-918)cAc>cGc	p.H306R	TNNI3K_ENST00000326637.3_Missense_Mutation_p.H205R|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.H306R|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.H319R|TNNI3K_ENST00000370891.2_Missense_Mutation_p.H306R	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.H205R(1)									AGACCCCTCCACCTAGCATCT	0.358																																						uc001dgf.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(613-615)CAC>CGC		TNNI3 interacting kinase isoform b							105.0	103.0	104.0					1																	74801765		2203	4300	6503	SO:0001583	missense	51086					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74801765A>G			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.917A>G	1.37:g.74801765A>G	ENSP00000359936:p.His306Arg					TNNI3K_uc001dgc.1_Missense_Mutation_p.H306R|TNNI3K_uc001dgd.2_Missense_Mutation_p.H306R|TNNI3K_uc001dge.1_Missense_Mutation_p.H306R	p.H205R	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN			7	665	+			205			ANK 5.			Missense_Mutation	SNP	ENST00000370899.3	37	c.614A>G		.	.	.	.	.	.	.	.	.	.	A	22.5	4.297383	0.81025	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.79554	-0.48;-0.48;-1.28;-1.28;-0.48	5.13	5.13	0.70059	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.89491	0.6730	M	0.88105	2.93	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.997;0.996	D	0.91254	0.5031	10	0.62326	D	0.03	.	15.0968	0.72242	1.0:0.0:0.0:0.0	.	205;306;306;306	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	R	306;306;306;306;205	ENSP00000359936:H306R;ENSP00000359932:H306R;ENSP00000450895:H306R;ENSP00000359928:H306R;ENSP00000322251:H205R	ENSP00000322251:H205R	H	+	2	0	RP11-653A5.2;AC093158.1	74574353	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.724000	0.74747	2.155000	0.67459	0.477000	0.44152	CAC		PASS	0.358	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			17	31	17	31	---	---	---	---
EVI5	7813	broad.mit.edu	37	1	93160930	93160930	+	Silent	SNP	A	A	C			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr1:93160930A>C	ENST00000370331.1	-	7	987	c.978T>G	c.(976-978)acT>acG	p.T326T	EVI5_ENST00000540033.1_Silent_p.T326T|EVI5_ENST00000543509.1_Silent_p.T326T	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	326	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.T326T(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TAAGAAAGATAGTCAGAAACC	0.373																																						uc001dox.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(976-978)ACT>ACG		ecotropic viral integration site 5							112.0	115.0	114.0					1																	93160930		2203	4300	6503	SO:0001819	synonymous_variant	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:93160930A>C	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.978T>G	1.37:g.93160930A>C						EVI5_uc010otf.1_Silent_p.T326T|EVI5_uc001doy.1_5'Flank	p.T326T	NM_005665	NP_005656	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	7	988	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	326			Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC.		A6NKX8|B9A6J0|Q9H1Y9	Silent	SNP	ENST00000370331.1	37	c.978T>G	CCDS30774.1																																																																																				PASS	0.373	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		23	66	23	66	---	---	---	---
CCDC18	343099	broad.mit.edu	37	1	93730454	93730454	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr1:93730454C>A	ENST00000343253.7	+	27	4380	c.3878C>A	c.(3877-3879)aCt>aAt	p.T1293N	RP4-717I23.3_ENST00000451302.2_RNA|CCDC18_ENST00000557479.1_Missense_Mutation_p.T1412N|RP4-717I23.3_ENST00000429859.1_RNA|RP4-717I23.3_ENST00000602488.1_RNA|RP4-717I23.3_ENST00000446528.2_RNA|RP4-717I23.3_ENST00000442860.1_RNA|RP4-717I23.3_ENST00000447577.1_RNA|CCDC18_ENST00000334652.5_3'UTR|RP4-717I23.3_ENST00000415150.1_RNA|RP4-717I23.3_ENST00000455474.1_RNA|RP4-717I23.3_ENST00000414430.1_RNA|RP4-717I23.3_ENST00000413606.1_RNA|RP4-717I23.3_ENST00000424517.3_RNA|CCDC18_ENST00000401026.3_Missense_Mutation_p.T1294N|CCDC18_ENST00000338949.4_3'UTR|RP4-717I23.3_ENST00000457025.1_RNA|RP4-717I23.3_ENST00000427669.1_RNA			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	1293								p.T1412N(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GCATTACTTACTAAAGTAAGT	0.303																																						uc001dpq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(4234-4236)ACT>AAT		sarcoma antigen NY-SAR-41							56.0	52.0	53.0					1																	93730454		1822	4073	5895	SO:0001583	missense	343099							g.chr1:93730454C>A			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.3878C>A	1.37:g.93730454C>A	ENSP00000343377:p.Thr1293Asn					CCDC18_uc001dpr.1_Missense_Mutation_p.T207N|uc001dps.2_Intron	p.T1412N	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	27	4403	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	1293			Potential.		Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.4235C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.336|9.336	1.061802|1.061802	0.19987|0.19987	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000370276|ENST00000343253;ENST00000401026;ENST00000557479	.|.	.|.	.|.	5.23|5.23	2.84|2.84	0.33178|0.33178	.|.	.|0.275572	.|0.34603	.|N	.|0.003821	T|T	0.12178|0.12178	0.0296|0.0296	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B;B	.|0.19583	.|0.037;0.021	.|B;B	.|0.23150	.|0.044;0.027	T|T	0.08351|0.08351	-1.0726|-1.0726	5|9	.|0.16896	.|T	.|0.51	.|.	8.1544|8.1544	0.31160|0.31160	0.0:0.2235:0.0:0.7765|0.0:0.2235:0.0:0.7765	.|.	.|212;1412	.|Q5T9S4;G3V388	.|.;.	I|N	1347|1293;1294;1412	.|.	.|ENSP00000343377:T1293N	L|T	+|+	1|2	2|0	CCDC18|CCDC18	93503042|93503042	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.404000|0.404000	0.30871|0.30871	2.406000|2.406000	0.44557|0.44557	0.455000|0.455000	0.26910|0.26910	-0.966000|-0.966000	0.02617|0.02617	CTA|ACT		PASS	0.303	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		6	32	6	32	---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94473855	94473855	+	Splice_Site	SNP	T	T	C	rs61750637		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr1:94473855T>C	ENST00000370225.3	-	42	5922		c.e42-2		ABCA4_ENST00000536513.1_Splice_Site|ABCA4_ENST00000465352.1_Splice_Site|ABCA4_ENST00000535881.1_Splice_Site	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4						phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.?(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGGATAAATCTGCAAGATACG	0.542																																						uc001dqh.2																			1	Unknown(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12	GRCh37	CD014443	ABCA4	D	rs61750637	c.e42-1		ATP-binding cassette, sub-family A member 4							68.0	70.0	70.0					1																	94473855		2203	4300	6503	SO:0001630	splice_region_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94473855T>C	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.5836-2A>G	1.37:g.94473855T>C						ABCA4_uc001dqi.1_Splice_Site_p.I65_splice	p.I1946_splice	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	42	5940	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)						O15112|O60438|O60915|Q0QD48|Q4LE31	Splice_Site	SNP	ENST00000370225.3	37	c.5836_splice	CCDS747.1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.508943	0.64410	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.79	0.78350	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA4	94246443	1.000000	0.71417	0.996000	0.52242	0.730000	0.41778	7.112000	0.77086	2.371000	0.80710	0.533000	0.62120	.		PASS	0.542	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	Intron	9	25	9	25	---	---	---	---
PRPF38B	55119	broad.mit.edu	37	1	109242502	109242502	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr1:109242502A>T	ENST00000370025.4	+	6	1770	c.1501A>T	c.(1501-1503)Agt>Tgt	p.S501C	PRPF38B_ENST00000370021.1_Missense_Mutation_p.S390C	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	501					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.S501C(1)		NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		TAGAAAGCGTAGTAGAAGCAA	0.408																																						uc001dvv.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1501-1503)AGT>TGT		PRP38 pre-mRNA processing factor 38 (yeast)							127.0	127.0	127.0					1																	109242502		2203	4300	6503	SO:0001583	missense	55119				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:109242502A>T	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.1501A>T	1.37:g.109242502A>T	ENSP00000359042:p.Ser501Cys					PRPF38B_uc001dvw.3_Missense_Mutation_p.S390C|PRPF38B_uc010ouz.1_Missense_Mutation_p.S304C	p.S501C	NM_018061	NP_060531	Q5VTL8	PR38B_HUMAN		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)	6	1783	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	501					Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation	SNP	ENST00000370025.4	37	c.1501A>T	CCDS788.1	.	.	.	.	.	.	.	.	.	.	A	12.98	2.101227	0.37048	.	.	ENSG00000134186	ENST00000370025;ENST00000370021	T;T	0.44881	0.91;2.51	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	N	0.24115	0.695	0.58432	D	0.999992	D	0.76494	0.999	D	0.74674	0.984	T	0.48822	-0.9001	10	0.62326	D	0.03	.	15.4327	0.75116	1.0:0.0:0.0:0.0	.	501	Q5VTL8	PR38B_HUMAN	C	501;390	ENSP00000359042:S501C;ENSP00000359038:S390C	ENSP00000359038:S390C	S	+	1	0	PRPF38B	109044025	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.993000	0.88291	2.070000	0.61991	0.459000	0.35465	AGT		PASS	0.408	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		47	187	47	187	---	---	---	---
CD101	9398	broad.mit.edu	37	1	117576499	117576499	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr1:117576499A>G	ENST00000256652.4	+	9	2900	c.2842A>G	c.(2842-2844)Agg>Ggg	p.R948G	RP11-27K13.3_ENST00000445523.1_RNA|CD101_ENST00000369470.1_Missense_Mutation_p.R948G|CD101_ENST00000467588.1_3'UTR|RP11-27K13.3_ENST00000421254.1_RNA	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	948					cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.R948G(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCTTCCTTCCAGGATCTGCTC	0.478																																						uc010oxb.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(2842-2844)AGG>GGG		immunoglobulin superfamily, member 2 precursor							97.0	96.0	96.0					1																	117576499		2203	4300	6503	SO:0001583	missense	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117576499A>G	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.2842A>G	1.37:g.117576499A>G	ENSP00000256652:p.Arg948Gly					CD101_uc009whd.2_Missense_Mutation_p.R948G|CD101_uc010oxc.1_Missense_Mutation_p.R948G|CD101_uc010oxd.1_Missense_Mutation_p.R886G	p.R948G	NM_004258	NP_004249	Q93033	IGSF2_HUMAN			9	2900	+			948			Extracellular (Potential).		Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	c.2842A>G	CCDS891.1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.431636	0.43122	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.03496	3.91;3.91	5.83	0.673	0.17941	.	0.263788	0.27294	N	0.020036	T	0.00754	0.0025	N	0.24115	0.695	0.23376	N	0.997809	B	0.09022	0.002	B	0.08055	0.003	T	0.47749	-0.9093	10	0.62326	D	0.03	-5.6919	2.6042	0.04874	0.5146:0.2694:0.0809:0.1351	.	948	Q93033	IGSF2_HUMAN	G	948	ENSP00000256652:R948G;ENSP00000358482:R948G	ENSP00000256652:R948G	R	+	1	2	CD101	117378022	0.994000	0.37717	0.548000	0.28192	0.613000	0.37349	1.495000	0.35627	-0.124000	0.11724	0.460000	0.39030	AGG		PASS	0.478	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		6	50	6	50	---	---	---	---
TTF2	8458	broad.mit.edu	37	1	117631571	117631571	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr1:117631571A>G	ENST00000369466.4	+	13	2353	c.2309A>G	c.(2308-2310)cAa>cGa	p.Q770R		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	770	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)	p.Q770R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		ACCCCCATTCAAAACAACTTA	0.438																																						uc001egy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2308-2310)CAA>CGA		transcription termination factor, RNA polymerase							122.0	128.0	126.0					1																	117631571		2203	4300	6503	SO:0001583	missense	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117631571A>G	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.2309A>G	1.37:g.117631571A>G	ENSP00000358478:p.Gln770Arg						p.Q770R	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	13	2329	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	770			Helicase ATP-binding.		A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	c.2309A>G	CCDS892.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.864197	0.91511	.	.	ENSG00000116830	ENST00000369466	D	0.94376	-3.41	5.94	5.94	0.96194	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.37437	N	0.002083	D	0.97898	0.9309	H	0.97852	4.09	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99120	1.0849	10	0.72032	D	0.01	-20.9355	14.3596	0.66761	1.0:0.0:0.0:0.0	.	770	Q9UNY4	TTF2_HUMAN	R	770	ENSP00000358478:Q770R	ENSP00000358478:Q770R	Q	+	2	0	TTF2	117433094	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.832000	0.92079	2.275000	0.75901	0.528000	0.53228	CAA		PASS	0.438	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			43	63	43	63	---	---	---	---
ITGA10	8515	broad.mit.edu	37	1	145537199	145537199	+	Silent	SNP	C	C	T	rs587734285		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr1:145537199C>T	ENST00000369304.3	+	19	2545	c.2370C>T	c.(2368-2370)ggC>ggT	p.G790G	ITGA10_ENST00000538811.1_Silent_p.G659G|ITGA10_ENST00000539363.1_Silent_p.G647G	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	790					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.G790G(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGGATTGTGGCCCTGACAATG	0.493													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19987	0.0		0.0	False		,,,				2504	0.0					uc001eoa.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8						c.(2368-2370)GGC>GGT		integrin, alpha 10 precursor							87.0	79.0	82.0					1																	145537199		2203	4300	6503	SO:0001819	synonymous_variant	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145537199C>T	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2370C>T	1.37:g.145537199C>T						NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Silent_p.G659G|ITGA10_uc009wiw.2_Silent_p.G647G|ITGA10_uc010oyw.1_Silent_p.G735G	p.G790G	NM_003637	NP_003628	O75578	ITA10_HUMAN			19	2446	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		790			Extracellular (Potential).		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Silent	SNP	ENST00000369304.3	37	c.2370C>T	CCDS918.1																																																																																				PASS	0.493	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		11	87	11	87	---	---	---	---
TPM3	7170	broad.mit.edu	37	1	154145418	154145418	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr1:154145418C>A	ENST00000368530.2	-	5	724	c.532G>T	c.(532-534)Gaa>Taa	p.E178*	TPM3_ENST00000328159.4_Nonsense_Mutation_p.E141*|TPM3_ENST00000368531.2_Nonsense_Mutation_p.E141*|TPM3_ENST00000368533.3_Nonsense_Mutation_p.E141*|TPM3_ENST00000341485.5_Nonsense_Mutation_p.E125*|TPM3_ENST00000323144.7_Nonsense_Mutation_p.E141*|TPM3_ENST00000330188.9_Nonsense_Mutation_p.E141*|TPM3_ENST00000271850.7_Nonsense_Mutation_p.E178*|TPM3_ENST00000302206.5_Nonsense_Mutation_p.E51*|TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000341372.3_Nonsense_Mutation_p.E116*	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	178					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)		p.E141*(2)|p.E178*(1)	TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					TCTGTGCGTTCCAAGTCTCCT	0.473			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""																																	uc001fec.1				Dom	yes		1	1q22-q23	7170	T	tropomyosin 3			"""E, L"""	NTRK1|ALK		papillary thyroid|ALCL	TPM3/ALK(33)	3	Substitution - Nonsense(3)		lung(3)	haematopoietic_and_lymphoid_tissue(22)|soft_tissue(11)|skin(1)	34						c.(532-534)GAA>TAA		tropomyosin 3 isoform 1							166.0	149.0	155.0					1																	154145418		2203	4300	6503	SO:0001587	stop_gained	7170				cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding	g.chr1:154145418C>A	BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"""Tropomyosins"""	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.532G>T	1.37:g.154145418C>A	ENSP00000357516:p.Glu178*					TPM3_uc001fdx.1_5'Flank|TPM3_uc010pei.1_Nonsense_Mutation_p.E51*|TPM3_uc001fdy.1_Nonsense_Mutation_p.E141*|TPM3_uc001fdz.1_Nonsense_Mutation_p.E141*|TPM3_uc001fea.1_Nonsense_Mutation_p.E141*|TPM3_uc001feb.1_Nonsense_Mutation_p.E141*|TPM3_uc010pej.1_Nonsense_Mutation_p.E74*|TPM3_uc009wor.2_Intron|TPM3_uc001fed.1_Nonsense_Mutation_p.E141*	p.E178*	NM_152263	NP_689476	P06753	TPM3_HUMAN			5	647	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		177			By similarity.		D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	Nonsense_Mutation	SNP	ENST00000368530.2	37	c.532G>T	CCDS41403.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741450	0.89573	.	.	ENSG00000143549	ENST00000368533;ENST00000341485;ENST00000330188;ENST00000341372;ENST00000328159;ENST00000271850;ENST00000302206;ENST00000368531;ENST00000323144;ENST00000368530	.	.	.	6.0	6.0	0.97389	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.5846	20.4949	0.99206	0.0:1.0:0.0:0.0	.	.	.	.	X	141;125;141;117;141;178;51;141;141;178	.	ENSP00000271850:E178X	E	-	1	0	TPM3	152412042	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.760000	0.85248	2.848000	0.98002	0.655000	0.94253	GAA		PASS	0.473	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087271.2	NM_152263		38	131	38	131	---	---	---	---
CD5L	922	broad.mit.edu	37	1	157805945	157805945	+	Splice_Site	SNP	G	G	T	rs377627339		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr1:157805945G>T	ENST00000368174.4	-	3	152	c.56C>A	c.(55-57)gCg>gAg	p.A19E	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	19					apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)	p.A19V(2)|p.A19E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGATGGAGACGCTGCAAAGAG	0.592																																						uc001frk.3																			3	Substitution - Missense(3)		breast(2)|lung(1)	ovary(1)	1						c.(55-57)GCG>GAG		CD5 molecule-like precursor							32.0	35.0	34.0					1																	157805945		2203	4300	6503	SO:0001630	splice_region_variant	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157805945G>T	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.56-1C>A	1.37:g.157805945G>T							p.A19E	NM_005894	NP_005885	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	199	-	all_hematologic(112;0.0378)		19					A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.56C>A	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	G	0.518	-0.863538	0.02590	.	.	ENSG00000073754	ENST00000368174	T	0.01422	4.91	4.85	-2.73	0.05950	Speract/scavenger receptor-related (1);	.	.	.	.	T	0.00109	0.0003	N	0.00683	-1.26	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.35724	-0.9777	9	0.02654	T	1	.	5.7632	0.18211	0.0:0.392:0.1524:0.4556	.	19	O43866	CD5L_HUMAN	E	19	ENSP00000357156:A19E	ENSP00000357156:A19E	A	-	2	0	CD5L	156072569	0.000000	0.05858	0.014000	0.15608	0.049000	0.14656	-1.272000	0.02826	-0.712000	0.04988	-0.388000	0.06559	GCG		PASS	0.592	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894	Missense_Mutation	9	33	9	33	---	---	---	---
OR10T2	128360	broad.mit.edu	37	1	158368446	158368446	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr1:158368446C>G	ENST00000334438.1	-	1	810	c.811G>C	c.(811-813)Gat>Cat	p.D271H		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D271Y(1)|p.D271H(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					ACCAACTGATCCTTGTCTGAG	0.473																																						uc010pih.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(811-813)GAT>CAT		olfactory receptor, family 10, subfamily T,							99.0	84.0	90.0					1																	158368446		2203	4300	6503	SO:0001583	missense	128360				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158368446C>G	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.811G>C	1.37:g.158368446C>G	ENSP00000334115:p.Asp271His						p.D271H	NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN			1	811	-	all_hematologic(112;0.0378)		271			Extracellular (Potential).		Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	c.811G>C	CCDS30895.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729215	0.48833	.	.	ENSG00000186306	ENST00000334438	T	0.00253	8.43	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43110	D	0.000605	T	0.00356	0.0011	M	0.87971	2.92	0.24078	N	0.995952	D	0.89917	1.0	D	0.81914	0.995	T	0.33701	-0.9858	10	0.87932	D	0	.	16.2855	0.82717	0.0:1.0:0.0:0.0	.	271	Q8NGX3	O10T2_HUMAN	H	271	ENSP00000334115:D271H	ENSP00000334115:D271H	D	-	1	0	OR10T2	156635070	0.000000	0.05858	0.989000	0.46669	0.976000	0.68499	-1.118000	0.03280	2.359000	0.80004	0.655000	0.94253	GAT		PASS	0.473	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		15	46	15	46	---	---	---	---
ACKR1	2532	broad.mit.edu	37	1	159175948	159175948	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr1:159175948G>A	ENST00000368122.2	+	2	1398	c.719G>A	c.(718-720)gGc>gAc	p.G240D	CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000368121.2_Missense_Mutation_p.G242D|DARC_ENST00000537147.1_Missense_Mutation_p.G240D	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		240					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.G242D(1)		large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					ATGGGGCCAGGCCCCTGGATG	0.537																																						uc001fto.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(718-720)GGC>GAC		Duffy blood group antigen isoform b							91.0	90.0	90.0					1																	159175948		2203	4300	6503	SO:0001583	missense	2532				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	g.chr1:159175948G>A																												ENST00000368122.2:c.719G>A	1.37:g.159175948G>A	ENSP00000357104:p.Gly240Asp					DARC_uc001ftp.3_Missense_Mutation_p.G242D	p.G240D	NM_002036	NP_002027	Q16570	DUFFY_HUMAN			2	959	+	all_hematologic(112;0.0429)		240			Cytoplasmic (Potential).		A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Missense_Mutation	SNP	ENST00000368122.2	37	c.719G>A	CCDS1183.1	.	.	.	.	.	.	.	.	.	.	G	9.599	1.128134	0.20959	.	.	ENSG00000213088	ENST00000368122;ENST00000537147;ENST00000359381;ENST00000368121	T;T;T	0.37411	1.2;1.2;1.2	5.51	1.36	0.22044	.	0.256484	0.19898	U	0.103577	T	0.23451	0.0567	L	0.38175	1.15	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	T	0.04294	-1.0962	10	0.29301	T	0.29	-3.8144	3.9819	0.09498	0.084:0.307:0.4501:0.1588	.	242;240	Q5Y7A1;Q16570	.;DUFFY_HUMAN	D	240;240;240;242	ENSP00000357104:G240D;ENSP00000441985:G240D;ENSP00000357103:G242D	ENSP00000352341:G240D	G	+	2	0	DARC	157442572	0.003000	0.15002	0.001000	0.08648	0.014000	0.08584	1.026000	0.30103	0.339000	0.23719	-0.181000	0.13052	GGC		PASS	0.537	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			30	104	30	104	---	---	---	---
IGSF8	93185	broad.mit.edu	37	1	160062403	160062403	+	Silent	SNP	A	A	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr1:160062403A>T	ENST00000368086.1	-	5	1611	c.1395T>A	c.(1393-1395)tcT>tcA	p.S465S	IGSF8_ENST00000314485.7_Silent_p.S465S|IGSF8_ENST00000460351.1_5'Flank			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	465	Ig-like C2-type 4.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S465S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CACCCCGCACAGAGATGTTGC	0.662																																						uc001fva.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1393-1395)TCT>TCA		immunoglobulin superfamily, member 8							23.0	25.0	24.0					1																	160062403		2195	4291	6486	SO:0001819	synonymous_variant	93185				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	g.chr1:160062403A>T	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.1395T>A	1.37:g.160062403A>T						IGSF8_uc001fuz.2_Silent_p.S465S|IGSF8_uc009wtf.2_Silent_p.S465S	p.S465S	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		5	1440	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		465			Ig-like C2-type 4.|Extracellular (Potential).		Q8NG09|Q96DP4|Q9BTG9	Silent	SNP	ENST00000368086.1	37	c.1395T>A	CCDS1195.1																																																																																				PASS	0.662	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868		22	7	22	7	---	---	---	---
SELP	6403	broad.mit.edu	37	1	169581631	169581631	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr1:169581631C>T	ENST00000263686.6	-	6	822	c.785G>A	c.(784-786)tGc>tAc	p.C262Y	SELP_ENST00000367791.2_Missense_Mutation_p.C262Y|SELP_ENST00000367793.2_Intron|SELP_ENST00000367786.2_Missense_Mutation_p.C262Y|SELP_ENST00000367794.2_Missense_Mutation_p.C262Y|SELP_ENST00000458599.2_Missense_Mutation_p.C262Y|SELP_ENST00000367788.2_Intron|SELP_ENST00000367792.2_Missense_Mutation_p.C262Y	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	262	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.C262Y(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	CAGGGGTGGGCACTGGGCAGC	0.473																																						uc001ggi.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(784-786)TGC>TAC		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						71.0	73.0	72.0					1																	169581631		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169581631C>T	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.785G>A	1.37:g.169581631C>T	ENSP00000263686:p.Cys262Tyr					SELP_uc001ggh.2_Missense_Mutation_p.C97Y|SELP_uc009wvr.2_Missense_Mutation_p.C262Y	p.C262Y	NM_003005	NP_002996	P16109	LYAM3_HUMAN			6	850	-	all_hematologic(923;0.208)		262			Extracellular (Potential).|Sushi 2.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.785G>A	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298707	0.40694	.	.	ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367786;ENST00000458599	D;D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74;-6.74	5.39	5.39	0.77823	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.47852	D	0.000203	D	0.99910	0.9957	H	0.99590	4.645	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.96121	0.9085	10	0.87932	D	0	-22.5324	15.8792	0.79189	0.0:1.0:0.0:0.0	.	262;262;262	Q6NUL9;P16109;G3V1U2	.;LYAM3_HUMAN;.	Y	262;262;261;262;262;262;262;262;262;262;247	ENSP00000263686:C262Y;ENSP00000356768:C262Y;ENSP00000356766:C262Y;ENSP00000356765:C262Y;ENSP00000356760:C262Y	ENSP00000263686:C262Y	C	-	2	0	SELP	167848255	0.938000	0.31826	0.083000	0.20561	0.014000	0.08584	0.996000	0.29719	2.521000	0.84997	0.650000	0.86243	TGC		PASS	0.473	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		19	65	19	65	---	---	---	---
SUCO	51430	broad.mit.edu	37	1	172520726	172520726	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr1:172520726A>G	ENST00000263688.3	+	2	356	c.137A>G	c.(136-138)aAc>aGc	p.N46S	SUCO_ENST00000610051.1_Missense_Mutation_p.N46S|SUCO_ENST00000608151.1_Missense_Mutation_p.N242S|SUCO_ENST00000367723.4_Missense_Mutation_p.N241S	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	46					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)		p.N242S(1)|p.N46S(1)									CAAGATGACAACTGCGCACTA	0.398																																						uc001giq.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(136-138)AAC>AGC		chromosome 1 open reading frame 9 protein							97.0	93.0	94.0					1																	172520726		2203	4300	6503	SO:0001583	missense	51430				multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane		g.chr1:172520726A>G	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.137A>G	1.37:g.172520726A>G	ENSP00000263688:p.Asn46Ser					C1orf9_uc010pmm.1_Missense_Mutation_p.N46S|C1orf9_uc009wwd.2_Missense_Mutation_p.N46S|C1orf9_uc010pmn.1_Missense_Mutation_p.N46S|C1orf9_uc010pmo.1_RNA	p.N46S	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)	2	453	+		Breast(1374;0.212)	46					B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	c.137A>G	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.709700	0.30322	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.78	1.91	0.25777	.	0.257185	0.33834	N	0.004508	T	0.11281	0.0275	L	0.32530	0.975	0.24997	N	0.991494	B;B;B;B	0.21071	0.003;0.005;0.051;0.002	B;B;B;B	0.14023	0.005;0.006;0.01;0.006	T	0.26326	-1.0106	9	0.34782	T	0.22	-10.1527	7.0773	0.25211	0.6855:0.0:0.3145:0.0	.	46;46;242;46	B4DYM4;B4DZJ3;Q5H945;Q9UBS9	.;.;.;OSPT_HUMAN	S	242;46	.	ENSP00000263688:N46S	N	+	2	0	C1orf9	170787349	1.000000	0.71417	0.994000	0.49952	0.493000	0.33554	1.492000	0.35594	0.056000	0.16144	0.477000	0.44152	AAC		PASS	0.398	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		6	46	6	46	---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197056045	197056046	+	Missense_Mutation	DNP	CT	CT	AA			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr1:197056045_197056046CT>AA	ENST00000367409.4	-	27	10474_10475	c.10218_10219AG>TT	c.(10216-10221)acAGct>acTTct	p.A3407S	ASPM_ENST00000294732.7_Missense_Mutation_p.A1822S|ASPM_ENST00000367408.1_Missense_Mutation_p.A1072S	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3407					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.A3407S(2)|p.T3406T(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGTTTATGAGCTGTAAGTTTGT	0.317																																						uc001gtu.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(4)|central_nervous_system(2)	6						c.(10219-10221)GCT>TCT|c.(10216-10218)ACA>ACT		asp (abnormal spindle)-like, microcephaly																																				SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197056045C>A|g.chr1:197056046T>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.10218_10219delinsAA	1.37:g.197056045_197056046delinsAA	ENSP00000356379:p.Ala3407Ser					ASPM_uc001gtv.2_Missense_Mutation_p.A1822S|ASPM_uc001gtv.2_Silent_p.T1821T	p.A3407S|p.T3406T	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			27	10476|10475	-			3407|3406					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation|Silent	SNP	ENST00000367409.4	37	c.10219G>T|c.10218A>T	CCDS1389.1																																																																																				PASS	0.317	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		7	25	7	25	---	---	---	---
C1orf106	55765	broad.mit.edu	37	1	200869268	200869268	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr1:200869268A>G	ENST00000367342.4	+	4	672	c.472A>G	c.(472-474)Aaa>Gaa	p.K158E	C1orf106_ENST00000413687.2_Missense_Mutation_p.K73E	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	158								p.K158E(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GTATCCCCTCAAACCAGGGGA	0.622																																						uc001gvo.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(472-474)AAA>GAA		hypothetical protein LOC55765 isoform 1							53.0	47.0	49.0					1																	200869268		2203	4300	6503	SO:0001583	missense	55765							g.chr1:200869268A>G	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.472A>G	1.37:g.200869268A>G	ENSP00000356311:p.Lys158Glu					C1orf106_uc010ppm.1_Missense_Mutation_p.K73E	p.K158E	NM_018265	NP_060735	Q3KP66	CA106_HUMAN			4	502	+			158					B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Missense_Mutation	SNP	ENST00000367342.4	37	c.472A>G		.	.	.	.	.	.	.	.	.	.	A	13.94	2.388136	0.42308	.	.	ENSG00000163362	ENST00000451872;ENST00000367342;ENST00000413687	T;T	0.39406	1.08;1.1	4.6	4.6	0.57074	.	0.347603	0.27105	U	0.020907	T	0.38026	0.1025	N	0.10782	0.045	0.31090	N	0.710937	D	0.69078	0.997	D	0.79108	0.992	T	0.17776	-1.0358	10	0.06494	T	0.89	-12.1446	11.4963	0.50410	1.0:0.0:0.0:0.0	.	158	Q3KP66	CA106_HUMAN	E	73;158;73	ENSP00000356311:K158E;ENSP00000392105:K73E	ENSP00000356311:K158E	K	+	1	0	C1orf106	199135891	0.995000	0.38212	0.938000	0.37757	0.980000	0.70556	2.186000	0.42593	1.700000	0.51204	0.383000	0.25322	AAA		PASS	0.622	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		4	25	4	25	---	---	---	---
NFASC	23114	broad.mit.edu	37	1	204971757	204971758	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr1:204971757_204971758CC>AA	ENST00000401399.1	+	26	3369_3370	c.3170_3171CC>AA	c.(3169-3171)gCC>gAA	p.A1057E	NFASC_ENST00000338515.6_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000367172.4_Missense_Mutation_p.A1164E|NFASC_ENST00000338586.6_Missense_Mutation_p.A1041E|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000339876.6_Missense_Mutation_p.A1057E|NFASC_ENST00000367170.4_Missense_Mutation_p.A1085E|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.A1149E|NFASC_ENST00000360049.4_Intron			O94856	NFASC_HUMAN	neurofascin	1164	Thr-rich.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.A1057A(1)|p.A1057D(1)|p.A1057E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCAGTTAAGGCCCAGGCTCAGC	0.545																																						uc001hbj.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(3169-3171)GCC>GAC|c.(3169-3171)GCC>GCA		neurofascin isoform 1 precursor																																				SO:0001583	missense	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204971757C>A|g.chr1:204971758C>A	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	Exception_encountered	1.37:g.204971757_204971758delinsAA	ENSP00000385637:p.Ala1057Glu					NFASC_uc010pra.1_Intron|NFASC_uc001hbi.2_Intron|NFASC_uc010prb.1_Intron|NFASC_uc010prc.1_Intron|NFASC_uc001hbl.1_Intron|NFASC_uc001hbm.1_Missense_Mutation_p.A80D|NFASC_uc009xbh.1_Intron|NFASC_uc010pra.1_Intron|NFASC_uc001hbi.2_Intron|NFASC_uc010prb.1_Intron|NFASC_uc010prc.1_Intron|NFASC_uc001hbl.1_Intron|NFASC_uc001hbm.1_Silent_p.A80A|NFASC_uc009xbh.1_Intron	p.A1057D|p.A1057A	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		27	3498|3499	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		1164			Extracellular (Potential).|Fibronectin type-III 5.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation|Silent	SNP	ENST00000401399.1	37	c.3170C>A|c.3171C>A	CCDS53460.1																																																																																				PASS	0.545	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		4	18	4	18	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207641891	207641891	+	Silent	SNP	A	A	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr1:207641891A>T	ENST00000367058.3	+	3	654	c.465A>T	c.(463-465)ccA>ccT	p.P155P	CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Silent_p.P155P|CR2_ENST00000458541.2_Silent_p.P155P|CR2_ENST00000367057.3_Silent_p.P155P	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	155	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.P155P(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TCGAGTGTCCAGCACTTCCTA	0.443																																						uc001hfw.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						c.(463-465)CCA>CCT		complement component (3d/Epstein Barr virus)							175.0	164.0	168.0					1																	207641891		2203	4300	6503	SO:0001819	synonymous_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207641891A>T	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.465A>T	1.37:g.207641891A>T						CR2_uc001hfv.2_Silent_p.P155P|CR2_uc009xch.2_Silent_p.P155P|CR2_uc009xci.1_5'Flank	p.P155P	NM_001877	NP_001868	P20023	CR2_HUMAN			3	559	+			155			Sushi 3.|Extracellular (Potential).		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Silent	SNP	ENST00000367058.3	37	c.465A>T	CCDS1478.1																																																																																				PASS	0.443	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		10	38	10	38	---	---	---	---
KCNH1	3756	broad.mit.edu	37	1	210948803	210948803	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr1:210948803A>G	ENST00000271751.4	-	10	2026	c.1999T>C	c.(1999-2001)Tgt>Cgt	p.C667R	KCNH1_ENST00000367007.4_Missense_Mutation_p.C640R			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	667					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.C667R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGCAGATCACAGTAGGTCAAG	0.517																																						uc001hib.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1999-2001)TGT>CGT		potassium voltage-gated channel, subfamily H,							141.0	113.0	122.0					1																	210948803		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:210948803A>G	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1999T>C	1.37:g.210948803A>G	ENSP00000271751:p.Cys667Arg					KCNH1_uc001hic.2_Missense_Mutation_p.C640R	p.C667R	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	10	2169	-			667			Cytoplasmic (Potential).|cNMP.		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.1999T>C	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.758098	0.69648	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.97352	-4.35;-4.35	5.47	5.47	0.80525	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.98918	0.9633	H	0.95402	3.665	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.994;0.996	D	0.99628	1.0985	10	0.87932	D	0	.	15.5608	0.76244	1.0:0.0:0.0:0.0	.	640;667	Q14CL3;O95259	.;KCNH1_HUMAN	R	667;640	ENSP00000271751:C667R;ENSP00000355974:C640R	ENSP00000271751:C667R	C	-	1	0	KCNH1	209015426	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	8.999000	0.93557	2.076000	0.62316	0.459000	0.35465	TGT		PASS	0.517	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		11	49	11	49	---	---	---	---
GALNT2	2590	broad.mit.edu	37	1	230401027	230401027	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr1:230401027C>G	ENST00000366672.4	+	14	1426	c.1354C>G	c.(1354-1356)Cag>Gag	p.Q452E	RP5-956O18.2_ENST00000440729.1_RNA|GALNT2_ENST00000485438.1_3'UTR|GALNT2_ENST00000541865.1_3'UTR|GALNT2_ENST00000543760.1_Missense_Mutation_p.Q414E	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	452	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.Q452*(1)|p.Q452E(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GGCCTTGCAGCAGGGAACTAA	0.517																																						uc010pwa.1																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(2)	ovary(2)	2						c.(1354-1356)CAG>GAG		polypeptide N-acetylgalactosaminyltransferase 2							292.0	259.0	270.0					1																	230401027		2203	4300	6503	SO:0001583	missense	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230401027C>G	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1354C>G	1.37:g.230401027C>G	ENSP00000355632:p.Gln452Glu					GALNT2_uc010pvy.1_Missense_Mutation_p.Q414E|GALNT2_uc010pvz.1_RNA|GALNT2_uc001htu.2_Missense_Mutation_p.Q64E	p.Q452E	NM_004481	NP_004472	Q10471	GALT2_HUMAN			14	1426	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	452			Lumenal (Potential).|Ricin B-type lectin.		A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	ENST00000366672.4	37	c.1354C>G	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114909	0.77210	.	.	ENSG00000143641	ENST00000543760;ENST00000366672;ENST00000543291	T;T	0.29142	1.58;1.58	5.34	5.34	0.76211	Ricin B-related lectin (1);Ricin B lectin (1);	1.075040	0.07046	N	0.831051	T	0.52435	0.1734	L	0.59436	1.845	0.80722	D	1	D;D	0.60575	0.988;0.973	P;P	0.55615	0.78;0.582	T	0.46721	-0.9171	10	0.62326	D	0.03	.	19.0469	0.93025	0.0:1.0:0.0:0.0	.	452;414	Q10471;G3V1S6	GALT2_HUMAN;.	E	414;452;333	ENSP00000445017:Q414E;ENSP00000355632:Q452E	ENSP00000355632:Q452E	Q	+	1	0	GALNT2	228467650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.802000	0.85969	2.497000	0.84241	0.561000	0.74099	CAG		PASS	0.517	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		54	135	54	135	---	---	---	---
CAPN9	10753	broad.mit.edu	37	1	230914830	230914831	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr1:230914830_230914831GG>TT	ENST00000271971.2	+	9	1178_1179	c.1065_1066GG>TT	c.(1063-1068)caGGga>caTTga	p.355_356QG>H*	RP11-99J16__A.2_ENST00000412344.1_RNA|RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000366666.2_Nonsense_Mutation_p.292_293QG>H*|RP11-99J16__A.2_ENST00000428480.1_RNA|CAPN9_ENST00000354537.1_Nonsense_Mutation_p.329_330QG>H*	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	355	Domain III.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.G330*(1)|p.Q355_G356>H*(1)|p.Q329H(1)|p.Q329_G330>H*(1)|p.G356*(1)|p.Q355H(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CGGTCCATCAGGGAAGCTGGGT	0.589																																						uc001htz.1																			6	Substitution - Missense(2)|Substitution - Nonsense(2)|Complex - compound substitution(2)		lung(6)	ovary(1)	1						c.(1063-1065)CAG>CAT|c.(1066-1068)GGA>TGA		calpain 9 isoform 1																																				SO:0001587	stop_gained	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230914830G>T|g.chr1:230914831G>T	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	Exception_encountered	1.37:g.230914830_230914831delinsTT	ENSP00000271971:p.Q355_G356delinsH*					CAPN9_uc009xfg.1_Missense_Mutation_p.Q292H|CAPN9_uc001hua.1_Missense_Mutation_p.Q329H|CAPN9_uc009xfg.1_Nonsense_Mutation_p.G293*|CAPN9_uc001hua.1_Nonsense_Mutation_p.G330*	p.Q355H|p.G356*	NM_006615	NP_006606	O14815	CAN9_HUMAN			9	1178|1179	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	355|356			Domain III.		B1APS1|B1AQI0|Q9NS74	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000271971.2	37	c.1065G>T|c.1066G>T	CCDS1586.1																																																																																				PASS	0.589	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		11|10	24	10	24	---	---	---	---
LYST	1130	broad.mit.edu	37	1	235860456	235860456	+	Missense_Mutation	SNP	C	C	A	rs577606781		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr1:235860456C>A	ENST00000389794.3	-	46	10665	c.10491G>T	c.(10489-10491)caG>caT	p.Q3497H	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.Q3497H			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3497					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.Q3497H(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGGGCAGAGCCTGGAGAGAGC	0.478																																						uc001hxj.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(4)|central_nervous_system(2)	12						c.(10489-10491)CAG>CAT		lysosomal trafficking regulator							81.0	84.0	83.0					1																	235860456		2203	4300	6503	SO:0001583	missense	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235860456C>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.10491G>T	1.37:g.235860456C>A	ENSP00000374444:p.Gln3497His					LYST_uc001hxi.2_Missense_Mutation_p.Q721H	p.Q3497H	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		46	10666	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3497					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.10491G>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464740	0.43736	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.62364	0.03;0.03	5.88	2.99	0.34606	.	0.413041	0.14486	U	0.316626	T	0.66819	0.2828	L	0.57536	1.79	0.80722	D	1	D	0.63880	0.993	P	0.59825	0.864	T	0.60662	-0.7219	10	0.13853	T	0.58	.	8.5844	0.33649	0.0:0.6513:0.0:0.3487	.	3497	Q99698	LYST_HUMAN	H	3497	ENSP00000374444:Q3497H;ENSP00000374443:Q3497H	ENSP00000374443:Q3497H	Q	-	3	2	LYST	233927079	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.654000	0.24918	0.814000	0.34374	0.591000	0.81541	CAG		PASS	0.478	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			21	38	21	38	---	---	---	---
ERO1LB	56605	broad.mit.edu	37	1	236389765	236389765	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr1:236389765G>T	ENST00000354619.5	-	12	1057	c.856C>A	c.(856-858)Cgc>Agc	p.R286S		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	286					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)	p.R286S(1)		NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	GGGTCAAAGCGGTGTTTGAAT	0.393																																						uc001hxt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(856-858)CGC>AGC		endoplasmic reticulum oxidoreductin 1-Lbeta							75.0	77.0	76.0					1																	236389765		2203	4300	6503	SO:0001583	missense	56605				electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding	g.chr1:236389765G>T	AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.856C>A	1.37:g.236389765G>T	ENSP00000346635:p.Arg286Ser						p.R286S	NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		12	1112	-	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	286				FAD (By similarity).	B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	ENST00000354619.5	37	c.856C>A	CCDS31064.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881889	0.91740	.	.	ENSG00000086619	ENST00000354619;ENST00000264181	T;T	0.59772	0.24;0.24	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.84165	0.5412	H	0.95224	3.64	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88660	0.3188	10	0.87932	D	0	-11.2484	19.5134	0.95153	0.0:0.0:1.0:0.0	.	286	Q86YB8	ERO1B_HUMAN	S	286;11	ENSP00000346635:R286S;ENSP00000264181:R11S	ENSP00000264181:R11S	R	-	1	0	ERO1LB	234456388	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.445000	0.97587	2.609000	0.88269	0.579000	0.79373	CGC		PASS	0.393	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891		14	34	14	34	---	---	---	---
OR2T33	391195	broad.mit.edu	37	1	248436713	248436713	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr1:248436713C>T	ENST00000318021.2	-	1	425	c.404G>A	c.(403-405)aGc>aAc	p.S135N		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S135N(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CAGCTGCCAGCTCATGAGAGT	0.592																																						uc010pzi.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(403-405)AGC>AAC		olfactory receptor, family 2, subfamily T,							90.0	89.0	89.0					1																	248436713		2203	4299	6502	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436713C>T		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.404G>A	1.37:g.248436713C>T	ENSP00000324687:p.Ser135Asn						p.S135N	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	404	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		135			Cytoplasmic (Potential).		B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.404G>A	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	0.012	-1.670452	0.00758	.	.	ENSG00000177212	ENST00000318021	T	0.01998	4.51	2.7	-4.57	0.03421	GPCR, rhodopsin-like superfamily (1);	0.996321	0.08123	N	0.994347	T	0.01387	0.0045	N	0.21545	0.675	0.09310	N	1	B	0.13594	0.008	B	0.17979	0.02	T	0.49606	-0.8922	10	0.09084	T	0.74	.	5.3904	0.16242	0.0:0.4265:0.2697:0.3038	.	135	Q8NG76	O2T33_HUMAN	N	135	ENSP00000324687:S135N	ENSP00000324687:S135N	S	-	2	0	OR2T33	246503336	0.000000	0.05858	0.035000	0.18076	0.134000	0.20937	-1.032000	0.03574	-0.619000	0.05648	0.494000	0.49563	AGC		PASS	0.592	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		10	76	10	76	---	---	---	---
SNTG2	54221	broad.mit.edu	37	2	1204904	1204904	+	Missense_Mutation	SNP	C	C	T	rs200559818		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr2:1204904C>T	ENST00000308624.5	+	9	836	c.707C>T	c.(706-708)aCg>aTg	p.T236M	SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Missense_Mutation_p.T109M	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	236					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)	p.T236M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		AAAGCCGGAACGGAAAAATTA	0.542																																						uc002qwq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)	3						c.(706-708)ACG>ATG		syntrophin, gamma 2		C	MET/THR	1,3903		0,1,1951	139.0	143.0	142.0		707	3.1	0.0	2		142	1,8319		0,1,4159	no	missense	SNTG2	NM_018968.3	81	0,2,6110	TT,TC,CC		0.012,0.0256,0.0164	probably-damaging	236/540	1204904	2,12222	1952	4160	6112	SO:0001583	missense	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1204904C>T	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.707C>T	2.37:g.1204904C>T	ENSP00000311837:p.Thr236Met					SNTG2_uc010ewi.2_Missense_Mutation_p.T109M	p.T236M	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	9	835	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	236					Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.707C>T	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.149126	0.37923	2.56E-4	1.2E-4	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.57273	0.41;0.41	4.03	3.14	0.36123	.	0.293517	0.37348	N	0.002125	T	0.48150	0.1484	M	0.80422	2.495	0.54753	D	0.999989	P;P	0.42757	0.789;0.539	B;B	0.30495	0.116;0.037	T	0.55256	-0.8169	10	0.54805	T	0.06	.	11.2723	0.49147	0.0:0.9077:0.0:0.0923	.	109;236	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	M	236;109	ENSP00000311837:T236M;ENSP00000385020:T109M	ENSP00000311837:T236M	T	+	2	0	SNTG2	1194904	0.957000	0.32711	0.034000	0.17996	0.765000	0.43378	1.191000	0.32138	0.788000	0.33755	0.453000	0.30009	ACG		PASS	0.542	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		8	122	8	122	---	---	---	---
PXDN	7837	broad.mit.edu	37	2	1652584	1652584	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr2:1652584G>T	ENST00000252804.4	-	17	3018	c.2968C>A	c.(2968-2970)Ctg>Atg	p.L990M		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	990					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.L990M(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CGGAACCACAGCGTGTGCATG	0.647																																						uc002qxa.2																			1	Substitution - Missense(1)		lung(1)	pancreas(6)|ovary(2)	8						c.(2968-2970)CTG>ATG		peroxidasin precursor							27.0	28.0	27.0					2																	1652584		2163	4260	6423	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652584G>T	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2968C>A	2.37:g.1652584G>T	ENSP00000252804:p.Leu990Met						p.L990M	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	3032	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	990					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.2968C>A	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215089	0.58452	.	.	ENSG00000130508	ENST00000252804	T	0.73047	-0.71	5.49	5.49	0.81192	.	0.079141	0.52532	D	0.000061	D	0.82935	0.5145	M	0.84585	2.705	0.45747	D	0.998647	P	0.50272	0.933	D	0.63793	0.918	D	0.84506	0.0619	10	0.62326	D	0.03	-33.5492	9.6986	0.40171	0.1595:0.0:0.8405:0.0	.	990	Q92626	PXDN_HUMAN	M	990	ENSP00000252804:L990M	ENSP00000252804:L990M	L	-	1	2	PXDN	1631591	0.951000	0.32395	1.000000	0.80357	0.997000	0.91878	1.852000	0.39348	2.596000	0.87737	0.558000	0.71614	CTG		PASS	0.647	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		3	8	3	8	---	---	---	---
APOB	338	broad.mit.edu	37	2	21231683	21231683	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr2:21231683C>T	ENST00000233242.1	-	26	8184	c.8057G>A	c.(8056-8058)tGg>tAg	p.W2686*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2686					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.W2686*(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGAACGGGCCACTGCAGCTC	0.443																																						uc002red.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(8056-8058)TGG>TAG		apolipoprotein B precursor	Atorvastatin(DB01076)						146.0	152.0	150.0					2																	21231683		2203	4300	6503	SO:0001587	stop_gained	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231683C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8057G>A	2.37:g.21231683C>T	ENSP00000233242:p.Trp2686*						p.W2686*	NM_000384	NP_000375	P04114	APOB_HUMAN			26	8185	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2686					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Nonsense_Mutation	SNP	ENST00000233242.1	37	c.8057G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	48	14.755899	0.99809	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	.	.	.	5.22	5.22	0.72569	.	0.151480	0.31554	N	0.007454	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6337	0.62210	0.1942:0.8058:0.0:0.0	.	.	.	.	X	2686	.	ENSP00000233242:W2686X	W	-	2	0	APOB	21085188	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	2.853000	0.48317	2.437000	0.82529	0.561000	0.74099	TGG		PASS	0.443	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			19	92	19	92	---	---	---	---
MPV17	4358	broad.mit.edu	37	2	27535960	27535960	+	Silent	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr2:27535960C>A	ENST00000380044.1	-	3	142	c.87G>T	c.(85-87)ctG>ctT	p.L29L	MPV17_ENST00000402310.1_Silent_p.L29L|MPV17_ENST00000357186.6_Intron|MPV17_ENST00000405076.1_Silent_p.L29L|MPV17_ENST00000405983.1_Silent_p.L44L|MPV17_ENST00000403262.2_Silent_p.L29L|MPV17_ENST00000233545.2_Silent_p.L29L|MPV17_ENST00000402722.1_Intron	NM_002437.4	NP_002428.1	P39210	MPV17_HUMAN	MpV17 mitochondrial inner membrane protein	29					cellular response to reactive oxygen species (GO:0034614)|glomerular basement membrane development (GO:0032836)|homeostatic process (GO:0042592)|inner ear development (GO:0048839)|mitochondrial genome maintenance (GO:0000002)|reactive oxygen species metabolic process (GO:0072593)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)		p.L44L(1)|p.L29L(1)		lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAATGTCACCCAGGCCCATCA	0.602																																						uc002rjr.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(85-87)CTG>CTT		Mpv17 protein							84.0	83.0	83.0					2																	27535960		2203	4300	6503	SO:0001819	synonymous_variant	4358				cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane		g.chr2:27535960C>A		CCDS1748.1	2p23.3	2008-02-05	2006-05-12		ENSG00000115204	ENSG00000115204			7224	protein-coding gene	gene with protein product	"""glomerulosclerosis"""	137960	"""MpV17 transgene, murine homolog, glomerulosclerosis"""			8281143, 16582910	Standard	XM_005264326		Approved	SYM1	uc002rjs.3	P39210	OTTHUMG00000097074	ENST00000380044.1:c.87G>T	2.37:g.27535960C>A						MPV17_uc002rjq.2_Silent_p.L29L|MPV17_uc002rjs.2_Silent_p.L29L|MPV17_uc002rjt.2_Intron	p.L29L	NM_002437	NP_002428	P39210	MPV17_HUMAN			2	134	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		29			Helical; (Potential).		D6W555|Q53SY2|Q96B08	Silent	SNP	ENST00000380044.1	37	c.87G>T	CCDS1748.1	.	.	.	.	.	.	.	.	.	.	C	8.978	0.974706	0.18736	.	.	ENSG00000115204	ENST00000430991	.	.	.	5.37	0.446	0.16602	.	.	.	.	.	T	0.54647	0.1871	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45934	-0.9227	4	.	.	.	.	7.9775	0.30164	0.0:0.5643:0.0:0.4357	.	.	.	.	L	6	.	.	W	-	2	0	MPV17	27389464	0.974000	0.33945	0.999000	0.59377	0.973000	0.67179	-0.042000	0.12063	0.121000	0.18284	-0.208000	0.12717	TGG		PASS	0.602	MPV17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214193.1	NM_002437		21	34	21	34	---	---	---	---
ALK	238	broad.mit.edu	37	2	29917817	29917817	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr2:29917817C>T	ENST00000389048.3	-	3	1757	c.851G>A	c.(850-852)aGg>aAg	p.R284K	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	284	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R284K(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GCTCTGGTTCCTGAGGTCATG	0.572			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002rmy.2			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(850-852)AGG>AAG		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						98.0	96.0	96.0					2																	29917817		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29917817C>T	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.851G>A	2.37:g.29917817C>T	ENSP00000373700:p.Arg284Lys						p.R284K	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			3	1758	-	Acute lymphoblastic leukemia(172;0.155)		284			MAM 1.|Extracellular (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.851G>A	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	9.439	1.087472	0.20390	.	.	ENSG00000171094	ENST00000389048	T	0.76316	-1.01	5.97	5.97	0.96955	Concanavalin A-like lectin/glucanase (1);MAM domain (1);	.	.	.	.	T	0.61236	0.2331	N	0.08118	0	0.80722	D	1	B	0.17268	0.021	B	0.24394	0.053	T	0.56932	-0.7897	8	.	.	.	.	15.924	0.79597	0.0:1.0:0.0:0.0	.	284	Q9UM73	ALK_HUMAN	K	284	ENSP00000373700:R284K	.	R	-	2	0	ALK	29771321	0.778000	0.28640	0.129000	0.21949	0.442000	0.32017	2.749000	0.47492	2.828000	0.97474	0.655000	0.94253	AGG		PASS	0.572	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		13	63	13	63	---	---	---	---
ZNF638	27332	broad.mit.edu	37	2	71654035	71654035	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr2:71654035G>A	ENST00000409544.1	+	24	5666	c.5036G>A	c.(5035-5037)cGc>cAc	p.R1679H	ZNF638_ENST00000409407.1_Missense_Mutation_p.R619H|ZNF638_ENST00000264447.4_Missense_Mutation_p.R1679H|ZNF638_ENST00000355812.3_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1679					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R1679H(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AAACAGGAACGCTTGGTAACT	0.393																																						uc002shx.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(5035-5037)CGC>CAC		zinc finger protein 638							91.0	91.0	91.0					2																	71654035		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71654035G>A	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.5036G>A	2.37:g.71654035G>A	ENSP00000386433:p.Arg1679His					ZNF638_uc002shy.2_Missense_Mutation_p.R1679H|ZNF638_uc002shz.2_Missense_Mutation_p.R1679H|ZNF638_uc002sia.2_Missense_Mutation_p.R1679H|ZNF638_uc002sib.1_3'UTR|ZNF638_uc010fed.2_Intron|ZNF638_uc002sic.2_Missense_Mutation_p.R776H|ZNF638_uc002sid.2_Missense_Mutation_p.R48H	p.R1679H	NM_014497	NP_055312	Q14966	ZN638_HUMAN			24	5355	+			1679					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.5036G>A	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699132	0.68501	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	T;T;T	0.33216	1.42;1.42;1.81	5.85	4.95	0.65309	.	0.122405	0.38058	N	0.001826	T	0.30103	0.0754	N	0.14661	0.345	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.60682	0.878;0.759	T	0.04737	-1.0930	10	0.59425	D	0.04	-3.8635	7.196	0.25853	0.0938:0.2173:0.6888:0.0	.	1679;1679	Q14966-3;Q14966	.;ZN638_HUMAN	H	1679;1679;619	ENSP00000264447:R1679H;ENSP00000386433:R1679H;ENSP00000386813:R619H	ENSP00000264447:R1679H	R	+	2	0	ZNF638	71507543	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.920000	0.48844	2.773000	0.95371	0.655000	0.94253	CGC		PASS	0.393	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		22	49	22	49	---	---	---	---
C2orf78	388960	broad.mit.edu	37	2	74043169	74043169	+	Silent	SNP	C	C	A	rs376718778		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr2:74043169C>A	ENST00000409561.1	+	3	1940	c.1819C>A	c.(1819-1821)Cgg>Agg	p.R607R		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	607	Lys-rich.							p.R577R(1)|p.R607R(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CAATATGAAACGGAAGAAAAA	0.443																																						uc002sjr.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1819-1821)CGG>AGG		hypothetical protein LOC388960							90.0	86.0	87.0					2																	74043169		1856	4103	5959	SO:0001819	synonymous_variant	388960							g.chr2:74043169C>A	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.1819C>A	2.37:g.74043169C>A							p.R607R	NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN			3	1940	+			607			Lys-rich.			Silent	SNP	ENST00000409561.1	37	c.1819C>A	CCDS46338.1																																																																																				PASS	0.443	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		12	89	12	89	---	---	---	---
HK2	3099	broad.mit.edu	37	2	75101429	75101429	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr2:75101429G>T	ENST00000290573.2	+	7	1328	c.728G>T	c.(727-729)cGc>cTc	p.R243L	HK2_ENST00000409174.1_Missense_Mutation_p.R215L	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	243	Hexokinase type-2 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.R243L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GAAGAGATGCGCCACATCGAC	0.612																																						uc002snd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(727-729)CGC>CTC		hexokinase 2							60.0	58.0	59.0					2																	75101429		2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75101429G>T		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.728G>T	2.37:g.75101429G>T	ENSP00000290573:p.Arg243Leu						p.R243L	NM_000189	NP_000180	P52789	HXK2_HUMAN			7	2654	+			243			Regulatory.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.728G>T	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774540	0.49786	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	T;T	0.11930	2.73;2.73	4.63	3.76	0.43208	Hexokinase, C-terminal (1);	0.044956	0.85682	D	0.000000	T	0.31857	0.0810	M	0.88906	2.99	0.80722	D	1	P	0.52316	0.952	P	0.52386	0.697	T	0.21793	-1.0235	10	0.49607	T	0.09	-12.6003	10.7763	0.46353	0.093:0.0:0.907:0.0	.	243	P52789	HXK2_HUMAN	L	243;243;215	ENSP00000290573:R243L;ENSP00000387140:R215L	ENSP00000290573:R243L	R	+	2	0	HK2	74954937	1.000000	0.71417	0.997000	0.53966	0.483000	0.33249	7.747000	0.85070	1.312000	0.45043	-0.136000	0.14681	CGC		PASS	0.612	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		5	25	5	25	---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80530229	80530229	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr2:80530229C>A	ENST00000295057.3	-	2	1372	c.716G>T	c.(715-717)tGc>tTc	p.C239F	CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.C239F	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	239					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.C239F(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CCTCCGCAGGCAGAGCGAGTG	0.582										HNSCC(69;0.2)																												uc002sok.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(715-717)TGC>TTC		leucine rich repeat transmembrane neuronal 1							96.0	92.0	93.0					2																	80530229		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530229C>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.716G>T	2.37:g.80530229C>A	ENSP00000295057:p.Cys239Phe	HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.C239F	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	986	-			239			LRR 7.|Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.716G>T	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	C	5.836	0.338468	0.11069	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.79247	-1.25;-1.25	5.26	4.32	0.51571	.	0.210998	0.42420	U	0.000710	T	0.53270	0.1786	N	0.04508	-0.205	0.44104	D	0.996872	B	0.02656	0.0	B	0.04013	0.001	T	0.50659	-0.8802	9	.	.	.	.	10.4454	0.44490	0.1497:0.7057:0.1446:0.0	.	239	Q86UE6	LRRT1_HUMAN	F	239	ENSP00000295057:C239F;ENSP00000386646:C239F	.	C	-	2	0	LRRTM1	80383740	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.130000	0.50508	2.416000	0.81992	0.655000	0.94253	TGC		PASS	0.582	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		14	67	14	67	---	---	---	---
CD8A	925	broad.mit.edu	37	2	87017709	87017709	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr2:87017709T>C	ENST00000409511.2	-	5	1175	c.145A>G	c.(145-147)Aac>Gac	p.N49D	CD8A_ENST00000538832.1_Missense_Mutation_p.N90D|CD8A_ENST00000283635.3_Missense_Mutation_p.N49D|CD8A_ENST00000456996.2_Missense_Mutation_p.N49D|CD8A_ENST00000409781.1_Missense_Mutation_p.N49D|CD8A_ENST00000352580.3_Missense_Mutation_p.N49D	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	49	Ig-like V-type.				antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)	p.N49D(1)		lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GACGTCGGGTTGGACAGCAGC	0.682																																						uc002srt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(145-147)AAC>GAC		CD8 antigen alpha polypeptide isoform 1							34.0	38.0	37.0					2																	87017709		2203	4295	6498	SO:0001583	missense	925				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87017709T>C		CCDS1992.1, CCDS1993.1	2p12	2014-09-17	2006-03-28		ENSG00000153563	ENSG00000153563		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1706	protein-coding gene	gene with protein product		186910	"""CD8 antigen, alpha polypeptide (p32)"", ""T-cell surface glycoprotein CD8 alpha chain"""	CD8		1541829	Standard	NM_171827		Approved		uc002sru.3	P01732	OTTHUMG00000130265	ENST00000409511.2:c.145A>G	2.37:g.87017709T>C	ENSP00000386559:p.Asn49Asp					RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Missense_Mutation_p.N49D|CD8A_uc010ytn.1_Missense_Mutation_p.N90D|CD8A_uc002sru.2_Missense_Mutation_p.N49D	p.N49D	NM_001768	NP_001759	P01732	CD8A_HUMAN			2	1034	-			49			Ig-like V-type.|Extracellular (Potential).		B4DT80|D6W5M8|Q13970|Q4ZG17	Missense_Mutation	SNP	ENST00000409511.2	37	c.145A>G	CCDS1992.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.627880	0.28978	.	.	ENSG00000153563	ENST00000456996;ENST00000352580;ENST00000283635;ENST00000409511;ENST00000442577;ENST00000538832;ENST00000409781	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	4.3	0.122	0.14702	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	1.925070	0.01947	N	0.042340	T	0.50257	0.1605	L	0.41710	1.295	0.09310	N	1	B;B;B	0.16166	0.016;0.0;0.001	B;B;B	0.10450	0.005;0.0;0.002	T	0.12734	-1.0536	10	0.27082	T	0.32	-3.7094	3.1168	0.06377	0.1769:0.2077:0.0:0.6154	.	90;49;49	B4DT80;P01732-2;P01732	.;.;CD8A_HUMAN	D	49;49;49;49;49;90;49	ENSP00000398868:N49D;ENSP00000321631:N49D;ENSP00000283635:N49D;ENSP00000386559:N49D;ENSP00000438371:N90D;ENSP00000387314:N49D	ENSP00000283635:N49D	N	-	1	0	CD8A	86871220	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.532000	0.06164	0.186000	0.20125	0.459000	0.35465	AAC		PASS	0.682	CD8A-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330784.3	NM_001768		6	42	6	42	---	---	---	---
TEKT4	150483	broad.mit.edu	37	2	95542358	95542358	+	Silent	SNP	A	A	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr2:95542358A>G	ENST00000295201.4	+	6	1289	c.1152A>G	c.(1150-1152)ctA>ctG	p.L384L	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	384					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.L384L(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						AGAAGCTTCTAGAAGCGGAGC	0.602																																						uc002stw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(1150-1152)CTA>CTG		tektin 4							54.0	45.0	48.0					2																	95542358		2203	4300	6503	SO:0001819	synonymous_variant	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95542358A>G	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.1152A>G	2.37:g.95542358A>G						uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	p.L384L	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN			6	1245	+			384			Potential.			Silent	SNP	ENST00000295201.4	37	c.1152A>G	CCDS2005.1																																																																																				PASS	0.602	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		9	16	9	16	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125367414	125367414	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr2:125367414A>C	ENST00000431078.1	+	12	2154	c.1790A>C	c.(1789-1791)cAg>cCg	p.Q597P		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	597	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.Q597L(1)|p.Q597P(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TACAGGCACCAGGGGAATACA	0.532																																						uc002tno.2																			2	Substitution - Missense(2)		lung(2)	ovary(10)	10						c.(1789-1791)CAG>CCG		contactin associated protein-like 5 precursor							71.0	70.0	70.0					2																	125367414		1866	4103	5969	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125367414A>C	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1790A>C	2.37:g.125367414A>C	ENSP00000399013:p.Gln597Pro					CNTNAP5_uc010flu.2_Missense_Mutation_p.Q598P	p.Q597P	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	12	2154	+			597			Extracellular (Potential).|Fibrinogen C-terminal.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1790A>C	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.043571	0.36085	.	.	ENSG00000155052	ENST00000431078	T	0.10382	2.88	5.55	1.76	0.24704	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.315505	0.22742	N	0.056199	T	0.06508	0.0167	L	0.28115	0.83	0.22639	N	0.998909	B	0.33000	0.393	B	0.28011	0.085	T	0.34775	-0.9815	10	0.30854	T	0.27	.	8.429	0.32746	0.698:0.0:0.302:0.0	.	597	Q8WYK1	CNTP5_HUMAN	P	597	ENSP00000399013:Q597P	ENSP00000399013:Q597P	Q	+	2	0	CNTNAP5	125083884	0.000000	0.05858	0.998000	0.56505	0.920000	0.55202	-0.051000	0.11885	0.117000	0.18138	0.533000	0.62120	CAG		PASS	0.532	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			20	46	20	46	---	---	---	---
MAP3K19	80122	broad.mit.edu	37	2	135744864	135744864	+	Silent	SNP	A	A	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr2:135744864A>G	ENST00000375845.3	-	7	1608	c.1578T>C	c.(1576-1578)aaT>aaC	p.N526N	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.N543N|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.N413N	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	526							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.N526N(1)									TATGCTTGTCATTTTCTTGGT	0.413																																						uc002tue.1																			1	Substitution - coding silent(1)		lung(1)	stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.(1576-1578)AAT>AAC		Yeast Sps1/Ste20-related kinase 4 isoform 1							190.0	181.0	184.0					2																	135744864		2203	4300	6503	SO:0001819	synonymous_variant	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135744864A>G	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1578T>C	2.37:g.135744864A>G						YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.N413N|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Silent_p.N254N|YSK4_uc002tui.3_Silent_p.N543N	p.N526N	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	7	1609	-			526					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Silent	SNP	ENST00000375845.3	37	c.1578T>C	CCDS2176.2																																																																																				PASS	0.413	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		21	40	21	40	---	---	---	---
LY75	4065	broad.mit.edu	37	2	160755282	160755282	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr2:160755282C>A	ENST00000263636.4	-	2	410	c.383G>T	c.(382-384)gGa>gTa	p.G128V	LY75_ENST00000554112.1_Missense_Mutation_p.G128V|LY75_ENST00000553424.1_Missense_Mutation_p.G128V|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.G128V|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.G128V	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	128	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.G128V(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TGTGCCATGTCCATCCTTCAG	0.522																																						uc002ubc.3																			1	Substitution - Missense(1)		lung(1)		0						c.(382-384)GGA>GTA		lymphocyte antigen 75 precursor							87.0	80.0	82.0					2																	160755282		2203	4300	6503	SO:0001583	missense	4065				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160755282C>A	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.383G>T	2.37:g.160755282C>A	ENSP00000263636:p.Gly128Val					LY75_uc002ubb.3_Missense_Mutation_p.G128V|LY75_uc010fos.2_Missense_Mutation_p.G128V|LY75_uc010fot.1_Missense_Mutation_p.G128V	p.G128V	NM_002349	NP_002340	O60449	LY75_HUMAN		COAD - Colon adenocarcinoma(177;0.132)	2	452	-			128			Extracellular (Potential).|Ricin B-type lectin.		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.383G>T	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.626230	0.28978	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.92	5.04	0.67666	Ricin B-related lectin (1);Ricin B lectin (1);	0.237595	0.21547	N	0.072781	T	0.62877	0.2464	M	0.81239	2.535	0.30796	N	0.740427	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.993;0.979;1.0	T	0.67681	-0.5608	10	0.72032	D	0.01	-10.8364	7.8344	0.29362	0.1249:0.6893:0.1203:0.0655	.	128;128;128	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	V	128	ENSP00000451511:G128V;ENSP00000451446:G128V;ENSP00000263636:G128V;ENSP00000423463:G128V;ENSP00000421035:G128V	ENSP00000423463:G128V	G	-	2	0	LY75;LY75-CD302	160463528	0.039000	0.19947	0.312000	0.25196	0.000000	0.00434	1.466000	0.35310	1.510000	0.48803	-0.169000	0.13324	GGA		PASS	0.522	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			6	29	6	29	---	---	---	---
SLC4A10	57282	broad.mit.edu	37	2	162833288	162833288	+	Silent	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr2:162833288C>A	ENST00000446997.1	+	25	3339	c.3246C>A	c.(3244-3246)atC>atA	p.I1082I	SLC4A10_ENST00000375514.5_Silent_p.I1063I|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000415876.2_Silent_p.I1052I|SLC4A10_ENST00000272716.5_Silent_p.I1052I	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	1082					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.I1052I(1)|p.I1082I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	CATCTGTGATCAATATATCTG	0.363																																						uc002ubx.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(2)|pancreas(1)	5						c.(3244-3246)ATC>ATA		solute carrier family 4, sodium bicarbonate							53.0	49.0	51.0					2																	162833288		1836	4080	5916	SO:0001819	synonymous_variant	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162833288C>A		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.3246C>A	2.37:g.162833288C>A						SLC4A10_uc002uby.3_Silent_p.I1052I|SLC4A10_uc010zcs.1_Silent_p.I1063I	p.I1082I	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			25	3430	+			1082			Cytoplasmic (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Silent	SNP	ENST00000446997.1	37	c.3246C>A	CCDS54411.1																																																																																				PASS	0.363	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		6	15	6	15	---	---	---	---
KLHL41	10324	broad.mit.edu	37	2	170366615	170366615	+	Silent	SNP	G	G	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr2:170366615G>A	ENST00000284669.1	+	1	404	c.327G>A	c.(325-327)ttG>ttA	p.L109L	BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	109					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)		p.L109L(1)									TTTTTGCATTGGCCAGCCGCT	0.413																																						uc002ueu.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(325-327)TTG>TTA		kelch repeat and BTB (POZ) domain containing 10							117.0	124.0	121.0					2																	170366615		2203	4300	6503	SO:0001819	synonymous_variant	10324				striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle		g.chr2:170366615G>A	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.327G>A	2.37:g.170366615G>A						KBTBD10_uc010zdh.1_Intron	p.L109L	NM_006063	NP_006054	O60662	KBTBA_HUMAN			1	404	+			109					Q53R42	Silent	SNP	ENST00000284669.1	37	c.327G>A	CCDS2234.1																																																																																				PASS	0.413	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		13	64	13	64	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179593012	179593012	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr2:179593012C>A	ENST00000591111.1	-	65	18812	c.18588G>T	c.(18586-18588)caG>caT	p.Q6196H	TTN_ENST00000589042.1_Missense_Mutation_p.Q6513H|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q5269H|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12976	Ig-like 43.				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.Q5269H(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)			CCTTAAACCACTGAGCACTAA	0.383																																						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.(15805-15807)CAG>CAT		titin isoform N2-A							74.0	70.0	71.0					2																	179593012		1865	4095	5960	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179593012C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18588G>T	2.37:g.179593012C>A	ENSP00000465570:p.Gln6196His					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Q1930H	p.Q5269H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		64	16031	-			6196					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.15807G>T		.	.	.	.	.	.	.	.	.	.	C	7.081	0.570294	0.13560	.	.	ENSG00000155657	ENST00000342992	T	0.68025	-0.3	5.78	1.88	0.25563	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53626	0.1808	L	0.48362	1.52	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.48801	-0.9003	9	0.87932	D	0	.	3.8955	0.09138	0.219:0.4682:0.2139:0.0988	.	6196	Q8WZ42	TITIN_HUMAN	H	5269	ENSP00000343764:Q5269H	ENSP00000343764:Q5269H	Q	-	3	2	TTN	179301257	0.440000	0.25618	0.999000	0.59377	0.998000	0.95712	-0.236000	0.09003	0.127000	0.18452	0.591000	0.81541	CAG		PASS	0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	29	13	29	---	---	---	---
MOB4	25843	broad.mit.edu	37	2	198380840	198380840	+	Silent	SNP	G	G	C			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr2:198380840G>C	ENST00000323303.4	+	1	285	c.30G>C	c.(28-30)ctG>ctC	p.L10L	MOB4_ENST00000409916.1_Intron|MOB4_ENST00000497443.1_3'UTR|MOB4_ENST00000233892.4_Intron|MOB4_ENST00000409360.1_5'Flank|HSPE1-MOB4_ENST00000604458.1_Intron|MOB4_ENST00000448447.2_Silent_p.L10L	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2	Q9Y3A3	PHOCN_HUMAN	MOB family member 4, phocein	10					transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	metal ion binding (GO:0046872)	p.L10L(2)									CGGCAGTGCTGAGGCGGAACA	0.687																																						uc002uun.3																			2	Substitution - coding silent(2)		urinary_tract(1)|lung(1)		0						c.(28-30)CTG>CTC		Mps One Binder kinase activator-like 3 isoform							41.0	42.0	42.0					2																	198380840		2201	4298	6499	SO:0001819	synonymous_variant	25843				transport	Golgi cisterna membrane|perinuclear region of cytoplasm	metal ion binding|protein binding	g.chr2:198380840G>C	AF151853	CCDS2321.1, CCDS2322.1, CCDS46480.1	2q33.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000115540	ENSG00000115540		"""MOB kinase activators"""	17261	protein-coding gene	gene with protein product	"""phocein"", ""phocein, Mob-like protein"""	609361	"""preimplantation protein 3"", ""MOB1, Mps One Binder kinase activator-like 3 (yeast)"""	PREI3, MOBKL3		17853115, 10810093, 11230166, 11319234	Standard	NM_199482		Approved	MOB3, DKFZP564M112, CGI-95, 2C4D, PHOCN		Q9Y3A3	OTTHUMG00000132748	ENST00000323303.4:c.30G>C	2.37:g.198380840G>C						MOBKL3_uc002uum.3_Intron|MOBKL3_uc010fsn.2_Silent_p.L10L|MOBKL3_uc010fso.2_5'UTR|MOBKL3_uc010zgz.1_5'UTR	p.L10L	NM_015387	NP_056202	Q9Y3A3	MOBL3_HUMAN	Epithelial(96;0.225)		1	70	+			10					B4DML0|Q53SE0|Q7Z4Y6|Q9H2P3|Q9H5J1|Q9Y4T8	Silent	SNP	ENST00000323303.4	37	c.30G>C	CCDS2321.1																																																																																				PASS	0.687	MOB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256110.4	NM_015387		3	3	3	3	---	---	---	---
SPATS2L	26010	broad.mit.edu	37	2	201337764	201337764	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr2:201337764G>T	ENST00000358677.5	+	12	1517	c.1270G>T	c.(1270-1272)Gcc>Tcc	p.A424S	SPATS2L_ENST00000409151.1_Missense_Mutation_p.A432S|SPATS2L_ENST00000409718.1_Missense_Mutation_p.A424S|SPATS2L_ENST00000409140.3_Missense_Mutation_p.A424S|SPATS2L_ENST00000409755.3_Missense_Mutation_p.A454S|SPATS2L_ENST00000451764.2_Missense_Mutation_p.A424S|SPATS2L_ENST00000409385.1_Missense_Mutation_p.A364S|SPATS2L_ENST00000360760.5_Missense_Mutation_p.A355S|SPATS2L_ENST00000409988.3_Missense_Mutation_p.A424S|SPATS2L_ENST00000460095.1_Intron	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	424						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)	p.A454S(1)|p.A424S(1)		endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						GACCATGCCGGCCAACAAGCA	0.522																																						uc002uvn.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(1270-1272)GCC>TCC		SPATS2-like protein isoform a							22.0	25.0	24.0					2																	201337764		1911	4128	6039	SO:0001583	missense	26010					cytoplasm|nucleolus		g.chr2:201337764G>T	AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"""DNA polymerase transactivated protein 6"""	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.1270G>T	2.37:g.201337764G>T	ENSP00000351503:p.Ala424Ser					SPATS2L_uc010fst.2_Missense_Mutation_p.A424S|SPATS2L_uc002uvo.3_Missense_Mutation_p.A364S|SPATS2L_uc002uvp.3_Missense_Mutation_p.A424S|SPATS2L_uc002uvq.3_Missense_Mutation_p.A355S|SPATS2L_uc002uvr.3_Missense_Mutation_p.A424S|SPATS2L_uc010zhc.1_Missense_Mutation_p.A454S	p.A424S	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN			12	1622	+			424					A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Missense_Mutation	SNP	ENST00000358677.5	37	c.1270G>T	CCDS46483.1	.	.	.	.	.	.	.	.	.	.	G	5.392	0.257594	0.10239	.	.	ENSG00000196141	ENST00000409718;ENST00000358677;ENST00000409988;ENST00000409385;ENST00000451764;ENST00000360760;ENST00000409140;ENST00000409755;ENST00000409151	.	.	.	5.39	0.852	0.18995	.	0.578922	0.17645	N	0.166896	T	0.18593	0.0446	N	0.19112	0.55	0.09310	N	1	B;B;B	0.26845	0.104;0.161;0.044	B;B;B	0.25140	0.058;0.033;0.036	T	0.14337	-1.0476	9	0.31617	T	0.26	6.0E-4	4.6091	0.12392	0.357:0.3376:0.3053:0.0	.	454;355;424	B4DT67;Q9NUQ6-2;Q9NUQ6	.;.;SPS2L_HUMAN	S	424;424;424;364;424;355;424;454;432	.	ENSP00000351503:A424S	A	+	1	0	SPATS2L	201046009	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	0.441000	0.21611	-0.034000	0.13713	-0.175000	0.13238	GCC		PASS	0.522	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535		6	11	6	11	---	---	---	---
CFLAR	8837	broad.mit.edu	37	2	202005138	202005138	+	Silent	SNP	C	C	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr2:202005138C>T	ENST00000309955.3	+	5	1097	c.582C>T	c.(580-582)ctC>ctT	p.L194L	CFLAR-AS1_ENST00000474886.2_RNA|CFLAR_ENST00000440180.1_Silent_p.L194L|CFLAR_ENST00000423241.2_Silent_p.L194L|CFLAR_ENST00000340870.5_Silent_p.L194L|CFLAR_ENST00000457277.1_Silent_p.L194L|CFLAR_ENST00000342795.5_Silent_p.L194L|CFLAR_ENST00000341582.6_Silent_p.L194L|CFLAR_ENST00000341222.6_Silent_p.L194L|CFLAR_ENST00000355558.4_Silent_p.L194L|CFLAR_ENST00000443227.1_Silent_p.L98L|CFLAR_ENST00000479953.2_Silent_p.L98L|RNU7-45P_ENST00000459460.1_RNA|CFLAR_ENST00000494258.1_Silent_p.L98L|CFLAR-AS1_ENST00000415011.2_RNA	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	194	Interaction with FADD.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)	p.L194L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						AAAAGAGTCTCAAGGATCCTT	0.388																																					Pancreas(16;548 657 22190 32864 42338)	uc002uxb.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(580-582)CTC>CTT		CASP8 and FADD-like apoptosis regulator isoform							118.0	119.0	118.0					2																	202005138		2203	4300	6503	SO:0001819	synonymous_variant	8837				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	g.chr2:202005138C>T	AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"""Endogenous ligands"""	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.582C>T	2.37:g.202005138C>T						CFLAR_uc002uwz.2_Silent_p.L194L|CFLAR_uc002uxa.3_Silent_p.L194L|CFLAR_uc010zhk.1_Silent_p.L98L|CFLAR_uc002uxc.3_Silent_p.L194L|CFLAR_uc010zhl.1_Silent_p.L98L|CFLAR_uc010fsw.1_RNA|CFLAR_uc002uxd.3_Silent_p.L194L|CFLAR_uc002uxe.2_Silent_p.L194L|CFLAR_uc002uxf.2_Silent_p.L194L|CFLAR_uc010fsy.2_RNA|CFLAR_uc010fsx.2_Silent_p.L194L|CFLAR_uc010zhm.1_Silent_p.L98L|CFLAR_uc010fsz.2_5'UTR|CFLAR_uc002uxg.2_5'UTR|uc002uxh.1_RNA	p.L194L	NM_003879	NP_003870	O15519	CFLAR_HUMAN			5	1034	+			194			Interaction with caspase-8 propeptide.|Interaction with FADD.|Interaction with caspase-3.|Not proteolytically processed and involved in apoptosis inhibition.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-8.		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Silent	SNP	ENST00000309955.3	37	c.582C>T	CCDS2337.1																																																																																				PASS	0.388	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879		9	82	9	82	---	---	---	---
FN1	2335	broad.mit.edu	37	2	216289955	216289955	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr2:216289955G>T	ENST00000359671.1	-	7	1163	c.898C>A	c.(898-900)Ccc>Acc	p.P300T	FN1_ENST00000421182.1_Missense_Mutation_p.P300T|FN1_ENST00000446046.1_Missense_Mutation_p.P300T|FN1_ENST00000345488.5_Missense_Mutation_p.P300T|FN1_ENST00000336916.4_Missense_Mutation_p.P300T|FN1_ENST00000356005.4_Missense_Mutation_p.P300T|FN1_ENST00000346544.3_Missense_Mutation_p.P300T|FN1_ENST00000357867.4_Missense_Mutation_p.P300T|FN1_ENST00000443816.1_Missense_Mutation_p.P300T|FN1_ENST00000357009.2_Missense_Mutation_p.P300T|FN1_ENST00000426059.1_Missense_Mutation_p.P300T|FN1_ENST00000354785.4_Missense_Mutation_p.P300T|FN1_ENST00000432072.2_Missense_Mutation_p.P300T|FN1_ENST00000323926.6_Missense_Mutation_p.P300T			P02751	FINC_HUMAN	fibronectin 1	300					acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.P300T(2)|p.P300S(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GGAGGCTGGGGGTGAGGCTGC	0.522																																						uc002vfa.2																			3	Substitution - Missense(3)	p.P300S(1)	lung(2)|central_nervous_system(1)	central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(898-900)CCC>ACC		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						129.0	128.0	128.0					2																	216289955		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216289955G>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.898C>A	2.37:g.216289955G>T	ENSP00000352696:p.Pro300Thr					FN1_uc002vfb.2_Missense_Mutation_p.P300T|FN1_uc002vfc.2_Missense_Mutation_p.P300T|FN1_uc002vfd.2_Missense_Mutation_p.P300T|FN1_uc002vfe.2_Missense_Mutation_p.P300T|FN1_uc002vff.2_Missense_Mutation_p.P300T|FN1_uc002vfg.2_Missense_Mutation_p.P300T|FN1_uc002vfh.2_Missense_Mutation_p.P300T|FN1_uc002vfi.2_Missense_Mutation_p.P300T|FN1_uc002vfj.2_Missense_Mutation_p.P300T|FN1_uc002vfl.2_Missense_Mutation_p.P300T	p.P300T	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	1164	-		Renal(323;0.127)	300					B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.898C>A		.	.	.	.	.	.	.	.	.	.	G	16.37	3.103002	0.56183	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.45276	0.9;2.26;2.44;0.98;2.49;2.15;2.49;2.15;2.44;2.18;1.68;0.98;1.57;1.57	5.83	4.96	0.65561	.	0.222203	0.32608	N	0.005869	T	0.53400	0.1794	M	0.61703	1.905	0.48341	D	0.999637	B;P;B;B;P;B;B;P;P;P;B	0.52577	0.001;0.751;0.002;0.14;0.491;0.239;0.004;0.954;0.491;0.491;0.405	B;B;B;B;B;B;B;P;B;B;B	0.55713	0.002;0.413;0.005;0.146;0.144;0.069;0.021;0.782;0.144;0.144;0.361	T	0.56980	-0.7889	10	0.72032	D	0.01	.	10.7958	0.46459	0.1431:0.0:0.8569:0.0	.	300;300;300;300;300;300;300;300;300;300;300	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	T	300	ENSP00000394423:P300T;ENSP00000323534:P300T;ENSP00000338200:P300T;ENSP00000350534:P300T;ENSP00000346839:P300T;ENSP00000352696:P300T;ENSP00000265312:P300T;ENSP00000273049:P300T;ENSP00000349509:P300T;ENSP00000410422:P300T;ENSP00000415018:P300T;ENSP00000399538:P300T;ENSP00000348285:P300T;ENSP00000398907:P300T	ENSP00000265313:P300T	P	-	1	0	FN1	215998200	1.000000	0.71417	0.435000	0.26784	0.883000	0.51084	4.276000	0.58933	1.478000	0.48253	0.563000	0.77884	CCC		PASS	0.522	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		12	97	12	97	---	---	---	---
TMPPE	643853	broad.mit.edu	37	3	33134425	33134425	+	Silent	SNP	T	T	C			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr3:33134425T>C	ENST00000342462.4	-	2	1453	c.1263A>G	c.(1261-1263)acA>acG	p.T421T	GLB1_ENST00000399402.3_Intron|GLB1_ENST00000445488.2_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000307377.8_Intron|TMPPE_ENST00000416695.2_Silent_p.T284T	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	421						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.T421T(1)		breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						CATACACGAATGTAGCCTGGG	0.567																																						uc003cfk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1261-1263)ACA>ACG		transmembrane protein with							88.0	79.0	82.0					3																	33134425		2203	4300	6503	SO:0001819	synonymous_variant	643853					integral to membrane	metal ion binding	g.chr3:33134425T>C	AK126979	CCDS33732.1, CCDS46786.1	3p22.3	2014-02-12	2009-02-24		ENSG00000188167	ENSG00000188167			33865	protein-coding gene	gene with protein product							Standard	NM_001039770		Approved	FLJ45032	uc003cfk.2	Q6ZT21	OTTHUMG00000155779	ENST00000342462.4:c.1263A>G	3.37:g.33134425T>C						GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Silent_p.T284T	p.T421T	NM_001039770	NP_001034859	Q6ZT21	TMPPE_HUMAN			2	1454	-			421					B2RNG5|Q6ZRG1	Silent	SNP	ENST00000342462.4	37	c.1263A>G	CCDS33732.1																																																																																				PASS	0.567	TMPPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341566.1	NM_001039770		10	11	10	11	---	---	---	---
EXOG	9941	broad.mit.edu	37	3	38539221	38539221	+	Missense_Mutation	SNP	C	C	T	rs371616022	byFrequency	TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr3:38539221C>T	ENST00000287675.5	+	2	361	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	EXOG_ENST00000358249.2_5'UTR|EXOG_ENST00000422077.2_Intron	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	89					DNA catabolic process, endonucleolytic (GO:0000737)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.R89W(1)		central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TCAGGCAAAGCGGGTGCCTAG	0.398													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16400	0.0		0.0	False		,,,				2504	0.0					uc003cih.2																			1	Substitution - Missense(1)		lung(1)		0						c.(265-267)CGG>TGG		endo/exonuclease (5'-3'), endonuclease G-like		C	TRP/ARG,	1,4405	2.1+/-5.4	0,1,2202	100.0	101.0	101.0		265,	4.5	1.0	3		101	0,8600		0,0,4300	no	missense,intron	EXOG	NM_005107.3,NM_001145464.1	101,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,	89/369,	38539221	1,13005	2203	4300	6503	SO:0001583	missense	9941					mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	g.chr3:38539221C>T	AB020523	CCDS2680.1, CCDS46795.1	3p21.3	2010-05-07	2009-01-08	2009-01-08	ENSG00000157036	ENSG00000157036	3.1.30.-		3347	protein-coding gene	gene with protein product		604051	"""endonuclease G-like 1"", ""endonuclease G-like 2"""	ENDOGL1, ENDOGL2		10231028, 18187503	Standard	NM_005107		Approved	ENGL-a, ENGL, ENGL-b	uc003cih.2	Q9Y2C4	OTTHUMG00000131295	ENST00000287675.5:c.265C>T	3.37:g.38539221C>T	ENSP00000287675:p.Arg89Trp					EXOG_uc010hhg.2_Intron|EXOG_uc011ayq.1_Intron|EXOG_uc003cij.2_5'UTR|EXOG_uc010hhd.2_Intron|EXOG_uc010hhe.2_Intron|EXOG_uc003cik.2_5'UTR|EXOG_uc010hhf.2_5'UTR|EXOG_uc003cii.2_Intron	p.R89W	NM_005107	NP_005098	Q9Y2C4	EXOG_HUMAN			2	361	+			89					A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Missense_Mutation	SNP	ENST00000287675.5	37	c.265C>T	CCDS2680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.110127|4.110127	0.77210|0.77210	2.27E-4|2.27E-4	0.0|0.0	ENSG00000157036|ENSG00000157036	ENST00000453767|ENST00000287675	.|T	.|0.70399	.|-0.48	5.37|5.37	4.48|4.48	0.54585|0.54585	.|DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	.|0.000000	.|0.64402	.|D	.|0.000002	D|D	0.88440|0.88440	0.6437|0.6437	H|H	0.96015|0.96015	3.755|3.755	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	D|D	0.91589|0.91589	0.5285|0.5285	5|9	.|.	.|.	.|.	-19.487|-19.487	13.2305|13.2305	0.59941|0.59941	0.2888:0.7112:0.0:0.0|0.2888:0.7112:0.0:0.0	.|.	.|89	.|Q9Y2C4	.|EXOG_HUMAN	V|W	51|89	.|ENSP00000287675:R89W	.|.	A|R	+|+	2|1	0|2	EXOG|EXOG	38514225|38514225	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.973000|1.973000	0.40550|0.40550	1.456000|1.456000	0.47831|0.47831	0.563000|0.563000	0.77884|0.77884	GCG|CGG		PASS	0.398	EXOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254063.2	NM_005107		12	28	12	28	---	---	---	---
MON1A	84315	broad.mit.edu	37	3	49947570	49947570	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr3:49947570C>T	ENST00000417270.1	-	5	2078	c.1385G>A	c.(1384-1386)aGc>aAc	p.S462N	MON1A_ENST00000483022.1_5'Flank|MON1A_ENST00000296473.3_Missense_Mutation_p.S551N|MON1A_ENST00000455683.2_Missense_Mutation_p.S389N|CTD-2330K9.3_ENST00000419183.1_Intron			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	454								p.S454N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GAGTCCCGAGCTCTTTGACTT	0.612																																						uc003cxz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1651-1653)AGC>AAC		MON1 homolog A isoform a							74.0	79.0	77.0					3																	49947570		2203	4300	6503	SO:0001583	missense	84315						protein binding	g.chr3:49947570C>T	AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"""MON1 homolog A (yeast)"""			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000417270.1:c.1385G>A	3.37:g.49947570C>T	ENSP00000399613:p.Ser462Asn					MON1A_uc003cya.2_Missense_Mutation_p.S389N|MON1A_uc003cyb.2_Missense_Mutation_p.S389N	p.S551N	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	4	1778	-			454					B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Missense_Mutation	SNP	ENST00000417270.1	37	c.1652G>A		.	.	.	.	.	.	.	.	.	.	C	27.1	4.800178	0.90538	.	.	ENSG00000164077	ENST00000296473;ENST00000417270;ENST00000455683	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.78799	0.4340	M	0.62266	1.93	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.976	D;D;D	0.85130	0.997;0.997;0.935	T	0.74572	-0.3621	8	.	.	.	-20.8869	20.8794	0.99867	0.0:1.0:0.0:0.0	.	292;389;454	Q86VX9-3;G5E9N1;Q86VX9	.;.;MON1A_HUMAN	N	551;462;389	.	.	S	-	2	0	MON1A	49922574	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.369000	0.79578	2.941000	0.99782	0.655000	0.94253	AGC		PASS	0.612	MON1A-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000345538.2	NM_032355		18	57	18	57	---	---	---	---
OR5AC2	81050	broad.mit.edu	37	3	97806723	97806723	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr3:97806723G>A	ENST00000358642.2	+	1	707	c.707G>A	c.(706-708)aGa>aAa	p.R236K		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	236					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R236K(1)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						GAAAAGGGCAGAAGCAAAGCC	0.408																																						uc011bgs.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(706-708)AGA>AAA		olfactory receptor, family 5, subfamily AC,							58.0	54.0	56.0					3																	97806723		2203	4300	6503	SO:0001583	missense	81050				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97806723G>A	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.707G>A	3.37:g.97806723G>A	ENSP00000351466:p.Arg236Lys						p.R236K	NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN			1	707	+			236			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000358642.2	37	c.707G>A	CCDS33796.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412216	0.62511	.	.	ENSG00000196578	ENST00000358642	T	0.00301	8.21	4.42	0.359	0.16088	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40469	U	0.001085	T	0.00300	0.0009	L	0.46885	1.475	0.09310	N	0.999998	P	0.51933	0.949	P	0.60609	0.877	T	0.52704	-0.8540	10	0.52906	T	0.07	-26.4727	3.5911	0.07989	0.0855:0.1446:0.4721:0.2978	.	236	Q9NZP5	O5AC2_HUMAN	K	236	ENSP00000351466:R236K	ENSP00000351466:R236K	R	+	2	0	OR5AC2	99289413	0.000000	0.05858	0.287000	0.24848	0.922000	0.55478	0.311000	0.19380	-0.105000	0.12132	0.523000	0.50628	AGA		PASS	0.408	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1			6	40	6	40	---	---	---	---
PHLDB2	90102	broad.mit.edu	37	3	111632221	111632221	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr3:111632221A>T	ENST00000431670.2	+	3	1802	c.1391A>T	c.(1390-1392)gAc>gTc	p.D464V	PHLDB2_ENST00000393923.3_Missense_Mutation_p.D491V|PHLDB2_ENST00000412622.1_Missense_Mutation_p.D464V|PHLDB2_ENST00000477695.1_Missense_Mutation_p.D464V|PHLDB2_ENST00000393925.3_Missense_Mutation_p.D464V|PHLDB2_ENST00000481953.1_Missense_Mutation_p.D464V|PHLDB2_ENST00000495180.1_Missense_Mutation_p.D50V	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	464						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)		p.D464V(2)|p.D491V(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ACAAAGCCTGACAGTCGCTTA	0.517																																						uc010hqa.2																			3	Substitution - Missense(3)		lung(3)	ovary(4)|skin(2)	6						c.(1390-1392)GAC>GTC		pleckstrin homology-like domain, family B,							119.0	117.0	117.0					3																	111632221		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111632221A>T		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1391A>T	3.37:g.111632221A>T	ENSP00000405405:p.Asp464Val					PHLDB2_uc003dyc.2_Missense_Mutation_p.D491V|PHLDB2_uc003dyd.2_Missense_Mutation_p.D464V|PHLDB2_uc003dyg.2_Missense_Mutation_p.D464V|PHLDB2_uc003dyh.2_Missense_Mutation_p.D464V|PHLDB2_uc003dyi.2_Missense_Mutation_p.D50V|PHLDB2_uc003dyf.3_Missense_Mutation_p.D464V	p.D464V	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			3	1802	+			464					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.1391A>T	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.700640	0.68501	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000477695;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.39787	1.07;1.09;1.08;1.06;1.09;1.08;1.52	5.67	5.67	0.87782	.	0.370336	0.31392	N	0.007723	T	0.56804	0.2010	M	0.65975	2.015	0.53005	D	0.999963	P;P;P;P;P	0.49783	0.664;0.624;0.928;0.741;0.836	B;B;P;P;P	0.56042	0.296;0.261;0.79;0.504;0.603	T	0.60026	-0.7343	10	0.62326	D	0.03	.	13.4115	0.60946	1.0:0.0:0.0:0.0	.	50;464;464;464;491	E9PGF6;Q86SQ0;G5E9V3;Q86SQ0-2;Q86SQ0-3	.;PHLB2_HUMAN;.;.;.	V	491;491;464;464;464;464;464;464;50	ENSP00000377500:D491V;ENSP00000405405:D464V;ENSP00000405292:D464V;ENSP00000418296:D464V;ENSP00000377502:D464V;ENSP00000418319:D464V;ENSP00000420303:D50V	ENSP00000352764:D491V	D	+	2	0	PHLDB2	113114911	1.000000	0.71417	0.891000	0.34965	0.614000	0.37383	6.001000	0.70685	2.159000	0.67721	0.533000	0.62120	GAC		PASS	0.517	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		66	81	66	81	---	---	---	---
CCDC14	64770	broad.mit.edu	37	3	123650002	123650002	+	Silent	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr3:123650002C>A	ENST00000488653.2	-	12	1959	c.1869G>T	c.(1867-1869)ggG>ggT	p.G623G	CCDC14_ENST00000310351.4_Silent_p.G463G|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_Silent_p.G423G|CCDC14_ENST00000485727.1_Silent_p.G423G|CCDC14_ENST00000433542.2_Silent_p.G582G			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	623					substantia nigra development (GO:0021762)	centrosome (GO:0005813)		p.G582G(1)|p.G463G(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		GTAATGTTATCCCCAATATCT	0.368																																						uc011bjx.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1867-1869)GGG>GGT		coiled-coil domain containing 14							82.0	82.0	82.0					3																	123650002		2203	4300	6503	SO:0001819	synonymous_variant	64770					centrosome		g.chr3:123650002C>A	AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.1869G>T	3.37:g.123650002C>A						CCDC14_uc003egv.3_Silent_p.G264G|CCDC14_uc003egx.3_Silent_p.G423G|CCDC14_uc010hrt.2_Silent_p.G582G|CCDC14_uc003egy.3_Silent_p.G423G|CCDC14_uc003egz.2_Silent_p.G423G	p.G623G	NM_022757	NP_073594	Q49A88	CCD14_HUMAN		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)	12	1960	-		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)	623					B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Silent	SNP	ENST00000488653.2	37	c.1869G>T		.	.	.	.	.	.	.	.	.	.	C	9.108	1.005885	0.19199	.	.	ENSG00000175455	ENST00000479903	T	0.60171	0.21	5.17	-1.8	0.07907	.	0.142631	0.44285	D	0.000479	T	0.47340	0.1440	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29366	-1.0014	7	0.36615	T	0.2	.	2.4837	0.04594	0.1226:0.3941:0.1843:0.299	.	.	.	.	V	205	ENSP00000420768:G205V	ENSP00000420768:G205V	G	-	2	0	CCDC14	125132692	0.968000	0.33430	1.000000	0.80357	0.975000	0.68041	-0.136000	0.10405	0.056000	0.16144	-0.253000	0.11424	GGA		PASS	0.368	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757		11	39	11	39	---	---	---	---
ASTE1	28990	broad.mit.edu	37	3	130743391	130743391	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr3:130743391G>A	ENST00000264992.3	-	3	1201	c.760C>T	c.(760-762)Cac>Tac	p.H254Y	NEK11_ENST00000383366.4_5'Flank|NEK11_ENST00000412440.2_5'Flank|NEK11_ENST00000511262.1_5'Flank|NEK11_ENST00000356918.4_5'Flank|ASTE1_ENST00000514044.1_Missense_Mutation_p.H254Y|NEK11_ENST00000510688.1_5'Flank|NEK11_ENST00000510769.1_5'Flank|NEK11_ENST00000429253.2_5'Flank	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	254					DNA repair (GO:0006281)		nuclease activity (GO:0004518)	p.H254Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						AGGATTCGGTGGTGTCTCCTC	0.438																																						uc003env.1																			1	Substitution - Missense(1)		lung(1)		0						c.(760-762)CAC>TAC		asteroid homolog 1							70.0	65.0	67.0					3																	130743391		2203	4300	6503	SO:0001583	missense	28990				DNA repair		nuclease activity	g.chr3:130743391G>A	AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.760C>T	3.37:g.130743391G>A	ENSP00000264992:p.His254Tyr					NEK11_uc003enx.2_5'Flank|NEK11_uc003eny.2_5'Flank|NEK11_uc003eoa.2_5'Flank|NEK11_uc003enz.2_5'Flank|NEK11_uc010htn.2_5'Flank|NEK11_uc011blk.1_5'Flank|NEK11_uc011bll.1_5'Flank|NEK11_uc003enw.1_5'Flank|NEK11_uc011blm.1_5'Flank|ASTE1_uc010htm.1_Missense_Mutation_p.H254Y|ASTE1_uc011blj.1_RNA	p.H254Y	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN			3	1202	-			254					B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	ENST00000264992.3	37	c.760C>T	CCDS3068.1	.	.	.	.	.	.	.	.	.	.	G	7.880	0.729955	0.15507	.	.	ENSG00000034533	ENST00000514044;ENST00000264992;ENST00000446270	.	.	.	5.54	4.66	0.58398	.	0.628220	0.18822	N	0.130217	T	0.32466	0.0830	L	0.51422	1.61	0.28541	N	0.912088	P;P	0.51933	0.949;0.949	P;P	0.46208	0.507;0.507	T	0.15407	-1.0438	9	0.22109	T	0.4	-2.7765	5.6606	0.17667	0.0756:0.1382:0.6436:0.1426	.	254;254	D6RG30;Q2TB18	.;ASTE1_HUMAN	Y	254	.	ENSP00000264992:H254Y	H	-	1	0	ASTE1	132226081	0.563000	0.26594	0.998000	0.56505	0.962000	0.63368	0.265000	0.18515	1.333000	0.45449	0.561000	0.74099	CAC		PASS	0.438	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		28	25	28	25	---	---	---	---
TFDP2	7029	broad.mit.edu	37	3	141697362	141697362	+	Splice_Site	SNP	C	C	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr3:141697362C>T	ENST00000489671.1	-	7	949	c.519G>A	c.(517-519)tcG>tcA	p.S173S	TFDP2_ENST00000499676.2_Splice_Site_p.S112S|TFDP2_ENST00000486111.1_Splice_Site_p.S112S|TFDP2_ENST00000464782.1_5'Flank|TFDP2_ENST00000467072.1_Splice_Site_p.S112S|TFDP2_ENST00000310282.6_Splice_Site_p.S112S|TFDP2_ENST00000317104.7_Splice_Site_p.S96S|TFDP2_ENST00000479040.1_Splice_Site_p.S112S|TFDP2_ENST00000397991.4_Splice_Site_p.S145S|TFDP2_ENST00000495310.1_Splice_Site_p.S76S|TFDP2_ENST00000477292.1_Splice_Site_p.S37S			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	173					gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.S173S(1)		kidney(1)|upper_aerodigestive_tract(2)	3						ATTTACATACCGAATCAGCAG	0.383																																						uc003eun.3																			1	Substitution - coding silent(1)		lung(1)	kidney(1)	1						c.(517-519)TCG>TCA		transcription factor Dp-2 (E2F dimerization							155.0	146.0	149.0					3																	141697362		1972	4170	6142	SO:0001630	splice_region_variant	7029				cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding	g.chr3:141697362C>T	U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.519+1G>A	3.37:g.141697362C>T						TFDP2_uc003euk.3_Silent_p.S86S|TFDP2_uc010hur.2_Silent_p.S112S|TFDP2_uc003eul.3_Silent_p.S112S|TFDP2_uc011bnf.1_Silent_p.S76S|TFDP2_uc011bng.1_Silent_p.S37S|TFDP2_uc003eum.3_Silent_p.S112S	p.S173S	NM_006286	NP_006277	Q14188	TFDP2_HUMAN			7	898	-			173			Potential.		B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Silent	SNP	ENST00000489671.1	37	c.519G>A	CCDS54650.1																																																																																				PASS	0.383	TFDP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353294.4	NM_006286	Silent	12	151	12	151	---	---	---	---
ZIC4	84107	broad.mit.edu	37	3	147108988	147108988	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr3:147108988A>C	ENST00000383075.3	-	4	1246	c.734T>G	c.(733-735)tTc>tGc	p.F245C	ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000491672.1_Missense_Mutation_p.F39C|ZIC4_ENST00000473123.1_Missense_Mutation_p.F245C|ZIC4_ENST00000484399.1_Missense_Mutation_p.F245C|ZIC4_ENST00000525172.2_Missense_Mutation_p.F295C|ZIC4_ENST00000425731.3_Missense_Mutation_p.F283C	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	245						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F245C(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCTGTTGGCGAAGCGCCGCTC	0.617																																						uc003ewd.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(733-735)TTC>TGC		zinc finger protein of the cerebellum 4							33.0	35.0	35.0					3																	147108988		2201	4300	6501	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147108988A>C	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.734T>G	3.37:g.147108988A>C	ENSP00000372553:p.Phe245Cys					ZIC4_uc003ewc.1_Missense_Mutation_p.F175C|ZIC4_uc011bno.1_Missense_Mutation_p.F295C	p.F245C	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN			4	1007	-			245			C2H2-type 4.		A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.734T>G	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.227607	0.79576	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	4.94	4.94	0.65067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48286	D	0.000185	T	0.70378	0.3217	M	0.90425	3.115	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80883	-0.1183	9	0.87932	D	0	.	14.612	0.68522	1.0:0.0:0.0:0.0	.	295;245	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	C	245;283;295;245;245;39	ENSP00000372553:F245C;ENSP00000397695:F283C;ENSP00000435509:F295C;ENSP00000417855:F245C;ENSP00000420775:F245C;ENSP00000418277:F39C	ENSP00000372553:F245C	F	-	2	0	ZIC4	148591678	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.228000	0.78079	1.847000	0.53656	0.379000	0.24179	TTC		PASS	0.617	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			35	19	35	19	---	---	---	---
CP	1356	broad.mit.edu	37	3	148917542	148917542	+	Silent	SNP	G	G	A	rs144537170	byFrequency	TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr3:148917542G>A	ENST00000264613.6	-	8	1720	c.1458C>T	c.(1456-1458)aaC>aaT	p.N486N	CP_ENST00000462336.1_5'Flank	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	486	F5/8 type A 2.|Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.N486N(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	ATGTGCCCTCGTTGTTCTTAT	0.443																																						uc003ewy.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1456-1458)AAC>AAT		ceruloplasmin precursor	Drotrecogin alfa(DB00055)	G		2,4404	4.2+/-10.8	0,2,2201	245.0	218.0	227.0		1458	-6.2	0.0	3	dbSNP_134	227	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	CP	NM_000096.3		0,7,6496	AA,AG,GG		0.0581,0.0454,0.0538		486/1066	148917542	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148917542G>A	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.1458C>T	3.37:g.148917542G>A						CP_uc011bnr.1_RNA|CP_uc003ewx.3_Silent_p.N267N|CP_uc003ewz.2_Silent_p.N486N|CP_uc010hvf.1_Silent_p.N212N	p.N486N	NM_000096	NP_000087	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		8	1711	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	486			Plastocyanin-like 3.|F5/8 type A 2.		Q14063|Q2PP18|Q9UKS4	Silent	SNP	ENST00000264613.6	37	c.1458C>T	CCDS3141.1																																																																																				PASS	0.443	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		32	218	32	218	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151148142	151148142	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr3:151148142T>C	ENST00000474524.1	+	42	6397	c.6359T>C	c.(6358-6360)gTg>gCg	p.V2120A	MED12L_ENST00000273432.4_Missense_Mutation_p.V1784A	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2120	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.V2120A(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCCGCCTTGGTGCGGCAGCTC	0.537																																						uc003eyp.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(6358-6360)GTG>GCG		mediator of RNA polymerase II transcription,							49.0	52.0	51.0					3																	151148142		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151148142T>C	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6359T>C	3.37:g.151148142T>C	ENSP00000417235:p.Val2120Ala					MED12L_uc011bnz.1_Missense_Mutation_p.V1784A	p.V2120A	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		42	6397	+			2120			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.6359T>C	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.592182	0.86953	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.61510	0.24;0.1	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.64735	0.2625	L	0.32530	0.975	0.80722	D	1	P;P	0.52577	0.954;0.924	D;P	0.65140	0.932;0.857	T	0.67063	-0.5765	10	0.56958	D	0.05	-8.1538	13.8742	0.63643	0.0:0.0:0.0:1.0	.	1784;2120	F8WAE6;Q86YW9	.;MD12L_HUMAN	A	2120;1784	ENSP00000417235:V2120A;ENSP00000273432:V1784A	ENSP00000273432:V1784A	V	+	2	0	MED12L	152630832	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.383000	0.66219	1.930000	0.55929	0.528000	0.53228	GTG		PASS	0.537	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		7	65	7	65	---	---	---	---
MBNL1	4154	broad.mit.edu	37	3	152174130	152174130	+	Missense_Mutation	SNP	G	G	T	rs533774724		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr3:152174130G>T	ENST00000463374.1	+	7	1601	c.1090G>T	c.(1090-1092)Gca>Tca	p.A364S	MBNL1_ENST00000324196.5_Silent_p.L294L|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000282488.7_Missense_Mutation_p.A278S|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000485509.1_Silent_p.L294L|MBNL1_ENST00000493459.1_Missense_Mutation_p.A319S|MBNL1_ENST00000355460.2_Missense_Mutation_p.A346S|MBNL1_ENST00000545754.1_Missense_Mutation_p.A290S|RP11-362A9.3_ENST00000463255.1_RNA|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000485910.1_Missense_Mutation_p.A278S|MBNL1_ENST00000324210.5_Missense_Mutation_p.A358S|MBNL1_ENST00000282486.6_Missense_Mutation_p.A364S	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	364					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A364S(1)|p.A290S(1)|p.L294L(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TCCCTTCGCTGCAACAGCCAC	0.488																																						uc003ezm.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(1090-1092)GCA>TCA		muscleblind-like 1 isoform c							158.0	163.0	161.0					3																	152174130		2203	4300	6503	SO:0001583	missense	4154				embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding	g.chr3:152174130G>T	Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"""Zinc fingers, CCCH-type domain containing"""	6923	protein-coding gene	gene with protein product		606516	"""muscleblind (Drosophila)-like"", ""muscleblind-like (Drosophila)"""	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.1090G>T	3.37:g.152174130G>T	ENSP00000418108:p.Ala364Ser					MBNL1_uc003ezh.2_Missense_Mutation_p.A358S|MBNL1_uc003ezi.2_Missense_Mutation_p.A346S|MBNL1_uc003ezj.2_Missense_Mutation_p.A319S|MBNL1_uc003ezl.2_Intron|MBNL1_uc003ezp.2_Silent_p.L294L|MBNL1_uc003ezn.2_Missense_Mutation_p.A290S|MBNL1_uc003ezo.2_Missense_Mutation_p.A278S|MBNL1_uc010hvp.2_Intron	p.A364S	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		7	1879	+			364					E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP	ENST00000463374.1	37	c.1090G>T	CCDS3165.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966537	0.74131	.	.	ENSG00000152601	ENST00000282486;ENST00000282488;ENST00000355460;ENST00000493459;ENST00000324210;ENST00000545754;ENST00000485910;ENST00000463374;ENST00000465907	.	.	.	5.51	5.51	0.81932	.	0.159001	0.53938	D	0.000042	T	0.67720	0.2923	L	0.29908	0.895	0.80722	D	1	D;B;B;B;D;D	0.89917	0.996;0.031;0.005;0.009;1.0;1.0	D;B;B;B;D;D	0.87578	0.987;0.055;0.019;0.008;0.998;0.998	T	0.67031	-0.5773	9	0.42905	T	0.14	.	19.4328	0.94778	0.0:0.0:1.0:0.0	.	278;290;364;319;346;358	Q9NR56-3;Q96RE3;Q9NR56;Q86VM6;Q9NR56-2;Q96P92	.;.;MBNL1_HUMAN;.;.;.	S	364;278;346;319;358;290;278;364;290	.	ENSP00000282486:A364S	A	+	1	0	MBNL1	153656820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.449000	0.80643	2.584000	0.87258	0.563000	0.77884	GCA		PASS	0.488	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1	NM_021038		17	103	17	103	---	---	---	---
LRRC31	79782	broad.mit.edu	37	3	169569470	169569470	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr3:169569470G>T	ENST00000316428.5	-	7	1153	c.1096C>A	c.(1096-1098)Cca>Aca	p.P366T	LRRC31_ENST00000264676.5_Missense_Mutation_p.P310T|LRRC31_ENST00000397805.2_5'Flank|LRRC31_ENST00000523069.1_Missense_Mutation_p.P366T	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	366								p.P366T(1)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TTCAATGCTGGTAAAAATCGG	0.403																																						uc003fgc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1096-1098)CCA>ACA		leucine rich repeat containing 31							130.0	125.0	126.0					3																	169569470		1852	4097	5949	SO:0001583	missense	79782							g.chr3:169569470G>T	AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.1096C>A	3.37:g.169569470G>T	ENSP00000325978:p.Pro366Thr					LRRC31_uc010hwp.1_Missense_Mutation_p.P310T	p.P366T	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)		7	1173	-	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		366					B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	ENST00000316428.5	37	c.1096C>A	CCDS43167.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765488	0.69878	.	.	ENSG00000114248	ENST00000316428;ENST00000264676;ENST00000523069	T;T;T	0.53206	0.63;0.63;0.63	4.89	4.89	0.63831	.	0.190114	0.46442	D	0.000298	T	0.69441	0.3111	M	0.84511	2.7	0.37419	D	0.913578	D;D	0.89917	1.0;0.998	D;P	0.91635	0.999;0.905	T	0.71377	-0.4611	10	0.08599	T	0.76	-0.2978	18.0547	0.89361	0.0:0.0:1.0:0.0	.	310;366	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	T	366;310;366	ENSP00000325978:P366T;ENSP00000264676:P310T;ENSP00000429145:P366T	ENSP00000264676:P310T	P	-	1	0	LRRC31	171052164	1.000000	0.71417	0.918000	0.36340	0.905000	0.53344	6.281000	0.72632	2.264000	0.75181	0.462000	0.41574	CCA		PASS	0.403	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727		28	97	28	97	---	---	---	---
GHSR	2693	broad.mit.edu	37	3	172165779	172165779	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr3:172165779T>A	ENST00000241256.2	-	1	467	c.425A>T	c.(424-426)tAc>tTc	p.Y142F	GHSR_ENST00000427970.1_Missense_Mutation_p.Y142F	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	142					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.Y142F(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GATGGCGAAGTAGCGCTCGAC	0.617																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	uc003fib.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(1)|central_nervous_system(1)	5						c.(424-426)TAC>TTC		growth hormone secretagogue receptor isoform 1a							65.0	61.0	63.0					3																	172165779		2203	4300	6503	SO:0001583	missense	2693				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	g.chr3:172165779T>A	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.425A>T	3.37:g.172165779T>A	ENSP00000241256:p.Tyr142Phe					GHSR_uc011bpv.1_Missense_Mutation_p.Y142F	p.Y142F	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		1	425	-	Ovarian(172;0.00143)|Breast(254;0.197)		142			Cytoplasmic (Potential).		Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	ENST00000241256.2	37	c.425A>T	CCDS3218.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.731241	0.89390	.	.	ENSG00000121853	ENST00000241256;ENST00000427970	D;D	0.87029	-2.2;-2.2	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.93194	0.7832	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93645	0.6968	10	0.56958	D	0.05	-26.9029	15.5196	0.75854	0.0:0.0:0.0:1.0	.	142;142	Q92847-2;Q92847	.;GHSR_HUMAN	F	142	ENSP00000241256:Y142F;ENSP00000395344:Y142F	ENSP00000241256:Y142F	Y	-	2	0	GHSR	173648473	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.040000	0.89188	2.078000	0.62432	0.254000	0.18369	TAC		PASS	0.617	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		29	13	29	13	---	---	---	---
HTR3E	285242	broad.mit.edu	37	3	183823602	183823602	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr3:183823602C>A	ENST00000415389.2	+	7	1236	c.770C>A	c.(769-771)cCc>cAc	p.P257H	HTR3E_ENST00000425359.2_Missense_Mutation_p.P242H|HTR3E_ENST00000440596.2_Missense_Mutation_p.P283H|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000335304.2_Missense_Mutation_p.P272H|HTR3E_ENST00000436361.2_Missense_Mutation_p.P257H	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	257					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.P272H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CTTCTCGTGCCCAGTGGCTTT	0.552																																					Melanoma(7;227 727 6634 44770)	uc010hxq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(769-771)CCC>CAC		5-hydroxytryptamine receptor 3 subunit E							146.0	127.0	133.0					3																	183823602		2203	4300	6503	SO:0001583	missense	285242					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183823602C>A	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.770C>A	3.37:g.183823602C>A	ENSP00000401444:p.Pro257His					HTR3E_uc003fml.3_Missense_Mutation_p.P242H|HTR3E_uc003fmm.2_Missense_Mutation_p.P272H|HTR3E_uc010hxr.2_Missense_Mutation_p.P283H|HTR3E_uc003fmn.2_Missense_Mutation_p.P257H	p.P257H	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		7	1236	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		257			Helical; Name=1; (Potential).		A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	ENST00000415389.2	37	c.770C>A	CCDS58868.1	.	.	.	.	.	.	.	.	.	.	c	16.42	3.119022	0.56505	.	.	ENSG00000186038	ENST00000415389;ENST00000425359;ENST00000335304;ENST00000436361;ENST00000440596	D;D;D;D;D	0.99382	-5.8;-5.8;-5.8;-5.8;-5.8	3.67	3.67	0.42095	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.64402	U	0.000004	D	0.99539	0.9835	H	0.95328	3.655	0.46131	D	0.998886	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.97859	1.0279	10	0.87932	D	0	.	13.247	0.60028	0.0:1.0:0.0:0.0	.	283;257;257;272;242	E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2	.;5HT3E_HUMAN;.;.;.	H	257;242;272;257;283	ENSP00000401444:P257H;ENSP00000401900:P242H;ENSP00000335511:P272H;ENSP00000395833:P257H;ENSP00000406050:P283H	ENSP00000335511:P272H	P	+	2	0	HTR3E	185306296	1.000000	0.71417	0.988000	0.46212	0.328000	0.28507	5.502000	0.66956	2.040000	0.60383	0.655000	0.94253	CCC		PASS	0.552	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589		19	143	19	143	---	---	---	---
RTP2	344892	broad.mit.edu	37	3	187416621	187416621	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr3:187416621C>A	ENST00000358241.1	-	2	771	c.343G>T	c.(343-345)Gag>Tag	p.E115*		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	115					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)	p.E115*(1)		large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		ACCAGGCCCTCGATGTTCTCC	0.677																																						uc003fro.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(343-345)GAG>TAG		receptor transporting protein 2							26.0	23.0	24.0					3																	187416621		2203	4295	6498	SO:0001587	stop_gained	344892				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:187416621C>A	AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"""Receptor transporter proteins"""	32486	protein-coding gene	gene with protein product	"""receptor transporting protein 2"", ""zinc finger, 3CxxC-type 2"""	609138	"""receptor transporter protein 2"""			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.343G>T	3.37:g.187416621C>A	ENSP00000350976:p.Glu115*						p.E115*	NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)	2	772	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		115			Cytoplasmic (Potential).		Q6NVH4	Nonsense_Mutation	SNP	ENST00000358241.1	37	c.343G>T	CCDS33911.1	.	.	.	.	.	.	.	.	.	.	C	39	7.301344	0.98196	.	.	ENSG00000198471	ENST00000358241	.	.	.	4.04	4.04	0.47022	.	0.263285	0.43260	D	0.000586	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-32.0284	11.9954	0.53198	0.0:1.0:0.0:0.0	.	.	.	.	X	115	.	ENSP00000350976:E115X	E	-	1	0	RTP2	188899315	0.924000	0.31332	1.000000	0.80357	0.994000	0.84299	0.854000	0.27791	2.552000	0.86080	0.462000	0.41574	GAG		PASS	0.677	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344259.1	NM_001004312		19	22	19	22	---	---	---	---
ATP13A5	344905	broad.mit.edu	37	3	193061839	193061839	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr3:193061839C>G	ENST00000342358.4	-	9	937	c.820G>C	c.(820-822)Gag>Cag	p.E274Q		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	274						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.E274Q(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TCCAGCTCCTCCAAACCTACA	0.418																																						uc011bsq.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|large_intestine(2)	11						c.(820-822)GAG>CAG		ATPase type 13A5							59.0	59.0	59.0					3																	193061839		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193061839C>G	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.820G>C	3.37:g.193061839C>G	ENSP00000341942:p.Glu274Gln						p.E274Q	NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	9	820	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		274					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.820G>C	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	2.899	-0.227889	0.06022	.	.	ENSG00000187527	ENST00000342358	D	0.89939	-2.59	5.57	4.69	0.59074	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.170338	0.42172	N	0.000744	T	0.73822	0.3636	N	0.05487	-0.04	0.23940	N	0.996408	B	0.09022	0.002	B	0.09377	0.004	T	0.56613	-0.7950	10	0.09338	T	0.73	-5.7527	9.3073	0.37883	0.0:0.1867:0.6627:0.1505	.	274	Q4VNC0	AT135_HUMAN	Q	274	ENSP00000341942:E274Q	ENSP00000341942:E274Q	E	-	1	0	ATP13A5	194544533	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.642000	0.37207	1.465000	0.48006	-0.219000	0.12488	GAG		PASS	0.418	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		17	58	17	58	---	---	---	---
ZFYVE28	57732	broad.mit.edu	37	4	2343208	2343208	+	Silent	SNP	G	G	A	rs74965159		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr4:2343208G>A	ENST00000290974.2	-	3	654	c.315C>T	c.(313-315)gcC>gcT	p.A105A	ZFYVE28_ENST00000515169.1_Silent_p.A35A|ZFYVE28_ENST00000515312.1_Silent_p.A35A|ZFYVE28_ENST00000511071.1_Silent_p.A105A|ZFYVE28_ENST00000505421.1_5'Flank|ZFYVE28_ENST00000509171.1_Silent_p.A58A|ZFYVE28_ENST00000503000.1_Silent_p.A105A	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	105					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.A105A(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCGCTACCTCGGCACCGAACC	0.662													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15419	0.0		0.0	False		,,,				2504	0.0					uc003gex.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(313-315)GCC>GCT		zinc finger, FYVE domain containing 28		G	,,,,,	1,4405		0,1,2202	26.0	29.0	28.0		315,315,174,105,105,315	-1.4	0.9	4	dbSNP_131	28	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZFYVE28	NM_001172656.1,NM_001172657.1,NM_001172658.1,NM_001172659.1,NM_001172660.1,NM_020972.2	,,,,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,,,,	105/858,105/288,58/173,35/818,35/164,105/888	2343208	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2343208G>A	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.315C>T	4.37:g.2343208G>A						ZFYVE28_uc011bvk.1_Silent_p.A35A|ZFYVE28_uc011bvl.1_Silent_p.A105A|ZFYVE28_uc003gey.3_Silent_p.A35A|ZFYVE28_uc003gez.2_Silent_p.A58A|ZFYVE28_uc003gew.1_5'Flank	p.A105A	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN			3	634	-			105					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Silent	SNP	ENST00000290974.2	37	c.315C>T	CCDS33942.1																																																																																				PASS	0.662	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		5	11	5	11	---	---	---	---
CPZ	8532	broad.mit.edu	37	4	8613866	8613866	+	Missense_Mutation	SNP	C	C	A	rs200017497		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr4:8613866C>A	ENST00000360986.4	+	8	1514	c.1340C>A	c.(1339-1341)gCg>gAg	p.A447E	CPZ_ENST00000315782.6_Missense_Mutation_p.A436E|CPZ_ENST00000382480.2_Missense_Mutation_p.A310E|CPZ_ENST00000429646.2_Missense_Mutation_p.A55E	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	447					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.A447E(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ATCAACGGGGCGGACTGGTAC	0.652																																						uc003glm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1339-1341)GCG>GAG		carboxypeptidase Z isoform 1							54.0	49.0	51.0					4																	8613866		2202	4299	6501	SO:0001583	missense	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8613866C>A	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1340C>A	4.37:g.8613866C>A	ENSP00000354255:p.Ala447Glu					CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.A310E|CPZ_uc003glo.2_Missense_Mutation_p.A436E|CPZ_uc003glp.2_RNA	p.A447E	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN			8	1466	+			447					O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.1340C>A	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889795	0.91889	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782;ENST00000429646	T;T;T;T	0.10668	2.85;2.85;2.85;2.85	4.19	4.19	0.49359	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.47432	0.1445	H	0.96015	3.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68187	-0.5475	10	0.87932	D	0	-20.2876	16.8862	0.86076	0.0:1.0:0.0:0.0	.	436;447	Q66K79-2;Q66K79	.;CBPZ_HUMAN	E	447;310;436;55	ENSP00000354255:A447E;ENSP00000371920:A310E;ENSP00000315074:A436E;ENSP00000403981:A55E	ENSP00000315074:A436E	A	+	2	0	CPZ	8664766	1.000000	0.71417	0.983000	0.44433	0.990000	0.78478	5.247000	0.65416	2.056000	0.61249	0.655000	0.94253	GCG		PASS	0.652	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		11	3	11	3	---	---	---	---
LPHN3	23284	broad.mit.edu	37	4	62801650	62801650	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr4:62801650T>A	ENST00000514591.1	+	14	2431	c.2102T>A	c.(2101-2103)gTt>gAt	p.V701D	LPHN3_ENST00000504896.1_Missense_Mutation_p.V701D|LPHN3_ENST00000507164.1_Missense_Mutation_p.V769D|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000506700.1_Missense_Mutation_p.V701D|LPHN3_ENST00000508693.1_Missense_Mutation_p.V769D|LPHN3_ENST00000506720.1_Missense_Mutation_p.V769D|LPHN3_ENST00000509896.1_Missense_Mutation_p.V769D|LPHN3_ENST00000512091.2_Missense_Mutation_p.V701D|LPHN3_ENST00000514996.1_Missense_Mutation_p.V701D|LPHN3_ENST00000511324.1_Missense_Mutation_p.V769D|LPHN3_ENST00000507625.1_Missense_Mutation_p.V769D|LPHN3_ENST00000545650.1_Missense_Mutation_p.V701D|LPHN3_ENST00000506746.1_Missense_Mutation_p.V769D|LPHN3_ENST00000508946.1_Missense_Mutation_p.V701D|LPHN3_ENST00000514157.1_Missense_Mutation_p.V701D			Q9HAR2	LPHN3_HUMAN	latrophilin 3	688					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.V701D(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GAATTGGAAGTTGCAAGACTG	0.363																																						uc010ihh.2																			3	Substitution - Missense(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(2101-2103)GTT>GAT		latrophilin 3 precursor							42.0	40.0	41.0					4																	62801650		1851	4097	5948	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62801650T>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2102T>A	4.37:g.62801650T>A	ENSP00000422533:p.Val701Asp					LPHN3_uc003hcq.3_Missense_Mutation_p.V701D|LPHN3_uc003hct.2_Missense_Mutation_p.V94D	p.V701D	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			12	2275	+			688			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2102T>A	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.1|22.1	4.249810|4.249810	0.80024|0.80024	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.18174	.|2.23;2.23;2.23;2.23;2.23;2.23;2.23;2.23;2.23;2.23;2.23;2.23;2.23;2.23;2.23	4.99|4.99	4.99|4.99	0.66335|0.66335	.|Domain of unknown function DUF3497 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.41119|0.41119	0.1145|0.1145	M|M	0.71206|0.71206	2.165|2.165	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.75020	.|0.985;0.985;0.974	T|T	0.36648|0.36648	-0.9739|-0.9739	5|10	.|0.87932	.|D	.|0	.|.	14.7103|14.7103	0.69225|0.69225	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|701;688;701	.|E9PE04;Q9HAR2;Q9HAR2-2	.|.;LPHN3_HUMAN;.	R|D	158|701;701;769;769;701;701;688;701;769;769;769;701;701;701;769;769;701	.|ENSP00000423388:V701D;ENSP00000422533:V701D;ENSP00000423787:V769D;ENSP00000425033:V769D;ENSP00000424120:V701D;ENSP00000439831:V701D;ENSP00000421476:V769D;ENSP00000424030:V769D;ENSP00000421372:V769D;ENSP00000425201:V701D;ENSP00000423434:V701D;ENSP00000421627:V701D;ENSP00000420931:V769D;ENSP00000425884:V769D;ENSP00000424258:V701D	.|ENSP00000280009:V701D	S|V	+|+	3|2	2|0	LPHN3|LPHN3	62484245|62484245	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.466000|7.466000	0.80914|0.80914	1.886000|1.886000	0.54624|0.54624	0.477000|0.477000	0.44152|0.44152	AGT|GTT		PASS	0.363	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			3	4	3	4	---	---	---	---
AREG	374	broad.mit.edu	37	4	75312287	75312287	+	Missense_Mutation	SNP	A	A	G	rs201209086	byFrequency	TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr4:75312287A>G	ENST00000395748.3	+	2	310	c.98A>G	c.(97-99)tAc>tGc	p.Y33C	AREG_ENST00000264487.2_Missense_Mutation_p.Y33C|AREG_ENST00000502307.1_Missense_Mutation_p.Y33C	NM_001657.2	NP_001648.1	P15514	AREG_HUMAN	amphiregulin	33					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|G-protein coupled receptor signaling pathway (GO:0007186)|glial cell proliferation (GO:0014009)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in thelarche (GO:0060744)|negative regulation of osteoblast differentiation (GO:0045668)|neuron projection development (GO:0031175)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of phosphorylation (GO:0042327)|response to cAMP (GO:0051591)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to peptide hormone (GO:0043434)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	growth factor activity (GO:0008083)	p.Y33C(1)		lung(4)	4			Lung(101;0.196)			AATGACACCTACTCTGGGAAG	0.488													A|||	43	0.00858626	0.0	0.0	5008	,	,		7904	0.0		0.0	False		,,,				2504	0.044					uc011cbl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(97-99)TAC>TGC		amphiregulin preproprotein							11.0	42.0	32.0					4																	75312287		1785	4011	5796	SO:0001583	missense	374				cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity	g.chr4:75312287A>G	M30704	CCDS3565.1	4q13.3	2014-06-19	2008-08-01		ENSG00000109321	ENSG00000109321		"""Endogenous ligands"""	651	protein-coding gene	gene with protein product		104640	"""schwannoma-derived growth factor"", ""amphiregulin B"""	SDGF, AREGB			Standard	NM_001657		Approved		uc021xpc.1	P15514	OTTHUMG00000130006	ENST00000395748.3:c.98A>G	4.37:g.75312287A>G	ENSP00000379097:p.Tyr33Cys						p.Y33C	NM_001657	NP_001648	P15514	AREG_HUMAN	Lung(101;0.196)		2	308	+			33					Q5U026	Missense_Mutation	SNP	ENST00000395748.3	37	c.98A>G	CCDS3565.1	.	.	.	.	.	.	.	.	.	.	A	4.834	0.155011	0.09236	.	.	ENSG00000109321	ENST00000395748;ENST00000264487;ENST00000502307	T;T;T	0.14893	2.47;2.47;2.64	5.08	-10.2	0.00374	.	1.550240	0.03540	N	0.223832	T	0.10809	0.0264	N	0.19112	0.55	0.09310	N	1	D	0.53619	0.961	B	0.43445	0.42	T	0.35375	-0.9791	10	0.37606	T	0.19	1.0012	11.5849	0.50912	0.2225:0.6401:0.1375:0.0	.	33	P15514	AREG_HUMAN	C	33	ENSP00000379097:Y33C;ENSP00000264487:Y33C;ENSP00000421414:Y33C	ENSP00000264487:Y33C	Y	+	2	0	AREG	75531151	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-1.070000	0.03440	-2.132000	0.00814	-0.472000	0.04984	TAC		PASS	0.488	AREG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252277.1			48	39	48	39	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114163341	114163341	+	Silent	SNP	C	C	A	rs113692517	byFrequency	TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr4:114163341C>A	ENST00000357077.4	+	9	920	c.867C>A	c.(865-867)ggC>ggA	p.G289G	ANK2_ENST00000264366.6_Silent_p.G289G|ANK2_ENST00000506722.1_Silent_p.G268G|ANK2_ENST00000394537.3_Silent_p.G289G	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	289					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.G289G(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)		TGGATCGAGGCGGTCAGATCG	0.428																																						uc003ibe.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(865-867)GGC>GGA		ankyrin 2 isoform 1							194.0	176.0	182.0					4																	114163341		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114163341C>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.867C>A	4.37:g.114163341C>A						ANK2_uc003ibd.3_Silent_p.G268G|ANK2_uc003ibf.3_Silent_p.G289G|ANK2_uc003ibc.2_Silent_p.G265G|ANK2_uc011cgb.1_Silent_p.G304G	p.G289G	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	9	967	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	289			ANK 8.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.867C>A	CCDS3702.1																																																																																				PASS	0.428	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		26	26	26	26	---	---	---	---
DDX60L	91351	broad.mit.edu	37	4	169305933	169305933	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr4:169305933C>T	ENST00000511577.1	-	30	4193	c.3946G>A	c.(3946-3948)Gac>Aac	p.D1316N	DDX60L_ENST00000260184.7_Missense_Mutation_p.D1316N			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1316	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.D1317N(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CCAAGCAGGTCTTGACCTCTT	0.423																																						uc003irq.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3946-3948)GAC>AAC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							49.0	51.0	50.0					4																	169305933		2201	4299	6500	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169305933C>T	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.3946G>A	4.37:g.169305933C>T	ENSP00000422423:p.Asp1316Asn						p.D1316N	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	30	4167	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1316			Helicase C-terminal.		Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.3946G>A		.	.	.	.	.	.	.	.	.	.	C	15.86	2.957032	0.53293	.	.	ENSG00000181381	ENST00000260184;ENST00000511577	T;T	0.52754	0.65;0.65	3.55	3.55	0.40652	Helicase, C-terminal (1);	.	.	.	.	T	0.73690	0.3619	M	0.91249	3.19	0.32227	N	0.574444	D	0.89917	1.0	D	0.71184	0.972	T	0.82849	-0.0254	9	0.87932	D	0	.	14.7016	0.69160	0.0:1.0:0.0:0.0	.	1316	Q5H9U9	DDX6L_HUMAN	N	1316	ENSP00000260184:D1316N;ENSP00000422423:D1316N	ENSP00000260184:D1316N	D	-	1	0	DDX60L	169542508	1.000000	0.71417	0.069000	0.20011	0.359000	0.29487	4.743000	0.62110	1.501000	0.48654	0.563000	0.77884	GAC		PASS	0.423	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		11	19	11	19	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183575036	183575036	+	Silent	SNP	T	T	C			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr4:183575036T>C	ENST00000511685.1	+	6	1224	c.1101T>C	c.(1099-1101)tcT>tcC	p.S367S	TENM3_ENST00000406950.2_Silent_p.S367S			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	367					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S367S(1)									CATTACCTTCTGGAGACAATG	0.368																																						uc003ivd.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1099-1101)TCT>TCC		odz, odd Oz/ten-m homolog 3							109.0	105.0	106.0					4																	183575036		1907	4131	6038	SO:0001819	synonymous_variant	55714				signal transduction	integral to membrane		g.chr4:183575036T>C	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1101T>C	4.37:g.183575036T>C							p.S367S	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	5	1138	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	367			Extracellular (Potential).		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.1101T>C	CCDS47165.1																																																																																				PASS	0.368	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			12	17	12	17	---	---	---	---
SLC6A3	6531	broad.mit.edu	37	5	1420684	1420684	+	Splice_Site	SNP	A	A	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr5:1420684A>G	ENST00000270349.9	-	6	1054	c.927T>C	c.(925-927)tcT>tcC	p.S309S	SLC6A3_ENST00000453492.2_Splice_Site_p.S309S	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	309					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)	p.S309S(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CTGTACTCACAGACGCCTCGC	0.592																																						uc003jck.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)	6						c.(925-927)TCT>TCC		solute carrier family 6 (neurotransmitter	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						113.0	104.0	107.0					5																	1420684		2203	4300	6503	SO:0001630	splice_region_variant	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1420684A>G		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.927+1T>C	5.37:g.1420684A>G							p.S309S	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		6	1048	-			309					A2RUN4|Q14996	Silent	SNP	ENST00000270349.9	37	c.927T>C	CCDS3863.1																																																																																				PASS	0.592	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044	Silent	29	117	29	117	---	---	---	---
PRLR	5618	broad.mit.edu	37	5	35065607	35065607	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr5:35065607C>A	ENST00000382002.5	-	10	1879	c.1453G>T	c.(1453-1455)Gag>Tag	p.E485*	PRLR_ENST00000511486.1_Nonsense_Mutation_p.E384*|PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000342362.5_Nonsense_Mutation_p.E384*|PRLR_ENST00000397391.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	485					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)	p.E485*(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	TGGTCAGTCTCAGAATGGAAG	0.483																																						uc003jjm.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1453-1455)GAG>TAG		prolactin receptor precursor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						94.0	104.0	101.0					5																	35065607		2203	4300	6503	SO:0001587	stop_gained	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35065607C>A		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1453G>T	5.37:g.35065607C>A	ENSP00000371432:p.Glu485*					PRLR_uc003jjg.1_Intron|PRLR_uc003jjh.1_Intron|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Nonsense_Mutation_p.E384*	p.E485*	NM_000949	NP_000940	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		10	1983	-	all_lung(31;3.83e-05)		485			Cytoplasmic (Potential).		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Nonsense_Mutation	SNP	ENST00000382002.5	37	c.1453G>T	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537944	0.85917	.	.	ENSG00000113494	ENST00000342362;ENST00000382002;ENST00000511486	.	.	.	5.28	0.163	0.14986	.	0.444709	0.27577	N	0.018753	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4187	7.6225	0.28193	0.0:0.1391:0.1199:0.741	.	.	.	.	X	384;485;384	.	ENSP00000339213:E384X	E	-	1	0	PRLR	35101364	0.794000	0.28838	0.076000	0.20297	0.005000	0.04900	0.402000	0.20965	-0.086000	0.12550	-0.960000	0.02634	GAG		PASS	0.483	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			27	58	27	58	---	---	---	---
DAB2	1601	broad.mit.edu	37	5	39383066	39383066	+	Missense_Mutation	SNP	C	C	A	rs370444441		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr5:39383066C>A	ENST00000320816.6	-	10	1462	c.995G>T	c.(994-996)aGt>aTt	p.S332I	DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Missense_Mutation_p.S311I|DAB2_ENST00000545653.1_Missense_Mutation_p.S311I|DAB2_ENST00000512525.1_5'Flank	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	332	Required for localization to clathrin- coated pits. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)	p.S332I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GGGCCCATTACTCAGCGGAGT	0.498																																						uc003jlx.2																			1	Substitution - Missense(1)		lung(1)	kidney(2)|skin(1)	3						c.(994-996)AGT>ATT		disabled homolog 2							94.0	97.0	96.0					5																	39383066		2203	4300	6503	SO:0001583	missense	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39383066C>A	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.995G>T	5.37:g.39383066C>A	ENSP00000313391:p.Ser332Ile					DAB2_uc003jlw.2_Missense_Mutation_p.S311I	p.S332I	NM_001343	NP_001334	P98082	DAB2_HUMAN	Epithelial(62;0.137)		10	1526	-	all_lung(31;0.000197)		332					A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	c.995G>T	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.417643	0.25552	.	.	ENSG00000153071	ENST00000320816;ENST00000545653;ENST00000509337	T;T;T	0.36157	1.27;1.29;1.29	5.73	4.85	0.62838	.	0.438358	0.25744	N	0.028587	T	0.28863	0.0716	L	0.44542	1.39	0.36219	D	0.851877	B;B	0.22211	0.04;0.066	B;B	0.20955	0.008;0.032	T	0.16100	-1.0414	10	0.25106	T	0.35	-4.2762	10.7122	0.45990	0.0:0.8581:0.0:0.1419	.	332;311	P98082;P98082-3	DAB2_HUMAN;.	I	332;311;311	ENSP00000313391:S332I;ENSP00000439919:S311I;ENSP00000426245:S311I	ENSP00000313391:S332I	S	-	2	0	DAB2	39418823	0.843000	0.29541	1.000000	0.80357	0.844000	0.47949	1.281000	0.33214	2.861000	0.98227	0.655000	0.94253	AGT		PASS	0.498	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		25	73	25	73	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90049535	90049535	+	Missense_Mutation	SNP	A	A	G	rs369990572		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr5:90049535A>G	ENST00000405460.2	+	54	11362	c.11266A>G	c.(11266-11268)Att>Gtt	p.I3756V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3756					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.I3756V(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGGTGCTACTATTGATCAGGA	0.453																																						uc003kju.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(11266-11268)ATT>GTT		G protein-coupled receptor 98 precursor		A	VAL/ILE	0,3922		0,0,1961	94.0	92.0	92.0		11266	4.5	1.0	5		92	2,8280		0,2,4139	no	missense	GPR98	NM_032119.3	29	0,2,6100	GG,GA,AA		0.0241,0.0,0.0164	probably-damaging	3756/6307	90049535	2,12202	1961	4141	6102	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90049535A>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11266A>G	5.37:g.90049535A>G	ENSP00000384582:p.Ile3756Val					GPR98_uc003kjt.2_Missense_Mutation_p.I1462V|GPR98_uc003kjv.2_Missense_Mutation_p.I1356V	p.I3756V	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	54	11362	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3756			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.11266A>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	11.21	1.571220	0.28003	0.0	2.41E-4	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.26067	1.76	5.66	4.51	0.55191	.	0.166634	0.53938	N	0.000053	T	0.28962	0.0719	M	0.80847	2.515	0.80722	D	1	B;B	0.30455	0.28;0.022	B;B	0.29353	0.101;0.005	T	0.09378	-1.0677	10	0.49607	T	0.09	.	6.5094	0.22214	0.7634:0.1568:0.0798:0.0	.	3756;3756	E7ETI5;Q8WXG9	.;GPR98_HUMAN	V	3756	ENSP00000384582:I3756V	ENSP00000296619:I3756V	I	+	1	0	GPR98	90085291	0.998000	0.40836	0.972000	0.41901	0.167000	0.22549	3.931000	0.56529	0.993000	0.38866	0.528000	0.53228	ATT		PASS	0.453	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		21	24	21	24	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127648412	127648412	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr5:127648412C>T	ENST00000508053.1	-	43	5767	c.4793G>A	c.(4792-4794)gGg>gAg	p.G1598E	FBN2_ENST00000262464.4_Missense_Mutation_p.G1598E			P35556	FBN2_HUMAN	fibrillin 2	1598	TB 6.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.G1598E(2)|p.G1598V(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GACGCCCACCCCGATCTCGGT	0.552																																						uc003kuu.2																			4	Substitution - Missense(4)		lung(4)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(4792-4794)GGG>GAG		fibrillin 2 precursor							229.0	233.0	232.0					5																	127648412		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127648412C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4793G>A	5.37:g.127648412C>T	ENSP00000424571:p.Gly1598Glu						p.G1598E	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	37	5232	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1598			TB 6.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.4793G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564776	0.86439	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.93076	-3.16;-3.16	5.3	4.44	0.53790	Matrix fibril-associated (3);TGF-beta binding (1);	0.091594	0.47852	N	0.000205	D	0.96436	0.8837	M	0.82823	2.61	0.58432	D	0.999991	P	0.45634	0.863	P	0.62740	0.906	D	0.96981	0.9715	10	0.87932	D	0	.	14.1659	0.65475	0.0:0.9284:0.0:0.0716	.	1598	P35556	FBN2_HUMAN	E	1598	ENSP00000262464:G1598E;ENSP00000424571:G1598E	ENSP00000262464:G1598E	G	-	2	0	FBN2	127676311	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	7.585000	0.82584	1.482000	0.48325	0.655000	0.94253	GGG		PASS	0.552	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		105	149	105	149	---	---	---	---
KDM3B	51780	broad.mit.edu	37	5	137727932	137727932	+	Silent	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr5:137727932C>A	ENST00000314358.5	+	8	2811	c.2611C>A	c.(2611-2613)Cgg>Agg	p.R871R	KDM3B_ENST00000394866.1_Silent_p.R527R|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	871					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.R871R(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GGGCCGGCCTCGGACTGCCCC	0.612																																						uc003lcy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						c.(2611-2613)CGG>AGG		jumonji domain containing 1B							26.0	31.0	29.0					5																	137727932		2183	4287	6470	SO:0001819	synonymous_variant	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137727932C>A	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.2611C>A	5.37:g.137727932C>A						KDM3B_uc010jew.1_Silent_p.R527R|KDM3B_uc011cys.1_Intron	p.R871R	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN			8	2811	+			871					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Silent	SNP	ENST00000314358.5	37	c.2611C>A	CCDS34242.1																																																																																				PASS	0.612	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		3	21	3	21	---	---	---	---
PCDHA6	56142	broad.mit.edu	37	5	140209961	140209961	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr5:140209961A>T	ENST00000529310.1	+	1	2399	c.2285A>T	c.(2284-2286)gAg>gTg	p.E762V	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	762					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E762V(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCCGGGGAGGGCCCACCC	0.597																																						uc003lho.2																			2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(2284-2286)GAG>GTG		protocadherin alpha 6 isoform 1 precursor							52.0	55.0	54.0					5																	140209961		2203	4300	6503	SO:0001583	missense	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140209961A>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2285A>T	5.37:g.140209961A>T	ENSP00000433378:p.Glu762Val					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Missense_Mutation_p.E762V	p.E762V	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2312	+			762			Cytoplasmic (Potential).		O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.2285A>T	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.868366	0.32977	.	.	ENSG00000081842	ENST00000529310	T	0.17213	2.29	4.02	4.02	0.46733	.	0.201428	0.23922	U	0.043222	T	0.46908	0.1417	M	0.93550	3.43	0.80722	D	1	D;D	0.69078	0.997;0.988	D;P	0.73380	0.98;0.873	T	0.52888	-0.8515	10	0.52906	T	0.07	.	7.9369	0.29935	0.9042:0.0:0.0958:0.0	.	762;762	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	V	762	ENSP00000433378:E762V	ENSP00000433378:E762V	E	+	2	0	PCDHA6	140190145	0.999000	0.42202	0.982000	0.44146	0.010000	0.07245	1.155000	0.31700	1.801000	0.52704	0.260000	0.18958	GAG		PASS	0.597	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		6	35	6	35	---	---	---	---
PCDHGA4	56111	broad.mit.edu	37	5	140736606	140736606	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr5:140736606G>T	ENST00000571252.1	+	1	1839	c.1839G>T	c.(1837-1839)gaG>gaT	p.E613D	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	613	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCCAGCGAGCCGGGACTAT	0.622																																						uc003ljq.1																			0					0						c.(1837-1839)GAG>GAT		protocadherin gamma subfamily A, 4 isoform 1							41.0	49.0	46.0					5																	140736606		2194	4299	6493	SO:0001583	missense	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140736606G>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.1839G>T	5.37:g.140736606G>T	ENSP00000458570:p.Glu613Asp					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.E613D	p.E613D	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1839	+			613			Extracellular (Potential).|Cadherin 6.		Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.1839G>T	CCDS58979.1																																																																																				PASS	0.622	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		21	26	21	26	---	---	---	---
KIAA0141	9812	broad.mit.edu	37	5	141316862	141316862	+	Missense_Mutation	SNP	G	G	T	rs137962377		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr5:141316862G>T	ENST00000432126.2	+	11	1383	c.1249G>T	c.(1249-1251)Gct>Tct	p.A417S	KIAA0141_ENST00000194118.4_Missense_Mutation_p.A417S	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	417					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)		p.A417S(1)|p.A417T(1)		endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGTCAGCCGCTCTGGGAAA	0.567																																						uc003lls.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	skin(1)	1						c.(1249-1251)GCT>TCT		hypothetical protein LOC9812 precursor							100.0	104.0	103.0					5																	141316862		2203	4300	6503	SO:0001583	missense	9812				apoptosis|regulation of caspase activity	mitochondrion	protein binding	g.chr5:141316862G>T	BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"""death ligand signal enhancer"""	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.1249G>T	5.37:g.141316862G>T	ENSP00000396225:p.Ala417Ser					KIAA0141_uc003llt.2_Missense_Mutation_p.A417S|KIAA0141_uc003llu.1_RNA	p.A417S	NM_001142603	NP_001136075	Q14154	DELE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	1371	+		all_hematologic(541;0.118)	417			TPR 6.		Q969R4|Q96EU9	Missense_Mutation	SNP	ENST00000432126.2	37	c.1249G>T	CCDS4268.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108910	0.37242	.	.	ENSG00000081791	ENST00000432126;ENST00000194118	T;T	0.51325	0.71;0.71	5.6	5.6	0.85130	Tetratricopeptide-like helical (1);	0.243379	0.40908	D	0.000996	T	0.63426	0.2510	M	0.67953	2.075	0.35693	D	0.815027	D	0.89917	1.0	D	0.91635	0.999	T	0.62807	-0.6776	10	0.10111	T	0.7	-10.1976	15.1108	0.72355	0.0:0.0:1.0:0.0	.	417	Q14154	DELE_HUMAN	S	417	ENSP00000396225:A417S;ENSP00000194118:A417S	ENSP00000194118:A417S	A	+	1	0	KIAA0141	141297046	0.999000	0.42202	0.954000	0.39281	0.144000	0.21451	4.008000	0.57103	2.648000	0.89879	0.655000	0.94253	GCT		PASS	0.567	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251863.2	NM_014773		26	51	26	51	---	---	---	---
KIAA0319	9856	broad.mit.edu	37	6	24596213	24596213	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr6:24596213G>T	ENST00000378214.3	-	3	1213	c.689C>A	c.(688-690)cCt>cAt	p.P230H	KIAA0319_ENST00000430948.2_Missense_Mutation_p.P185H|KIAA0319_ENST00000543707.1_Missense_Mutation_p.P230H|KIAA0319_ENST00000535378.1_Missense_Mutation_p.P221H|KIAA0319_ENST00000537886.1_Missense_Mutation_p.P230H	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	230					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P230H(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						ACTTCTCTCAGGGAGTTTTGG	0.552																																						uc011djo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(688-690)CCT>CAT		KIAA0319 precursor							60.0	58.0	59.0					6																	24596213		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24596213G>T	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.689C>A	6.37:g.24596213G>T	ENSP00000367459:p.Pro230His					KIAA0319_uc011djp.1_Missense_Mutation_p.P185H|KIAA0319_uc003neh.1_Missense_Mutation_p.P230H|KIAA0319_uc011djq.1_Missense_Mutation_p.P221H|KIAA0319_uc011djr.1_Missense_Mutation_p.P230H	p.P230H	NM_014809	NP_055624	Q5VV43	K0319_HUMAN			3	926	-			230			Extracellular (Potential).		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.689C>A	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999036	0.54147	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.07567	3.18;3.19;3.19;3.19;3.19	4.09	2.27	0.28462	.	0.773208	0.11319	N	0.576216	T	0.01905	0.0060	N	0.08118	0	0.09310	N	1	P;P;P	0.48503	0.911;0.911;0.855	P;B;B	0.47941	0.562;0.443;0.258	T	0.37314	-0.9711	10	0.54805	T	0.06	-0.1398	4.0163	0.09646	0.0897:0.1586:0.5881:0.1636	.	230;221;230	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	H	230;221;185;230;230	ENSP00000439700:P230H;ENSP00000442403:P221H;ENSP00000401086:P185H;ENSP00000367459:P230H;ENSP00000437656:P230H	ENSP00000367459:P230H	P	-	2	0	KIAA0319	24704192	0.034000	0.19679	0.000000	0.03702	0.621000	0.37620	1.684000	0.37649	0.349000	0.23975	0.609000	0.83330	CCT		PASS	0.552	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		27	27	27	27	---	---	---	---
ZNF76	7629	broad.mit.edu	37	6	35260412	35260412	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr6:35260412T>C	ENST00000373953.3	+	10	1279	c.1013T>C	c.(1012-1014)gTg>gCg	p.V338A	ZNF76_ENST00000339411.5_Missense_Mutation_p.V338A|ZNF76_ENST00000440666.2_Missense_Mutation_p.V312A	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	338					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V338A(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CACCACGTGGTGCACACACAC	0.622																																					Esophageal Squamous(52;92 1039 20612 23956 34676)	uc003oki.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1012-1014)GTG>GCG		zinc finger protein 76 (expressed in testis)							110.0	77.0	88.0					6																	35260412		2203	4300	6503	SO:0001583	missense	7629				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:35260412T>C	M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"""Zinc fingers, C2H2-type"""	13149	protein-coding gene	gene with protein product		194549	"""zinc finger protein 76 (expressed in testis)"""	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.1013T>C	6.37:g.35260412T>C	ENSP00000363064:p.Val338Ala					ZNF76_uc011dsz.1_Missense_Mutation_p.V338A|ZNF76_uc003okj.1_Missense_Mutation_p.V338A	p.V338A	NM_003427	NP_003418	P36508	ZNF76_HUMAN			10	1218	+			338			C2H2-type 6.		Q9BQB2	Missense_Mutation	SNP	ENST00000373953.3	37	c.1013T>C	CCDS4801.1	.	.	.	.	.	.	.	.	.	.	T	17.62	3.434098	0.62955	.	.	ENSG00000065029	ENST00000469195;ENST00000448999;ENST00000373953;ENST00000417184;ENST00000440666;ENST00000339411	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.15	3.99	0.46301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40554	N	0.001062	T	0.20659	0.0497	L	0.52573	1.65	0.53688	D	0.999974	B;B	0.30211	0.015;0.273	B;B	0.34590	0.028;0.186	T	0.08472	-1.0720	10	0.87932	D	0	.	10.164	0.42868	0.0:0.0779:0.0:0.9221	.	338;338	P36508-2;P36508	.;ZNF76_HUMAN	A	338;338;338;338;312;338	ENSP00000419106:V338A;ENSP00000363064:V338A;ENSP00000392243:V312A;ENSP00000344097:V338A	ENSP00000344097:V338A	V	+	2	0	ZNF76	35368390	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	7.854000	0.86942	0.983000	0.38602	0.402000	0.26972	GTG		PASS	0.622	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427		25	23	25	23	---	---	---	---
FGD2	221472	broad.mit.edu	37	6	36981871	36981871	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr6:36981871C>G	ENST00000274963.8	+	6	989	c.818C>G	c.(817-819)gCc>gGc	p.A273G		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	273	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.A273G(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CAGGCCGATGCCCAGAGTGAG	0.577																																						uc010jwp.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)|pancreas(1)	3						c.(817-819)GCC>GGC		FYVE, RhoGEF and PH domain containing 2							43.0	46.0	45.0					6																	36981871		2203	4300	6503	SO:0001583	missense	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr6:36981871C>G	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.818C>G	6.37:g.36981871C>G	ENSP00000274963:p.Ala273Gly					FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_5'UTR|FGD2_uc003oni.1_Missense_Mutation_p.A79G	p.A273G	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN			6	989	+			273			DH.		Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	ENST00000274963.8	37	c.818C>G	CCDS4829.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844075	0.71488	.	.	ENSG00000146192	ENST00000274963	T	0.63913	-0.07	5.25	5.25	0.73442	Dbl homology (DH) domain (5);	0.000000	0.42821	D	0.000654	T	0.74928	0.3781	M	0.75150	2.29	0.52501	D	0.999951	D	0.67145	0.996	D	0.67548	0.952	T	0.78201	-0.2296	10	0.72032	D	0.01	-4.1346	18.4682	0.90763	0.0:1.0:0.0:0.0	.	273	Q7Z6J4	FGD2_HUMAN	G	273	ENSP00000274963:A273G	ENSP00000274963:A273G	A	+	2	0	FGD2	37089849	1.000000	0.71417	0.931000	0.37212	0.166000	0.22503	7.563000	0.82314	2.442000	0.82660	0.557000	0.71058	GCC		PASS	0.577	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		21	14	21	14	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51618098	51618098	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr6:51618098C>T	ENST00000371117.3	-	57	9126	c.8851G>A	c.(8851-8853)Gga>Aga	p.G2951R	PKHD1_ENST00000340994.4_Missense_Mutation_p.G2951R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2951					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.G2951R(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTCAACAGTCCAACCTCAGCA	0.468																																						uc003pah.1																			2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(8851-8853)GGA>AGA		fibrocystin isoform 1							97.0	85.0	89.0					6																	51618098		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51618098C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8851G>A	6.37:g.51618098C>T	ENSP00000360158:p.Gly2951Arg					PKHD1_uc010jzn.1_Missense_Mutation_p.G934R|PKHD1_uc003pai.2_Missense_Mutation_p.G2951R	p.G2951R	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			57	9127	-	Lung NSC(77;0.0605)		2951			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.8851G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312170	0.81358	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.83755	-1.76;-1.76	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000001	D	0.92688	0.7676	M	0.91663	3.23	0.45464	D	0.998437	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.994;0.999	D	0.93434	0.6788	10	0.72032	D	0.01	.	18.9407	0.92604	0.0:1.0:0.0:0.0	.	2951;2951;2951	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	R	2951	ENSP00000360158:G2951R;ENSP00000341097:G2951R	ENSP00000341097:G2951R	G	-	1	0	PKHD1	51726057	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.167000	0.64972	2.719000	0.93026	0.655000	0.94253	GGA		PASS	0.468	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		15	22	15	22	---	---	---	---
KLHL32	114792	broad.mit.edu	37	6	97424046	97424046	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr6:97424046A>G	ENST00000369261.4	+	3	560	c.197A>G	c.(196-198)tAt>tGt	p.Y66C	KLHL32_ENST00000544166.1_5'UTR|KLHL32_ENST00000539200.1_Missense_Mutation_p.Y66C|KLHL32_ENST00000536676.1_Missense_Mutation_p.Y66C	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	66	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.							p.Y66C(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TGCAGTGACTATTTCCGGGTA	0.448																																						uc010kcm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(196-198)TAT>TGT		kelch-like 32							86.0	69.0	75.0					6																	97424046		2203	4300	6503	SO:0001583	missense	114792							g.chr6:97424046A>G	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.197A>G	6.37:g.97424046A>G	ENSP00000358265:p.Tyr66Cys					KLHL32_uc003poy.2_Missense_Mutation_p.Y66C|KLHL32_uc011ead.1_Missense_Mutation_p.Y66C|KLHL32_uc003poz.2_5'UTR|KLHL32_uc011eae.1_Missense_Mutation_p.Y66C	p.Y66C	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	3	669	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	66			BTB.		B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	c.197A>G	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.018558	0.75275	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200;ENST00000369254	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	5.14	5.14	0.70334	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.89473	0.6725	H	0.96805	3.885	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.998;0.993;1.0;0.999	D	0.92933	0.6365	10	0.87932	D	0	.	15.1103	0.72351	1.0:0.0:0.0:0.0	.	66;66;66;66	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	C	66	ENSP00000358265:Y66C;ENSP00000440382:Y66C;ENSP00000441527:Y66C;ENSP00000358258:Y66C	ENSP00000358258:Y66C	Y	+	2	0	KLHL32	97530767	1.000000	0.71417	0.986000	0.45419	0.941000	0.58515	8.761000	0.91691	2.159000	0.67721	0.482000	0.46254	TAT		PASS	0.448	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		6	43	6	43	---	---	---	---
CDC40	51362	broad.mit.edu	37	6	110540601	110540601	+	Silent	SNP	A	A	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr6:110540601A>T	ENST00000368932.1	+	12	1226	c.1125A>T	c.(1123-1125)gtA>gtT	p.V375V	CDC40_ENST00000368930.1_Silent_p.V375V|CDC40_ENST00000307731.1_Silent_p.V375V			O60508	PRP17_HUMAN	cell division cycle 40	375					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.V375V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		ACCGAAAAGTACCTTATTGTG	0.323																																						uc003pua.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1123-1125)GTA>GTT		cell division cycle 40 homolog							139.0	134.0	136.0					6																	110540601		2203	4300	6503	SO:0001819	synonymous_variant	51362				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm		g.chr6:110540601A>T	AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"""WD repeat domain containing"""	17350	protein-coding gene	gene with protein product		605585	"""cell division cycle 40 homolog (yeast)"", ""cell division cycle 40 homolog (S. cerevisiae)"""			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.1125A>T	6.37:g.110540601A>T							p.V375V	NM_015891	NP_056975	O60508	PRP17_HUMAN		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)	11	1149	+		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	375			WD 3.		B2RBC5|O75471|Q5SRN0|Q9UPG1	Silent	SNP	ENST00000368932.1	37	c.1125A>T	CCDS5081.1																																																																																				PASS	0.323	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041791.1	NM_015891		21	17	21	17	---	---	---	---
DSE	29940	broad.mit.edu	37	6	116747880	116747880	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr6:116747880A>G	ENST00000331677.3	+	4	1004	c.560A>G	c.(559-561)tAt>tGt	p.Y187C	DSE_ENST00000452085.3_Missense_Mutation_p.Y187C|DSE_ENST00000359564.2_Missense_Mutation_p.Y187C|DSE_ENST00000537543.1_Missense_Mutation_p.Y206C|DSE_ENST00000606265.1_3'UTR			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	187					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)	p.Y187C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		GCCTCAGGGTATATGTATGAA	0.463																																						uc003pws.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(559-561)TAT>TGT		dermatan sulfate epimerase precursor							111.0	99.0	103.0					6																	116747880		2203	4300	6503	SO:0001583	missense	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116747880A>G	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.560A>G	6.37:g.116747880A>G	ENSP00000332151:p.Tyr187Cys					DSE_uc011ebf.1_Missense_Mutation_p.Y187C|DSE_uc011ebg.1_Missense_Mutation_p.Y206C|DSE_uc003pwt.2_Missense_Mutation_p.Y187C	p.Y187C	NM_001080976	NP_001074445	Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	3	754	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	187					Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	c.560A>G	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	A	19.20	3.780678	0.70222	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	6.06	6.06	0.98353	.	0.127985	0.56097	D	0.000037	T	0.36936	0.0985	L	0.40543	1.245	0.51233	D	0.999915	D;D	0.61697	0.99;0.99	P;P	0.53313	0.723;0.723	T	0.07347	-1.0777	9	.	.	.	-16.65	16.6093	0.84858	1.0:0.0:0.0:0.0	.	206;187	B7Z765;Q9UL01	.;DSE_HUMAN	C	187;206;187;187	ENSP00000404049:Y187C;ENSP00000441152:Y206C;ENSP00000332151:Y187C;ENSP00000352567:Y187C	.	Y	+	2	0	DSE	116854573	1.000000	0.71417	0.994000	0.49952	0.964000	0.63967	5.929000	0.70096	2.324000	0.78689	0.533000	0.62120	TAT		PASS	0.463	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		21	26	21	26	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129649434	129649434	+	Silent	SNP	G	G	T	rs369076029		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr6:129649434G>T	ENST00000421865.2	+	29	4237	c.4188G>T	c.(4186-4188)ccG>ccT	p.P1396P		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1396	Laminin EGF-like 14; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.P1396P(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CATGCTTGCCGGGATTTTATC	0.507																																						uc003qbn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(4186-4188)CCG>CCT		laminin alpha 2 subunit isoform a precursor							128.0	115.0	120.0					6																	129649434		2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129649434G>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4188G>T	6.37:g.129649434G>T						LAMA2_uc003qbo.2_Silent_p.P1396P	p.P1396P	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	29	4293	+			1396			Laminin EGF-like 14; second part.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.4188G>T	CCDS5138.1																																																																																				PASS	0.507	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			26	23	26	23	---	---	---	---
HDAC9	9734	broad.mit.edu	37	7	18975451	18975451	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr7:18975451G>T	ENST00000432645.2	+	22	2814	c.2814G>T	c.(2812-2814)aaG>aaT	p.K938N	HDAC9_ENST00000441542.2_Missense_Mutation_p.K941N|HDAC9_ENST00000406451.4_Missense_Mutation_p.K938N|HDAC9_ENST00000401921.1_Missense_Mutation_p.K897N	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	938	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.K941N(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATTTGACGAAGCAATTGATGA	0.398																																						uc003suh.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|central_nervous_system(2)|kidney(1)	5						c.(2812-2814)AAG>AAT		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						212.0	209.0	210.0					7																	18975451		1956	4151	6107	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18975451G>T	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2814G>T	7.37:g.18975451G>T	ENSP00000410337:p.Lys938Asn					HDAC9_uc003sue.2_Missense_Mutation_p.K938N|HDAC9_uc003sui.2_Missense_Mutation_p.K941N|HDAC9_uc003suj.2_Missense_Mutation_p.K897N|HDAC9_uc003suk.2_Missense_Mutation_p.K186N	p.K938N	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			22	2855	+	all_lung(11;0.187)		938			Histone deacetylase.		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.2814G>T	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432006	0.43122	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	5.81	3.87	0.44632	Histone deacetylase domain (2);	0.284691	0.30575	N	0.009331	T	0.55465	0.1922	L	0.39467	1.215	0.80722	D	1	B;P;P;P;P	0.38335	0.092;0.627;0.485;0.541;0.485	B;B;B;B;B	0.36378	0.06;0.143;0.143;0.223;0.143	T	0.59043	-0.7528	10	0.87932	D	0	-42.2639	3.1758	0.06567	0.1552:0.137:0.5661:0.1416	.	186;897;941;938;938	Q8N926;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5	.;.;.;HDAC9_HUMAN;.	N	938;897;938;941;850	ENSP00000384657:K938N;ENSP00000383912:K897N;ENSP00000410337:K938N;ENSP00000408617:K941N	ENSP00000339165:K850N	K	+	3	2	HDAC9	18941976	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.323000	0.33701	1.370000	0.46153	0.563000	0.77884	AAG		PASS	0.398	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			38	113	38	113	---	---	---	---
STK31	56164	broad.mit.edu	37	7	23776540	23776540	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr7:23776540G>A	ENST00000355870.3	+	8	979	c.860G>A	c.(859-861)gGt>gAt	p.G287D	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.G287D|STK31_ENST00000354639.3_Missense_Mutation_p.G264D|STK31_ENST00000428484.1_Missense_Mutation_p.G264D	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	287						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.G287D(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTGGCTGTTGGTGACTTTAAT	0.338																																						uc003sws.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|lung(2)|ovary(2)|stomach(2)	9						c.(859-861)GGT>GAT		serine/threonine kinase 31 isoform a							79.0	80.0	80.0					7																	23776540		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23776540G>A	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.860G>A	7.37:g.23776540G>A	ENSP00000348132:p.Gly287Asp					STK31_uc003swt.3_Missense_Mutation_p.G264D|STK31_uc011jze.1_Missense_Mutation_p.G287D|STK31_uc010kuq.2_Missense_Mutation_p.G264D	p.G287D	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN			8	927	+			287					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.860G>A	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	g	15.03	2.712994	0.48517	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.64	5.64	0.86602	.	0.407173	0.28671	N	0.014537	T	0.17874	0.0429	L	0.60455	1.87	0.30998	N	0.720681	B;B	0.32245	0.361;0.361	B;B	0.25140	0.058;0.058	T	0.07751	-1.0756	10	0.42905	T	0.14	-7.607	13.2145	0.59851	0.0:0.1596:0.8404:0.0	.	287;287	B4DZ06;Q9BXU1	.;STK31_HUMAN	D	287;287;264;264	ENSP00000348132:G287D;ENSP00000411852:G287D;ENSP00000346660:G264D;ENSP00000406146:G264D	ENSP00000346660:G264D	G	+	2	0	STK31	23743065	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.384000	0.34396	2.821000	0.97095	0.603000	0.83216	GGT		PASS	0.338	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		16	33	16	33	---	---	---	---
PLEKHA8	84725	broad.mit.edu	37	7	30102343	30102343	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr7:30102343A>T	ENST00000449726.1	+	12	1635	c.1285A>T	c.(1285-1287)Atc>Ttc	p.I429F	PLEKHA8_ENST00000396259.1_Missense_Mutation_p.I429F|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.I429F|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.I429F	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	429	Glycolipid transfer protein homology domain.				ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)	p.I429F(2)		breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						GGAGAAGGATATCCAGACAGC	0.358																																						uc003tam.1																			2	Substitution - Missense(2)		lung(2)	breast(3)|ovary(1)	4						c.(1285-1287)ATC>TTC		pleckstrin homology domain containing, family A							82.0	86.0	85.0					7																	30102343		2203	4300	6503	SO:0001583	missense	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30102343A>T	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.1285A>T	7.37:g.30102343A>T	ENSP00000397947:p.Ile429Phe					PLEKHA8_uc003tao.2_Missense_Mutation_p.I313F|PLEKHA8_uc003tap.1_Missense_Mutation_p.I429F|PLEKHA8_uc003tan.2_Missense_Mutation_p.I429F	p.I429F	NM_032639	NP_116028	Q96JA3	PKHA8_HUMAN			12	1376	+			429					B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Missense_Mutation	SNP	ENST00000449726.1	37	c.1285A>T	CCDS56473.1	.	.	.	.	.	.	.	.	.	.	A	19.30	3.801660	0.70682	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	5.15	5.15	0.70609	Glycolipid transfer protein domain (3);	0.118882	0.56097	D	0.000023	T	0.74869	0.3773	M	0.67397	2.05	0.58432	D	0.999999	D;D;P;D	0.59767	0.96;0.968;0.899;0.986	P;P;P;P	0.62813	0.59;0.757;0.49;0.907	T	0.78066	-0.2349	9	0.72032	D	0.01	-23.9265	13.8021	0.63206	1.0:0.0:0.0:0.0	.	429;429;429;429	Q96JA3-2;Q96JA3;Q96JA3-3;B4DH00	.;PKHA8_HUMAN;.;.	F	429;429;429;429;455	.	ENSP00000258679:I429F	I	+	1	0	PLEKHA8	30068868	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.560000	0.53763	1.941000	0.56285	0.533000	0.62120	ATC		PASS	0.358	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		19	47	19	47	---	---	---	---
TRGC2	6967	broad.mit.edu	37	7	38288949	38288949	+	RNA	SNP	T	T	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr7:38288949T>G	ENST00000436911.2	-	0	224							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										TCTGGCACCGTTAACCAGCTA	0.393																																						uc003tfu.3																			0											c.(40-42)ACG>CCG		SubName: Full=TARP protein;							260.0	237.0	244.0					7																	38288949		1904	4115	6019			0							g.chr7:38288949T>G	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38288949T>G						uc003tfv.2_Missense_Mutation_p.T14P|uc003tfw.2_RNA|uc003tfx.1_RNA|uc003tfz.1_RNA	p.T14P							2	275	-									Missense_Mutation	SNP	ENST00000436911.2	37	c.40A>C																																																																																					PASS	0.393	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		41	79	41	79	---	---	---	---
EGFR	1956	broad.mit.edu	37	7	55259524	55259524	+	Missense_Mutation	SNP	T	T	A	rs121913444		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr7:55259524T>A	ENST00000275493.2	+	21	2759	c.2582T>A	c.(2581-2583)cTg>cAg	p.L861Q	EGFR_ENST00000455089.1_Missense_Mutation_p.L816Q|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000454757.2_Missense_Mutation_p.L808Q|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	861	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		L -> Q (found in a lung cancer sample; constitutively activated kinase with higher levels of basal autophosphorylation; more sensitive to gefitinib than wild-type; dbSNP:rs121913444). {ECO:0000269|PubMed:15623594, ECO:0000269|PubMed:16533793}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.L861Q(53)|p.L861R(6)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CTGGCCAAACTGCTGGGTGCG	0.557		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		59	Substitution - Missense(59)	p.L861Q(96)|p.L861R(10)|p.A859_L883>V(2)|p.L861F(1)|p.L861V(1)|p.L861P(1)	lung(57)|upper_aerodigestive_tract(1)|central_nervous_system(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(2581-2583)CTG>CAG		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						102.0	96.0	98.0					7																	55259524		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55259524T>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2582T>A	7.37:g.55259524T>A	ENSP00000275493:p.Leu861Gln	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_Missense_Mutation_p.L816Q|EGFR_uc011kco.1_Missense_Mutation_p.L808Q|uc003tqo.2_5'Flank	p.L861Q	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		21	2828	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		861		L -> Q (found in a lung cancer sample).	Cytoplasmic (Potential).|Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2582T>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955260	0.73902	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	D;D;D	0.82255	-1.59;-1.59;-1.59	5.82	5.82	0.92795	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85513	0.5714	N	0.25332	0.735	0.58432	D	0.999998	P;D	0.76494	0.481;0.999	B;D	0.71414	0.287;0.973	D	0.87493	0.2428	10	0.87932	D	0	.	15.0046	0.71501	0.0:0.0:0.0:1.0	.	816;861	Q504U8;P00533	.;EGFR_HUMAN	Q	816;731;861;808	ENSP00000415559:L816Q;ENSP00000275493:L861Q;ENSP00000395243:L808Q	ENSP00000275493:L861Q	L	+	2	0	EGFR	55227018	1.000000	0.71417	0.971000	0.41717	0.664000	0.39144	7.911000	0.87458	2.221000	0.72209	0.528000	0.53228	CTG		PASS	0.557	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		45	121	45	121	---	---	---	---
DOCK4	9732	broad.mit.edu	37	7	111629078	111629078	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr7:111629078C>A	ENST00000437633.1	-	6	712	c.456G>T	c.(454-456)tgG>tgT	p.W152C	DOCK4_ENST00000428084.1_Missense_Mutation_p.W152C|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	152					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.W152C(1)|p.W140C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACTCATTGCCCCAGTCAAGCC	0.562																																						uc003vfx.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(454-456)TGG>TGT		dedicator of cytokinesis 4							58.0	59.0	59.0					7																	111629078		2064	4198	6262	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111629078C>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.456G>T	7.37:g.111629078C>A	ENSP00000404179:p.Trp152Cys					DOCK4_uc003vfy.2_Missense_Mutation_p.W152C|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Missense_Mutation_p.W152C|DOCK4_uc003vgb.1_Missense_Mutation_p.W76C	p.W152C	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			6	725	-		Acute lymphoblastic leukemia(1;0.0441)	152					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.456G>T	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.64|17.64	3.438868|3.438868	0.63067|0.63067	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000445943|ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	.|T;T	.|0.03065	.|4.06;4.06	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.056571	.|0.85682	.|D	.|0.000000	T|T	0.07458|0.07458	0.0188|0.0188	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.25235	.|0.015;0.121;0.121;0.072	.|B;B;B;B	.|0.27262	.|0.027;0.049;0.078;0.033	T|T	0.12477|0.12477	-1.0546|-1.0546	5|10	.|0.72032	.|D	.|0.01	.|.	18.6737|18.6737	0.91521|0.91521	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|152;152;152;152	.|A4D0S8;Q149N6;Q149N5;Q8N1I0	.|.;.;.;DOCK4_HUMAN	V|C	140|140;152;152;140;151	.|ENSP00000410746:W152C;ENSP00000404179:W152C	.|ENSP00000345432:W140C	G|W	-|-	2|3	0|0	DOCK4|DOCK4	111416314|111416314	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	7.768000|7.768000	0.85345|0.85345	2.637000|2.637000	0.89404|0.89404	0.561000|0.561000	0.74099|0.74099	GGG|TGG		PASS	0.562	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		7	15	7	15	---	---	---	---
SLC13A1	6561	broad.mit.edu	37	7	122755604	122755604	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr7:122755604C>G	ENST00000194130.2	-	15	1795	c.1756G>C	c.(1756-1758)Gct>Cct	p.A586P	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	586					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.A586P(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ATAGCAGGAGCCCACGAAGGG	0.413																																						uc003vkm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1756-1758)GCT>CCT		solute carrier family 13 (sodium/sulfate	Succinic acid(DB00139)						172.0	136.0	148.0					7																	122755604		2203	4300	6503	SO:0001583	missense	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122755604C>G		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1756G>C	7.37:g.122755604C>G	ENSP00000194130:p.Ala586Pro					SLC13A1_uc010lks.2_Missense_Mutation_p.A462P	p.A586P	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN			15	1781	-			586					Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	c.1756G>C	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	C	34	5.371077	0.95923	.	.	ENSG00000081800	ENST00000194130	T	0.73047	-0.71	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.87912	0.6297	M	0.91872	3.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.976	D	0.89855	0.4012	10	0.87932	D	0	.	19.0709	0.93136	0.0:1.0:0.0:0.0	.	586;586	A4D0X1;Q9BZW2	.;S13A1_HUMAN	P	586	ENSP00000194130:A586P	ENSP00000194130:A586P	A	-	1	0	SLC13A1	122542840	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.599000	0.82757	2.744000	0.94065	0.655000	0.94253	GCT		PASS	0.413	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		14	40	14	40	---	---	---	---
OPN1SW	611	broad.mit.edu	37	7	128415130	128415130	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr7:128415130C>T	ENST00000249389.2	-	2	430	c.431G>A	c.(430-432)cGc>cAc	p.R144H		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	144					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)	p.R144H(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						GGAGCTGAAGCGGAAGTTGCC	0.552																																						uc003vnt.3																			1	Substitution - Missense(1)		lung(1)		0						c.(430-432)CGC>CAC		opsin 1 (cone pigments), short-wave-sensitive							101.0	77.0	85.0					7																	128415130		2203	4300	6503	SO:0001583	missense	611				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr7:128415130C>T	U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"""GPCR / Class A : Opsin receptors"""	1012	protein-coding gene	gene with protein product	"""color blindness, tritan"", ""blue-sensitive opsin"""	613522	"""blue cone photoreceptor pigment"""	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.431G>A	7.37:g.128415130C>T	ENSP00000249389:p.Arg144His						p.R144H	NM_001708	NP_001699	P03999	OPSB_HUMAN			2	431	-			144			Cytoplasmic (Potential).		Q13877	Missense_Mutation	SNP	ENST00000249389.2	37	c.431G>A	CCDS5806.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.701341	0.48307	.	.	ENSG00000128617	ENST00000249389	T	0.39787	1.06	4.92	4.92	0.64577	GPCR, rhodopsin-like superfamily (1);	0.226792	0.36628	N	0.002488	T	0.50684	0.1630	M	0.89095	3.005	0.33369	D	0.573338	B	0.18741	0.03	B	0.23716	0.048	T	0.64313	-0.6437	10	0.66056	D	0.02	.	11.3605	0.49640	0.0:0.8171:0.1829:0.0	.	144	P03999	OPSB_HUMAN	H	144	ENSP00000249389:R144H	ENSP00000249389:R144H	R	-	2	0	OPN1SW	128202366	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	1.125000	0.31332	2.567000	0.86603	0.655000	0.94253	CGC		PASS	0.552	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1	NM_001708		15	30	15	30	---	---	---	---
OR6B1	135946	broad.mit.edu	37	7	143701479	143701479	+	Silent	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr7:143701479C>A	ENST00000408922.2	+	1	458	c.390C>A	c.(388-390)ctC>ctA	p.L130L		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L130L(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GTCGCCCACTCCACTACCCAA	0.532																																						uc003wdt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(388-390)CTC>CTA		olfactory receptor, family 6, subfamily B,							89.0	92.0	91.0					7																	143701479		2161	4284	6445	SO:0001819	synonymous_variant	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701479C>A		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.390C>A	7.37:g.143701479C>A							p.L130L	NM_001005281	NP_001005281	O95007	OR6B1_HUMAN			1	390	+	Melanoma(164;0.0783)		130			Cytoplasmic (Potential).		A4D2G2|B9EH47|Q6IFP6|Q96R38	Silent	SNP	ENST00000408922.2	37	c.390C>A	CCDS43667.1																																																																																				PASS	0.532	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			21	47	21	47	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	147336265	147336265	+	Silent	SNP	A	A	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr7:147336265A>T	ENST00000361727.3	+	13	2481	c.1965A>T	c.(1963-1965)ccA>ccT	p.P655P		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	655	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.P655P(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCTACAACCCAGAAAAATACT	0.512										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1963-1965)CCA>CCT		cell recognition molecule Caspr2 precursor							135.0	124.0	128.0					7																	147336265		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147336265A>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1965A>T	7.37:g.147336265A>T		HNSCC(39;0.1)					p.P655P	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		13	2481	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	655			Extracellular (Potential).|Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.1965A>T	CCDS5889.1																																																																																				PASS	0.512	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			21	71	21	71	---	---	---	---
C7orf33	202865	broad.mit.edu	37	7	148312428	148312428	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr7:148312428C>T	ENST00000307003.2	+	3	830	c.469C>T	c.(469-471)Cat>Tat	p.H157Y		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	157								p.H157Y(1)		central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GGTACGTGGGCATGAAGTAAG	0.398																																						uc003wew.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(469-471)CAT>TAT		hypothetical protein LOC202865							130.0	125.0	127.0					7																	148312428		2203	4300	6503	SO:0001583	missense	202865							g.chr7:148312428C>T	BC021251	CCDS5890.1	7q36.1	2011-11-24			ENSG00000170279	ENSG00000170279			21724	protein-coding gene	gene with protein product							Standard	NM_145304		Approved		uc003wew.3	Q8WU49	OTTHUMG00000152756	ENST00000307003.2:c.469C>T	7.37:g.148312428C>T	ENSP00000304071:p.His157Tyr						p.H157Y	NM_145304	NP_660347	Q8WU49	CG033_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		3	830	+	Melanoma(164;0.15)		157						Missense_Mutation	SNP	ENST00000307003.2	37	c.469C>T	CCDS5890.1	.	.	.	.	.	.	.	.	.	.	C	3.030	-0.199790	0.06219	.	.	ENSG00000170279	ENST00000307003	.	.	.	2.12	0.264	0.15607	.	.	.	.	.	T	0.19005	0.0456	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.20472	-1.0274	8	0.51188	T	0.08	.	4.4624	0.11673	0.0:0.6575:0.0:0.3425	.	157	Q8WU49	CG033_HUMAN	Y	157	.	ENSP00000304071:H157Y	H	+	1	0	C7orf33	147943361	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.032000	0.13732	0.041000	0.15688	0.655000	0.94253	CAT		PASS	0.398	C7orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327684.1	NM_145304		30	59	30	59	---	---	---	---
CLN8	2055	broad.mit.edu	37	8	1728421	1728421	+	Silent	SNP	C	C	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr8:1728421C>G	ENST00000331222.4	+	3	796	c.549C>G	c.(547-549)ggC>ggG	p.G183G	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	183	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.G183G(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		TGCAGGCGGGCTGGTCCGAGT	0.453																																					Pancreas(155;338 1942 6138 10888 50612)	uc003wpo.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(547-549)GGC>GGG		ceroid-lipofuscinosis, neuronal 8							119.0	95.0	103.0					8																	1728421		2203	4300	6503	SO:0001819	synonymous_variant	2055				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane		g.chr8:1728421C>G	AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"""chromosome 8 open reading frame 61"""	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.549C>G	8.37:g.1728421C>G							p.G183G	NM_018941	NP_061764	Q9UBY8	CLN8_HUMAN		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)	3	854	+		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)	183			TLC.		Q86U71|Q96I95	Silent	SNP	ENST00000331222.4	37	c.549C>G	CCDS5956.1																																																																																				PASS	0.453	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2	NM_018941		9	25	9	25	---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10470689	10470689	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr8:10470689C>T	ENST00000382483.3	-	4	1142	c.919G>A	c.(919-921)Gat>Aat	p.D307N		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	307					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.D307N(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTCATGTCATCGCCAGCCACC	0.647																																						uc003wtc.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(919-921)GAT>AAT		retinitis pigmentosa 1-like 1							69.0	79.0	75.0					8																	10470689		2099	4209	6308	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10470689C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.919G>A	8.37:g.10470689C>T	ENSP00000371923:p.Asp307Asn						p.D307N	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1148	-			307					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.919G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	34	5.353894	0.95830	.	.	ENSG00000183638	ENST00000382483	T	0.18016	2.24	4.82	4.82	0.62117	.	0.000000	0.34460	U	0.003953	T	0.41511	0.1162	M	0.67397	2.05	0.53688	D	0.999974	D	0.89917	1.0	D	0.79108	0.992	T	0.32295	-0.9912	10	0.87932	D	0	-15.9109	17.054	0.86527	0.0:1.0:0.0:0.0	.	307	A6NKC6	.	N	307	ENSP00000371923:D307N	ENSP00000371923:D307N	D	-	1	0	RP1L1	10508099	1.000000	0.71417	0.047000	0.18901	0.208000	0.24298	5.695000	0.68279	2.493000	0.84123	0.591000	0.81541	GAT		PASS	0.647	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			14	43	14	43	---	---	---	---
DLC1	10395	broad.mit.edu	37	8	13357058	13357059	+	Missense_Mutation	DNP	CC	CC	TA	rs147848228		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr8:13357058_13357059CC>TA	ENST00000276297.4	-	2	931_932	c.522_523GG>TA	c.(520-525)ctGGta>ctTAta	p.V175I	DLC1_ENST00000511869.1_Missense_Mutation_p.V175I|DLC1_ENST00000316609.5_Missense_Mutation_p.V175I	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	175					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.V175I(6)|p.L174L(3)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CTTTCTTTTACCAGTGCTAATT	0.406																																						uc003wwm.2																			9	Substitution - Missense(6)|Substitution - coding silent(3)		lung(9)	ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(523-525)GTA>ATA|c.(520-522)CTG>CTT		deleted in liver cancer 1 isoform 1																																				SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13357058C>T|g.chr8:13357059C>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.522_523delinsTA	8.37:g.13357058_13357059delinsTA	ENSP00000276297:p.Val175Ile					DLC1_uc003wwn.2_Missense_Mutation_p.V175I|DLC1_uc011kxy.1_Missense_Mutation_p.V175I|DLC1_uc003wwn.2_Silent_p.L174L|DLC1_uc011kxy.1_Silent_p.L174L	p.V175I|p.L174L	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			2	967|966	-			175|174					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation|Silent	SNP	ENST00000276297.4	37	c.523G>A|c.522G>T	CCDS5989.1																																																																																				PASS	0.406	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		12	82|81	12	81	---	---	---	---
SLC20A2	6575	broad.mit.edu	37	8	42294928	42294928	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr8:42294928C>A	ENST00000342228.3	-	8	1471	c.1102G>T	c.(1102-1104)Gag>Tag	p.E368*	SLC20A2_ENST00000520179.1_Nonsense_Mutation_p.E368*|SLC20A2_ENST00000520262.1_Nonsense_Mutation_p.E368*	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	368					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)	p.E368*(1)		breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GGCTTCTCCTCGGGGCCCCTG	0.597																																						uc010lxl.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1102-1104)GAG>TAG		solute carrier family 20, member 2							114.0	114.0	114.0					8																	42294928		2203	4300	6503	SO:0001587	stop_gained	6575				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr8:42294928C>A		CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"""Solute carriers"""	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.1102G>T	8.37:g.42294928C>A	ENSP00000340465:p.Glu368*					SLC20A2_uc010lxm.2_Nonsense_Mutation_p.E368*|SLC20A2_uc003xpe.2_Nonsense_Mutation_p.E368*|SLC20A2_uc011lcu.1_Nonsense_Mutation_p.E170*	p.E368*	NM_006749	NP_006740	Q08357	S20A2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)		8	1796	-	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	368			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000342228.3	37	c.1102G>T	CCDS6132.1	.	.	.	.	.	.	.	.	.	.	C	35	5.444374	0.96187	.	.	ENSG00000168575	ENST00000342228;ENST00000520262;ENST00000520179	.	.	.	5.39	5.39	0.77823	.	0.192279	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-21.9684	10.1409	0.42734	0.0:0.9085:0.0:0.0915	.	.	.	.	X	368	.	ENSP00000340465:E368X	E	-	1	0	SLC20A2	42414085	1.000000	0.71417	0.846000	0.33378	0.292000	0.27327	4.954000	0.63631	2.503000	0.84419	0.655000	0.94253	GAG		PASS	0.597	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1			25	63	25	63	---	---	---	---
TOX	9760	broad.mit.edu	37	8	59728236	59728236	+	Silent	SNP	C	C	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr8:59728236C>G	ENST00000361421.1	-	7	1273	c.1053G>C	c.(1051-1053)ctG>ctC	p.L351L	RNU4-50P_ENST00000364361.1_RNA	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	351						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L351L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TCGAATTGATCAGCTGAGGAG	0.512																																					Pancreas(161;610 1969 17913 21374 22725)	uc003xtw.1																			1	Substitution - coding silent(1)		lung(1)	kidney(2)|lung(1)|skin(1)	4						c.(1051-1053)CTG>CTC		thymus high mobility group box protein TOX							97.0	99.0	98.0					8																	59728236		2203	4300	6503	SO:0001819	synonymous_variant	9760					nucleus	DNA binding	g.chr8:59728236C>G		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.1053G>C	8.37:g.59728236C>G							p.L351L	NM_014729	NP_055544	O94900	TOX_HUMAN			7	1274	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	351					Q96AV5	Silent	SNP	ENST00000361421.1	37	c.1053G>C	CCDS34897.1																																																																																				PASS	0.512	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		15	34	15	34	---	---	---	---
GGH	8836	broad.mit.edu	37	8	63938734	63938734	+	Missense_Mutation	SNP	G	G	A	rs376001011		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr8:63938734G>A	ENST00000260118.6	-	5	884	c.482C>T	c.(481-483)cCg>cTg	p.P161L	GGH_ENST00000518113.1_5'UTR|RP11-659E9.4_ENST00000521556.1_RNA	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	161	Gamma-glutamyl hydrolase. {ECO:0000255|PROSITE-ProRule:PRU00607}.				glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242)	p.P161L(1)		breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|Methotrexate(DB00563)	GAAGTTCAGCGGCATTGCCAC	0.418																																						uc003xuw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(481-483)CCG>CTG		gamma-glutamyl hydrolase precursor	Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	123.0	108.0	113.0		482	5.9	0.9	8		113	2,8598	2.2+/-6.3	0,2,4298	no	missense	GGH	NM_003878.2	98	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	161/319	63938734	3,13003	2203	4300	6503	SO:0001583	missense	8836				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity	g.chr8:63938734G>A	U55206	CCDS6177.1	8q12.3	2008-02-05			ENSG00000137563	ENSG00000137563	3.4.19.9		4248	protein-coding gene	gene with protein product		601509				8816764, 10570974	Standard	NM_003878		Approved		uc003xuw.3	Q92820	OTTHUMG00000164365	ENST00000260118.6:c.482C>T	8.37:g.63938734G>A	ENSP00000260118:p.Pro161Leu						p.P161L	NM_003878	NP_003869	Q92820	GGH_HUMAN			5	765	-	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)	161			Gamma-glutamyl hydrolase.			Missense_Mutation	SNP	ENST00000260118.6	37	c.482C>T	CCDS6177.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243684	0.79912	2.27E-4	2.33E-4	ENSG00000137563	ENST00000260118;ENST00000517622	T	0.44482	0.92	5.95	5.95	0.96441	.	0.044731	0.85682	D	0.000000	T	0.74168	0.3681	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78316	-0.2251	10	0.54805	T	0.06	-11.94	19.1638	0.93546	0.0:0.0:1.0:0.0	.	161	Q92820	GGH_HUMAN	L	161;122	ENSP00000260118:P161L	ENSP00000260118:P161L	P	-	2	0	GGH	64101288	1.000000	0.71417	0.876000	0.34364	0.596000	0.36781	6.725000	0.74752	2.831000	0.97527	0.609000	0.83330	CCG		PASS	0.418	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378453.1			10	37	10	37	---	---	---	---
CYP7B1	9420	broad.mit.edu	37	8	65509278	65509278	+	Missense_Mutation	SNP	C	C	A	rs377175165		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr8:65509278C>A	ENST00000310193.3	-	6	1615	c.1442G>T	c.(1441-1443)gGa>gTa	p.G481V	CYP7B1_ENST00000523954.1_Intron	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	481					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)	p.G481V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				GTAGTTTAGTCCTATGGGCTT	0.303																																						uc003xvj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1441-1443)GGA>GTA		cytochrome P450, family 7, subfamily B,		C	VAL/GLY	0,4402		0,0,2201	49.0	52.0	51.0		1442	-4.6	0.0	8		51	1,8599	1.2+/-3.3	0,1,4299	no	missense	CYP7B1	NM_004820.3	109	0,1,6500	AA,AC,CC		0.0116,0.0,0.0077	benign	481/507	65509278	1,13001	2201	4300	6501	SO:0001583	missense	9420				bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr8:65509278C>A	AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.1442G>T	8.37:g.65509278C>A	ENSP00000310721:p.Gly481Val						p.G481V	NM_004820	NP_004811	O75881	CP7B1_HUMAN			6	1646	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	481					B2RN07|Q9UNF5	Missense_Mutation	SNP	ENST00000310193.3	37	c.1442G>T	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	C	6.913	0.538103	0.13188	0.0	1.16E-4	ENSG00000172817	ENST00000310193	D	0.84730	-1.89	5.55	-4.62	0.03370	.	0.844365	0.10755	N	0.637881	T	0.64659	0.2618	N	0.16130	0.375	0.09310	N	0.999997	B	0.19583	0.037	B	0.18263	0.021	T	0.50701	-0.8797	10	0.33141	T	0.24	0.0418	1.985	0.03434	0.2084:0.4057:0.104:0.282	.	481	O75881	CP7B1_HUMAN	V	481	ENSP00000310721:G481V	ENSP00000310721:G481V	G	-	2	0	CYP7B1	65671832	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.147000	0.10234	-0.678000	0.05224	-0.253000	0.11424	GGA		PASS	0.303	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			10	27	10	27	---	---	---	---
CYP7B1	9420	broad.mit.edu	37	8	65509282	65509282	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr8:65509282T>A	ENST00000310193.3	-	6	1611	c.1438A>T	c.(1438-1440)Ata>Tta	p.I480L	CYP7B1_ENST00000523954.1_Intron	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	480					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)	p.I480L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TTTAGTCCTATGGGCTTATCA	0.318																																						uc003xvj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1438-1440)ATA>TTA		cytochrome P450, family 7, subfamily B,							50.0	53.0	52.0					8																	65509282		2201	4300	6501	SO:0001583	missense	9420				bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr8:65509282T>A	AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.1438A>T	8.37:g.65509282T>A	ENSP00000310721:p.Ile480Leu						p.I480L	NM_004820	NP_004811	O75881	CP7B1_HUMAN			6	1642	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	480					B2RN07|Q9UNF5	Missense_Mutation	SNP	ENST00000310193.3	37	c.1438A>T	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	T	11.59	1.683181	0.29872	.	.	ENSG00000172817	ENST00000310193	T	0.68624	-0.34	5.55	-11.1	0.00147	.	1.236040	0.05238	N	0.511692	T	0.41650	0.1168	N	0.25890	0.77	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.07366	-1.0776	10	0.14252	T	0.57	-0.6485	6.026	0.19656	0.1448:0.485:0.2006:0.1696	.	480	O75881	CP7B1_HUMAN	L	480	ENSP00000310721:I480L	ENSP00000310721:I480L	I	-	1	0	CYP7B1	65671836	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.336000	0.02660	-1.904000	0.01092	-0.371000	0.07208	ATA		PASS	0.318	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			9	27	9	27	---	---	---	---
PI15	51050	broad.mit.edu	37	8	75737654	75737654	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr8:75737654G>C	ENST00000260113.2	+	2	349	c.170G>C	c.(169-171)aGg>aCg	p.R57T	PI15_ENST00000523773.1_Missense_Mutation_p.R57T|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	57						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)	p.R57T(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			CCCAAAGCCAGGCGGAAGCGC	0.448																																						uc003yal.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(169-171)AGG>ACG		protease inhibitor 15 preproprotein							89.0	81.0	84.0					8																	75737654		2203	4300	6503	SO:0001583	missense	51050					extracellular region	peptidase inhibitor activity	g.chr8:75737654G>C	D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.170G>C	8.37:g.75737654G>C	ENSP00000260113:p.Arg57Thr					uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.R57T	p.R57T	NM_015886	NP_056970	O43692	PI15_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)		2	349	+	Breast(64;0.137)		57					Q68CY1	Missense_Mutation	SNP	ENST00000260113.2	37	c.170G>C	CCDS6218.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148572	0.78001	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.09255	3.0;3.0	5.16	5.16	0.70880	CAP domain (2);	0.000000	0.85682	D	0.000000	T	0.32102	0.0818	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	T	0.00617	-1.1642	10	0.27785	T	0.31	.	19.2125	0.93763	0.0:0.0:1.0:0.0	.	57	O43692	PI15_HUMAN	T	57	ENSP00000260113:R57T;ENSP00000428567:R57T	ENSP00000260113:R57T	R	+	2	0	PI15	75900209	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.166000	0.94766	2.840000	0.97914	0.655000	0.94253	AGG		PASS	0.448	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886		10	68	10	68	---	---	---	---
STMN2	11075	broad.mit.edu	37	8	80553671	80553671	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr8:80553671G>C	ENST00000220876.7	+	3	556	c.174G>C	c.(172-174)ttG>ttC	p.L58F	STMN2_ENST00000518111.1_Missense_Mutation_p.L58F|STMN2_ENST00000518491.1_Missense_Mutation_p.L47F	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin 2	58	Regulatory/phosphorylation domain. {ECO:0000255}.|SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				cellular response to nerve growth factor stimulus (GO:1990090)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|positive regulation of microtubule depolymerization (GO:0031117)|positive regulation of neuron projection development (GO:0010976)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)	p.L58F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			AGCTGATCTTGAAGCCACCAT	0.458																																						uc003ybj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(172-174)TTG>TTC		superiorcervical ganglia, neural specific 10							87.0	85.0	85.0					8																	80553671		1945	4153	6098	SO:0001583	missense	11075				intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding	g.chr8:80553671G>C		CCDS43748.1, CCDS56542.1	8q21.13	2014-04-01	2014-04-01	2001-07-13	ENSG00000104435	ENSG00000104435			10577	protein-coding gene	gene with protein product		600621	"""stathmin-like 2"""	SCGN10		8622778, 12140291	Standard	NM_007029		Approved	SCG10	uc022awk.1	Q93045	OTTHUMG00000164610	ENST00000220876.7:c.174G>C	8.37:g.80553671G>C	ENSP00000220876:p.Leu58Phe					STMN2_uc010lzp.2_RNA|STMN2_uc011lfn.1_Missense_Mutation_p.L58F	p.L58F	NM_007029	NP_008960	Q93045	STMN2_HUMAN	Epithelial(68;0.0229)|all cancers(69;0.0874)		3	225	+	all_lung(9;8.34e-05)		58			Regulatory/phosphorylation domain (Potential).		A8K9M2|G3V110|O14952|Q6PK68	Missense_Mutation	SNP	ENST00000220876.7	37	c.174G>C	CCDS43748.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490882	0.64074	.	.	ENSG00000104435	ENST00000220876;ENST00000414622;ENST00000518111;ENST00000518491	.	.	.	5.68	-0.189	0.13260	.	0.066843	0.64402	D	0.000010	T	0.75852	0.3906	M	0.86502	2.82	0.54753	D	0.999987	D;D	0.76494	0.999;0.998	D;D	0.91635	0.999;0.934	T	0.71686	-0.4518	9	0.62326	D	0.03	-3.8998	5.964	0.19315	0.5449:0.1287:0.3264:0.0	.	58;58	B7Z4K3;Q93045	.;STMN2_HUMAN	F	58;58;58;47	.	ENSP00000220876:L58F	L	+	3	2	STMN2	80716226	0.531000	0.26338	0.885000	0.34714	0.987000	0.75469	-0.181000	0.09740	-0.278000	0.09180	-0.373000	0.07131	TTG		PASS	0.458	STMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379261.2	NM_007029		27	34	27	34	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110476886	110476886	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr8:110476886G>T	ENST00000378402.5	+	49	7929	c.7825G>T	c.(7825-7827)Ggc>Tgc	p.G2609C		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2609					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.G2611C(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTTCCCCTTGGCGAATTTTT	0.433										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(7825-7827)GGC>TGC		fibrocystin L precursor							98.0	98.0	98.0					8																	110476886		1877	4112	5989	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110476886G>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7825G>T	8.37:g.110476886G>T	ENSP00000367655:p.Gly2609Cys	HNSCC(38;0.096)					p.G2609C	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		49	7929	+			2609			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.7825G>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128841	0.77549	.	.	ENSG00000205038	ENST00000378402	T	0.81330	-1.48	5.79	5.79	0.91817	Pectin lyase fold/virulence factor (1);	0.000000	0.85682	D	0.000000	D	0.92195	0.7525	M	0.92923	3.36	0.52501	D	0.999956	D	0.89917	1.0	D	0.91635	0.999	D	0.93148	0.6547	10	0.59425	D	0.04	.	17.516	0.87773	0.0:0.0:1.0:0.0	.	2609	Q86WI1	PKHL1_HUMAN	C	2609	ENSP00000367655:G2609C	ENSP00000367655:G2609C	G	+	1	0	PKHD1L1	110546062	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.117000	0.89575	2.726000	0.93360	0.655000	0.94253	GGC		PASS	0.433	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		25	76	25	76	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113697704	113697704	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr8:113697704G>A	ENST00000297405.5	-	15	2657	c.2413C>T	c.(2413-2415)Cac>Tac	p.H805Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.H765Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.H805Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.H701Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	805	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H765Y(1)|p.H805Y(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CGCAGTATGTGACTATTACTA	0.418										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(2413-2415)CAC>TAC		CUB and Sushi multiple domains 3 isoform 1							88.0	87.0	87.0					8																	113697704		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113697704G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2413C>T	8.37:g.113697704G>A	ENSP00000297405:p.His805Tyr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.H77Y|CSMD3_uc003ynt.2_Missense_Mutation_p.H765Y|CSMD3_uc011lhx.1_Missense_Mutation_p.H701Y	p.H805Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			15	2572	-			805			Extracellular (Potential).|CUB 4.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2413C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280958	0.80692	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2	5.96	5.96	0.96718	CUB (5);	0.068238	0.64402	D	0.000017	T	0.76744	0.4030	M	0.80982	2.52	0.35953	D	0.834056	P;P;D	0.76494	0.871;0.955;0.999	P;P;D	0.91635	0.609;0.803;0.999	T	0.73662	-0.3912	10	0.10902	T	0.67	.	20.4008	0.98991	0.0:0.0:1.0:0.0	.	701;805;765	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	765;805;145;701;805	ENSP00000345799:H765Y;ENSP00000297405:H805Y;ENSP00000341558:H145Y;ENSP00000412263:H701Y;ENSP00000343124:H805Y	ENSP00000297405:H805Y	H	-	1	0	CSMD3	113766880	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.023000	0.70848	2.826000	0.97356	0.655000	0.94253	CAC		PASS	0.418	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		22	41	22	41	---	---	---	---
ZFAT	57623	broad.mit.edu	37	8	135533199	135533199	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr8:135533199C>A	ENST00000377838.3	-	13	3335	c.3161G>T	c.(3160-3162)tGg>tTg	p.W1054L	ZFAT_ENST00000520214.1_Missense_Mutation_p.W1042L|ZFAT_ENST00000520727.1_Missense_Mutation_p.W1042L|ZFAT_ENST00000429442.2_Missense_Mutation_p.W1042L|ZFAT_ENST00000523399.1_Missense_Mutation_p.W992L|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000520356.1_Missense_Mutation_p.W1042L	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1054					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.W1054L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ATTGAACTCCCATTTGGTGCC	0.388																																						uc003yup.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(3160-3162)TGG>TTG		zinc finger protein 406 isoform ZFAT-1							80.0	76.0	77.0					8																	135533199		1858	4114	5972	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135533199C>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3161G>T	8.37:g.135533199C>A	ENSP00000367069:p.Trp1054Leu					ZFAT_uc011ljj.1_Missense_Mutation_p.W173L|ZFAT_uc003yun.2_Missense_Mutation_p.W1042L|ZFAT_uc003yuo.2_Missense_Mutation_p.W1042L|ZFAT_uc010meh.2_Missense_Mutation_p.W1042L|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.W1042L|ZFAT_uc010mej.2_Missense_Mutation_p.W992L	p.W1054L	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		13	3336	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		1054			C2H2-type 19.		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.3161G>T	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776804	0.90195	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.53	5.53	0.82687	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.81997	0.4941	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.998;0.999	T	0.75838	-0.3176	10	0.11485	T	0.65	-17.5784	18.0777	0.89432	0.0:1.0:0.0:0.0	.	173;992;1042;1054	B7Z741;E9PER3;E9PBN4;Q9P243	.;.;.;ZFAT_HUMAN	L	1042;1042;1042;1054;1042;941;992	ENSP00000427879:W1042L;ENSP00000427831:W1042L;ENSP00000394501:W1042L;ENSP00000367069:W1054L;ENSP00000428483:W1042L;ENSP00000429091:W992L	ENSP00000326997:W941L	W	-	2	0	ZFAT	135602381	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.484000	0.73621	2.614000	0.88457	0.644000	0.83932	TGG		PASS	0.388	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		17	35	17	35	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139611003	139611003	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr8:139611003G>C	ENST00000303045.6	-	61	4770	c.4324C>G	c.(4324-4326)Ccc>Gcc	p.P1442A	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1422A|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1442	Collagen-like 14.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.P1442A(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGCCCTGGGGGTCCAACTGGT	0.632										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(4324-4326)CCC>GCC		collagen, type XXII, alpha 1							64.0	68.0	67.0					8																	139611003		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139611003G>C	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4324C>G	8.37:g.139611003G>C	ENSP00000303153:p.Pro1442Ala	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.P722A	p.P1442A	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		61	4771	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1442			Pro-rich.|Gly-rich.|Collagen-like 14.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4324C>G	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169568	0.38315	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93019	-3.15;-3.15	5.48	5.48	0.80851	.	0.000000	0.45126	U	0.000391	D	0.88742	0.6519	L	0.44542	1.39	0.40800	D	0.983332	B;P	0.34934	0.078;0.476	B;B	0.36378	0.192;0.223	D	0.85497	0.1189	10	0.06099	T	0.92	.	13.3226	0.60440	0.0:0.0:0.8422:0.1578	.	1422;1442	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	A	1442;1422;1135	ENSP00000303153:P1442A;ENSP00000387655:P1422A	ENSP00000303153:P1442A	P	-	1	0	COL22A1	139680185	1.000000	0.71417	0.994000	0.49952	0.958000	0.62258	5.153000	0.64888	2.569000	0.86673	0.555000	0.69702	CCC		PASS	0.632	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		19	25	19	25	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109689491	109689491	+	Missense_Mutation	SNP	C	C	A	rs76712188		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr9:109689491C>A	ENST00000277225.5	+	3	3587	c.3298C>A	c.(3298-3300)Ccc>Acc	p.P1100T	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.P1100T			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1100					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P1100T(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GGGTTCCCCACCCCCCCCACA	0.527																																						uc004bcz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(3298-3300)CCC>ACC		zinc finger protein 462							30.0	32.0	31.0					9																	109689491		2202	4300	6502	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109689491C>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.3298C>A	9.37:g.109689491C>A	ENSP00000277225:p.Pro1100Thr					ZNF462_uc010mto.2_Missense_Mutation_p.P948T|ZNF462_uc004bda.2_Missense_Mutation_p.P948T	p.P1100T	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			3	3587	+			1100					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.3298C>A	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304177	0.23736	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.04917	3.53;3.98	5.37	5.37	0.77165	.	0.377447	0.30949	N	0.008558	T	0.03695	0.0105	N	0.03608	-0.345	0.80722	D	1	B;B	0.30482	0.055;0.281	B;B	0.27076	0.023;0.076	T	0.56372	-0.7990	9	.	.	.	-16.4303	19.1063	0.93296	0.0:1.0:0.0:0.0	.	1100;1100	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	T	1100	ENSP00000277225:P1100T;ENSP00000414570:P1100T	.	P	+	1	0	ZNF462	108729312	0.805000	0.28982	1.000000	0.80357	0.998000	0.95712	0.257000	0.18369	2.513000	0.84729	0.561000	0.74099	CCC		PASS	0.527	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		3	12	3	12	---	---	---	---
ASB6	140459	broad.mit.edu	37	9	132400573	132400573	+	Missense_Mutation	SNP	G	G	C	rs200292613		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr9:132400573G>C	ENST00000277458.4	-	6	927	c.762C>G	c.(760-762)agC>agG	p.S254R	ASB6_ENST00000277459.4_3'UTR|ASB6_ENST00000450050.2_Missense_Mutation_p.S175R|RP11-483H20.4_ENST00000455074.1_RNA	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	254					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.S254R(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				CTGGGCACTCGCTGGGGTCGG	0.622																																						uc004byf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(760-762)AGC>AGG		ankyrin repeat and SOCS box-containing 6 isoform							54.0	55.0	54.0					9																	132400573		2203	4300	6503	SO:0001583	missense	140459				intracellular signal transduction	cytoplasm		g.chr9:132400573G>C		CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331		"""Ankyrin repeat domain containing"""	17181	protein-coding gene	gene with protein product		615051	"""ankyrin repeat and SOCS box-containing 6"""				Standard	NM_017873		Approved		uc004byf.2	Q9NWX5	OTTHUMG00000020787	ENST00000277458.4:c.762C>G	9.37:g.132400573G>C	ENSP00000277458:p.Ser254Arg					ASB6_uc004bye.1_Missense_Mutation_p.S179R|ASB6_uc004byg.1_3'UTR|ASB6_uc011mbt.1_Missense_Mutation_p.S175R|ASB6_uc010myx.1_Missense_Mutation_p.S225R	p.S254R	NM_017873	NP_060343	Q9NWX5	ASB6_HUMAN			6	928	-		Ovarian(14;0.00556)	254			ANK 5.		Q5SZB7|Q9BV15	Missense_Mutation	SNP	ENST00000277458.4	37	c.762C>G	CCDS6924.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866485	0.51588	.	.	ENSG00000148331	ENST00000277458;ENST00000450050	T;T	0.53640	0.61;0.61	4.3	-0.465	0.12157	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.52092	0.1713	L	0.32530	0.975	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.85130	0.997;0.989;0.989	T	0.51116	-0.8746	10	0.87932	D	0	-25.0984	10.2756	0.43507	0.4374:0.0:0.5626:0.0	.	175;254;254	B4DRC4;A8K9U2;Q9NWX5	.;.;ASB6_HUMAN	R	254;175	ENSP00000277458:S254R;ENSP00000416172:S175R	ENSP00000277458:S254R	S	-	3	2	ASB6	131440394	0.999000	0.42202	0.998000	0.56505	0.742000	0.42306	0.485000	0.22324	0.010000	0.14839	0.462000	0.41574	AGC		PASS	0.622	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054594.1	NM_017873		11	14	11	14	---	---	---	---
VAV2	7410	broad.mit.edu	37	9	136662858	136662858	+	Missense_Mutation	SNP	G	G	C	rs150680379		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr9:136662858G>C	ENST00000371850.3	-	10	941	c.910C>G	c.(910-912)Cgg>Ggg	p.R304G	VAV2_ENST00000406606.3_Missense_Mutation_p.R299G|VAV2_ENST00000371851.1_Missense_Mutation_p.R299G	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	304	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R299G(1)|p.R304G(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		AAGTCCTCCCGGCTGGCCAGG	0.617																																						uc004ces.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						c.(910-912)CGG>GGG		vav 2 guanine nucleotide exchange factor isoform							107.0	90.0	96.0					9																	136662858		2203	4300	6503	SO:0001583	missense	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136662858G>C		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.910C>G	9.37:g.136662858G>C	ENSP00000360916:p.Arg304Gly					VAV2_uc004cer.2_Missense_Mutation_p.R299G	p.R304G	NM_001134398	NP_001127870	P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	10	956	-			304			DH.		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	c.910C>G	CCDS48053.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065292	0.76187	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.63417	-0.04;-0.04;-0.04	4.01	3.09	0.35607	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.76090	0.3939	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.973	T	0.77161	-0.2689	10	0.56958	D	0.05	.	12.8733	0.57977	0.0:0.0:0.8277:0.1723	.	304;299	P52735;P52735-3	VAV2_HUMAN;.	G	304;299;299;299	ENSP00000360916:R304G;ENSP00000360917:R299G;ENSP00000385362:R299G	ENSP00000317258:R299G	R	-	1	2	VAV2	135652679	1.000000	0.71417	0.997000	0.53966	0.874000	0.50279	2.064000	0.41432	0.764000	0.33197	0.563000	0.77884	CGG		PASS	0.617	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			5	9	5	9	---	---	---	---
VAV2	7410	broad.mit.edu	37	9	136726513	136726513	+	Silent	SNP	C	C	A	rs145591299	byFrequency	TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr9:136726513C>A	ENST00000371850.3	-	3	394	c.363G>T	c.(361-363)gcG>gcT	p.A121A	VAV2_ENST00000406606.3_Silent_p.A121A|VAV2_ENST00000486113.1_5'UTR|VAV2_ENST00000371851.1_Silent_p.A121A	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	121					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A121A(3)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CTTTGTTCTGCGCGATGCTGT	0.567																																						uc004ces.2																			3	Substitution - coding silent(3)		lung(2)|pancreas(1)	central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						c.(361-363)GCG>GCT		vav 2 guanine nucleotide exchange factor isoform							87.0	80.0	82.0					9																	136726513		2203	4300	6503	SO:0001819	synonymous_variant	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136726513C>A		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.363G>T	9.37:g.136726513C>A						VAV2_uc004cer.2_Silent_p.A121A	p.A121A	NM_001134398	NP_001127870	P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	3	409	-			121					A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Silent	SNP	ENST00000371850.3	37	c.363G>T	CCDS48053.1																																																																																				PASS	0.567	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			3	7	3	7	---	---	---	---
NSUN6	221078	broad.mit.edu	37	10	18835047	18835047	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr10:18835047T>A	ENST00000377304.4	-	11	1643	c.1225A>T	c.(1225-1227)Agg>Tgg	p.R409W	NSUN6_ENST00000493816.1_5'UTR|RP11-499P20.2_ENST00000425669.1_RNA|RP11-499P20.2_ENST00000436485.1_RNA	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	409							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.R409W(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						CCAGCTCCCCTCATTCCTTCT	0.463																																						uc010qcp.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1225-1227)AGG>TGG		NOL1/NOP2/Sun domain family, member 6							152.0	149.0	150.0					10																	18835047		2203	4300	6503	SO:0001583	missense	221078						methyltransferase activity|RNA binding	g.chr10:18835047T>A	BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"""NOP2/Sun domain containing"""	23529	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 6"", ""NOL1/NOP2/Sun domain family, member 6"", ""ARL5B antisense RNA 1"""	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.1225A>T	10.37:g.18835047T>A	ENSP00000366519:p.Arg409Trp					NSUN6_uc001iqb.2_5'Flank	p.R409W	NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN			11	1643	-			409					B0YJ54	Missense_Mutation	SNP	ENST00000377304.4	37	c.1225A>T	CCDS7130.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.583075	0.65992	.	.	ENSG00000241058	ENST00000377304	T	0.25579	1.79	5.5	-9.27	0.00659	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	1.027660	0.07621	N	0.927031	T	0.15739	0.0379	L	0.34521	1.04	0.27663	N	0.947001	P	0.35774	0.519	B	0.38562	0.276	T	0.34900	-0.9810	10	0.62326	D	0.03	.	5.7691	0.18243	0.0967:0.2292:0.5213:0.1528	.	409	Q8TEA1	NSUN6_HUMAN	W	409	ENSP00000366519:R409W	ENSP00000366519:R409W	R	-	1	2	NSUN6	18875053	0.112000	0.22096	0.801000	0.32222	0.833000	0.47200	-0.872000	0.04219	-1.430000	0.01985	-0.316000	0.08728	AGG		PASS	0.463	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047083.1	NM_182543		15	86	15	86	---	---	---	---
GAD2	2572	broad.mit.edu	37	10	26518595	26518595	+	Silent	SNP	C	C	A	rs149136572	byFrequency	TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr10:26518595C>A	ENST00000376261.3	+	7	1232	c.729C>A	c.(727-729)ggC>ggA	p.G243G	GAD2_ENST00000259271.3_Silent_p.G243G	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	243					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.G243G(3)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTTTAGGTGGCGCCATATCTA	0.443																																						uc001isp.2																			3	Substitution - coding silent(3)		large_intestine(2)|lung(1)	central_nervous_system(1)|skin(1)	2						c.(727-729)GGC>GGA		glutamate decarboxylase 2	L-Glutamic Acid(DB00142)						197.0	161.0	173.0					10																	26518595		2203	4300	6503	SO:0001819	synonymous_variant	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26518595C>A	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.729C>A	10.37:g.26518595C>A						GAD2_uc001isq.2_Silent_p.G243G	p.G243G	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN			7	1232	+			243					Q9UD87	Silent	SNP	ENST00000376261.3	37	c.729C>A	CCDS7149.1																																																																																				PASS	0.443	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		12	18	12	18	---	---	---	---
APBB1IP	54518	broad.mit.edu	37	10	26789824	26789824	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr10:26789824G>T	ENST00000376236.4	+	5	692	c.237G>T	c.(235-237)gaG>gaT	p.E79D	APBB1IP_ENST00000356785.4_Missense_Mutation_p.E79D	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	79					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)		p.E79D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						GTGAGGCTGAGCAGAGGACAA	0.438																																						uc001iss.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|skin(2)|central_nervous_system(1)	7						c.(235-237)GAG>GAT		amyloid beta (A4) precursor protein-binding,							128.0	116.0	120.0					10																	26789824		2203	4300	6503	SO:0001583	missense	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26789824G>T	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.237G>T	10.37:g.26789824G>T	ENSP00000365411:p.Glu79Asp					APBB1IP_uc001isr.2_Missense_Mutation_p.E79D|APBB1IP_uc009xks.1_Missense_Mutation_p.E79D	p.E79D	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN			5	558	+			79					Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	ENST00000376236.4	37	c.237G>T	CCDS31167.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312496	0.81358	.	.	ENSG00000077420	ENST00000445780;ENST00000376236;ENST00000356785	T	0.37584	1.19	5.84	-0.876	0.10624	.	0.042805	0.85682	D	0.000000	T	0.50326	0.1609	M	0.63843	1.955	0.42380	D	0.992482	D;D;D	0.89917	0.993;0.999;1.0	D;D;D	0.83275	0.965;0.991;0.996	T	0.50642	-0.8804	10	0.72032	D	0.01	.	9.5382	0.39235	0.6013:0.0:0.3987:0.0	.	79;79;79	B4E100;Q7Z5R6;Q8IYL7	.;AB1IP_HUMAN;.	D	79	ENSP00000365411:E79D	ENSP00000349237:E79D	E	+	3	2	APBB1IP	26829830	0.991000	0.36638	0.998000	0.56505	0.904000	0.53231	0.560000	0.23500	0.030000	0.15379	0.563000	0.77884	GAG		PASS	0.438	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		21	46	21	46	---	---	---	---
SVIL	6840	broad.mit.edu	37	10	29812615	29812615	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr10:29812615G>T	ENST00000355867.4	-	15	3680	c.2928C>A	c.(2926-2928)taC>taA	p.Y976*	SVIL_ENST00000535393.1_5'Flank|SVIL_ENST00000375398.2_Nonsense_Mutation_p.Y976*|SVIL_ENST00000375400.3_Nonsense_Mutation_p.Y550*	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	976					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.Y976*(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCAGGATGGGGTAGGATGCTT	0.517																																						uc001iut.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(2926-2928)TAC>TAA		supervillin isoform 2							194.0	166.0	175.0					10																	29812615		2203	4300	6503	SO:0001587	stop_gained	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29812615G>T	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.2928C>A	10.37:g.29812615G>T	ENSP00000348128:p.Tyr976*					SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Nonsense_Mutation_p.Y550*	p.Y976*	NM_021738	NP_068506	O95425	SVIL_HUMAN			15	3681	-		Breast(68;0.103)	976					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Nonsense_Mutation	SNP	ENST00000355867.4	37	c.2928C>A	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	45	11.449115	0.99562	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	.	.	.	5.14	-0.264	0.12950	.	1.499290	0.03594	N	0.232309	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.1981	5.1442	0.14975	0.4778:0.1503:0.3718:0.0	.	.	.	.	X	550;976;976	.	.	Y	-	3	2	SVIL	29852621	0.029000	0.19370	0.000000	0.03702	0.003000	0.03518	0.162000	0.16501	0.037000	0.15575	-0.214000	0.12660	TAC		PASS	0.517	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			6	47	6	47	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37430680	37430680	+	Silent	SNP	A	A	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr10:37430680A>G	ENST00000602533.1	+	7	786	c.687A>G	c.(685-687)gcA>gcG	p.A229A	ANKRD30A_ENST00000361713.1_Silent_p.A229A|ANKRD30A_ENST00000374660.1_Silent_p.A229A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	285					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A229A(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATGAGGCTGCACCCTTGGCGG	0.478																																						uc001iza.1																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(685-687)GCA>GCG		ankyrin repeat domain 30A							33.0	34.0	33.0					10																	37430680		1881	4105	5986	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37430680A>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.687A>G	10.37:g.37430680A>G							p.A229A	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			7	786	+			285					Q5W025	Silent	SNP	ENST00000602533.1	37	c.687A>G																																																																																					PASS	0.478	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		9	21	9	21	---	---	---	---
ZNF37A	7587	broad.mit.edu	37	10	38407647	38407647	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr10:38407647A>G	ENST00000361085.5	+	7	1913	c.1568A>G	c.(1567-1569)tAt>tGt	p.Y523C	ZNF37A_ENST00000351773.3_Missense_Mutation_p.Y523C	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	523					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.Y523C(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						GAGAAACCCTATGAATGTAAT	0.358																																						uc001izk.2																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(1567-1569)TAT>TGT		zinc finger protein 37a							58.0	58.0	58.0					10																	38407647		2203	4300	6503	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38407647A>G	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.1568A>G	10.37:g.38407647A>G	ENSP00000354377:p.Tyr523Cys					ZNF37A_uc001izl.2_Missense_Mutation_p.Y523C|ZNF37A_uc001izm.2_Missense_Mutation_p.Y523C	p.Y523C	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN			8	2387	+			523			C2H2-type 12.		B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.1568A>G	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.824833	0.32237	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.25414	1.8;1.8	2.06	-1.05	0.10036	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38878	0.1057	L	0.55213	1.73	0.26334	N	0.977472	D	0.89917	1.0	D	0.85130	0.997	T	0.21008	-1.0258	9	0.87932	D	0	.	5.4381	0.16492	0.5651:0.0:0.0:0.4349	.	523	P17032	ZN37A_HUMAN	C	523	ENSP00000329141:Y523C;ENSP00000354377:Y523C	ENSP00000329141:Y523C	Y	+	2	0	ZNF37A	38447653	0.000000	0.05858	0.993000	0.49108	0.958000	0.62258	-0.600000	0.05693	0.051000	0.15978	-0.468000	0.05107	TAT		PASS	0.358	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		4	26	4	26	---	---	---	---
RBP3	5949	broad.mit.edu	37	10	48389413	48389413	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr10:48389413C>G	ENST00000224600.4	-	1	1578	c.1465G>C	c.(1465-1467)Gtg>Ctg	p.V489L	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	489	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.V489L(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGCAGGGGCACAGCAGAGGAT	0.642																																						uc001jez.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(1465-1467)GTG>CTG		retinol-binding protein 3 precursor	Vitamin A(DB00162)						35.0	39.0	38.0					10																	48389413		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389413C>G	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1465G>C	10.37:g.48389413C>G	ENSP00000224600:p.Val489Leu						p.V489L	NM_002900	NP_002891	P10745	RET3_HUMAN			1	1579	-			489			4 X approximate tandem repeats.|2.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.1465G>C	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	0.713	-0.786426	0.02907	.	.	ENSG00000107618	ENST00000224600	T	0.62498	0.02	5.43	2.46	0.29980	Interphotoreceptor retinol-binding (2);	0.412895	0.23474	N	0.047799	T	0.36138	0.0956	N	0.12961	0.28	0.24484	N	0.994337	B	0.02656	0.0	B	0.06405	0.002	T	0.12142	-1.0559	10	0.21014	T	0.42	-12.4004	3.5128	0.07714	0.1337:0.5747:0.1445:0.1471	.	489	P10745	RET3_HUMAN	L	489	ENSP00000224600:V489L	ENSP00000224600:V489L	V	-	1	0	RBP3	48009419	0.051000	0.20477	0.188000	0.23233	0.243000	0.25628	0.360000	0.20250	0.232000	0.21100	-0.311000	0.09066	GTG		PASS	0.642	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		7	6	7	6	---	---	---	---
SLC18A3	6572	broad.mit.edu	37	10	50820165	50820165	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr10:50820165T>A	ENST00000374115.3	+	1	1819	c.1379T>A	c.(1378-1380)cTg>cAg	p.L460Q	CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	460					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)	p.L460Q(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CTGGCCAACCTGCTCTATGCT	0.637																																						uc001jhw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1378-1380)CTG>CAG		vesicular acetylcholine transporter							75.0	52.0	59.0					10																	50820165		2203	4300	6503	SO:0001583	missense	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50820165T>A	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1379T>A	10.37:g.50820165T>A	ENSP00000363229:p.Leu460Gln					CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	p.L460Q	NM_003055	NP_003046	Q16572	VACHT_HUMAN			1	1819	+			460			Helical; (Potential).		B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	c.1379T>A	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	T	18.90	3.720702	0.68959	.	.	ENSG00000187714	ENST00000374115	D	0.84298	-1.83	5.11	3.94	0.45596	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.263099	0.29486	U	0.012009	D	0.89832	0.6829	M	0.71036	2.16	0.36030	D	0.839365	D	0.67145	0.996	P	0.62740	0.906	D	0.91897	0.5528	10	0.87932	D	0	-11.6597	11.0565	0.47922	0.1392:0.0:0.0:0.8608	.	460	Q16572	VACHT_HUMAN	Q	460	ENSP00000363229:L460Q	ENSP00000363229:L460Q	L	+	2	0	SLC18A3	50490171	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.040000	0.89188	0.749000	0.32854	0.459000	0.35465	CTG		PASS	0.637	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		3	13	3	13	---	---	---	---
CHAT	1103	broad.mit.edu	37	10	50856551	50856551	+	Splice_Site	SNP	A	A	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr10:50856551A>G	ENST00000337653.2	+	9	1434		c.e9-1		CHAT_ENST00000395562.2_Splice_Site|CHAT_ENST00000455728.2_Splice_Site|CHAT_ENST00000351556.3_Splice_Site|CHAT_ENST00000395559.2_Splice_Site|CHAT_ENST00000339797.1_Splice_Site	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase						adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)	p.?(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	TTCCTGTTGCAGTTTGTGGTG	0.607																																						uc001jhz.2																			1	Unknown(1)		lung(1)	central_nervous_system(3)	3						c.e9-2		choline acetyltransferase isoform 2	Choline(DB00122)						104.0	63.0	77.0					10																	50856551		2203	4300	6503	SO:0001630	splice_region_variant	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50856551A>G	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1282-1A>G	10.37:g.50856551A>G						CHAT_uc001jhv.1_Splice_Site_p.F310_splice|CHAT_uc001jhx.1_Splice_Site_p.F310_splice|CHAT_uc001jhy.1_Splice_Site_p.F310_splice|CHAT_uc001jia.2_Splice_Site_p.F310_splice|CHAT_uc010qgs.1_Splice_Site_p.F310_splice	p.F428_splice	NM_020549	NP_065574	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	9	1435	+		all_neural(218;0.107)						A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Splice_Site	SNP	ENST00000337653.2	37	c.1282_splice	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.419235	0.62622	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7171	0.69277	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHAT	50526557	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	9.339000	0.96797	1.886000	0.54624	0.379000	0.24179	.		PASS	0.607	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549	Intron	3	9	3	9	---	---	---	---
PDLIM1	9124	broad.mit.edu	37	10	97007015	97007015	+	Silent	SNP	C	C	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr10:97007015C>T	ENST00000329399.6	-	5	750	c.642G>A	c.(640-642)acG>acA	p.T214T	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	214					regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.T214T(1)		endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CCAAGAAAGACGTGGACTGTT	0.468																																						uc001kkh.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(640-642)ACG>ACA		PDZ and LIM domain 1							129.0	123.0	125.0					10																	97007015		2203	4300	6503	SO:0001819	synonymous_variant	9124				response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding	g.chr10:97007015C>T	U90878	CCDS7441.1	10q23.1	2008-07-29	2008-07-29		ENSG00000107438	ENSG00000107438			2067	protein-coding gene	gene with protein product	"""carboxyl terminal LIM domain protein 1"", ""elfin"""	605900	"""PDZ and LIM domain 1 (elfin)"""	CLIM1		10861853	Standard	NM_020992		Approved	CLP-36, hCLIM1, CLP36	uc001kkh.4	O00151	OTTHUMG00000018810	ENST00000329399.6:c.642G>A	10.37:g.97007015C>T						PDLIM1_uc001kki.2_Silent_p.T214T|PDLIM1_uc009xuv.2_Silent_p.T214T|PDLIM1_uc001kkj.1_Silent_p.T214T	p.T214T	NM_020992	NP_066272	O00151	PDLI1_HUMAN		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)	5	751	-		Colorectal(252;0.083)	214					B2RBS6|Q5VZH5|Q9BPZ9	Silent	SNP	ENST00000329399.6	37	c.642G>A	CCDS7441.1																																																																																				PASS	0.468	PDLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049508.1			19	95	19	95	---	---	---	---
C10orf62	414157	broad.mit.edu	37	10	99350269	99350269	+	Silent	SNP	C	C	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr10:99350269C>T	ENST00000370640.3	+	1	820	c.615C>T	c.(613-615)caC>caT	p.H205H	PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370647.4_Intron|HOGA1_ENST00000370646.4_Intron	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN	chromosome 10 open reading frame 62	205	His-rich.							p.H205H(1)		endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		ACAGTCACCACAGTCACCATG	0.532																																						uc001koa.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(613-615)CAC>CAT		hypothetical protein LOC414157							82.0	73.0	76.0					10																	99350269		2203	4300	6503	SO:0001819	synonymous_variant	414157						protein binding	g.chr10:99350269C>T		CCDS31261.1	10q24.2	2012-05-31			ENSG00000203942	ENSG00000203942			23294	protein-coding gene	gene with protein product							Standard	NM_001009997		Approved	bA548K23.1	uc001koa.3	Q5T681	OTTHUMG00000018858	ENST00000370640.3:c.615C>T	10.37:g.99350269C>T						DHDPSL_uc001knx.2_Intron|DHDPSL_uc001kny.2_Intron|DHDPSL_uc001knz.2_Intron|PI4K2A_uc010qoy.1_Intron	p.H205H	NM_001009997	NP_001009997	Q5T681	CJ062_HUMAN		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)	1	786	+		Colorectal(252;0.162)	205			His-rich.		Q49A70|Q8N3Y6	Silent	SNP	ENST00000370640.3	37	c.615C>T	CCDS31261.1																																																																																				PASS	0.532	C10orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049723.1	NM_001009997		10	38	10	38	---	---	---	---
PSD	5662	broad.mit.edu	37	10	104176612	104176612	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr10:104176612G>A	ENST00000020673.5	-	2	710	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C	PSD_ENST00000406432.1_Missense_Mutation_p.R62C|FBXL15_ENST00000224862.3_5'Flank|FBXL15_ENST00000369956.2_5'Flank|PSD_ENST00000492902.2_5'UTR	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	62	Pro-rich.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)	p.R62C(1)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCTGTCACACGTCCCAGTTCC	0.697																																						uc001kvg.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|urinary_tract(1)	3						c.(184-186)CGT>TGT		pleckstrin and Sec7 domain containing							37.0	37.0	37.0					10																	104176612		2200	4297	6497	SO:0001583	missense	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104176612G>A	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.184C>T	10.37:g.104176612G>A	ENSP00000020673:p.Arg62Cys					PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Missense_Mutation_p.R62C|PSD_uc001kvi.1_Missense_Mutation_p.R62C|FBXL15_uc001kvj.1_5'Flank|FBXL15_uc001kvk.2_5'Flank	p.R62C	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	2	711	-			62			Pro-rich.		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	c.184C>T	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468793	0.63625	.	.	ENSG00000059915	ENST00000020673;ENST00000406432	T;T	0.27104	1.69;1.69	5.08	4.15	0.48705	.	0.105137	0.39909	N	0.001223	T	0.17023	0.0409	N	0.08118	0	0.39339	D	0.965558	D	0.65815	0.995	P	0.47044	0.535	T	0.09037	-1.0693	10	0.87932	D	0	.	10.4734	0.44650	0.0:0.0:0.647:0.353	.	62	A5PKW4	PSD1_HUMAN	C	62	ENSP00000020673:R62C;ENSP00000384830:R62C	ENSP00000020673:R62C	R	-	1	0	PSD	104166602	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.646000	0.54396	1.092000	0.41356	0.561000	0.74099	CGT		PASS	0.697	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			13	23	13	23	---	---	---	---
COL17A1	1308	broad.mit.edu	37	10	105814742	105814742	+	Nonsense_Mutation	SNP	T	T	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr10:105814742T>A	ENST00000353479.5	-	20	2031	c.1741A>T	c.(1741-1743)Aaa>Taa	p.K581*	COL17A1_ENST00000480127.1_5'Flank|COL17A1_ENST00000369733.3_Nonsense_Mutation_p.K581*	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	581	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.K581*(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TAATTACCTTTAGGGCCTGGA	0.398																																						uc001kxr.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(1741-1743)AAA>TAA		alpha 1 type XVII collagen							68.0	64.0	65.0					10																	105814742		2203	4300	6503	SO:0001587	stop_gained	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105814742T>A	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.1741A>T	10.37:g.105814742T>A	ENSP00000340937:p.Lys581*					COL17A1_uc010qqv.1_Nonsense_Mutation_p.K565*	p.K581*	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	20	1910	-		Colorectal(252;0.103)|Breast(234;0.122)	581			Extracellular (Potential).|Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Nonsense_Mutation	SNP	ENST00000353479.5	37	c.1741A>T	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	T	40	8.077499	0.98643	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872	.	.	.	4.82	4.82	0.62117	.	0.127827	0.35320	N	0.003291	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3922	0.55364	0.0:0.0:0.0:1.0	.	.	.	.	X	581;581;565	.	ENSP00000340937:K581X	K	-	1	0	COL17A1	105804732	0.998000	0.40836	1.000000	0.80357	0.768000	0.43524	3.208000	0.51114	2.027000	0.59764	0.454000	0.30748	AAA		PASS	0.398	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		6	31	6	31	---	---	---	---
FAM53B	9679	broad.mit.edu	37	10	126311970	126311970	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr10:126311970C>A	ENST00000337318.3	-	5	1321	c.1110G>T	c.(1108-1110)caG>caT	p.Q370H	FAM53B_ENST00000392754.3_Missense_Mutation_p.Q370H|RP11-12J10.3_ENST00000494792.1_Intron	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	370								p.Q370H(1)		cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		ACAGGTCCTCCTGGCAGGCGA	0.726																																						uc001lhv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1108-1110)CAG>CAT		hypothetical protein LOC9679							18.0	18.0	18.0					10																	126311970		2198	4291	6489	SO:0001583	missense	9679							g.chr10:126311970C>A	D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"""KIAA0140"""	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.1110G>T	10.37:g.126311970C>A	ENSP00000338532:p.Gln370His					FAM53B_uc001lhu.1_Intron	p.Q370H	NM_014661	NP_055476	Q14153	FA53B_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	5	1633	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	370					D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	ENST00000337318.3	37	c.1110G>T	CCDS7641.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.582923	0.46006	.	.	ENSG00000189319	ENST00000337318;ENST00000392754	.	.	.	5.18	3.12	0.35913	.	0.859689	0.10270	N	0.694877	T	0.37945	0.1022	L	0.29908	0.895	0.80722	D	1	P	0.36249	0.545	B	0.31337	0.128	T	0.28839	-1.0031	9	0.59425	D	0.04	-13.548	8.4363	0.32789	0.0:0.7981:0.0:0.2019	.	370	Q14153	FA53B_HUMAN	H	370	.	ENSP00000338532:Q370H	Q	-	3	2	FAM53B	126301960	1.000000	0.71417	0.993000	0.49108	0.918000	0.54935	1.147000	0.31602	1.312000	0.45043	0.655000	0.94253	CAG		PASS	0.726	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		8	12	8	12	---	---	---	---
OR51V1	283111	broad.mit.edu	37	11	5221861	5221861	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr11:5221861T>G	ENST00000321255.1	-	1	69	c.70A>C	c.(70-72)Act>Cct	p.T24P		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	24					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T24P(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAAATCCAGTGAGAAGAAAG	0.438																																						uc010qyz.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(70-72)ACT>CCT		olfactory receptor, family 51, subfamily V,							90.0	87.0	88.0					11																	5221861		2201	4298	6499	SO:0001583	missense	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221861T>G	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.70A>C	11.37:g.5221861T>G	ENSP00000321729:p.Thr24Pro						p.T24P	NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	70	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	24			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000321255.1	37	c.70A>C	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	T	13.89	2.372354	0.42003	.	.	ENSG00000176742	ENST00000321255	T	0.00330	8.08	5.16	4.01	0.46588	.	0.351451	0.20540	N	0.090322	T	0.00440	0.0014	M	0.93197	3.39	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.49532	-0.8930	10	0.87932	D	0	.	4.0281	0.09697	0.0:0.1594:0.1889:0.6517	.	24	Q9H2C8	O51V1_HUMAN	P	24	ENSP00000321729:T24P	ENSP00000321729:T24P	T	-	1	0	OR51V1	5178437	0.001000	0.12720	0.526000	0.27913	0.053000	0.15095	1.047000	0.30367	0.957000	0.37930	0.528000	0.53228	ACT		PASS	0.438	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		21	37	21	37	---	---	---	---
OR51B6	390058	broad.mit.edu	37	11	5373352	5373352	+	Silent	SNP	C	C	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr11:5373352C>G	ENST00000380219.1	+	1	615	c.615C>G	c.(613-615)gtC>gtG	p.V205V	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	205					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V205V(2)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGCAATGGTCTTGTTGGACT	0.443																																						uc010qzb.1																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)	ovary(1)|skin(1)	2						c.(613-615)GTC>GTG		olfactory receptor, family 51, subfamily B,							248.0	221.0	230.0					11																	5373352		2201	4297	6498	SO:0001819	synonymous_variant	390058				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5373352C>G		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.615C>G	11.37:g.5373352C>G						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.V205V	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	615	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	205			Helical; Name=5; (Potential).			Silent	SNP	ENST00000380219.1	37	c.615C>G	CCDS31379.1																																																																																				PASS	0.443	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		13	33	13	33	---	---	---	---
MYOD1	4654	broad.mit.edu	37	11	17741491	17741491	+	Silent	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr11:17741491C>A	ENST00000250003.3	+	1	377	c.162C>A	c.(160-162)ggC>ggA	p.G54G		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	54					cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to oxygen levels (GO:0071453)|cellular response to starvation (GO:0009267)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|myoblast fate determination (GO:0007518)|myotube cell development (GO:0014904)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|transcription from RNA polymerase II promoter (GO:0006366)	myofibril (GO:0030016)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription coactivator activity (GO:0003713)	p.G54G(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						TGCACGTGGGCGCGCTCCTGA	0.687																																						uc001mni.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)	3						c.(160-162)GGC>GGA		myogenic differentiation 1							30.0	32.0	31.0					11																	17741491		2200	4293	6493	SO:0001819	synonymous_variant	4654				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr11:17741491C>A	AF027148	CCDS7826.1	11p15	2013-05-21	2005-09-12			ENSG00000129152		"""Basic helix-loop-helix proteins"""	7611	protein-coding gene	gene with protein product	"""myoblast determination protein 1"""	159970	"""myogenic factor 3"""	MYF3			Standard	NM_002478		Approved	PUM, MYOD, bHLHc1	uc001mni.3	P15172		ENST00000250003.3:c.162C>A	11.37:g.17741491C>A							p.G54G	NM_002478	NP_002469	P15172	MYOD1_HUMAN			1	382	+			54					O75321	Silent	SNP	ENST00000250003.3	37	c.162C>A	CCDS7826.1																																																																																				PASS	0.687	MYOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389387.1	NM_002478		11	4	11	4	---	---	---	---
MRGPRX1	259249	broad.mit.edu	37	11	18955986	18955986	+	Missense_Mutation	SNP	C	C	G	rs145122494	byFrequency	TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr11:18955986C>G	ENST00000302797.3	-	1	570	c.346G>C	c.(346-348)Gtg>Ctg	p.V116L	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	116					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V116L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCGGTGCTCACGGCACTCAGA	0.567																																						uc001mpg.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|central_nervous_system(1)	3						c.(346-348)GTG>CTG		MAS-related GPR, member X1		C	LEU/VAL	1,4387		0,1,2193	99.0	94.0	96.0		346	-2.3	0.0	11	dbSNP_134	96	0,8572		0,0,4286	no	missense	MRGPRX1	NM_147199.3	32	0,1,6479	GG,GC,CC		0.0,0.0228,0.0077	benign	116/323	18955986	1,12959	2194	4286	6480	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18955986C>G		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.346G>C	11.37:g.18955986C>G	ENSP00000305766:p.Val116Leu						p.V116L	NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN			1	564	-			116			Helical; Name=3; (Potential).		Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.346G>C	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	11.10	1.540042	0.27563	2.28E-4	0.0	ENSG00000170255	ENST00000302797	T	0.70045	-0.45	2.28	-2.33	0.06724	GPCR, rhodopsin-like superfamily (1);	0.355474	0.27185	N	0.020526	T	0.34395	0.0896	N	0.04203	-0.255	0.19575	N	0.999969	B	0.06786	0.001	B	0.15870	0.014	T	0.11916	-1.0568	10	0.56958	D	0.05	.	3.1975	0.06637	0.1786:0.2492:0.0:0.5722	.	116	Q96LB2	MRGX1_HUMAN	L	116	ENSP00000305766:V116L	ENSP00000305766:V116L	V	-	1	0	MRGPRX1	18912562	0.005000	0.15991	0.001000	0.08648	0.088000	0.18126	0.122000	0.15687	-0.544000	0.06232	-0.573000	0.04149	GTG		PASS	0.567	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		25	31	25	31	---	---	---	---
OR4C11	219429	broad.mit.edu	37	11	55371721	55371721	+	Silent	SNP	A	A	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr11:55371721A>T	ENST00000302231.4	-	1	153	c.129T>A	c.(127-129)atT>atA	p.I43I		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I43I(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TGGTCACAATAATGAGCATAT	0.403																																						uc010rii.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(127-129)ATT>ATA		olfactory receptor, family 4, subfamily C,							76.0	72.0	73.0					11																	55371721		2179	4004	6183	SO:0001819	synonymous_variant	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371721A>T	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.129T>A	11.37:g.55371721A>T							p.I43I	NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN			1	129	-			43			Helical; Name=1; (Potential).		B9EIL4|Q8NGL8	Silent	SNP	ENST00000302231.4	37	c.129T>A	CCDS31503.1																																																																																				PASS	0.403	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		27	30	27	30	---	---	---	---
OR5M9	390162	broad.mit.edu	37	11	56230073	56230073	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr11:56230073C>A	ENST00000279791.1	-	1	804	c.805G>T	c.(805-807)Ggc>Tgc	p.G269C		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G269C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ACCATTTTGCCCTGCTCTACG	0.458																																						uc010rjj.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(805-807)GGC>TGC		olfactory receptor, family 5, subfamily M,							90.0	78.0	82.0					11																	56230073		2201	4296	6497	SO:0001583	missense	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230073C>A	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.805G>T	11.37:g.56230073C>A	ENSP00000279791:p.Gly269Cys						p.G269C	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN			1	805	-	Esophageal squamous(21;0.00448)		269			Extracellular (Potential).		Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	c.805G>T	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	C	9.972	1.225827	0.22542	.	.	ENSG00000150269	ENST00000279791	T	0.00137	8.68	4.29	3.38	0.38709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000539	T	0.00468	0.0015	M	0.88377	2.95	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.30880	-0.9963	10	0.87932	D	0	-12.3999	6.9	0.24277	0.0:0.7845:0.0:0.2155	.	269	Q8NGP3	OR5M9_HUMAN	C	269	ENSP00000279791:G269C	ENSP00000279791:G269C	G	-	1	0	OR5M9	55986649	0.000000	0.05858	0.609000	0.28983	0.187000	0.23431	0.110000	0.15437	0.928000	0.37168	0.542000	0.68232	GGC		PASS	0.458	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		19	19	19	19	---	---	---	---
NXF1	10482	broad.mit.edu	37	11	62569222	62569222	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr11:62569222C>T	ENST00000532297.1	-	7	1257	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	NXF1_ENST00000531131.1_Missense_Mutation_p.E73K|NXF1_ENST00000531709.2_Missense_Mutation_p.E210K|NXF1_ENST00000294172.2_Missense_Mutation_p.E210K|NXF1_ENST00000439713.2_Missense_Mutation_p.E210K			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	210					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E210K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTTAGCTGTTCTACTTGTTCT	0.473																																						uc001nvf.1																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(628-630)GAA>AAA		nuclear RNA export factor 1 isoform 1							207.0	205.0	206.0					11																	62569222		2201	4299	6500	SO:0001583	missense	10482				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	g.chr11:62569222C>T	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.628G>A	11.37:g.62569222C>T	ENSP00000436679:p.Glu210Lys					NXF1_uc001nvg.1_Missense_Mutation_p.E210K|NXF1_uc009yog.1_Missense_Mutation_p.E253K|NXF1_uc010rmh.1_Missense_Mutation_p.E73K	p.E210K	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN			6	764	-			210			Interaction with THOC4.		B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	37	c.628G>A	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177406	0.78564	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875;ENST00000439713	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.71660	0.3366	M	0.83953	2.67	0.80722	D	1	D;P;D;D	0.62365	0.986;0.95;0.991;0.986	D;P;P;P	0.64776	0.929;0.51;0.75;0.58	T	0.71902	-0.4452	10	0.34782	T	0.22	-33.2015	14.5215	0.67853	0.0:1.0:0.0:0.0	.	73;253;223;210	B4E227;E9PIN3;Q59E96;Q9UBU9	.;.;.;NXF1_HUMAN	K	210;210;253;210	ENSP00000294172:E210K;ENSP00000436679:E210K;ENSP00000435742:E253K;ENSP00000408864:E210K	ENSP00000294172:E210K	E	-	1	0	NXF1	62325798	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.027000	0.64109	2.503000	0.84419	0.561000	0.74099	GAA		PASS	0.473	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362		101	58	101	58	---	---	---	---
SLCO2B1	11309	broad.mit.edu	37	11	74883491	74883491	+	Silent	SNP	T	T	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr11:74883491T>A	ENST00000289575.5	+	7	1244	c.849T>A	c.(847-849)gcT>gcA	p.A283A	SLCO2B1_ENST00000532236.1_Silent_p.A167A|SLCO2B1_ENST00000428359.2_Silent_p.A261A|SLCO2B1_ENST00000531756.1_Silent_p.A28A|SLCO2B1_ENST00000526660.1_3'UTR|SLCO2B1_ENST00000454962.2_Silent_p.A56A|SLCO2B1_ENST00000341411.4_Silent_p.A56A|SLCO2B1_ENST00000525650.1_Silent_p.A139A	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	283					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.A283A(1)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	TCCTCATCGCTGCCGGTGCAG	0.562																																						uc001owb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(847-849)GCT>GCA		solute carrier organic anion transporter family,	Ergoloid mesylate(DB01049)						88.0	77.0	81.0					11																	74883491		2200	4293	6493	SO:0001819	synonymous_variant	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74883491T>A	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.849T>A	11.37:g.74883491T>A						SLCO2B1_uc010rrq.1_Silent_p.A28A|SLCO2B1_uc010rrr.1_Silent_p.A139A|SLCO2B1_uc010rrs.1_Silent_p.A167A|SLCO2B1_uc001owc.2_Silent_p.A56A|SLCO2B1_uc001owd.2_Silent_p.A261A	p.A283A	NM_007256	NP_009187	O94956	SO2B1_HUMAN			7	1236	+			283			Helical; Name=6; (Potential).		A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Silent	SNP	ENST00000289575.5	37	c.849T>A	CCDS8235.1																																																																																				PASS	0.562	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		25	25	25	25	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92495111	92495111	+	Silent	SNP	G	G	A	rs373586130		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr11:92495111G>A	ENST00000298047.6	+	4	3776	c.3759G>A	c.(3757-3759)caG>caA	p.Q1253Q	RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000525166.1_Silent_p.Q1103Q|FAT3_ENST00000409404.2_Silent_p.Q1253Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1253	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q1253H(2)|p.Q1253Q(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACAAGCCCCAGTTCCCAGAGA	0.483										TCGA Ovarian(4;0.039)																												uc001pdj.3																			4	Substitution - Missense(2)|Substitution - coding silent(2)		ovary(2)|lung(2)	ovary(4)|pancreas(1)	5						c.(3757-3759)CAG>CAA		FAT tumor suppressor homolog 3							179.0	175.0	176.0					11																	92495111		1912	4119	6031	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92495111G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3759G>A	11.37:g.92495111G>A		TCGA Ovarian(4;0.039)					p.Q1253Q	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			4	3776	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1253			Cadherin 11.|Extracellular (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.3759G>A																																																																																					PASS	0.483	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		109	91	109	91	---	---	---	---
CD3D	915	broad.mit.edu	37	11	118211200	118211200	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr11:118211200A>T	ENST00000300692.4	-	2	300	c.164T>A	c.(163-165)aTt>aAt	p.I55N	CD3D_ENST00000392884.2_Missense_Mutation_p.I55N|CD3D_ENST00000529594.1_Intron	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	55					cell surface receptor signaling pathway (GO:0007166)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive thymic T cell selection (GO:0045059)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.I55N(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	CAGTCTTGTAATGTCTGAGAG	0.448																																						uc001pss.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(163-165)ATT>AAT		CD3 antigen, delta subunit isoform A precursor							226.0	167.0	187.0					11																	118211200		2200	4296	6496	SO:0001583	missense	915				positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway	cytoplasm|integral to membrane	protein heterodimerization activity	g.chr11:118211200A>T	X01451	CCDS8394.1, CCDS41724.1	11q23	2014-09-17	2006-03-28		ENSG00000167286	ENSG00000167286		"""CD molecules"""	1673	protein-coding gene	gene with protein product		186790	"""CD3d antigen, delta polypeptide (TiT3 complex)"""	T3D			Standard	NM_000732		Approved		uc001pss.1	P04234	OTTHUMG00000166970	ENST00000300692.4:c.164T>A	11.37:g.118211200A>T	ENSP00000300692:p.Ile55Asn					CD3D_uc001pst.1_Missense_Mutation_p.I55N	p.I55N	NM_000732	NP_000723	P04234	CD3D_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	2	301	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	55			Extracellular (Potential).		A8MVP6	Missense_Mutation	SNP	ENST00000300692.4	37	c.164T>A	CCDS8394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.613|0.613	-0.824218|-0.824218	0.02755|0.02755	.|.	.|.	ENSG00000167286|ENSG00000167286	ENST00000534687|ENST00000300692;ENST00000392884	.|T;T	.|0.61742	.|0.08;1.11	5.36|5.36	0.437|0.437	0.16555|0.16555	.|Immunoglobulin-like fold (1);	.|1.033810	.|0.07623	.|N	.|0.927398	T|T	0.13586|0.13586	0.0329|0.0329	N|N	0.00077|0.00077	-2.24|-2.24	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.20874|0.20874	-1.0262|-1.0262	5|10	.|0.11182	.|T	.|0.66	-0.0435|-0.0435	1.0405|1.0405	0.01558|0.01558	0.1536:0.1674:0.1572:0.5218|0.1536:0.1674:0.1572:0.5218	.|.	.|55;55	.|A8MVP6;P04234	.|.;CD3D_HUMAN	Q|N	59|55	.|ENSP00000300692:I55N;ENSP00000376622:I55N	.|ENSP00000300692:I55N	H|I	-|-	3|2	2|0	CD3D|CD3D	117716410|117716410	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.156000|-0.156000	0.10100|0.10100	-0.080000|-0.080000	0.12685|0.12685	-0.390000|-0.390000	0.06520|0.06520	CAT|ATT		PASS	0.448	CD3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392128.1	NM_000732		13	25	13	25	---	---	---	---
OR8B2	26595	broad.mit.edu	37	11	124252427	124252427	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr11:124252427T>G	ENST00000375013.2	-	1	831	c.813A>C	c.(811-813)aaA>aaC	p.K271N		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K271N(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CAGAAGAAACTTTTCCCTGCT	0.418																																						uc010sai.1																			1	Substitution - Missense(1)		lung(1)		0						c.(811-813)AAA>AAC		olfactory receptor, family 8, subfamily B,							56.0	60.0	58.0					11																	124252427		2201	4297	6498	SO:0001583	missense	26595				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124252427T>G	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.813A>C	11.37:g.124252427T>G	ENSP00000364152:p.Lys271Asn						p.K271N	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	813	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	271			Helical; Name=7; (Potential).		Q8NGH2	Missense_Mutation	SNP	ENST00000375013.2	37	c.813A>C	CCDS31708.1	.	.	.	.	.	.	.	.	.	.	t	16.63	3.177401	0.57692	.	.	ENSG00000204293	ENST00000375013	T	0.00207	8.55	3.81	3.81	0.43845	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000006	T	0.00666	0.0022	M	0.91920	3.255	0.09310	N	0.999995	D	0.89917	1.0	D	0.87578	0.998	T	0.23048	-1.0199	10	0.59425	D	0.04	.	10.9089	0.47097	0.0:0.0:0.0:1.0	.	271	Q96RD0	OR8B2_HUMAN	N	271	ENSP00000364152:K271N	ENSP00000364152:K271N	K	-	3	2	OR8B2	123757637	0.000000	0.05858	0.071000	0.20095	0.643000	0.38383	0.038000	0.13862	1.727000	0.51537	0.414000	0.27820	AAA		PASS	0.418	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		13	73	13	73	---	---	---	---
OR8B2	26595	broad.mit.edu	37	11	124252924	124252924	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr11:124252924A>G	ENST00000375013.2	-	1	334	c.316T>C	c.(316-318)Ttt>Ctt	p.F106L		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F106L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ATGACGAAAAAGAGAAAGAAA	0.388																																						uc010sai.1																			1	Substitution - Missense(1)		lung(1)		0						c.(316-318)TTT>CTT		olfactory receptor, family 8, subfamily B,							89.0	90.0	90.0					11																	124252924		2201	4299	6500	SO:0001583	missense	26595				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124252924A>G	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.316T>C	11.37:g.124252924A>G	ENSP00000364152:p.Phe106Leu						p.F106L	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	316	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	106			Helical; Name=3; (Potential).		Q8NGH2	Missense_Mutation	SNP	ENST00000375013.2	37	c.316T>C	CCDS31708.1	.	.	.	.	.	.	.	.	.	.	a	15.34	2.805444	0.50315	.	.	ENSG00000204293	ENST00000375013	T	0.00408	7.54	4.2	3.05	0.35203	GPCR, rhodopsin-like superfamily (1);	0.103731	0.43579	D	0.000558	T	0.00440	0.0014	N	0.20530	0.585	0.09310	N	1	D	0.58268	0.982	D	0.67548	0.952	T	0.57957	-0.7721	10	0.51188	T	0.08	.	5.8165	0.18495	0.6583:0.1742:0.0:0.1675	.	106	Q96RD0	OR8B2_HUMAN	L	106	ENSP00000364152:F106L	ENSP00000364152:F106L	F	-	1	0	OR8B2	123758134	0.000000	0.05858	0.162000	0.22713	0.835000	0.47333	-0.061000	0.11693	0.759000	0.33084	0.329000	0.21502	TTT		PASS	0.388	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		61	48	61	48	---	---	---	---
SLCO1B7	338821	broad.mit.edu	37	12	21175876	21175876	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr12:21175876G>T	ENST00000421593.2	+	4	433	c.433G>T	c.(433-435)Ggg>Tgg	p.G145W	LST3_ENST00000381541.3_Missense_Mutation_p.G192W|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.G192W|SLCO1B3_ENST00000553473.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.G145W(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AGTACCATTGGGGATTTCTTA	0.383																																						uc010sin.1																			1	Substitution - Missense(1)		lung(1)		0						c.(433-435)GGG>TGG		liver-specific organic anion transporter 3TM12							123.0	122.0	122.0					12																	21175876		2203	4300	6503	SO:0001583	missense	338821					membrane	transporter activity	g.chr12:21175876G>T	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.433G>T	12.37:g.21175876G>T	ENSP00000394168:p.Gly145Trp					SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Missense_Mutation_p.G192W	p.G145W	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN			4	433	+			145					Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	c.433G>T	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	13.07	2.126549	0.37533	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	T;T;T	0.65178	-0.14;-0.14;-0.14	2.54	2.54	0.30619	.	0.000000	0.85682	D	0.000000	D	0.83963	0.5368	H	0.96333	3.805	0.53688	D	0.99997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88791	0.3278	10	0.87932	D	0	.	13.0341	0.58860	0.0:0.0:1.0:0.0	.	145;192	G3V0H7;F5H094	.;.	W	192;192;145	ENSP00000370952:G192W;ENSP00000452013:G192W;ENSP00000394168:G145W	ENSP00000370952:G192W	G	+	1	0	SLCO1B7;RP11-545J16.1	21067143	1.000000	0.71417	0.920000	0.36463	0.238000	0.25445	8.897000	0.92532	1.402000	0.46780	0.195000	0.17529	GGG		PASS	0.383	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		10	21	10	21	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43858395	43858395	+	Splice_Site	SNP	A	A	G	rs541906590		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr12:43858395A>G	ENST00000389420.3	-	10	1507	c.1508T>C	c.(1507-1509)aTa>aCa	p.I503T	ADAMTS20_ENST00000553158.1_Splice_Site_p.I503T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	503	Disintegrin.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.I503T(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTTTCTTACTATATGGGGACA	0.338																																						uc010skx.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(1507-1509)ATA>ACA		a disintegrin-like and metalloprotease with							88.0	88.0	88.0					12																	43858395		2203	4300	6503	SO:0001630	splice_region_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43858395A>G	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1509+1T>C	12.37:g.43858395A>G							p.I503T	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	10	1508	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	503			Disintegrin.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.1508T>C	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	A	7.574	0.667406	0.14710	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.05925	3.37;3.37	4.55	3.4	0.38934	.	0.428092	0.17241	N	0.181542	T	0.02848	0.0085	N	0.01729	-0.75	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47724	-0.9095	10	0.45353	T	0.12	.	10.6575	0.45684	0.9219:0.0:0.078:0.0	.	503	P59510	ATS20_HUMAN	T	503	ENSP00000374071:I503T;ENSP00000448341:I503T	ENSP00000374068:I503T	I	-	2	0	ADAMTS20	42144662	1.000000	0.71417	0.706000	0.30403	0.014000	0.08584	7.086000	0.76885	0.835000	0.34877	-0.376000	0.06991	ATA		PASS	0.338	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	Missense_Mutation	16	37	16	37	---	---	---	---
ERBB3	2065	broad.mit.edu	37	12	56495001	56495001	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr12:56495001A>G	ENST00000267101.3	+	27	3798	c.3358A>G	c.(3358-3360)Agg>Ggg	p.R1120G	ERBB3_ENST00000450146.2_Missense_Mutation_p.R477G|RP11-603J24.9_ENST00000548861.1_5'Flank|ERBB3_ENST00000553131.1_Missense_Mutation_p.R361G|ERBB3_ENST00000415288.2_Missense_Mutation_p.R1061G|ERBB3_ENST00000549832.1_Missense_Mutation_p.R240G	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1120					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.R1120G(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GAGCCGGAGCAGGAGCCGGAG	0.612																																						uc001sjh.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8						c.(3358-3360)AGG>GGG		erbB-3 isoform 1 precursor							57.0	54.0	55.0					12																	56495001		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56495001A>G	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3358A>G	12.37:g.56495001A>G	ENSP00000267101:p.Arg1120Gly					ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Missense_Mutation_p.R477G|ERBB3_uc010sqc.1_Missense_Mutation_p.R1061G|ERBB3_uc009zok.2_Missense_Mutation_p.R385G|ERBB3_uc001sjk.2_Missense_Mutation_p.R361G|ERBB3_uc001sjl.2_Missense_Mutation_p.R240G	p.R1120G	NM_001982	NP_001973	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		27	3551	+			1120			Cytoplasmic (Potential).		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.3358A>G	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.609804	0.46527	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.80480	-1.16;-1.14;-1.15;-1.38;-1.17	5.87	4.98	0.66077	.	0.724599	0.12818	N	0.436641	T	0.72455	0.3462	N	0.24115	0.695	0.49915	D	0.999836	B;B;B	0.26258	0.145;0.09;0.011	B;B;B	0.29942	0.109;0.051;0.014	T	0.67043	-0.5770	10	0.44086	T	0.13	.	13.737	0.62824	0.1608:0.8392:0.0:0.0	.	1061;240;1120	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	G	1120;477;1061;243;361;240	ENSP00000267101:R1120G;ENSP00000399178:R477G;ENSP00000408340:R1061G;ENSP00000449129:R361G;ENSP00000448729:R240G	ENSP00000267101:R1120G	R	+	1	2	ERBB3	54781268	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.826000	0.48104	1.600000	0.50102	-0.213000	0.12676	AGG		PASS	0.612	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			13	17	13	17	---	---	---	---
ARHGEF25	115557	broad.mit.edu	37	12	58006770	58006770	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr12:58006770T>G	ENST00000286494.4	+	2	615	c.155T>G	c.(154-156)cTg>cGg	p.L52R	AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000593846.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.L91R|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000610219.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	52						cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L52R(1)|p.L91R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						GCCTCCGGTCTGGCTGCCCCc	0.617																																						uc001spb.2																			2	Substitution - Missense(2)		lung(2)		0						c.(154-156)CTG>CGG		RhoA/RAC/CDC42 exchange factor isoform 1							56.0	64.0	62.0					12																	58006770		2203	4300	6503	SO:0001583	missense	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58006770T>G		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.155T>G	12.37:g.58006770T>G	ENSP00000286494:p.Leu52Arg					GEFT_uc009zpy.2_Missense_Mutation_p.L91R|GEFT_uc001soz.1_Intron|GEFT_uc001spa.2_Intron|uc001spc.2_RNA|GEFT_uc001spd.2_5'Flank	p.L52R	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN			2	615	+	Melanoma(17;0.122)		52					A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	ENST00000286494.4	37	c.155T>G	CCDS8947.1	.	.	.	.	.	.	.	.	.	.	t	13.65	2.299363	0.40694	.	.	ENSG00000240771	ENST00000333972;ENST00000286494	T;T	0.71222	-0.55;-0.55	3.37	2.21	0.28008	.	0.000000	0.27052	N	0.021165	T	0.71995	0.3406	L	0.36672	1.1	0.31557	N	0.657978	D;P	0.69078	0.997;0.845	D;B	0.78314	0.991;0.278	T	0.71048	-0.4705	10	0.72032	D	0.01	.	5.2546	0.15540	0.0:0.1372:0.0:0.8628	.	91;52	F8W7Z4;Q86VW2	.;ARHGP_HUMAN	R	91;52	ENSP00000335560:L91R;ENSP00000286494:L52R	ENSP00000286494:L52R	L	+	2	0	ARHGEF25	56293037	1.000000	0.71417	0.997000	0.53966	0.928000	0.56348	3.339000	0.52135	0.509000	0.28195	0.368000	0.22195	CTG		PASS	0.617	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		14	44	14	44	---	---	---	---
DYRK2	8445	broad.mit.edu	37	12	68051334	68051334	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr12:68051334A>T	ENST00000344096.3	+	3	1060	c.647A>T	c.(646-648)gAt>gTt	p.D216V	DYRK2_ENST00000393555.3_Missense_Mutation_p.D143V|RP11-335O4.3_ENST00000425371.2_RNA	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	216					cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)	p.D216V(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		GTGCCCCACGATCACGTGGCT	0.552																																						uc001str.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(646-648)GAT>GTT		dual-specificity tyrosine-(Y)-phosphorylation							72.0	57.0	62.0					12																	68051334		2203	4300	6503	SO:0001583	missense	8445				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:68051334A>T	Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.647A>T	12.37:g.68051334A>T	ENSP00000342105:p.Asp216Val					DYRK2_uc001sts.3_Missense_Mutation_p.D143V	p.D216V	NM_006482	NP_006473	Q92630	DYRK2_HUMAN	Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)	3	1049	+			216					B2R9V9|Q9BRB5	Missense_Mutation	SNP	ENST00000344096.3	37	c.647A>T	CCDS8978.1	.	.	.	.	.	.	.	.	.	.	A	12.61	1.990463	0.35131	.	.	ENSG00000127334	ENST00000543747;ENST00000344096;ENST00000393555	T;T;T	0.69175	-0.38;2.14;2.14	5.06	5.06	0.68205	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77671	0.4165	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77172	-0.2685	9	.	.	.	.	15.1106	0.72351	1.0:0.0:0.0:0.0	.	216	Q92630	DYRK2_HUMAN	V	143;216;143	ENSP00000440839:D143V;ENSP00000342105:D216V;ENSP00000377186:D143V	.	D	+	2	0	DYRK2	66337601	1.000000	0.71417	0.992000	0.48379	0.098000	0.18820	9.339000	0.96797	2.037000	0.60232	0.260000	0.18958	GAT		PASS	0.552	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1			4	25	4	25	---	---	---	---
MGAT4C	25834	broad.mit.edu	37	12	86374058	86374058	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr12:86374058C>T	ENST00000604798.1	-	8	1650	c.446G>A	c.(445-447)cGt>cAt	p.R149H	MGAT4C_ENST00000332156.1_Missense_Mutation_p.R149H|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R149H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R149H|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R149H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R178H			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	149					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.R149H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CATGGCATCACGCCAGGAAGA	0.398																																						uc001tai.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(445-447)CGT>CAT		alpha-1,3-mannosyl-glycoprotein							83.0	81.0	82.0					12																	86374058		2203	4300	6503	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86374058C>T		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.446G>A	12.37:g.86374058C>T	ENSP00000474896:p.Arg149His					MGAT4C_uc001tal.3_Missense_Mutation_p.R149H|MGAT4C_uc001taj.3_Missense_Mutation_p.R149H|MGAT4C_uc001tak.3_Missense_Mutation_p.R149H|MGAT4C_uc010sum.1_Missense_Mutation_p.R173H|MGAT4C_uc001tah.3_Missense_Mutation_p.R149H	p.R149H	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN			8	1696	-			149			Lumenal (Potential).		B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.446G>A	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111685	0.37242	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	5.58	2.62	0.31277	.	0.169518	0.52532	D	0.000061	D	0.82568	0.5065	L	0.38175	1.15	0.40016	D	0.975341	D;D	0.57571	0.98;0.965	P;P	0.52109	0.69;0.69	T	0.78196	-0.2298	10	0.14252	T	0.57	-17.5819	14.8367	0.70190	0.3749:0.6251:0.0:0.0	.	178;149	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	H	149;178;149;149;149;149;149	ENSP00000331664:R149H;ENSP00000376900:R178H;ENSP00000449022:R149H;ENSP00000446647:R149H;ENSP00000447253:R149H;ENSP00000449172:R149H	ENSP00000331664:R149H	R	-	2	0	MGAT4C	84898189	1.000000	0.71417	0.998000	0.56505	0.018000	0.09664	6.064000	0.71169	0.683000	0.31428	-0.169000	0.13324	CGT		PASS	0.398	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		5	34	5	34	---	---	---	---
IKBIP	121457	broad.mit.edu	37	12	99007962	99007962	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr12:99007962G>C	ENST00000342502.2	-	3	865	c.454C>G	c.(454-456)Caa>Gaa	p.Q152E	IKBIP_ENST00000393042.3_3'UTR|IKBIP_ENST00000420861.1_Missense_Mutation_p.Q46E	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	152					response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.Q152E(1)		NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						GTAATGTCTTGAGAAAGCGTC	0.363																																						uc001tfv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(454-456)CAA>GAA		IKK interacting protein isoform 2							125.0	113.0	117.0					12																	99007962		2202	4300	6502	SO:0001583	missense	121457				induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr12:99007962G>C	AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.454C>G	12.37:g.99007962G>C	ENSP00000343471:p.Gln152Glu					IKBIP_uc001tfw.2_3'UTR	p.Q152E	NM_201612	NP_963906	Q70UQ0	IKIP_HUMAN			3	564	-			152					Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	ENST00000342502.2	37	c.454C>G	CCDS9067.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.877463	0.00537	.	.	ENSG00000166130	ENST00000342502;ENST00000420861	T;T	0.40756	1.06;1.02	5.76	2.84	0.33178	.	.	.	.	.	T	0.28928	0.0718	L	0.28274	0.84	0.23126	N	0.998257	B	0.02656	0.0	B	0.04013	0.001	T	0.21143	-1.0254	9	0.02654	T	1	.	17.1723	0.86833	0.0:0.51:0.49:0.0	.	152	Q70UQ0	IKIP_HUMAN	E	152;46	ENSP00000343471:Q152E;ENSP00000398023:Q46E	ENSP00000343471:Q152E	Q	-	1	0	IKBIP	97532093	1.000000	0.71417	0.956000	0.39512	0.221000	0.24807	0.744000	0.26245	0.316000	0.23135	0.655000	0.94253	CAA		PASS	0.363	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687		6	54	6	54	---	---	---	---
SCYL2	55681	broad.mit.edu	37	12	100709335	100709335	+	Splice_Site	SNP	G	G	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr12:100709335G>T	ENST00000360820.2	+	9	1532		c.e9-1			NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)						endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)	p.?(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TTGCCTTTCAGCGTGTCATTG	0.318																																						uc001thn.2																			1	Unknown(1)		lung(1)	lung(3)|ovary(2)|skin(1)	6						c.e9-1		SCY1-like 2 protein							80.0	76.0	77.0					12																	100709335		2203	4300	6503	SO:0001630	splice_region_variant	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100709335G>T	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.1096-1G>T	12.37:g.100709335G>T						SCYL2_uc009ztw.1_Splice_Site_p.R193_splice|SCYL2_uc001thm.1_Splice_Site_p.R366_splice	p.R366_splice	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN			9	1146	+								A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Splice_Site	SNP	ENST00000360820.2	37	c.1096_splice	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782518	0.70222	.	.	ENSG00000136021	ENST00000549687;ENST00000258506;ENST00000360820	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8167	0.96571	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SCYL2	99233466	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.762000	0.94881	0.591000	0.81541	.		PASS	0.318	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988	Intron	12	22	12	22	---	---	---	---
NR1H4	9971	broad.mit.edu	37	12	100897258	100897258	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr12:100897258T>A	ENST00000551379.1	+	1	121	c.93T>A	c.(91-93)agT>agA	p.S31R	NR1H4_ENST00000546380.1_Intron|NR1H4_ENST00000392986.3_Intron|NR1H4_ENST00000548884.1_Intron|NR1H4_ENST00000188403.7_Missense_Mutation_p.S31R|NR1H4_ENST00000549996.1_Intron			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	31					bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.S31R(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	AAATGATGAGTATGAAGCCCG	0.463																																						uc001tht.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(91-93)AGT>AGA		nuclear receptor subfamily 1, group H, member 4							39.0	36.0	37.0					12																	100897258		876	1991	2867	SO:0001583	missense	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100897258T>A	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.93T>A	12.37:g.100897258T>A	ENSP00000447149:p.Ser31Arg					NR1H4_uc001thp.1_Intron|NR1H4_uc001thq.1_Intron|NR1H4_uc010svj.1_Intron|NR1H4_uc001thr.1_Intron|NR1H4_uc010svk.1_Intron|NR1H4_uc001ths.1_Missense_Mutation_p.S31R	p.S31R	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN			1	121	+			31					A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	ENST00000551379.1	37	c.93T>A	CCDS55876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.775|9.775	1.173730|1.173730	0.21704|0.21704	.|.	.|.	ENSG00000012504|ENSG00000012504	ENST00000551379;ENST00000188403|ENST00000551184	D;D|.	0.92858|.	-3.12;-3.07|.	5.75|5.75	-3.11|-3.11	0.05299|0.05299	.|.	0.726706|.	0.15487|.	N|.	0.259744|.	T|T	0.20047|0.20047	0.0482|0.0482	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	0.999999|0.999999	B;B|.	0.20459|.	0.026;0.045|.	B;B|.	0.21151|.	0.015;0.033|.	T|T	0.33059|0.33059	-0.9883|-0.9883	10|5	0.59425|.	D|.	0.04|.	.|.	6.168|6.168	0.20400|0.20400	0.1624:0.4759:0.0:0.3618|0.1624:0.4759:0.0:0.3618	.|.	31;31|.	Q96RI1;Q96RI1-4|.	NR1H4_HUMAN;.|.	R|N	31|10	ENSP00000447149:S31R;ENSP00000188403:S31R|.	ENSP00000188403:S31R|.	S|Y	+|+	3|1	2|0	NR1H4|NR1H4	99421389|99421389	0.001000|0.001000	0.12720|0.12720	0.024000|0.024000	0.17045|0.17045	0.001000|0.001000	0.01503|0.01503	-0.346000|-0.346000	0.07760|0.07760	-0.167000|-0.167000	0.10871|0.10871	-0.256000|-0.256000	0.11100|0.11100	AGT|TAT		PASS	0.463	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		4	23	4	23	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104133214	104133214	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr12:104133214A>G	ENST00000388887.2	+	54	5926	c.5722A>G	c.(5722-5724)Act>Gct	p.T1908A		NM_017564.9	NP_060034.9			stabilin 2									p.T1908A(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTGTGTCAATACTCCCAGCTG	0.418																																						uc001tjw.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(5)	14						c.(5722-5724)ACT>GCT		stabilin 2 precursor							124.0	117.0	120.0					12																	104133214		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104133214A>G	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5722A>G	12.37:g.104133214A>G	ENSP00000373539:p.Thr1908Ala					STAB2_uc009zug.2_RNA	p.T1908A	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			54	5908	+			1908			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000388887.2	37	c.5722A>G	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	A	6.882	0.532203	0.13127	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.89123	-2.47	5.45	3.03	0.35002	.	0.712877	0.13229	N	0.403776	D	0.82688	0.5091	L	0.59436	1.845	0.09310	N	1	B	0.21905	0.062	B	0.19148	0.024	T	0.64816	-0.6318	10	0.09590	T	0.72	.	5.5896	0.17293	0.6589:0.1397:0.2014:0.0	.	1908	Q8WWQ8	STAB2_HUMAN	A	1908;595	ENSP00000373539:T1908A	ENSP00000258495:T595A	T	+	1	0	STAB2	102657344	0.001000	0.12720	0.041000	0.18516	0.431000	0.31685	1.064000	0.30579	0.878000	0.35920	0.533000	0.62120	ACT		PASS	0.418	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			4	34	4	34	---	---	---	---
NAA25	80018	broad.mit.edu	37	12	112481660	112481660	+	Silent	SNP	T	T	C			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr12:112481660T>C	ENST00000261745.4	-	18	2267	c.2019A>G	c.(2017-2019)gaA>gaG	p.E673E		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	673						cytoplasm (GO:0005737)		p.E673E(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TCTTATGTTCTTCAGAAACGT	0.363																																						uc001ttm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(2017-2019)GAA>GAG		mitochondrial distribution and morphology 20							67.0	71.0	69.0					12																	112481660		2203	4300	6503	SO:0001819	synonymous_variant	80018					cytoplasm	protein binding	g.chr12:112481660T>C	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.2019A>G	12.37:g.112481660T>C						NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Silent_p.E645E|NAA25_uc009zwa.1_Silent_p.E673E	p.E673E	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN			18	2039	-			673					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Silent	SNP	ENST00000261745.4	37	c.2019A>G	CCDS9159.1																																																																																				PASS	0.363	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		8	49	8	49	---	---	---	---
GPR12	2835	broad.mit.edu	37	13	27333507	27333507	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr13:27333507G>A	ENST00000381436.2	-	1	920	c.458C>T	c.(457-459)aCg>aTg	p.T153M	GPR12_ENST00000405846.3_Missense_Mutation_p.T153M			P47775	GPR12_HUMAN	G protein-coupled receptor 12	153					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)	p.T153M(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		AAACGTGACCGTCCTCTCCGA	0.577																																						uc010aal.2																			1	Substitution - Missense(1)		lung(1)		0						c.(457-459)ACG>ATG		G protein-coupled receptor 12							93.0	75.0	81.0					13																	27333507		2203	4300	6503	SO:0001583	missense	2835					integral to plasma membrane		g.chr13:27333507G>A	U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.458C>T	13.37:g.27333507G>A	ENSP00000370844:p.Thr153Met					GPR12_uc010tdl.1_Translation_Start_Site	p.T153M	NM_005288	NP_005279	P47775	GPR12_HUMAN		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)	2	680	-	Colorectal(5;5.77e-05)	Breast(139;0.198)	153			Cytoplasmic (Potential).		Q5T8P3	Missense_Mutation	SNP	ENST00000381436.2	37	c.458C>T	CCDS9319.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520762	0.85495	.	.	ENSG00000132975	ENST00000405846;ENST00000381436	T;T	0.45668	0.89;0.89	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.75635	0.3876	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.83168	-0.0095	10	0.87932	D	0	.	19.0843	0.93196	0.0:0.0:1.0:0.0	.	153	P47775	GPR12_HUMAN	M	153	ENSP00000384932:T153M;ENSP00000370844:T153M	ENSP00000370844:T153M	T	-	2	0	GPR12	26231507	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	9.696000	0.98695	2.532000	0.85374	0.561000	0.74099	ACG		PASS	0.577	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2			8	52	8	52	---	---	---	---
NUFIP1	26747	broad.mit.edu	37	13	45517626	45517626	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr13:45517626T>A	ENST00000379161.4	-	9	1368	c.1322A>T	c.(1321-1323)tAt>tTt	p.Y441F		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	441					box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)	p.Y441F(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		TAACGTTTGATAGTTGTGATA	0.323																																						uc001uzp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1321-1323)TAT>TTT		nuclear fragile X mental retardation protein							135.0	137.0	137.0					13																	45517626		2203	4300	6503	SO:0001583	missense	26747				box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding	g.chr13:45517626T>A	AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.1322A>T	13.37:g.45517626T>A	ENSP00000368459:p.Tyr441Phe						p.Y441F	NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)	9	1364	-		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	441					Q8WVM5|Q96SG1	Missense_Mutation	SNP	ENST00000379161.4	37	c.1322A>T	CCDS9393.1	.	.	.	.	.	.	.	.	.	.	T	5.257	0.232914	0.09969	.	.	ENSG00000083635	ENST00000379161	T	0.45668	0.89	5.97	-2.54	0.06307	.	0.675664	0.15702	N	0.248873	T	0.28034	0.0691	M	0.63428	1.95	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30794	-0.9966	10	0.10902	T	0.67	.	3.2685	0.06873	0.4215:0.2463:0.0:0.3323	.	441	Q9UHK0	NUFP1_HUMAN	F	441	ENSP00000368459:Y441F	ENSP00000368459:Y441F	Y	-	2	0	NUFIP1	44415626	0.000000	0.05858	0.001000	0.08648	0.636000	0.38137	-0.219000	0.09228	-0.367000	0.08052	0.439000	0.28862	TAT		PASS	0.323	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044755.2	NM_012345		29	33	29	33	---	---	---	---
EDNRB	1910	broad.mit.edu	37	13	78492558	78492558	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr13:78492558T>C	ENST00000334286.5	-	1	387	c.151A>G	c.(151-153)Aag>Gag	p.K51E	RNF219-AS1_ENST00000607862.1_RNA|EDNRB_ENST00000446573.1_Missense_Mutation_p.K51E|EDNRB_ENST00000475537.1_5'UTR|EDNRB_ENST00000377211.4_Missense_Mutation_p.K141E	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	51					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)	p.K51E(1)|p.K141E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	CATAAGGTCTTAGTGGGTGGC	0.632																																						uc001vko.2																			2	Substitution - Missense(2)		lung(2)		0						c.(151-153)AAG>GAG		endothelin receptor type B isoform 1 precursor	Bosentan(DB00559)						71.0	75.0	74.0					13																	78492558		2203	4300	6503	SO:0001583	missense	1910				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	g.chr13:78492558T>C	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.151A>G	13.37:g.78492558T>C	ENSP00000335311:p.Lys51Glu					uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.K51E|EDNRB_uc010aez.1_Missense_Mutation_p.K51E|EDNRB_uc001vkp.1_Missense_Mutation_p.K134E|EDNRB_uc010afa.1_Missense_Mutation_p.K51E	p.K51E	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN		GBM - Glioblastoma multiforme(99;0.0933)	1	409	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	51			Extracellular (Potential).		A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	ENST00000334286.5	37	c.151A>G	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	T	5.485	0.274568	0.10403	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.53857	0.6;0.6;0.6	4.04	1.51	0.23008	.	0.927486	0.09275	N	0.824652	T	0.27798	0.0684	N	0.13043	0.29	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.25502	-1.0130	10	0.05620	T	0.96	-2.4878	5.4752	0.16692	0.0:0.254:0.0:0.746	.	51;141;51	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	E	141;51;51	ENSP00000366416:K141E;ENSP00000403401:K51E;ENSP00000335311:K51E	ENSP00000335311:K51E	K	-	1	0	EDNRB	77390559	0.000000	0.05858	0.033000	0.17914	0.613000	0.37349	0.330000	0.19715	0.211000	0.20683	0.482000	0.46254	AAG		PASS	0.632	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			22	23	22	23	---	---	---	---
GPC5	2262	broad.mit.edu	37	13	92345764	92345764	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr13:92345764A>T	ENST00000377067.3	+	3	1021	c.649A>T	c.(649-651)Agg>Tgg	p.R217W		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	217					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.R217W(2)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ACAGATGGGGAGGTCCCTGCT	0.522																																						uc010tif.1																			2	Substitution - Missense(2)		lung(1)|kidney(1)	ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(649-651)AGG>TGG		glypican 5 precursor							49.0	47.0	48.0					13																	92345764		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92345764A>T	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.649A>T	13.37:g.92345764A>T	ENSP00000366267:p.Arg217Trp						p.R217W	NM_004466	NP_004457	P78333	GPC5_HUMAN			3	1015	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	217					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.649A>T	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	A	17.94	3.511943	0.64522	.	.	ENSG00000179399	ENST00000377067	T	0.62364	0.03	5.07	2.57	0.30868	.	0.212839	0.47852	D	0.000203	T	0.76399	0.3982	M	0.77313	2.365	0.30884	N	0.731073	D	0.69078	0.997	D	0.73380	0.98	T	0.77046	-0.2733	10	0.87932	D	0	.	11.281	0.49195	0.6792:0.3208:0.0:0.0	.	217	P78333	GPC5_HUMAN	W	217	ENSP00000366267:R217W	ENSP00000366267:R217W	R	+	1	2	GPC5	91143765	0.348000	0.24861	0.997000	0.53966	0.886000	0.51366	1.181000	0.32017	0.247000	0.21414	0.383000	0.25322	AGG		PASS	0.522	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		11	13	11	13	---	---	---	---
SLC10A2	6555	broad.mit.edu	37	13	103705015	103705015	+	Missense_Mutation	SNP	C	C	T	rs200930322		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr13:103705015C>T	ENST00000245312.3	-	3	1136	c.540G>A	c.(538-540)atG>atA	p.M180I		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	180					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)	p.M180I(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	GATTAACAAACATTCCAATGG	0.388																																						uc001vpy.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(538-540)ATG>ATA		solute carrier family 10 (sodium/bile acid							209.0	194.0	199.0					13																	103705015		2203	4300	6503	SO:0001583	missense	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103705015C>T	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.540G>A	13.37:g.103705015C>T	ENSP00000245312:p.Met180Ile						p.M180I	NM_000452	NP_000443	Q12908	NTCP2_HUMAN			3	1137	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		180			Extracellular (Potential).		A1L4F4|Q13839	Missense_Mutation	SNP	ENST00000245312.3	37	c.540G>A	CCDS9506.1	.	.	.	.	.	.	.	.	.	.	C	3.503	-0.101487	0.06967	.	.	ENSG00000125255	ENST00000245312	T	0.09911	2.93	5.62	-1.01	0.10169	.	0.359745	0.37955	N	0.001864	T	0.02610	0.0079	N	0.01824	-0.7	0.34694	D	0.725996	B	0.02656	0.0	B	0.13407	0.009	T	0.43718	-0.9374	10	0.08837	T	0.75	-20.3575	5.1698	0.15105	0.0:0.3385:0.2668:0.3947	.	180	Q12908	NTCP2_HUMAN	I	180	ENSP00000245312:M180I	ENSP00000245312:M180I	M	-	3	0	SLC10A2	102503016	0.281000	0.24258	0.959000	0.39883	0.867000	0.49689	-0.295000	0.08298	0.052000	0.16007	0.563000	0.77884	ATG		PASS	0.388	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			32	30	32	30	---	---	---	---
OR4K5	79317	broad.mit.edu	37	14	20388876	20388876	+	Silent	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr14:20388876C>A	ENST00000315915.4	+	1	136	c.111C>A	c.(109-111)gtC>gtA	p.V37V		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V37V(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTATACAGTCATTGTGCTGG	0.408																																						uc010tkw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(109-111)GTC>GTA		olfactory receptor, family 4, subfamily K,							202.0	210.0	207.0					14																	20388876		2203	4300	6503	SO:0001819	synonymous_variant	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20388876C>A	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.111C>A	14.37:g.20388876C>A							p.V37V	NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	111	+	all_cancers(95;0.00108)		37			Helical; Name=1; (Potential).		Q6IFA7	Silent	SNP	ENST00000315915.4	37	c.111C>A	CCDS32024.1																																																																																				PASS	0.408	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		10	88	10	88	---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63246548	63246548	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr14:63246548G>T	ENST00000322893.7	-	10	2185	c.1917C>A	c.(1915-1917)caC>caA	p.H639Q	KCNH5_ENST00000394968.1_Missense_Mutation_p.H581Q|KCNH5_ENST00000420622.2_Intron	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	639					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.H581Q(1)|p.H639Q(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GCTTGATGATGTGTAGGTCAC	0.478																																						uc001xfx.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(1915-1917)CAC>CAA		potassium voltage-gated channel, subfamily H,							123.0	112.0	116.0					14																	63246548		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63246548G>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1917C>A	14.37:g.63246548G>T	ENSP00000321427:p.His639Gln					KCNH5_uc001xfy.2_Intron|KCNH5_uc001xfz.1_Missense_Mutation_p.H581Q	p.H639Q	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	10	1968	-			639			cNMP.|Cytoplasmic (Potential).		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.1917C>A	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828386	0.71143	.	.	ENSG00000140015	ENST00000322893;ENST00000394968	D;D	0.92545	-3.06;-3.06	5.72	3.9	0.45041	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.92051	0.7481	L	0.43554	1.36	0.80722	D	1	D;D	0.60575	0.985;0.988	P;P	0.62014	0.828;0.897	D	0.88434	0.3037	10	0.22109	T	0.4	.	10.1919	0.43032	0.2297:0.0:0.7703:0.0	.	581;639	Q8NCM2-3;Q8NCM2	.;KCNH5_HUMAN	Q	639;581	ENSP00000321427:H639Q;ENSP00000378419:H581Q	ENSP00000321427:H639Q	H	-	3	2	KCNH5	62316301	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.698000	0.61789	0.771000	0.33359	0.585000	0.79938	CAC		PASS	0.478	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		28	40	28	40	---	---	---	---
SNW1	22938	broad.mit.edu	37	14	78187074	78187074	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr14:78187074T>C	ENST00000261531.7	-	12	1290	c.1228A>G	c.(1228-1230)Agg>Ggg	p.R410G	SLIRP_ENST00000557623.1_3'UTR|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Missense_Mutation_p.R248G|SNW1_ENST00000555761.1_Missense_Mutation_p.R410G	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	410					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)	p.R410G(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TTGAAGAGCCTTTGGTCATAC	0.393																																						uc001xuf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1228-1230)AGG>GGG		SKI-interacting protein							204.0	176.0	186.0					14																	78187074		2203	4300	6503	SO:0001583	missense	22938				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	g.chr14:78187074T>C	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.1228A>G	14.37:g.78187074T>C	ENSP00000261531:p.Arg410Gly					SNW1_uc010tvm.1_Missense_Mutation_p.R335G|SNW1_uc010asu.2_Missense_Mutation_p.R248G|SNW1_uc010tvn.1_Missense_Mutation_p.R410G	p.R410G	NM_012245	NP_036377	Q13573	SNW1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	12	1255	-			410					A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	ENST00000261531.7	37	c.1228A>G	CCDS9867.1	.	.	.	.	.	.	.	.	.	.	T	19.16	3.774486	0.70107	.	.	ENSG00000100603	ENST00000261531;ENST00000554775;ENST00000555761	.	.	.	5.38	1.4	0.22301	.	0.085829	0.85682	D	0.000000	D	0.84701	0.5530	M	0.93808	3.46	0.58432	D	0.999999	D;D	0.89917	1.0;0.981	D;D	0.97110	1.0;0.95	D	0.86912	0.2061	9	0.87932	D	0	.	13.7384	0.62833	0.0:0.0:0.5268:0.4732	.	410;410	G3V3A4;Q13573	.;SNW1_HUMAN	G	410;248;410	.	ENSP00000261531:R410G	R	-	1	2	SNW1	77256827	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	1.022000	0.30052	0.053000	0.16036	0.383000	0.25322	AGG		PASS	0.393	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		29	66	29	66	---	---	---	---
SNW1	22938	broad.mit.edu	37	14	78187123	78187124	+	Missense_Mutation	DNP	AG	AG	GT			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr14:78187123_78187124AG>GT	ENST00000261531.7	-	12	1240_1241	c.1178_1179CT>AC	c.(1177-1179)gCT>gAC	p.A393D	SLIRP_ENST00000557623.1_3'UTR|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Missense_Mutation_p.A231D|SNW1_ENST00000555761.1_Missense_Mutation_p.A393D	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	393					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)	p.A393D(2)|p.A393A(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GAACACCGAGAGCAATAACTTC	0.386																																						uc001xuf.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(1177-1179)GCT>GCC|c.(1177-1179)GCT>GAT		SKI-interacting protein																																				SO:0001583	missense	22938				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	g.chr14:78187123A>G|g.chr14:78187124G>T	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.1178_1179delinsGT	14.37:g.78187123_78187124delinsGT	ENSP00000261531:p.Ala393Asp					SNW1_uc010tvm.1_Silent_p.A318A|SNW1_uc010asu.2_Silent_p.A231A|SNW1_uc010tvn.1_Silent_p.A393A|SNW1_uc010tvm.1_Missense_Mutation_p.A318D|SNW1_uc010asu.2_Missense_Mutation_p.A231D|SNW1_uc010tvn.1_Missense_Mutation_p.A393D	p.A393A|p.A393D	NM_012245	NP_036377	Q13573	SNW1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	12	1206|1205	-			393					A8K8A9|Q13483|Q32N03|Q5D0D6	Silent|Missense_Mutation	SNP	ENST00000261531.7	37	c.1179T>C|c.1178C>A	CCDS9867.1																																																																																				PASS	0.386	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		24	55|54	24	54	---	---	---	---
NRXN3	9369	broad.mit.edu	37	14	79432744	79432744	+	Silent	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr14:79432744C>A	ENST00000554719.1	+	9	2144	c.1653C>A	c.(1651-1653)gtC>gtA	p.V551V	NRXN3_ENST00000335750.5_Silent_p.V551V	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	144					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.V551V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TCGAGCTTGTCAAGGGGTAAG	0.423																																						uc001xun.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(1651-1653)GTC>GTA		neurexin 3 isoform 1 precursor							144.0	130.0	135.0					14																	79432744		2203	4300	6503	SO:0001819	synonymous_variant	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79432744C>A	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1653C>A	14.37:g.79432744C>A						NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Silent_p.V676V	p.V551V	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	9	2144	+		Renal(4;0.00876)	924			Extracellular (Potential).|Laminin G-like 5.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	ENST00000554719.1	37	c.1653C>A	CCDS9870.1																																																																																				PASS	0.423	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		12	77	12	77	---	---	---	---
JAG2	3714	broad.mit.edu	37	14	105615534	105615534	+	Missense_Mutation	SNP	C	C	T	rs202068896		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr14:105615534C>T	ENST00000331782.3	-	13	2129	c.1726G>A	c.(1726-1728)Gag>Aag	p.E576K	JAG2_ENST00000347004.2_Missense_Mutation_p.E538K|RP11-44N21.4_ENST00000548203.1_RNA	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	576	EGF-like 10; atypical. {ECO:0000255|PROSITE-ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)	p.E576K(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GGGCACGGCTCGCGGGGCACG	0.677																																						uc001yqg.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(2)	5						c.(1726-1728)GAG>AAG		jagged 2 isoform a precursor							61.0	70.0	67.0					14																	105615534		2201	4298	6499	SO:0001583	missense	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105615534C>T	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.1726G>A	14.37:g.105615534C>T	ENSP00000328169:p.Glu576Lys					JAG2_uc010axf.2_5'Flank|JAG2_uc001yqf.2_5'UTR|JAG2_uc001yqh.2_Missense_Mutation_p.E538K	p.E576K	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	13	2130	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	576			Extracellular (Potential).|EGF-like 10; atypical.		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	c.1726G>A	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	C	8.086	0.773401	0.16051	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.87650	-2.28;-2.28	4.5	-0.228	0.13098	.	0.546488	0.19035	N	0.124434	T	0.72518	0.3470	L	0.29908	0.895	0.09310	N	1	P;P	0.37573	0.6;0.465	B;B	0.33521	0.165;0.079	T	0.65088	-0.6253	10	0.62326	D	0.03	.	1.4332	0.02338	0.1559:0.4178:0.1536:0.2727	.	538;576	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	K	576;538	ENSP00000328169:E576K;ENSP00000328566:E538K	ENSP00000328169:E576K	E	-	1	0	JAG2	104686579	0.419000	0.25449	0.003000	0.11579	0.000000	0.00434	3.508000	0.53378	0.032000	0.15435	-2.082000	0.00379	GAG		PASS	0.677	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			8	37	8	37	---	---	---	---
GABRA5	2558	broad.mit.edu	37	15	27185220	27185220	+	Silent	SNP	T	T	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr15:27185220T>G	ENST00000335625.5	+	9	1761	c.873T>G	c.(871-873)gtT>gtG	p.V291V	GABRA5_ENST00000400081.3_Silent_p.V291V|GABRB3_ENST00000541819.2_5'Flank|GABRA5_ENST00000355395.5_Silent_p.V291V	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	291					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|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)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|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)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.V291V(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	CCAGGACAGTTTTTGGTGAGT	0.522																																						uc001zbd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(871-873)GTT>GTG		gamma-aminobutyric acid A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						54.0	52.0	52.0					15																	27185220		1938	4147	6085	SO:0001819	synonymous_variant	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27185220T>G		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.873T>G	15.37:g.27185220T>G						GABRB3_uc001zbb.2_5'Flank	p.V291V	NM_000810	NP_000801	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	10	1212	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	291			Helical; (Potential).		A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Silent	SNP	ENST00000335625.5	37	c.873T>G	CCDS45194.1																																																																																				PASS	0.522	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			3	16	3	16	---	---	---	---
CHRM5	1133	broad.mit.edu	37	15	34355670	34355670	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr15:34355670G>A	ENST00000383263.5	+	3	1422	c.752G>A	c.(751-753)aGa>aAa	p.R251K	CHRM5_ENST00000557872.1_Missense_Mutation_p.R251K	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	251					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.R251K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GCTCTGTTCAGATCCTGCTTG	0.602																																						uc001zhk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(751-753)AGA>AAA		cholinergic receptor, muscarinic 5	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)						78.0	78.0	78.0					15																	34355670		2201	4298	6499	SO:0001583	missense	1133				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr15:34355670G>A		CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1954	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 5"""	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.752G>A	15.37:g.34355670G>A	ENSP00000372750:p.Arg251Lys					CHRM5_uc001zhl.1_Missense_Mutation_p.R251K	p.R251K	NM_012125	NP_036257	P08912	ACM5_HUMAN		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	3	1422	+		all_lung(180;1.76e-08)	251			Cytoplasmic (By similarity).		Q96RG7	Missense_Mutation	SNP	ENST00000383263.5	37	c.752G>A	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.828724	0.00584	.	.	ENSG00000184984	ENST00000383263	T	0.61274	0.12	5.32	0.975	0.19721	GPCR, rhodopsin-like superfamily (1);	0.345212	0.29572	N	0.011763	T	0.27169	0.0666	N	0.04959	-0.14	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.17471	-1.0368	10	0.10902	T	0.67	-1.1529	6.1003	0.20043	0.1528:0.5964:0.2507:0.0	.	251	P08912	ACM5_HUMAN	K	251	ENSP00000372750:R251K	ENSP00000372750:R251K	R	+	2	0	CHRM5	32142962	0.926000	0.31397	0.584000	0.28653	0.388000	0.30384	1.547000	0.36190	0.357000	0.24183	0.585000	0.79938	AGA		PASS	0.602	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			14	66	14	66	---	---	---	---
SLC12A6	9990	broad.mit.edu	37	15	34553129	34553129	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr15:34553129C>G	ENST00000354181.3	-	4	901	c.409G>C	c.(409-411)Gag>Cag	p.E137Q	SLC12A6_ENST00000397702.2_Missense_Mutation_p.E78Q|SLC12A6_ENST00000451844.2_5'UTR|SLC12A6_ENST00000560611.1_Missense_Mutation_p.E137Q|SLC12A6_ENST00000558667.1_Missense_Mutation_p.E137Q|SLC12A6_ENST00000558589.1_Missense_Mutation_p.E128Q|SLC12A6_ENST00000290209.5_Missense_Mutation_p.E86Q|SLC12A6_ENST00000397707.2_Missense_Mutation_p.E122Q|SLC12A6_ENST00000560164.1_5'UTR|SLC12A6_ENST00000458406.2_Missense_Mutation_p.E78Q			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	137					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)	p.E128Q(1)|p.E86Q(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AATATTACCTCAAAGAGTGCC	0.333																																						uc001zhw.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|ovary(1)|skin(1)	7						c.(409-411)GAG>CAG		solute carrier family 12, member 6 isoform a	Potassium Chloride(DB00761)						57.0	61.0	59.0					15																	34553129		2199	4297	6496	SO:0001583	missense	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34553129C>G	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.409G>C	15.37:g.34553129C>G	ENSP00000346112:p.Glu137Gln					SLC12A6_uc001zhv.2_Missense_Mutation_p.E86Q|SLC12A6_uc001zhx.2_Missense_Mutation_p.E122Q|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.E78Q|SLC12A6_uc001zib.2_Missense_Mutation_p.E128Q|SLC12A6_uc001zic.2_Missense_Mutation_p.E137Q|SLC12A6_uc010bau.2_Missense_Mutation_p.E137Q|SLC12A6_uc001zid.2_Missense_Mutation_p.E78Q|SLC12A6_uc001zhu.2_5'UTR	p.E137Q	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	3	573	-		all_lung(180;2.78e-08)	137			Cytoplasmic (Potential).		A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	c.409G>C	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.716482	0.68844	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406	D;D;D;D	0.84873	-1.89;-1.91;-1.87;-1.87	4.78	4.78	0.61160	.	0.161390	0.44483	D	0.000460	D	0.84705	0.5531	L	0.41236	1.265	0.80722	D	1	P;P;B	0.51147	0.919;0.942;0.127	P;P;B	0.49561	0.615;0.562;0.133	D	0.86583	0.1855	10	0.62326	D	0.03	.	16.7314	0.85436	0.0:1.0:0.0:0.0	.	122;137;86	Q9UHW9-3;Q9UHW9;A0AV76	.;S12A6_HUMAN;.	Q	86;122;128;78;78	ENSP00000290209:E86Q;ENSP00000380819:E122Q;ENSP00000380814:E78Q;ENSP00000387725:E78Q	ENSP00000290209:E86Q	E	-	1	0	SLC12A6	32340421	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.059000	0.76684	2.478000	0.83669	0.563000	0.77884	GAG		PASS	0.333	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		5	18	5	18	---	---	---	---
TYRO3	7301	broad.mit.edu	37	15	41857334	41857334	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr15:41857334G>C	ENST00000263798.3	+	6	1002	c.778G>C	c.(778-780)Gtt>Ctt	p.V260L	TYRO3_ENST00000559066.1_Missense_Mutation_p.V215L	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	260	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V252L(1)|p.V260L(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GTCCTGTACAGTTCAGGTAGG	0.587																																						uc001zof.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|central_nervous_system(1)	6						c.(778-780)GTT>CTT		TYRO3 protein tyrosine kinase precursor							75.0	66.0	69.0					15																	41857334		2203	4300	6503	SO:0001583	missense	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41857334G>C	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.778G>C	15.37:g.41857334G>C	ENSP00000263798:p.Val260Leu						p.V260L	NM_006293	NP_006284	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	6	1002	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	260			Fibronectin type-III 1.|Extracellular (Potential).		O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	c.778G>C	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.164691	0.38217	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.63913	-0.07	4.95	4.95	0.65309	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.36972	N	0.002313	T	0.44222	0.1283	N	0.17082	0.46	0.40200	D	0.977503	B	0.23650	0.089	B	0.26517	0.07	T	0.35400	-0.9790	10	0.11182	T	0.66	-25.3667	13.5493	0.61723	0.0:0.0:1.0:0.0	.	260	Q06418	TYRO3_HUMAN	L	192;260	ENSP00000263798:V260L	ENSP00000263798:V260L	V	+	1	0	TYRO3	39644626	0.971000	0.33674	0.681000	0.30009	0.983000	0.72400	1.933000	0.40153	2.581000	0.87130	0.563000	0.77884	GTT		PASS	0.587	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			4	29	4	29	---	---	---	---
ZNF106	64397	broad.mit.edu	37	15	42720257	42720257	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr15:42720257C>A	ENST00000263805.4	-	12	5214	c.4888G>T	c.(4888-4890)Gcg>Tcg	p.A1630S	ZNF106_ENST00000565611.1_Missense_Mutation_p.A815S|RNU6-188P_ENST00000364207.1_RNA|ZNF106_ENST00000565380.1_Missense_Mutation_p.A858S	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1630					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A1630S(1)									GCCAGTCCCGCATAGAGGATT	0.493																																						uc001zpw.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(4888-4890)GCG>TCG		zinc finger protein 106 homolog							157.0	126.0	136.0					15																	42720257		2203	4299	6502	SO:0001583	missense	64397					nucleolus	zinc ion binding	g.chr15:42720257C>A	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.4888G>T	15.37:g.42720257C>A	ENSP00000263805:p.Ala1630Ser					ZFP106_uc001zpu.2_Missense_Mutation_p.A728S|ZFP106_uc001zpv.2_Missense_Mutation_p.A815S|ZFP106_uc001zpx.2_Missense_Mutation_p.A858S	p.A1630S	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN		GBM - Glioblastoma multiforme(94;8.6e-07)	12	5223	-		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)	1630					B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.4888G>T	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902648	0.52227	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.11385	2.78	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.105641	0.64402	D	0.000005	T	0.15652	0.0377	L	0.29908	0.895	0.49915	D	0.999834	P;D;P	0.56035	0.856;0.974;0.856	P;P;B	0.52710	0.516;0.707;0.393	T	0.07829	-1.0752	10	0.15952	T	0.53	-10.6351	19.1213	0.93365	0.0:1.0:0.0:0.0	.	858;1630;858	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	S	1630;858	ENSP00000263805:A1630S	ENSP00000263805:A1630S	A	-	1	0	ZFP106	40507549	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	5.550000	0.67268	2.753000	0.94483	0.650000	0.86243	GCG		PASS	0.493	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		10	63	10	63	---	---	---	---
SEMA6D	80031	broad.mit.edu	37	15	48063828	48063828	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr15:48063828C>G	ENST00000316364.5	+	19	3507	c.3068C>G	c.(3067-3069)cCt>cGt	p.P1023R	SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000536845.2_Missense_Mutation_p.P1023R|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P967R|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P948R|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P961R|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P961R|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P980R|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P1004R|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P961R|SEMA6D_ENST00000355997.3_3'UTR	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	1023					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.P961R(1)|p.P1023R(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CATCTGCAGCCTTCCCTCTCC	0.542																																						uc010bek.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|breast(1)	4						c.(3067-3069)CCT>CGT		semaphorin 6D isoform 4 precursor							139.0	133.0	135.0					15																	48063828		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48063828C>G	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.3068C>G	15.37:g.48063828C>G	ENSP00000324857:p.Pro1023Arg					SEMA6D_uc001zvw.2_Missense_Mutation_p.P961R|SEMA6D_uc001zvy.2_Missense_Mutation_p.P1023R|SEMA6D_uc001zvz.2_Missense_Mutation_p.P967R|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.P961R|SEMA6D_uc001zwc.2_Missense_Mutation_p.P948R	p.P1023R	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	19	3428	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	1023			Cytoplasmic (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.3068C>G	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414982	0.62511	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	T;T;T;T;T;T;T;T	0.19806	2.12;2.22;2.22;2.16;2.12;2.12;2.12;2.12	5.59	5.59	0.84812	.	0.248545	0.41294	D	0.000915	T	0.20981	0.0505	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.33549	0.022;0.007;0.417;0.022	B;B;B;B	0.37015	0.023;0.015;0.239;0.015	T	0.04693	-1.0933	10	0.87932	D	0	.	19.6119	0.95610	0.0:1.0:0.0:0.0	.	948;967;1023;961	Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;SEM6D_HUMAN;.	R	961;1023;1023;1004;980;967;961;948	ENSP00000442040:P961R;ENSP00000446152:P1023R;ENSP00000324857:P1023R;ENSP00000374084:P1004R;ENSP00000374083:P980R;ENSP00000346786:P967R;ENSP00000350770:P961R;ENSP00000374079:P948R	ENSP00000324857:P1023R	P	+	2	0	SEMA6D	45851120	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.648000	0.89879	0.563000	0.77884	CCT		PASS	0.542	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		18	111	18	111	---	---	---	---
HDC	3067	broad.mit.edu	37	15	50534871	50534871	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr15:50534871C>G	ENST00000267845.3	-	12	1977	c.1575G>C	c.(1573-1575)caG>caC	p.Q525H	RN7SL494P_ENST00000461517.2_RNA|HDC_ENST00000543581.1_Missense_Mutation_p.Q492H	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)		p.Q525H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		CACGCTGAGGCTGCTTGATGA	0.577																																					GBM(95;1627 1936 6910 9570)	uc001zxz.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(1573-1575)CAG>CAC		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						58.0	57.0	57.0					15																	50534871		2196	4295	6491	SO:0001583	missense	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50534871C>G		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1575G>C	15.37:g.50534871C>G	ENSP00000267845:p.Gln525His					HDC_uc001zxy.2_Missense_Mutation_p.Q268H|HDC_uc010uff.1_Missense_Mutation_p.Q492H	p.Q525H	NM_002112	NP_002103	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	12	1681	-		all_lung(180;0.0138)	525						Missense_Mutation	SNP	ENST00000267845.3	37	c.1575G>C	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.953091	0.53293	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.11169	2.95;2.8	5.95	5.03	0.67393	.	5.361650	0.00166	N	0.000001	T	0.22360	0.0539	L	0.38175	1.15	0.50313	D	0.99986	P;P	0.49447	0.924;0.924	P;P	0.52710	0.707;0.707	T	0.00250	-1.1878	10	0.72032	D	0.01	-16.3341	11.3476	0.49569	0.0:0.8613:0.0:0.1387	.	492;525	B7ZM01;P19113	.;DCHS_HUMAN	H	525;492	ENSP00000267845:Q525H;ENSP00000440252:Q492H	ENSP00000267845:Q525H	Q	-	3	2	HDC	48322163	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	1.816000	0.38992	1.527000	0.49086	0.563000	0.77884	CAG		PASS	0.577	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			8	18	8	18	---	---	---	---
LMAN1L	79748	broad.mit.edu	37	15	75108845	75108845	+	Silent	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr15:75108845C>A	ENST00000309664.5	+	3	547	c.408C>A	c.(406-408)atC>atA	p.I136I	LMAN1L_ENST00000379709.3_Silent_p.I136I	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	136	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.I136I(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCATCGGGATCTTCTTTGACT	0.687																																						uc002ayt.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(406-408)ATC>ATA		lectin, mannose-binding, 1 like precursor							81.0	80.0	80.0					15																	75108845		2197	4296	6493	SO:0001819	synonymous_variant	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75108845C>A	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.408C>A	15.37:g.75108845C>A						LMAN1L_uc010bkd.2_Silent_p.I64I|LMAN1L_uc010ulo.1_Intron|LMAN1L_uc010bke.1_Silent_p.I136I	p.I136I	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN			3	410	+			136			Lumenal (Potential).|L-type lectin-like.		Q6UWN2	Silent	SNP	ENST00000309664.5	37	c.408C>A	CCDS10270.1																																																																																				PASS	0.687	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			6	32	6	32	---	---	---	---
RASGRF1	5923	broad.mit.edu	37	15	79296437	79296437	+	Missense_Mutation	SNP	C	C	T	rs150222693		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr15:79296437C>T	ENST00000419573.3	-	16	2478	c.2204G>A	c.(2203-2205)cGc>cAc	p.R735H	RASGRF1_ENST00000394745.3_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.R719H|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	735	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R735H(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGAGAACTTGCGGGTGGCGCG	0.647																																						uc002beq.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)|central_nervous_system(1)	6						c.(2203-2205)CGC>CAC		Ras protein-specific guanine		C	HIS/ARG,HIS/ARG,	0,4392		0,0,2196	40.0	46.0	44.0		2156,2204,	4.3	1.0	15	dbSNP_134	44	1,8585	1.2+/-3.3	0,1,4292	no	missense,missense,utr-5	RASGRF1	NM_001145648.1,NM_002891.4,NM_153815.2	29,29,	0,1,6488	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,	719/1258,735/1274,	79296437	1,12977	2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79296437C>T	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2204G>A	15.37:g.79296437C>T	ENSP00000405963:p.Arg735His					RASGRF1_uc002bep.2_Missense_Mutation_p.R719H|RASGRF1_uc010blm.1_Missense_Mutation_p.R644H|RASGRF1_uc002ber.3_Missense_Mutation_p.R719H|RASGRF1_uc010unh.1_Missense_Mutation_p.R130H|RASGRF1_uc002beo.2_5'UTR	p.R735H	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			16	2579	-			735			N-terminal Ras-GEF.		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.2204G>A	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977887	0.92982	0.0	1.16E-4	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.69806	-0.43	4.35	4.35	0.52113	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.80560	0.4646	M	0.76002	2.32	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.997;0.996;0.985;0.999;0.966	T	0.82637	-0.0359	10	0.59425	D	0.04	.	14.3901	0.66973	0.0:1.0:0.0:0.0	.	131;735;719;735;719	B7Z6Z6;A8K270;Q8IUU5;Q13972;F8VPA5	.;.;.;RGRF1_HUMAN;.	H	735;719	ENSP00000405963:R735H	ENSP00000378224:R719H	R	-	2	0	RASGRF1	77083492	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.458000	0.80787	2.261000	0.74972	0.491000	0.48974	CGC		PASS	0.647	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		8	27	8	27	---	---	---	---
BCL2A1	597	broad.mit.edu	37	15	80253456	80253456	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr15:80253456T>A	ENST00000267953.3	-	2	807	c.481A>T	c.(481-483)Aca>Tca	p.T161S	BCL2A1_ENST00000335661.6_3'UTR	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	161					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.T161S(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						ATCTTTCCTGTAACTTCTAGA	0.353																																						uc002bfc.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(481-483)ACA>TCA		BCL2-related protein A1 isoform 1							97.0	93.0	95.0					15																	80253456		2203	4300	6503	SO:0001583	missense	597				anti-apoptosis|apoptosis	cytoplasm	protein binding	g.chr15:80253456T>A		CCDS10312.1, CCDS45322.1	15q24.3	2014-05-20			ENSG00000140379	ENSG00000140379			991	protein-coding gene	gene with protein product		601056		HBPA1		8589678, 12771180	Standard	NM_004049		Approved	GRS, BFL1, BCL2L5, ACC-1, ACC-2	uc002bfc.4	Q16548	OTTHUMG00000144173	ENST00000267953.3:c.481A>T	15.37:g.80253456T>A	ENSP00000267953:p.Thr161Ser					BCL2A1_uc002bfd.3_3'UTR	p.T161S	NM_004049	NP_004040	Q16548	B2LA1_HUMAN			2	663	-			161					Q6FGZ4|Q6FH19|Q86W13|Q99524	Missense_Mutation	SNP	ENST00000267953.3	37	c.481A>T	CCDS10312.1	.	.	.	.	.	.	.	.	.	.	T	7.487	0.649781	0.14516	.	.	ENSG00000140379	ENST00000267953	T	0.08370	3.1	4.13	-5.15	0.02866	.	1.160920	0.06289	N	0.698924	T	0.03564	0.0102	N	0.14661	0.345	0.09310	N	0.999999	B	0.14438	0.01	B	0.11329	0.006	T	0.43940	-0.9360	10	0.32370	T	0.25	-25.6181	0.2623	0.00220	0.3777:0.2113:0.1483:0.2628	.	161	Q16548	B2LA1_HUMAN	S	161	ENSP00000267953:T161S	ENSP00000267953:T161S	T	-	1	0	BCL2A1	78040511	0.001000	0.12720	0.001000	0.08648	0.032000	0.12392	-0.135000	0.10420	-0.515000	0.06479	-0.531000	0.04308	ACA		PASS	0.353	BCL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291372.1	NM_004049		11	28	11	28	---	---	---	---
MEF2A	4205	broad.mit.edu	37	15	100211761	100211761	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr15:100211761C>T	ENST00000354410.5	+	5	924	c.295C>T	c.(295-297)Cca>Tca	p.P99S	MEF2A_ENST00000338042.6_Intron|MEF2A_ENST00000449277.2_Intron|MEF2A_ENST00000557785.1_Intron|MEF2A_ENST00000558812.1_Intron|MEF2A_ENST00000453228.2_Intron|MEF2A_ENST00000557942.1_Intron	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	99					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)	p.P99S(3)		endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			GTGCGACAGCCCAGACCCTGA	0.333																																						uc010urw.1																			3	Substitution - Missense(3)		lung(1)|kidney(1)|central_nervous_system(1)	ovary(1)	1						c.(295-297)CCA>TCA		myocyte enhancer factor 2A isoform 1							82.0	69.0	73.0					15																	100211761		1843	4079	5922	SO:0001583	missense	4205				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|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|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	g.chr15:100211761C>T		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000354410.5:c.295C>T	15.37:g.100211761C>T	ENSP00000346389:p.Pro99Ser					MEF2A_uc010urv.1_Intron|MEF2A_uc010bos.2_Intron|MEF2A_uc002bvf.2_Missense_Mutation_p.P99S|MEF2A_uc002bve.2_Intron|MEF2A_uc002bvg.2_Intron|MEF2A_uc002bvi.2_Intron|MEF2A_uc010bot.2_Intron	p.P99S	NM_005587	NP_005578	Q02078	MEF2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00085)		4	654	+	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		99					B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000354410.5	37	c.295C>T	CCDS45362.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814941	0.90790	.	.	ENSG00000068305	ENST00000354410	T	0.63255	-0.03	5.42	5.42	0.78866	Holliday junction regulator protein family C-terminal repeat (1);	0.000000	0.85682	D	0.000000	D	0.82866	0.5130	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.85220	0.1026	10	0.72032	D	0.01	-16.5447	19.5673	0.95398	0.0:1.0:0.0:0.0	.	99;99	Q02078;Q02078-5	MEF2A_HUMAN;.	S	99	ENSP00000346389:P99S	ENSP00000346389:P99S	P	+	1	0	MEF2A	98029284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.706000	0.92434	0.462000	0.41574	CCA		PASS	0.333	MEF2A-001	KNOWN	overlapping_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000415980.1			3	12	3	12	---	---	---	---
CAPN15	6650	broad.mit.edu	37	16	603410	603410	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr16:603410G>A	ENST00000219611.2	+	14	3518	c.3155G>A	c.(3154-3156)cGc>cAc	p.R1052H	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	1052					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R1052H(1)									CTGGCACATCGCAAGGCAGCC	0.677																																						uc002chi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(3154-3156)CGC>CAC		small optic lobes							63.0	64.0	63.0					16																	603410		2201	4299	6500	SO:0001583	missense	6650				proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:603410G>A	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.3155G>A	16.37:g.603410G>A	ENSP00000219611:p.Arg1052His					SOLH_uc002chj.2_Missense_Mutation_p.R112H	p.R1052H	NM_005632	NP_005623	O75808	CAN15_HUMAN			14	3518	+		Hepatocellular(780;0.00335)	1052					B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	37	c.3155G>A	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	g	27.2	4.808742	0.90707	.	.	ENSG00000103326	ENST00000219611	D	0.91631	-2.88	4.9	2.91	0.33838	.	0.112278	0.64402	D	0.000018	D	0.94594	0.8258	M	0.71036	2.16	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	D	0.94142	0.7398	10	0.87932	D	0	.	9.7271	0.40339	0.1724:0.0:0.8276:0.0	.	1052	O75808	CAN15_HUMAN	H	1052	ENSP00000219611:R1052H	ENSP00000219611:R1052H	R	+	2	0	SOLH	543411	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.961000	0.93122	1.200000	0.43188	0.506000	0.49869	CGC		PASS	0.677	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		14	35	14	35	---	---	---	---
SSTR5	6755	broad.mit.edu	37	16	1129327	1129327	+	Silent	SNP	G	G	T	rs141899937		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr16:1129327G>T	ENST00000293897.4	+	1	547	c.459G>T	c.(457-459)ccG>ccT	p.P153P	SSTR5_ENST00000562758.1_Silent_p.P153P|SSTR5_ENST00000397547.2_Silent_p.P153P|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	153					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.P153P(1)		endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	GGCGCCGCCCGCGTGTGGCCA	0.687																																						uc002ckq.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(457-459)CCG>CCT		somatostatin receptor 5	Octreotide(DB00104)						15.0	17.0	16.0					16																	1129327		2177	4265	6442	SO:0001819	synonymous_variant	6755				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129327G>T	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.459G>T	16.37:g.1129327G>T						LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank	p.P153P	NM_001053	NP_001044	P35346	SSR5_HUMAN			1	547	+		Hepatocellular(780;0.00369)	153			Cytoplasmic (Potential).		P34988|Q541E0|Q9UJI5	Silent	SNP	ENST00000293897.4	37	c.459G>T	CCDS10429.1																																																																																				PASS	0.687	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			7	5	7	5	---	---	---	---
MAPK8IP3	23162	broad.mit.edu	37	16	1798307	1798307	+	Missense_Mutation	SNP	G	G	T	rs374099237		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr16:1798307G>T	ENST00000250894.4	+	7	1211	c.1054G>T	c.(1054-1056)Gac>Tac	p.D352Y	MAPK8IP3_ENST00000568271.1_3'UTR|MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.D352Y	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	352					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)	p.D353Y(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GCCAGAGCTGGACATGTGTCC	0.607																																						uc002cmk.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|central_nervous_system(1)	3						c.(1054-1056)GAC>TAC		mitogen-activated protein kinase 8 interacting		G	TYR/ASP,TYR/ASP	1,3973		0,1,1986	54.0	55.0	55.0		1054,1054	4.9	1.0	16		55	0,8330		0,0,4165	no	missense,missense	MAPK8IP3	NM_001040439.1,NM_015133.3	160,160	0,1,6151	TT,TG,GG		0.0,0.0252,0.0081	probably-damaging,probably-damaging	352/1331,352/1337	1798307	1,12303	1987	4165	6152	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1798307G>T	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.1054G>T	16.37:g.1798307G>T	ENSP00000250894:p.Asp352Tyr					MAPK8IP3_uc002cml.2_Missense_Mutation_p.D352Y|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.D353Y	p.D352Y	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN			7	1174	+			352					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.1054G>T	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334379	0.81801	2.52E-4	0.0	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.37584	1.2;1.19	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.59376	0.2189	M	0.69823	2.125	0.80722	D	1	P;D;D	0.71674	0.852;0.957;0.998	P;P;D	0.65987	0.821;0.873;0.94	T	0.64630	-0.6362	10	0.87932	D	0	-38.6131	17.9434	0.89032	0.0:0.0:1.0:0.0	.	353;352;352	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	Y	352	ENSP00000250894:D352Y;ENSP00000348290:D352Y	ENSP00000250894:D352Y	D	+	1	0	MAPK8IP3	1738308	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.650000	0.98490	2.390000	0.81377	0.478000	0.44815	GAC		PASS	0.607	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		17	20	17	20	---	---	---	---
MEFV	4210	broad.mit.edu	37	16	3306572	3306572	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr16:3306572T>C	ENST00000219596.1	-	1	55	c.16A>G	c.(16-18)Agt>Ggt	p.S6G	MEFV_ENST00000536379.1_Missense_Mutation_p.S6G|MEFV_ENST00000339854.4_Missense_Mutation_p.S6G|MEFV_ENST00000541159.1_Missense_Mutation_p.S6G	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	6	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.S6G(2)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						AGATGGTCACTAGGGGTCTTA	0.552																																						uc002cun.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6						c.(16-18)AGT>GGT		Mediterranean fever protein	Colchicine(DB01394)						81.0	90.0	87.0					16																	3306572		2197	4300	6497	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3306572T>C	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.16A>G	16.37:g.3306572T>C	ENSP00000219596:p.Ser6Gly						p.S6G	NM_000243	NP_000234	O15553	MEFV_HUMAN			1	56	-			6			DAPIN.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.16A>G	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	T	4.986	0.183048	0.09495	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.98	2.54	0.30619	Pyrin (2);DEATH-like (2);	0.323219	0.27072	N	0.021070	T	0.28034	0.0691	N	0.25144	0.715	0.09310	N	1	B	0.22541	0.071	B	0.22152	0.038	T	0.19516	-1.0303	10	0.16420	T	0.52	-13.9915	7.0385	0.25006	0.0:0.2664:0.0:0.7336	.	6	O15553	MEFV_HUMAN	G	6	ENSP00000219596:S6G;ENSP00000339639:S6G;ENSP00000438711:S6G;ENSP00000445079:S6G	ENSP00000219596:S6G	S	-	1	0	MEFV	3246573	0.034000	0.19679	0.014000	0.15608	0.657000	0.38888	0.411000	0.21115	0.176000	0.19873	0.482000	0.46254	AGT		PASS	0.552	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		12	41	12	41	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3823884	3823884	+	Silent	SNP	A	A	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr16:3823884A>G	ENST00000262367.5	-	13	3140	c.2331T>C	c.(2329-2331)ggT>ggC	p.G777G	CREBBP_ENST00000382070.3_Silent_p.G739G	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	777					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.G777G(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGGTGTGTGCACCCATCATGT	0.587			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2				Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(2329-2331)GGT>GGC		CREB binding protein isoform a							102.0	98.0	100.0					16																	3823884		2197	4300	6497	SO:0001819	synonymous_variant	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3823884A>G	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2331T>C	16.37:g.3823884A>G						CREBBP_uc002cvw.2_Silent_p.G739G	p.G777G	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	13	2535	-		Ovarian(90;0.0266)	777					D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	c.2331T>C	CCDS10509.1																																																																																				PASS	0.587	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		24	52	24	52	---	---	---	---
PARN	5073	broad.mit.edu	37	16	14576629	14576629	+	Silent	SNP	A	A	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr16:14576629A>G	ENST00000437198.2	-	22	1677	c.1536T>C	c.(1534-1536)taT>taC	p.Y512Y	PARN_ENST00000539279.1_Silent_p.Y337Y|PARN_ENST00000341484.7_Silent_p.Y451Y|PARN_ENST00000420015.2_Silent_p.Y466Y	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	512					female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)	p.Y512Y(2)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						TTCTCCCCATATATTCAGCAT	0.413																																						uc010uzd.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1534-1536)TAT>TAC		poly(A)-specific ribonuclease (deadenylation							162.0	144.0	150.0					16																	14576629		1851	4106	5957	SO:0001819	synonymous_variant	5073				female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding	g.chr16:14576629A>G	AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"""deadenylation nuclease"""	604212	"""poly(A)-specific ribonuclease (deadenylation nuclease)"""			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.1536T>C	16.37:g.14576629A>G						PARN_uc010uzc.1_Silent_p.Y451Y|PARN_uc010uze.1_Silent_p.Y466Y|PARN_uc010uzf.1_Silent_p.Y337Y	p.Y512Y	NM_002582	NP_002573	O95453	PARN_HUMAN			22	1678	-			512					B2RCB3|B4DDG8|B4DWR4|B4E1H6	Silent	SNP	ENST00000437198.2	37	c.1536T>C	CCDS45419.1																																																																																				PASS	0.413	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422383.1	NM_002582		8	25	8	25	---	---	---	---
GP2	2813	broad.mit.edu	37	16	20335162	20335162	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr16:20335162A>G	ENST00000381362.4	-	3	587	c.511T>C	c.(511-513)Tgg>Cgg	p.W171R	GP2_ENST00000573897.1_5'Flank|GP2_ENST00000302555.5_Missense_Mutation_p.W171R|GP2_ENST00000341642.5_Intron|GP2_ENST00000381360.5_Intron	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	171					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.W171R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGATTACACCAGGGAGTGCCT	0.577																																						uc002dgv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(511-513)TGG>CGG		zymogen granule membrane glycoprotein 2 isoform							26.0	25.0	25.0					16																	20335162		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20335162A>G	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.511T>C	16.37:g.20335162A>G	ENSP00000370767:p.Trp171Arg					GP2_uc002dgw.2_Missense_Mutation_p.W171R|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron	p.W171R	NM_001007240	NP_001007241	P55259	GP2_HUMAN			3	594	-			171					A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.511T>C	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	a	0.062	-1.221877	0.01530	.	.	ENSG00000169347	ENST00000302555;ENST00000381362	D;D	0.99167	-3.67;-5.51	4.84	-9.67	0.00531	.	.	.	.	.	D	0.94804	0.8322	L	0.44542	1.39	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	D	0.88266	0.2926	9	0.13470	T	0.59	4.1959	1.1381	0.01759	0.1731:0.1971:0.2552:0.3746	.	171;171	P55259-3;P55259	.;GP2_HUMAN	R	171	ENSP00000304044:W171R;ENSP00000370767:W171R	ENSP00000304044:W171R	W	-	1	0	GP2	20242663	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.222000	0.01215	-2.424000	0.00561	-2.204000	0.00303	TGG		PASS	0.577	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		5	11	5	11	---	---	---	---
PDILT	204474	broad.mit.edu	37	16	20370844	20370844	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr16:20370844C>G	ENST00000302451.4	-	12	1800	c.1552G>C	c.(1552-1554)Gct>Cct	p.A518P		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	518					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.A518P(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTTCCTCAGCTAGCACTTCC	0.483																																						uc002dhc.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1552-1554)GCT>CCT		protein disulfide isomerase-like, testis							159.0	132.0	141.0					16																	20370844		2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370844C>G		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1552G>C	16.37:g.20370844C>G	ENSP00000305465:p.Ala518Pro						p.A518P	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			12	1775	-			518					Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.1552G>C	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	C	8.432	0.848865	0.17034	.	.	ENSG00000169340	ENST00000302451	T	0.03553	3.89	3.86	0.784	0.18578	.	2.185130	0.02121	N	0.055593	T	0.04048	0.0113	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.41538	-0.9503	10	0.39692	T	0.17	.	6.1581	0.20348	0.0:0.4388:0.4466:0.1146	.	518	Q8N807	PDILT_HUMAN	P	518	ENSP00000305465:A518P	ENSP00000305465:A518P	A	-	1	0	PDILT	20278345	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.047000	0.14056	0.217000	0.20800	-0.254000	0.11334	GCT		PASS	0.483	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		25	54	25	54	---	---	---	---
LOC81691	81691	broad.mit.edu	37	16	20839834	20839834	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr16:20839834A>G	ENST00000261377.6	+	11	1342	c.1133A>G	c.(1132-1134)tAt>tGt	p.Y378C	AC004381.6_ENST00000348433.6_Missense_Mutation_p.Y378C|AC004381.6_ENST00000564274.1_Missense_Mutation_p.Y378C|ERI2_ENST00000564349.1_Intron	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2												p.Y378C(1)									TTGGCTCGGTATTTCCTTAAG	0.398																																						uc002dhv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(1132-1134)TAT>TGT		exonuclease NEF-sp isoform 1							200.0	172.0	181.0					16																	20839834		2201	4300	6501	SO:0001583	missense	81691					nucleolus	exonuclease activity|nucleotide binding|RNA binding	g.chr16:20839834A>G																												ENST00000261377.6:c.1133A>G	16.37:g.20839834A>G	ENSP00000261377:p.Tyr378Cys					ERI2_uc002dht.3_Intron|LOC81691_uc002dhx.2_Missense_Mutation_p.Y378C|LOC81691_uc002dhw.2_Missense_Mutation_p.Y121C|LOC81691_uc002dhy.3_Missense_Mutation_p.Y378C	p.Y378C	NM_030941	NP_112203	Q96IC2	REXON_HUMAN			11	1396	+			378						Missense_Mutation	SNP	ENST00000261377.6	37	c.1133A>G	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.935786	0.52972	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.33438	1.41;1.81	5.2	4.11	0.48088	Exonuclease (1);Ribonuclease H-like (1);	0.069356	0.64402	D	0.000015	T	0.50222	0.1603	M	0.71581	2.175	0.39578	D	0.969398	D;P	0.76494	0.999;0.95	D;P	0.68621	0.959;0.571	T	0.52457	-0.8573	10	0.59425	D	0.04	-14.3844	9.8713	0.41175	0.9177:0.0:0.0823:0.0	.	378;378	Q96IC2-2;Q96IC2	.;REXON_HUMAN	C	378	ENSP00000261378:Y378C;ENSP00000261377:Y378C	ENSP00000261377:Y378C	Y	+	2	0	AC004381.6	20747335	1.000000	0.71417	0.963000	0.40424	0.437000	0.31866	3.216000	0.51176	0.828000	0.34709	0.402000	0.26972	TAT		PASS	0.398	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			23	28	23	28	---	---	---	---
AQP8	343	broad.mit.edu	37	16	25238511	25238511	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr16:25238511G>T	ENST00000219660.5	+	5	850	c.725G>T	c.(724-726)gGa>gTa	p.G242V	AQP8_ENST00000566125.1_Missense_Mutation_p.G236V	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	242					canalicular bile acid transport (GO:0015722)|cellular response to cAMP (GO:0071320)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)	p.G242V(2)		NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		CTGCTTGTTGGACTGCTCATT	0.597																																						uc002doc.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3						c.(724-726)GGA>GTA		aquaporin 8							92.0	77.0	82.0					16																	25238511		2197	4300	6497	SO:0001583	missense	343				cellular response to cAMP	integral to plasma membrane	water channel activity	g.chr16:25238511G>T	BC040630	CCDS10626.1	16p12	2008-02-05			ENSG00000103375	ENSG00000103375		"""Ion channels / Aquaporins"""	642	protein-coding gene	gene with protein product		603750				9806845, 10393433	Standard	NM_001169		Approved		uc002doc.3	O94778	OTTHUMG00000097013	ENST00000219660.5:c.725G>T	16.37:g.25238511G>T	ENSP00000219660:p.Gly242Val						p.G242V	NM_001169	NP_001160	O94778	AQP8_HUMAN		GBM - Glioblastoma multiforme(48;0.044)	5	807	+			242			Helical; (Potential).		Q8IUU3|Q9UIA4	Missense_Mutation	SNP	ENST00000219660.5	37	c.725G>T	CCDS10626.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.766466	0.31228	.	.	ENSG00000103375	ENST00000219660	D	0.86694	-2.16	5.52	4.51	0.55191	Aquaporin-like (2);	0.342750	0.30446	N	0.009602	T	0.82226	0.4991	L	0.46741	1.465	0.80722	D	1	P	0.35468	0.503	B	0.33196	0.159	T	0.81927	-0.0709	10	0.40728	T	0.16	-7.3237	13.5327	0.61631	0.0:0.1575:0.8425:0.0	.	242	O94778	AQP8_HUMAN	V	242	ENSP00000219660:G242V	ENSP00000219660:G242V	G	+	2	0	AQP8	25146012	0.967000	0.33354	0.928000	0.36995	0.696000	0.40369	1.821000	0.39041	2.600000	0.87896	0.561000	0.74099	GGA		PASS	0.597	AQP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214102.2	NM_001169		5	27	5	27	---	---	---	---
MAZ	4150	broad.mit.edu	37	16	29818992	29818992	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr16:29818992C>T	ENST00000322945.6	+	2	1051	c.886C>T	c.(886-888)Cga>Tga	p.R296*	MAZ_ENST00000219782.6_Nonsense_Mutation_p.R296*|MAZ_ENST00000569978.1_5'Flank|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000562337.1_Intron|MAZ_ENST00000563402.1_Intron|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000566906.2_Intron|MAZ_ENST00000568282.1_5'Flank|MAZ_ENST00000568544.1_5'Flank|MAZ_ENST00000545521.1_Nonsense_Mutation_p.R273*|AC009133.14_ENST00000563806.1_RNA|AC009133.20_ENST00000569039.1_RNA	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	296					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R296*(2)		endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CCACCTGAACCGACACAAGCT	0.642																																					Colon(72;875 1167 15364 30899 37091)	uc002dty.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(886-888)CGA>TGA		MYC-associated zinc finger protein isoform 1							63.0	68.0	66.0					16																	29818992		2156	4245	6401	SO:0001587	stop_gained	4150				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr16:29818992C>T	M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.886C>T	16.37:g.29818992C>T	ENSP00000313362:p.Arg296*					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Intron|MAZ_uc010vdx.1_Nonsense_Mutation_p.R273*|MAZ_uc002dtw.2_Intron|MAZ_uc002dtx.2_Nonsense_Mutation_p.R296*|MAZ_uc010bzg.2_Intron|MAZ_uc002dtz.1_Nonsense_Mutation_p.R14*|MAZ_uc002dua.2_5'Flank|MAZ_uc010vdy.1_5'Flank	p.R296*	NM_002383	NP_002374	P56270	MAZ_HUMAN			2	1054	+			296			C2H2-type 2.		A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Nonsense_Mutation	SNP	ENST00000322945.6	37	c.886C>T	CCDS42143.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084915	0.55861	.	.	ENSG00000103495	ENST00000545521;ENST00000322945;ENST00000219782;ENST00000544343	.	.	.	3.12	3.12	0.35913	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-1.8566	12.075	0.53638	0.0:1.0:0.0:0.0	.	.	.	.	X	273;296;296;72	.	ENSP00000219782:R296X	R	+	1	2	MAZ	29726493	1.000000	0.71417	0.934000	0.37439	0.005000	0.04900	2.386000	0.44380	1.464000	0.47987	0.442000	0.29010	CGA		PASS	0.642	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435536.1	NM_002383		5	20	5	20	---	---	---	---
ABCC11	85320	broad.mit.edu	37	16	48209318	48209318	+	Silent	SNP	G	G	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr16:48209318G>A	ENST00000394747.1	-	25	3898	c.3549C>T	c.(3547-3549)tcC>tcT	p.S1183S	ABCC11_ENST00000356608.2_Silent_p.S1183S|ABCC11_ENST00000353782.5_Silent_p.S1183S|ABCC11_ENST00000394748.1_Silent_p.S1183S|ABCC11_ENST00000565329.1_5'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1183	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.S1183S(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CCATGCCCAAGGAGGACTTCC	0.612																																						uc002eff.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(3547-3549)TCC>TCT		ATP-binding cassette, sub-family C, member 11							42.0	39.0	40.0					16																	48209318		2201	4300	6501	SO:0001819	synonymous_variant	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48209318G>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3549C>T	16.37:g.48209318G>A						ABCC11_uc002efg.1_Silent_p.S1183S|ABCC11_uc002efh.1_Silent_p.S1183S|ABCC11_uc010cbg.1_RNA	p.S1183S	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			25	3899	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1183			ABC transporter 2.|Cytoplasmic (Potential).		Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	c.3549C>T	CCDS10732.1																																																																																				PASS	0.612	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		8	12	8	12	---	---	---	---
ZNRF1	84937	broad.mit.edu	37	16	75147555	75147555	+	IGR	SNP	T	T	C			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr16:75147555T>C	ENST00000335325.4	+	0	4620				RP11-252E2.1_ENST00000499110.1_RNA|LDHD_ENST00000450168.2_Missense_Mutation_p.I322V|LDHD_ENST00000300051.4_Missense_Mutation_p.I345V	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase						proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I345V(1)		breast(1)	1						TGCTGGACTATCTCCTCTGCA	0.667																																						uc002fdm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1033-1035)ATA>GTA		D-lactate dehydrogenase isoform 1 precursor							28.0	33.0	31.0					16																	75147555		2198	4299	6497	SO:0001628	intergenic_variant	197257						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding	g.chr16:75147555T>C	AF378524	CCDS10912.1	16q22.3	2013-01-09	2012-02-23		ENSG00000186187	ENSG00000186187		"""RING-type (C3HC4) zinc fingers"""	18452	protein-coding gene	gene with protein product		612060	"""zinc and ring finger 1"""				Standard	NM_032268		Approved	nin283, FLJ14846, DKFZp434E229	uc002fdl.1	Q8ND25	OTTHUMG00000137606		16.37:g.75147555T>C						LDHD_uc002fdn.2_Missense_Mutation_p.I322V	p.I345V	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN			8	1080	-			345					D3DUJ9|Q9H083	Missense_Mutation	SNP	ENST00000335325.4	37	c.1033A>G	CCDS10912.1	.	.	.	.	.	.	.	.	.	.	T	11.74	1.727709	0.30593	.	.	ENSG00000166816	ENST00000450168;ENST00000300051	D;D	0.88896	-2.44;-2.44	5.09	4.0	0.46444	FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84365	0.5456	L	0.44542	1.39	0.46396	D	0.999024	P;P	0.39376	0.67;0.65	B;B	0.40782	0.303;0.34	T	0.82039	-0.0655	10	0.62326	D	0.03	-30.4863	7.6956	0.28592	0.0:0.0745:0.1399:0.7855	.	322;345	Q86WU2-2;Q86WU2	.;LDHD_HUMAN	V	322;345	ENSP00000417011:I322V;ENSP00000300051:I345V	ENSP00000300051:I345V	I	-	1	0	LDHD	73705056	0.873000	0.30073	0.980000	0.43619	0.233000	0.25261	1.057000	0.30492	0.794000	0.33899	0.379000	0.24179	ATA		PASS	0.667	ZNRF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269020.2			4	13	4	13	---	---	---	---
CLEC3A	10143	broad.mit.edu	37	16	78064611	78064611	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr16:78064611G>A	ENST00000575655.1	+	3	548	c.467G>A	c.(466-468)cGt>cAt	p.R156H	RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000565808.1_3'UTR|CLEC3A_ENST00000299642.4_Missense_Mutation_p.R165H	NM_005752.4	NP_005743.4	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	156	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				skeletal system development (GO:0001501)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.R156H(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						AACTGGGACCGTGCACAGCCT	0.532																																						uc002ffh.3																			1	Substitution - Missense(1)		lung(1)		0						c.(466-468)CGT>CAT		C-type lectin domain family 3 member A							136.0	120.0	126.0					16																	78064611		2198	4300	6498	SO:0001583	missense	10143				skeletal system development	extracellular region	sugar binding	g.chr16:78064611G>A	AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509		"""C-type lectin domain containing"""	2052	protein-coding gene	gene with protein product		613588	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)"""	CLECSF1		10524194	Standard	NM_001244755		Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000575655.1:c.467G>A	16.37:g.78064611G>A	ENSP00000460682:p.Arg156His						p.R156H	NM_005752	NP_005743	O75596	CLC3A_HUMAN			3	548	+			156			C-type lectin.		B2R8C4|Q3SX91|Q6UXF5	Missense_Mutation	SNP	ENST00000575655.1	37	c.467G>A		.	.	.	.	.	.	.	.	.	.	G	13.49	2.252004	0.39797	.	.	ENSG00000166509	ENST00000299642	.	.	.	5.77	2.44	0.29823	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.304579	0.42053	N	0.000773	T	0.59404	0.2191	M	0.63208	1.945	0.47308	D	0.99938	B	0.12013	0.005	B	0.13407	0.009	T	0.56745	-0.7928	9	0.44086	T	0.13	-0.8728	15.2916	0.73870	0.0882:0.0:0.9118:0.0	.	156	O75596	CLC3A_HUMAN	H	156	.	ENSP00000299642:R156H	R	+	2	0	CLEC3A	76622112	0.922000	0.31269	0.117000	0.21633	0.609000	0.37215	2.646000	0.46630	0.306000	0.22856	0.655000	0.94253	CGT		PASS	0.532	CLEC3A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005752		17	44	17	44	---	---	---	---
PIEZO1	9780	broad.mit.edu	37	16	88781041	88781041	+	IGR	SNP	G	G	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr16:88781041G>A	ENST00000301015.9	-	0	8072				CTU2_ENST00000378384.3_Silent_p.Q329Q|MIR4722_ENST00000578292.1_RNA|CTU2_ENST00000453996.2_Silent_p.Q416Q|CTU2_ENST00000567949.1_Silent_p.Q487Q|CTU2_ENST00000312060.5_Silent_p.Q416Q	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)	p.Q416Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						GTCTCTCCCAGATGCAGTCAC	0.697																																						uc002flm.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1246-1248)CAG>CAA		cytoplasmic tRNA 2-thiolation protein 2 isoform							44.0	46.0	45.0					16																	88781041		2190	4296	6486	SO:0001628	intergenic_variant	348180				tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding	g.chr16:88781041G>A	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776		16.37:g.88781041G>A						CTU2_uc002fln.2_Silent_p.Q416Q|CTU2_uc010chz.2_Silent_p.Q487Q|CTU2_uc010cia.2_Silent_p.Q329Q	p.Q416Q	NM_001012759	NP_001012777	Q2VPK5	CTU2_HUMAN			12	1296	+			416					A6NHT9|A7E2B7|Q0KKZ9	Silent	SNP	ENST00000301015.9	37	c.1248G>A	CCDS54058.1																																																																																				PASS	0.697	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4	NM_014745		15	27	15	27	---	---	---	---
OR3A4P	390756	broad.mit.edu	37	17	3213890	3213890	+	RNA	SNP	C	C	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr17:3213890C>T	ENST00000573491.1	-	0	359																		p.P96S(1)									CAGAAGCATTCCCTATAAGGC	0.547																																						uc002fvi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(286-288)CCC>TCC		RecName: Full=Olfactory receptor 3A4; AltName: Full=Olfactory receptor 17-24;          Short=OR17-24;							119.0	114.0	116.0					17																	3213890		2203	4300	6503			390756							g.chr17:3213890C>T																													17.37:g.3213890C>T							p.P96S	NR_024128						1	352	+									Missense_Mutation	SNP	ENST00000573491.1	37	c.286C>T																																																																																					PASS	0.547	RP11-64J4.2-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000438371.1			16	17	16	17	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7573982	7573983	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr17:7573982_7573983CC>AA	ENST00000269305.4	-	10	1233_1234	c.1044_1045GG>TT	c.(1042-1047)ttGGaa>ttTTaa	p.348_349LE>F*	TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.348_349LE>F*	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	348	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		E -> D (in a sporadic cancer; somatic mutation).|L -> F (in a sporadic cancer; somatic mutation).|L -> S (in a sporadic cancer; 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.E349*(11)|p.0?(8)|p.L348F(4)|p.L348_E349>F*(2)|p.E349fs*21(2)|p.?(1)|p.I332fs*5(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)	TCCTTGAGTTCCAAGGCCTCAT	0.594		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		29	Substitution - Nonsense(11)|Whole gene deletion(8)|Substitution - Missense(4)|Deletion - Frameshift(3)|Complex - compound substitution(2)|Unknown(1)	p.0?(7)|p.E349*(5)|p.E349fs*21(2)|p.I332fs*5(1)|p.?(1)|p.0?(7)|p.L348F(2)|p.L348*(2)|p.L348fs*22(1)|p.L348fs*0(1)|p.?(1)|p.I332fs*5(1)	lung(9)|bone(4)|central_nervous_system(3)|large_intestine(2)|haematopoietic_and_lymphoid_tissue(2)|liver(2)|skin(2)|ovary(2)|stomach(1)|urinary_tract(1)|breast(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						c.(1045-1047)GAA>TAA|c.(1042-1044)TTG>TTT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				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.chr17:7573982C>A|g.chr17:7573983C>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.1044_1045delinsAA	17.37:g.7573982_7573983delinsAA	ENSP00000269305:p.L348_E349delinsF*	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_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.E217*|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.E349*|TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.L216F|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.L348F	p.E349*|p.L348F	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1239|1238	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	349|348		E -> D (in a sporadic cancer; somatic mutation).|L -> S (in a sporadic cancer; somatic mutation).|L -> F (in a sporadic cancer; somatic mutation).	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Nuclear export signal.|Interaction with HIPK2.		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|Missense_Mutation	SNP	ENST00000269305.4	37	c.1045G>T|c.1044G>T	CCDS11118.1																																																																																				PASS	0.594	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	11	12	11	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10352030	10352030	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr17:10352030C>T	ENST00000255381.2	-	32	4546	c.4436G>A	c.(4435-4437)cGt>cAt	p.R1479H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1479					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.R1479H(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTGAGAGAACGCGACTCCTT	0.448																																						uc002gmn.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(4435-4437)CGT>CAT		myosin, heavy polypeptide 4, skeletal muscle							95.0	96.0	96.0					17																	10352030		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10352030C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4436G>A	17.37:g.10352030C>T	ENSP00000255381:p.Arg1479His					uc002gml.1_Intron	p.R1479H	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			32	4547	-			1479			Potential.			Missense_Mutation	SNP	ENST00000255381.2	37	c.4436G>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073553	0.76415	.	.	ENSG00000141048	ENST00000255381	D	0.83755	-1.76	4.97	4.97	0.65823	Myosin tail (1);	0.000000	0.33916	U	0.004439	D	0.89022	0.6597	M	0.88241	2.94	0.54753	D	0.999983	P	0.47677	0.899	P	0.47673	0.554	D	0.91614	0.5305	10	0.87932	D	0	.	18.5711	0.91136	0.0:1.0:0.0:0.0	.	1479	Q9Y623	MYH4_HUMAN	H	1479	ENSP00000255381:R1479H	ENSP00000255381:R1479H	R	-	2	0	MYH4	10292755	0.942000	0.31987	0.980000	0.43619	0.988000	0.76386	4.935000	0.63498	2.480000	0.83734	0.561000	0.74099	CGT		PASS	0.448	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		6	38	6	38	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10442558	10442558	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr17:10442558G>C	ENST00000245503.5	-	14	1764	c.1380C>G	c.(1378-1380)atC>atG	p.I460M	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.I460M|MYH2_ENST00000397183.2_Missense_Mutation_p.I460M|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	460	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.I460M(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCAAGACCCCGATGAAGTACT	0.478																																						uc010coi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(1378-1380)ATC>ATG		myosin heavy chain IIa							154.0	150.0	151.0					17																	10442558		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10442558G>C		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1380C>G	17.37:g.10442558G>C	ENSP00000245503:p.Ile460Met					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.I460M|MYH2_uc010coj.2_Missense_Mutation_p.I460M	p.I460M	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			14	1508	-			460			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.1380C>G	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347276	0.61183	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	T;T;T	0.79141	-1.24;-1.24;-1.24	5.43	-3.58	0.04597	Myosin head, motor domain (3);	0.000000	0.39759	U	0.001266	D	0.86843	0.6030	M	0.92604	3.325	0.42377	D	0.992479	D;D	0.76494	0.993;0.999	D;D	0.97110	0.998;1.0	D	0.84581	0.0661	10	0.87932	D	0	.	7.5385	0.27725	0.4855:0.0:0.4067:0.1079	.	460;460	Q567P6;Q9UKX2	.;MYH2_HUMAN	M	460	ENSP00000433944:I460M;ENSP00000245503:I460M;ENSP00000380367:I460M	ENSP00000245503:I460M	I	-	3	3	MYH2	10383283	0.781000	0.28676	0.981000	0.43875	0.960000	0.62799	0.061000	0.14366	-0.455000	0.07054	-0.941000	0.02677	ATC		PASS	0.478	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		49	71	49	71	---	---	---	---
SEZ6	124925	broad.mit.edu	37	17	27285076	27285076	+	Missense_Mutation	SNP	C	C	T	rs139179377	byFrequency	TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr17:27285076C>T	ENST00000317338.12	-	11	2619	c.2191G>A	c.(2191-2193)Ggc>Agc	p.G731S	SEZ6_ENST00000442608.3_Missense_Mutation_p.G731S|SEZ6_ENST00000335960.6_Intron|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.G731S			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	731	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.G731S(1)|p.G731C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			ACCACGGTGCCGTGCACTAGC	0.612													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20693	0.0		0.0	False		,,,				2504	0.0					uc002hdp.2																			2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(2191-2193)GGC>AGC		seizure related 6 homolog isoform 1		C	SER/GLY,SER/GLY	0,4174		0,0,2087	84.0	85.0	85.0		2191,2191	5.1	1.0	17	dbSNP_134	85	2,8416		0,2,4207	yes	missense,missense	SEZ6	NM_001098635.1,NM_178860.4	56,56	0,2,6294	TT,TC,CC		0.0238,0.0,0.0159	probably-damaging,probably-damaging	731/994,731/995	27285076	2,12590	2087	4209	6296	SO:0001583	missense	124925					integral to membrane|plasma membrane		g.chr17:27285076C>T	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.2191G>A	17.37:g.27285076C>T	ENSP00000312942:p.Gly731Ser					SEZ6_uc010crx.1_5'Flank|SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.G731S|SEZ6_uc002hdq.1_Missense_Mutation_p.G606S	p.G731S	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		11	2385	-	Lung NSC(42;0.0137)		731			Extracellular (Potential).|Sushi 3.		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	c.2191G>A	CCDS45639.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	34	5.342068	0.95783	0.0	2.38E-4	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000541381	T;T	0.72394	-0.65;-0.65	5.07	5.07	0.68467	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.86029	0.5835	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88471	0.3062	10	0.87932	D	0	.	16.3161	0.82928	0.0:1.0:0.0:0.0	.	731;731	Q53EL9-3;Q53EL9	.;SEZ6_HUMAN	S	731;731;606;731	ENSP00000403784:G731S;ENSP00000353440:G731S	ENSP00000312942:G606S	G	-	1	0	SEZ6	24309202	1.000000	0.71417	0.954000	0.39281	0.907000	0.53573	7.487000	0.81328	2.531000	0.85337	0.462000	0.41574	GGC		PASS	0.612	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			11	62	11	62	---	---	---	---
ADAM11	4185	broad.mit.edu	37	17	42848951	42848951	+	Splice_Site	SNP	G	G	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr17:42848951G>A	ENST00000200557.6	+	5	550		c.e5-1		ADAM11_ENST00000535346.1_Splice_Site	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11						integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.?(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				TGCTCCTTCAGGGGGCTGGAG	0.647																																						uc002ihh.2																			2	Unknown(2)		lung(2)	pancreas(1)	1						c.e5-1		ADAM metallopeptidase domain 11 preproprotein							51.0	56.0	54.0					17																	42848951		2201	4300	6501	SO:0001630	splice_region_variant	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42848951G>A	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.382-1G>A	17.37:g.42848951G>A						ADAM11_uc010wjd.1_Splice_Site	p.G128_splice	NM_002390	NP_002381	O75078	ADA11_HUMAN			5	382	+		Prostate(33;0.0959)						Q14808|Q14809|Q14810	Splice_Site	SNP	ENST00000200557.6	37	c.382_splice	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662939	0.67700	.	.	ENSG00000073670	ENST00000200557;ENST00000355638	.	.	.	4.83	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9162	0.35583	0.1036:0.0:0.8964:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAM11	40204477	1.000000	0.71417	0.928000	0.36995	0.931000	0.56810	7.697000	0.84279	1.039000	0.40074	0.561000	0.74099	.		PASS	0.647	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390	Intron	27	61	27	61	---	---	---	---
MPO	4353	broad.mit.edu	37	17	56355373	56355373	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr17:56355373C>G	ENST00000225275.3	-	7	1195	c.1019G>C	c.(1018-1020)aGc>aCc	p.S340T	MPO_ENST00000578493.1_5'UTR|MPO_ENST00000340482.3_Missense_Mutation_p.S372T	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	340					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.S340T(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	GTACACCATGCTGGCGTCCAC	0.647																																						uc002ivu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(1018-1020)AGC>ACC		myeloperoxidase	Cefdinir(DB00535)						98.0	85.0	90.0					17																	56355373		2203	4300	6503	SO:0001583	missense	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56355373C>G		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1019G>C	17.37:g.56355373C>G	ENSP00000225275:p.Ser340Thr						p.S340T	NM_000250	NP_000241	P05164	PERM_HUMAN			7	1196	-			340				Calcium.	A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.1019G>C	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643056	0.87859	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	D;D	0.81659	-1.52;-1.52	5.32	5.32	0.75619	.	0.041260	0.85682	D	0.000000	D	0.92260	0.7545	M	0.92970	3.365	0.46609	D	0.999128	D	0.71674	0.998	D	0.91635	0.999	D	0.93924	0.7208	10	0.87932	D	0	-44.7662	18.0012	0.89198	0.0:1.0:0.0:0.0	.	340	P05164	PERM_HUMAN	T	372;340	ENSP00000344419:S372T;ENSP00000225275:S340T	ENSP00000225275:S340T	S	-	2	0	MPO	53710372	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.954000	0.56708	2.518000	0.84900	0.561000	0.74099	AGC		PASS	0.647	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			6	80	6	80	---	---	---	---
TRIM37	4591	broad.mit.edu	37	17	57158532	57158532	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr17:57158532C>A	ENST00000262294.7	-	6	677	c.418G>T	c.(418-420)Gtc>Ttc	p.V140F	TRIM37_ENST00000376149.3_Missense_Mutation_p.V18F|TRIM37_ENST00000393066.3_Missense_Mutation_p.V140F|TRIM37_ENST00000393065.2_Missense_Mutation_p.V106F	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	140					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V140F(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ACTTTAGTGACGTGTTGCTCA	0.368									Mulibrey Nanism																													uc002iwy.3																			1	Substitution - Missense(1)		lung(1)	lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7						c.(418-420)GTC>TTC		tripartite motif-containing 37 protein							116.0	114.0	114.0					17																	57158532		2203	4300	6503	SO:0001583	missense	4591	Mulibrey_Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57158532C>A	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.418G>T	17.37:g.57158532C>A	ENSP00000262294:p.Val140Phe					TRIM37_uc002iwz.3_Missense_Mutation_p.V140F|TRIM37_uc002ixa.3_Missense_Mutation_p.V18F|TRIM37_uc010woc.1_Missense_Mutation_p.V106F	p.V140F	NM_001005207	NP_001005207	O94972	TRI37_HUMAN			6	862	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		140			Potential.		Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	c.418G>T	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	C	34	5.292134	0.95546	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.69306	0.42;0.42;-0.39;0.42	5.62	5.62	0.85841	B-box, C-terminal (1);	0.000000	0.64402	D	0.000003	T	0.82231	0.4992	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;P	0.91635	0.983;0.999;0.855	T	0.83227	-0.0065	10	0.62326	D	0.03	-41.8309	18.2379	0.89956	0.0:1.0:0.0:0.0	.	106;18;140	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	F	140;140;18;106	ENSP00000376785:V140F;ENSP00000262294:V140F;ENSP00000365319:V18F;ENSP00000376784:V106F	ENSP00000262294:V140F	V	-	1	0	TRIM37	54513314	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.647000	0.83462	2.661000	0.90470	0.650000	0.86243	GTC		PASS	0.368	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		24	71	24	71	---	---	---	---
USP36	57602	broad.mit.edu	37	17	76795011	76795011	+	Silent	SNP	G	G	A	rs148007252		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr17:76795011G>A	ENST00000542802.3	-	19	3662	c.3219C>T	c.(3217-3219)gaC>gaT	p.D1073D	USP36_ENST00000312010.6_Silent_p.D1073D|USP36_ENST00000449938.2_Silent_p.D678D			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	1071					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.D1073D(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CAAACTCTTCGTCCCAGTCAT	0.587																																						uc002jvz.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)|breast(1)|kidney(1)	5						c.(3217-3219)GAC>GAT		ubiquitin specific peptidase 36		G		1,4405	2.1+/-5.4	0,1,2202	332.0	254.0	280.0		3219	-6.3	0.5	17	dbSNP_134	280	0,8600		0,0,4300	no	coding-synonymous	USP36	NM_025090.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1073/1124	76795011	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76795011G>A	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.3219C>T	17.37:g.76795011G>A						USP36_uc002jwa.1_Silent_p.D1073D|USP36_uc002jvy.1_Silent_p.D133D	p.D1073D	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		19	3544	-			1071					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Silent	SNP	ENST00000542802.3	37	c.3219C>T	CCDS32755.1																																																																																				PASS	0.587	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		16	130	16	130	---	---	---	---
LINC00482	284185	broad.mit.edu	37	17	79279081	79279081	+	lincRNA	SNP	C	C	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr17:79279081C>T	ENST00000332012.5	-	0	512					NR_038080.1		Q8N8I6	CQ055_HUMAN	long intergenic non-protein coding RNA 482									p.R28R(1)									GATGAGCTGCCCTGTACCATG	0.672																																						uc002kac.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(82-84)AGG>AGA		hypothetical protein LOC284185							7.0	7.0	7.0					17																	79279081		1975	4018	5993			284185							g.chr17:79279081C>T	AK096740		17q25.3	2012-10-12	2011-09-01	2011-09-01	ENSG00000185168	ENSG00000185168		"""Long non-coding RNAs"""	26816	non-coding RNA	RNA, long non-coding			"""chromosome 17 open reading frame 55"""	C17orf55			Standard	NR_038080		Approved	FLJ39421	uc002kac.1	Q8N8I6			17.37:g.79279081C>T							p.R28R	NM_178519	NP_848614			BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		4	513	-	all_neural(118;0.0804)|Melanoma(429;0.242)								Silent	SNP	ENST00000332012.5	37	c.84G>A																																																																																					PASS	0.672	LINC00482-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000439605.1	NM_178519		3	9	3	9	---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5397253	5397253	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr18:5397253G>T	ENST00000341928.2	-	18	2985	c.2645C>A	c.(2644-2646)gCa>gAa	p.A882E	EPB41L3_ENST00000427684.2_Missense_Mutation_p.A179E|EPB41L3_ENST00000400111.3_Missense_Mutation_p.A660E|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.A713E|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A882E|EPB41L3_ENST00000540638.2_Missense_Mutation_p.A660E|EPB41L3_ENST00000542146.1_Missense_Mutation_p.A187E	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	882	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.A882E(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGCGGGCTGTGCTGCAGCATC	0.612																																						uc002kmt.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(2644-2646)GCA>GAA		erythrocyte membrane protein band 4.1-like 3							89.0	77.0	81.0					18																	5397253		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5397253G>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2645C>A	18.37:g.5397253G>T	ENSP00000343158:p.Ala882Glu					EPB41L3_uc010wzh.1_Missense_Mutation_p.A713E|EPB41L3_uc002kmu.1_Missense_Mutation_p.A660E|EPB41L3_uc010dkq.1_Missense_Mutation_p.A551E|EPB41L3_uc002kms.1_Missense_Mutation_p.A117E|EPB41L3_uc010wze.1_Missense_Mutation_p.A187E|EPB41L3_uc010wzf.1_Missense_Mutation_p.A179E|EPB41L3_uc010wzg.1_Missense_Mutation_p.A154E|EPB41L3_uc010dkr.2_Missense_Mutation_p.A274E	p.A882E	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			18	2731	-			882			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2645C>A	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	3.284	-0.146491	0.06627	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.73	1.82	0.25136	.	2.044370	0.01726	N	0.028594	T	0.28267	0.0698	N	0.17474	0.49	0.09310	N	1	B;P;B;B;B;B;B;B	0.35433	0.0;0.501;0.0;0.001;0.0;0.001;0.0;0.002	B;B;B;B;B;B;B;B	0.35550	0.003;0.205;0.007;0.003;0.001;0.005;0.003;0.002	T	0.16247	-1.0409	10	0.19147	T	0.46	.	6.0818	0.19944	0.0927:0.1145:0.6684:0.1245	.	713;179;187;274;551;660;882;117	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	E	882;551;713;551;179;187;882;660	ENSP00000343158:A882E;ENSP00000441174:A713E;ENSP00000392195:A179E;ENSP00000442233:A187E;ENSP00000341138:A882E;ENSP00000382981:A660E	ENSP00000343158:A882E	A	-	2	0	EPB41L3	5387253	0.010000	0.17322	0.000000	0.03702	0.044000	0.14063	1.103000	0.31062	0.040000	0.15660	0.591000	0.81541	GCA		PASS	0.612	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		20	60	20	60	---	---	---	---
NPC1	4864	broad.mit.edu	37	18	21115532	21115532	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr18:21115532G>C	ENST00000269228.5	-	22	3932	c.3378C>G	c.(3376-3378)atC>atG	p.I1126M	NPC1_ENST00000412552.2_Missense_Mutation_p.I808M	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1126					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)	p.I1126M(1)		breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGGCACACATGATGACTGCAG	0.537																																						uc002kum.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3376-3378)ATC>ATG		Niemann-Pick disease, type C1 precursor							206.0	158.0	174.0					18																	21115532		2203	4300	6503	SO:0001583	missense	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21115532G>C	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.3378C>G	18.37:g.21115532G>C	ENSP00000269228:p.Ile1126Met					NPC1_uc010dlu.1_5'Flank|NPC1_uc010xaz.1_Missense_Mutation_p.I859M	p.I1126M	NM_000271	NP_000262	O15118	NPC1_HUMAN			22	3652	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		1126			Helical; (Potential).		B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	c.3378C>G	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931243	0.34096	.	.	ENSG00000141458	ENST00000269228;ENST00000412552	D;D	0.85702	-2.02;-2.02	5.88	4.0	0.46444	.	0.529823	0.21708	N	0.070318	D	0.87585	0.6214	L	0.58302	1.8	0.32838	D	0.505032	P;P	0.39250	0.665;0.665	P;P	0.54174	0.595;0.744	D	0.89855	0.4012	10	0.87932	D	0	-22.596	7.7639	0.28968	0.1487:0.2191:0.6323:0.0	.	1137;1126	Q59GR1;O15118	.;NPC1_HUMAN	M	1126;808	ENSP00000269228:I1126M;ENSP00000408606:I808M	ENSP00000269228:I1126M	I	-	3	3	NPC1	19369530	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	0.780000	0.26760	1.485000	0.48380	0.655000	0.94253	ATC		PASS	0.537	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		17	20	17	20	---	---	---	---
GAREM	64762	broad.mit.edu	37	18	29848546	29848546	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr18:29848546C>A	ENST00000269209.6	-	6	1922	c.1919G>T	c.(1918-1920)aGt>aTt	p.S640I	GAREM_ENST00000399218.4_Missense_Mutation_p.S639I			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	640					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.S639I(1)									CAGGAAGTCACTCCTGGTCTG	0.502																																						uc002kxl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1918-1920)AGT>ATT		family with sequence similarity 59, member A							72.0	72.0	72.0					18																	29848546		2203	4300	6503	SO:0001583	missense	64762							g.chr18:29848546C>A	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1919G>T	18.37:g.29848546C>A	ENSP00000269209:p.Ser640Ile					FAM59A_uc002kxk.1_Missense_Mutation_p.S639I	p.S640I	NM_022751	NP_073588	Q9H706	FA59A_HUMAN			6	1975	-			640					Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	c.1919G>T	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361110	0.24684	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.14766	2.48;2.48	5.73	1.45	0.22620	.	0.346315	0.35585	N	0.003103	T	0.09774	0.0240	N	0.24115	0.695	0.09310	N	0.999999	P;P	0.41569	0.641;0.755	B;B	0.41088	0.133;0.347	T	0.16129	-1.0413	10	0.48119	T	0.1	-4.2803	10.4087	0.44280	0.0:0.6309:0.0:0.3691	.	640;639	Q9H706;Q9H706-3	FA59A_HUMAN;.	I	639;640	ENSP00000382165:S639I;ENSP00000269209:S640I	ENSP00000269209:S640I	S	-	2	0	FAM59A	28102544	0.078000	0.21339	0.132000	0.22025	0.943000	0.58893	0.745000	0.26259	0.374000	0.24650	-0.142000	0.14014	AGT		PASS	0.502	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		12	23	12	23	---	---	---	---
LIPG	9388	broad.mit.edu	37	18	47107969	47107969	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr18:47107969G>T	ENST00000261292.4	+	6	1256	c.978G>T	c.(976-978)atG>atT	p.M326I	LIPG_ENST00000580036.1_Missense_Mutation_p.M326I|LIPG_ENST00000427224.2_Missense_Mutation_p.M252I|LIPG_ENST00000577628.1_Missense_Mutation_p.M362I	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	326	Heparin-binding. {ECO:0000250}.				cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)	p.M326I(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CCAAGAAAATGAGGAACAAGA	0.493																																					Pancreas(126;280 1778 12814 26243 34948)	uc002ldv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(976-978)ATG>ATT		endothelial lipase precursor							117.0	119.0	118.0					18																	47107969		2203	4300	6503	SO:0001583	missense	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47107969G>T	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.978G>T	18.37:g.47107969G>T	ENSP00000261292:p.Met326Ile					LIPG_uc002ldu.1_Missense_Mutation_p.M326I|LIPG_uc010xdh.1_Missense_Mutation_p.M252I	p.M326I	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN			6	1230	+			326			Heparin-binding (By similarity).		B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	c.978G>T	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987531	0.35036	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.89617	-2.54;-2.54	5.79	0.556	0.17253	Lipase, N-terminal (1);	0.390956	0.35646	N	0.003074	T	0.75019	0.3793	N	0.12569	0.235	0.31012	N	0.719163	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.16289	0.015;0.009;0.005	T	0.66160	-0.5993	10	0.33141	T	0.24	-16.1342	7.8581	0.29493	0.2543:0.2918:0.4539:0.0	.	252;326;326	B4DTR8;Q9Y5X9;Q9Y5X9-2	.;LIPE_HUMAN;.	I	326;252	ENSP00000261292:M326I;ENSP00000387978:M252I	ENSP00000261292:M326I	M	+	3	0	LIPG	45361967	0.989000	0.36119	0.415000	0.26534	0.889000	0.51656	0.190000	0.17057	0.361000	0.24292	0.561000	0.74099	ATG		PASS	0.493	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		50	81	50	81	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56246130	56246130	+	Silent	SNP	G	G	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr18:56246130G>A	ENST00000361673.3	-	4	2091	c.1878C>T	c.(1876-1878)ggC>ggT	p.G626G	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	626						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G626G(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AATTTGTGTTGCCTTCTTTGG	0.438											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002lhj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(1876-1878)GGC>GGT		heart alpha-kinase							203.0	190.0	194.0					18																	56246130		2203	4300	6503	SO:0001819	synonymous_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246130G>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1878C>T	18.37:g.56246130G>A			OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014		p.G626G	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			4	2092	-			626					Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	c.1878C>T	CCDS11966.2																																																																																				PASS	0.438	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		13	76	13	76	---	---	---	---
CCDC102B	79839	broad.mit.edu	37	18	66504606	66504606	+	Splice_Site	SNP	G	G	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr18:66504606G>A	ENST00000360242.5	+	2	723	c.606G>A	c.(604-606)aaG>aaA	p.K202K	CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Splice_Site_p.K202K|CCDC102B_ENST00000319445.6_Splice_Site_p.K202K|CCDC102B_ENST00000584156.1_Splice_Site_p.K202K	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	202								p.K202K(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				CAAATAATAAGGTAAGAAAAA	0.343																																						uc002lkk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(604-606)AAG>AAA		coiled-coil domain containing 102B							71.0	71.0	71.0					18																	66504606		1818	4069	5887	SO:0001630	splice_region_variant	79839							g.chr18:66504606G>A	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.606+1G>A	18.37:g.66504606G>A						CCDC102B_uc002lki.2_Silent_p.K202K|CCDC102B_uc002lkj.1_Silent_p.K202K	p.K202K	NM_001093729	NP_001087198	Q68D86	C102B_HUMAN			4	829	+		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)	202					Q7Z467|Q8NDK7|Q9H5C1	Silent	SNP	ENST00000360242.5	37	c.606G>A	CCDS11996.2																																																																																				PASS	0.343	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781	Silent	10	80	10	80	---	---	---	---
ZNF407	55628	broad.mit.edu	37	18	72346027	72346027	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr18:72346027A>T	ENST00000299687.5	+	1	3052	c.3052A>T	c.(3052-3054)Aag>Tag	p.K1018*	ZNF407_ENST00000577538.1_Nonsense_Mutation_p.K1018*|ZNF407_ENST00000582337.1_Nonsense_Mutation_p.K1018*|ZNF407_ENST00000309902.6_Nonsense_Mutation_p.K1018*	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1018					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K1018*(2)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGGTGAGAATAAGTGTTTGCA	0.448																																						uc002llw.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(3052-3054)AAG>TAG		zinc finger protein 407 isoform 1							106.0	106.0	106.0					18																	72346027		1986	4190	6176	SO:0001587	stop_gained	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72346027A>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.3052A>T	18.37:g.72346027A>T	ENSP00000299687:p.Lys1018*					ZNF407_uc010xfc.1_Nonsense_Mutation_p.K1018*|ZNF407_uc010dqu.1_Nonsense_Mutation_p.K1018*|ZNF407_uc002llu.2_Nonsense_Mutation_p.K1017*	p.K1018*	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	3109	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1018			C2H2-type 10.		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Nonsense_Mutation	SNP	ENST00000299687.5	37	c.3052A>T	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	A	38	7.052796	0.98029	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	.	.	.	6.03	4.85	0.62838	.	0.143577	0.48767	D	0.000174	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3764	0.60741	0.8686:0.1314:0.0:0.0	.	.	.	.	X	1018	.	ENSP00000299687:K1018X	K	+	1	0	ZNF407	70475015	0.793000	0.28825	0.002000	0.10522	0.109000	0.19521	3.799000	0.55529	0.528000	0.28580	0.455000	0.32223	AAG		PASS	0.448	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		39	74	39	74	---	---	---	---
CATSPERD	257062	broad.mit.edu	37	19	5776198	5776198	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr19:5776198C>A	ENST00000381624.3	+	21	2029	c.1968C>A	c.(1966-1968)aaC>aaA	p.N656K	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	656					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)		p.N656K(1)									ACGACCCCAACAACAATGCCC	0.592																																						uc002mda.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1966-1968)AAC>AAA		transmembrane protein 146 precursor							90.0	94.0	92.0					19																	5776198		1948	4132	6080	SO:0001583	missense	257062					integral to membrane		g.chr19:5776198C>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1968C>A	19.37:g.5776198C>A	ENSP00000371037:p.Asn656Lys						p.N656K	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			21	2029	+			656			Extracellular (Potential).		Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.1968C>A	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210865	0.39102	.	.	ENSG00000174898	ENST00000381624;ENST00000381613;ENST00000448307	T	0.24350	1.86	4.13	1.93	0.25924	.	1.727610	0.03358	N	0.197135	T	0.39682	0.1087	L	0.48642	1.525	0.09310	N	1	D	0.69078	0.997	D	0.63283	0.913	T	0.09574	-1.0668	10	0.37606	T	0.19	-12.381	4.9238	0.13883	0.2094:0.6792:0.0:0.1113	.	656	Q86XM0	TM146_HUMAN	K	656;325;25	ENSP00000371037:N656K	ENSP00000371026:N325K	N	+	3	2	TMEM146	5727198	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.114000	0.10757	0.495000	0.27882	-0.500000	0.04577	AAC		PASS	0.592	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		10	36	10	36	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9046849	9046849	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr19:9046849G>T	ENST00000397910.4	-	5	34985	c.34782C>A	c.(34780-34782)aaC>aaA	p.N11594K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11596	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.N7227K(2)|p.N11594K(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TATGGGAAAAGTTGGGAATTG	0.517																																						uc002mkp.2																			4	Substitution - Missense(4)		lung(4)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(34780-34782)AAC>AAA		mucin 16							133.0	130.0	131.0					19																	9046849		1962	4157	6119	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9046849G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34782C>A	19.37:g.9046849G>T	ENSP00000381008:p.Asn11594Lys						p.N11594K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	34986	-			11596			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.34782C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.296	-0.361304	0.05103	.	.	ENSG00000181143	ENST00000397910	T	0.02050	4.48	2.05	-4.1	0.03940	.	.	.	.	.	T	0.02047	0.0064	L	0.48642	1.525	.	.	.	B	0.06786	0.001	B	0.04013	0.001	T	0.46275	-0.9203	8	0.87932	D	0	.	0.7937	0.01062	0.1999:0.3332:0.1356:0.3312	.	11594	B5ME49	.	K	11594	ENSP00000381008:N11594K	ENSP00000381008:N11594K	N	-	3	2	MUC16	8907849	0.004000	0.15560	0.000000	0.03702	0.016000	0.09150	-0.015000	0.12634	-1.899000	0.01098	-1.086000	0.02197	AAC		PASS	0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	49	6	49	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9075949	9075949	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr19:9075949C>G	ENST00000397910.4	-	3	11700	c.11497G>C	c.(11497-11499)Gca>Cca	p.A3833P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3834	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.A3833P(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGTTGTTGCTGCTGATCTG	0.502																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(11497-11499)GCA>CCA		mucin 16							190.0	177.0	181.0					19																	9075949		2057	4202	6259	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9075949C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11497G>C	19.37:g.9075949C>G	ENSP00000381008:p.Ala3833Pro						p.A3833P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	11701	-			3834			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.11497G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	6.013	0.370789	0.11409	.	.	ENSG00000181143	ENST00000397910	T	0.02863	4.13	1.55	-3.1	0.05315	.	.	.	.	.	T	0.01353	0.0044	N	0.08118	0	.	.	.	B	0.23540	0.087	B	0.12837	0.008	T	0.46176	-0.9210	8	0.87932	D	0	.	0.2201	0.00167	0.2059:0.2597:0.2047:0.3297	.	3833	B5ME49	.	P	3833	ENSP00000381008:A3833P	ENSP00000381008:A3833P	A	-	1	0	MUC16	8936949	0.000000	0.05858	0.000000	0.03702	0.474000	0.32979	-0.676000	0.05221	-1.436000	0.01970	0.205000	0.17691	GCA		PASS	0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		15	94	15	94	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9084683	9084683	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr19:9084683T>C	ENST00000397910.4	-	1	7335	c.7132A>G	c.(7132-7134)Ata>Gta	p.I2378V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2378	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.I2378V(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGAAGCTATGGAGGTGTTG	0.438																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(7132-7134)ATA>GTA		mucin 16							131.0	127.0	128.0					19																	9084683		1950	4155	6105	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9084683T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.7132A>G	19.37:g.9084683T>C	ENSP00000381008:p.Ile2378Val						p.I2378V	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	7336	-			2378			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.7132A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	1.985	-0.433252	0.04669	.	.	ENSG00000181143	ENST00000397910	T	0.02236	4.38	0.225	0.225	0.15325	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	.	.	.	B	0.19935	0.04	B	0.08055	0.003	T	0.36817	-0.9732	7	0.87932	D	0	.	.	.	.	.	2378	B5ME49	.	V	2378	ENSP00000381008:I2378V	ENSP00000381008:I2378V	I	-	1	0	MUC16	8945683	0.002000	0.14202	0.129000	0.21949	0.131000	0.20780	-0.250000	0.08830	0.257000	0.21650	0.254000	0.18369	ATA		PASS	0.438	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		18	38	18	38	---	---	---	---
OR7D2	162998	broad.mit.edu	37	19	9297245	9297245	+	Missense_Mutation	SNP	C	C	T	rs201184916		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr19:9297245C>T	ENST00000344248.2	+	1	967	c.788C>T	c.(787-789)gCg>gTg	p.A263V		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	263					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A263V(1)		breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TTCACTTCTGCGGTGACTCAC	0.507																																						uc002mkz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(787-789)GCG>GTG		olfactory receptor, family 7, subfamily D,							90.0	80.0	83.0					19																	9297245		2203	4300	6503	SO:0001583	missense	162998				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9297245C>T	AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.788C>T	19.37:g.9297245C>T	ENSP00000345563:p.Ala263Val						p.A263V	NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN			1	976	+			263			Extracellular (Potential).		Q6IFJ7|Q8N133	Missense_Mutation	SNP	ENST00000344248.2	37	c.788C>T	CCDS32900.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401737	0.25291	.	.	ENSG00000188000	ENST00000344248	T	0.00152	8.66	2.21	1.17	0.20885	GPCR, rhodopsin-like superfamily (1);	0.385589	0.18737	N	0.132553	T	0.00178	0.0005	L	0.50919	1.6	0.09310	N	1	B	0.26258	0.145	B	0.35413	0.202	T	0.22906	-1.0203	10	0.66056	D	0.02	.	5.5954	0.17323	0.0:0.7124:0.0:0.2876	.	263	Q96RA2	OR7D2_HUMAN	V	263	ENSP00000345563:A263V	ENSP00000345563:A263V	A	+	2	0	OR7D2	9158245	0.000000	0.05858	0.007000	0.13788	0.002000	0.02628	-0.684000	0.05173	0.518000	0.28383	0.511000	0.50034	GCG		PASS	0.507	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			7	67	7	67	---	---	---	---
COL5A3	50509	broad.mit.edu	37	19	10071197	10071197	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr19:10071197T>A	ENST00000264828.3	-	67	5213	c.5128A>T	c.(5128-5130)Agc>Tgc	p.S1710C		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1710	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.S1710C(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CGAGAAGAGCTGAATTCGAAA	0.572																																						uc002mmq.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.(5128-5130)AGC>TGC		collagen, type V, alpha 3 preproprotein							92.0	101.0	98.0					19																	10071197		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10071197T>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.5128A>T	19.37:g.10071197T>A	ENSP00000264828:p.Ser1710Cys						p.S1710C	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		67	5214	-			1710			Fibrillar collagen NC1.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.5128A>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	T	10.04	1.241535	0.22711	.	.	ENSG00000080573	ENST00000264828	T	0.74209	-0.82	4.03	1.66	0.24008	Fibrillar collagen, C-terminal (4);	0.452714	0.21671	U	0.070880	T	0.73164	0.3552	L	0.59436	1.845	0.09310	N	1	P	0.44090	0.826	P	0.47744	0.556	T	0.65265	-0.6210	10	0.72032	D	0.01	.	9.0997	0.36660	0.0:0.0:0.3692:0.6308	.	1710	P25940	CO5A3_HUMAN	C	1710	ENSP00000264828:S1710C	ENSP00000264828:S1710C	S	-	1	0	COL5A3	9932197	0.001000	0.12720	0.428000	0.26697	0.436000	0.31835	0.591000	0.23969	0.575000	0.29434	0.379000	0.24179	AGC		PASS	0.572	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		24	57	24	57	---	---	---	---
RGL3	57139	broad.mit.edu	37	19	11527293	11527293	+	Silent	SNP	G	G	A	rs201400075		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr19:11527293G>A	ENST00000380456.3	-	4	483	c.420C>T	c.(418-420)aaC>aaT	p.N140N	RGL3_ENST00000393423.3_Silent_p.N140N	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	140	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.N140N(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CCCACCTCAGGTTCTTGTTGA	0.542																																					GBM(174;751 2067 17998 27979 33959)	uc002mrp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(418-420)AAC>AAT		ral guanine nucleotide dissociation							125.0	116.0	119.0					19																	11527293		2203	4300	6503	SO:0001819	synonymous_variant	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11527293G>A	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.420C>T	19.37:g.11527293G>A						RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mro.2_Silent_p.N140N|RGL3_uc002mrq.2_3'UTR	p.N140N	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN			4	484	-			140			N-terminal Ras-GEF.		B5ME84|B7ZL22|Q0P6G0	Silent	SNP	ENST00000380456.3	37	c.420C>T	CCDS32910.1																																																																																				PASS	0.542	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		24	85	24	85	---	---	---	---
SLC1A6	6511	broad.mit.edu	37	19	15061032	15061032	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr19:15061032C>T	ENST00000221742.3	-	9	1677	c.1670G>A	c.(1669-1671)cGg>cAg	p.R557Q	SLC1A6_ENST00000600144.1_Missense_Mutation_p.R479Q|SLC1A6_ENST00000430939.2_Missense_Mutation_p.R493Q	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	557					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.R557Q(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GTTGCCTCCCCGTCCCCGGGA	0.652																																						uc002naa.1																			1	Substitution - Missense(1)		lung(1)	pancreas(3)|ovary(2)|skin(1)	6						c.(1669-1671)CGG>CAG		solute carrier family 1 (high affinity	L-Glutamic Acid(DB00142)						31.0	27.0	28.0					19																	15061032		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15061032C>T		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1670G>A	19.37:g.15061032C>T	ENSP00000221742:p.Arg557Gln					SLC1A6_uc010dzu.1_Missense_Mutation_p.R479Q|SLC1A6_uc010xod.1_Missense_Mutation_p.R493Q	p.R557Q	NM_005071	NP_005062	P48664	EAA4_HUMAN			9	1678	-			557					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.1670G>A	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	c	17.75	3.466890	0.63625	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.73789	-0.78;0.46	5.23	5.23	0.72850	.	0.350237	0.29126	N	0.013062	T	0.55768	0.1941	N	0.08118	0	0.80722	D	1	D;D	0.60160	0.987;0.972	P;B	0.47573	0.55;0.222	T	0.54323	-0.8311	10	0.11485	T	0.65	-22.9876	9.8461	0.41028	0.0:0.9063:0.0:0.0937	.	493;557	E7EV13;P48664	.;EAA4_HUMAN	Q	493;557	ENSP00000409386:R493Q;ENSP00000221742:R557Q	ENSP00000221742:R557Q	R	-	2	0	SLC1A6	14922032	0.811000	0.29063	0.994000	0.49952	0.910000	0.53928	2.225000	0.42954	2.449000	0.82847	0.544000	0.68410	CGG		PASS	0.652	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		21	20	21	20	---	---	---	---
MRPL34	64981	broad.mit.edu	37	19	17417103	17417103	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr19:17417103G>C	ENST00000252602.1	+	2	419	c.194G>C	c.(193-195)gGc>gCc	p.G65A	MRPL34_ENST00000600434.1_Missense_Mutation_p.G65A|ABHD8_ENST00000247706.3_5'Flank|MRPL34_ENST00000602206.1_Missense_Mutation_p.A32P|MRPL34_ENST00000594999.1_Missense_Mutation_p.G65A|MRPL34_ENST00000595444.1_Missense_Mutation_p.G157A	NM_023937.3	NP_076426.1	Q9BQ48	RM34_HUMAN	mitochondrial ribosomal protein L34	65					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)	p.G65A(1)		endometrium(1)|lung(1)	2						AACAAGCACGGCTGGGTCCGG	0.667																																						uc002ngc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(193-195)GGC>GCC		mitochondrial ribosomal protein L34 precursor							9.0	14.0	12.0					19																	17417103		2171	4243	6414	SO:0001583	missense	64981				translation		structural constituent of ribosome	g.chr19:17417103G>C	AB049652	CCDS12356.1	19p13.1	2012-09-13						"""Mitochondrial ribosomal proteins / large subunits"""	14488	protein-coding gene	gene with protein product		611840				11543634	Standard	NM_023937		Approved	L34mt, MGC2633, MGC24974	uc002ngc.1	Q9BQ48		ENST00000252602.1:c.194G>C	19.37:g.17417103G>C	ENSP00000252602:p.Gly65Ala					ABHD8_uc002ngb.3_5'Flank	p.G65A	NM_023937	NP_076426	Q9BQ48	RM34_HUMAN			2	419	+			65						Missense_Mutation	SNP	ENST00000252602.1	37	c.194G>C	CCDS12356.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185272	0.78677	.	.	ENSG00000130312	ENST00000252602	.	.	.	5.44	5.44	0.79542	.	0.060613	0.64402	D	0.000004	T	0.80555	0.4645	.	.	.	0.53005	D	0.999961	D	0.89917	1.0	D	0.97110	1.0	T	0.83072	-0.0142	8	0.87932	D	0	-0.0346	16.7683	0.85529	0.0:0.0:1.0:0.0	.	65	Q9BQ48	RM34_HUMAN	A	65	.	ENSP00000252602:G65A	G	+	2	0	MRPL34	17278103	1.000000	0.71417	0.986000	0.45419	0.071000	0.16799	8.759000	0.91667	2.549000	0.85964	0.561000	0.74099	GGC		PASS	0.667	MRPL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463516.1	NM_023937		2	2	2	2	---	---	---	---
KXD1	79036	broad.mit.edu	37	19	18672950	18672950	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr19:18672950C>G	ENST00000602094.1	+	2	1544	c.84C>G	c.(82-84)atC>atG	p.I28M	KXD1_ENST00000601630.1_Missense_Mutation_p.I28M|AC005253.2_ENST00000597411.1_RNA|KXD1_ENST00000539106.1_Missense_Mutation_p.I28M|KXD1_ENST00000599319.1_Missense_Mutation_p.I28M|KXD1_ENST00000599000.1_Missense_Mutation_p.I28M|KXD1_ENST00000540691.1_Missense_Mutation_p.I28M|KXD1_ENST00000222307.4_Missense_Mutation_p.I28M|KXD1_ENST00000595073.1_Missense_Mutation_p.I28M|KXD1_ENST00000598830.1_Missense_Mutation_p.I28M			Q9BQD3	KXDL1_HUMAN	KxDL motif containing 1	28					vesicle-mediated transport (GO:0016192)	BLOC-1 complex (GO:0031083)		p.I28M(1)									ACGCCATCATCCTGGCCCAGA	0.617																																						uc002njo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(82-84)ATC>ATG		hypothetical protein LOC79036							44.0	36.0	39.0					19																	18672950		2203	4300	6503	SO:0001583	missense	79036						protein binding	g.chr19:18672950C>G	AK098346	CCDS12381.1	19p13.11	2011-11-24	2011-11-24	2011-11-24	ENSG00000105700	ENSG00000105700			28420	protein-coding gene	gene with protein product		615178	"""chromosome 19 open reading frame 50"""	C19orf50		21159114	Standard	NM_001171948		Approved	FLJ25480, MGC2749, KXDL	uc002njo.3	Q9BQD3		ENST00000602094.1:c.84C>G	19.37:g.18672950C>G	ENSP00000472836:p.Ile28Met					C19orf50_uc002njp.2_RNA|C19orf50_uc002njq.2_Missense_Mutation_p.I28M	p.I28M	NM_024069	NP_076974	Q9BQD3	CS050_HUMAN			2	226	+			28					O76098	Missense_Mutation	SNP	ENST00000602094.1	37	c.84C>G	CCDS12381.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374363	0.61735	.	.	ENSG00000105700	ENST00000540691;ENST00000539106;ENST00000222307	T;T;T	0.52754	0.65;0.65;0.65	5.4	0.448	0.16614	Uncharacterised domain KxDL (1);	0.054132	0.64402	D	0.000001	T	0.63248	0.2495	M	0.78049	2.395	0.58432	D	0.999997	D	0.71674	0.998	D	0.68943	0.961	T	0.65071	-0.6257	10	0.72032	D	0.01	-37.2154	10.1798	0.42961	0.0:0.6411:0.0:0.3589	.	28	Q9BQD3	CS050_HUMAN	M	28	ENSP00000443549:I28M;ENSP00000438903:I28M;ENSP00000222307:I28M	ENSP00000222307:I28M	I	+	3	3	C19orf50	18533950	0.997000	0.39634	1.000000	0.80357	0.970000	0.65996	0.410000	0.21098	0.257000	0.21650	-0.137000	0.14449	ATC		PASS	0.617	KXD1-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465107.1	NM_024069		4	19	4	19	---	---	---	---
KLHL26	55295	broad.mit.edu	37	19	18778681	18778681	+	Silent	SNP	G	G	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr19:18778681G>A	ENST00000300976.4	+	3	564	c.474G>A	c.(472-474)gcG>gcA	p.A158A	KLHL26_ENST00000596843.1_3'UTR|KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	158								p.A158A(1)		breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TCCTGAAGGCGGCCATGAGCG	0.647																																						uc002njz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(472-474)GCG>GCA		kelch-like 26							83.0	65.0	71.0					19																	18778681		2203	4299	6502	SO:0001819	synonymous_variant	55295							g.chr19:18778681G>A		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"""Kelch-like"", ""BTB/POZ domain containing"""	25623	protein-coding gene	gene with protein product			"""kelch-like 26 (Drosophila)"""				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.474G>A	19.37:g.18778681G>A							p.A158A	NM_018316	NP_060786	Q53HC5	KLH26_HUMAN			3	501	+			158					Q8TAP0|Q9NUX3	Silent	SNP	ENST00000300976.4	37	c.474G>A	CCDS12384.1																																																																																				PASS	0.647	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		7	36	7	36	---	---	---	---
NCAN	1463	broad.mit.edu	37	19	19345811	19345811	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr19:19345811C>A	ENST00000252575.6	+	10	3255	c.3156C>A	c.(3154-3156)tgC>tgA	p.C1052*	RNU6-1028P_ENST00000517164.1_RNA|NCAN_ENST00000538881.1_Nonsense_Mutation_p.C503*	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1052	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.C1066*(1)|p.C1052*(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	ACTGCCTCTGCAGCCCCTGTG	0.537																																						uc002nlz.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)	4						c.(3154-3156)TGC>TGA		chondroitin sulfate proteoglycan 3 precursor							147.0	115.0	126.0					19																	19345811		2203	4300	6503	SO:0001587	stop_gained	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19345811C>A	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3156C>A	19.37:g.19345811C>A	ENSP00000252575:p.Cys1052*					NCAN_uc010ecc.1_Nonsense_Mutation_p.C616*	p.C1052*	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		10	3255	+			1052			EGF-like 2; calcium-binding (Potential).		Q9UPK6	Nonsense_Mutation	SNP	ENST00000252575.6	37	c.3156C>A	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	37	5.978509	0.97168	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	.	.	.	4.53	0.988	0.19796	.	0.186677	0.26560	N	0.023688	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-16.9749	4.3639	0.11215	0.1654:0.5955:0.1447:0.0943	.	.	.	.	X	1066;1052;503	.	ENSP00000252575:C1052X	C	+	3	2	NCAN	19206811	0.922000	0.31269	0.985000	0.45067	0.970000	0.65996	-0.046000	0.11983	0.540000	0.28808	-0.229000	0.12294	TGC		PASS	0.537	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		8	74	8	74	---	---	---	---
KMT2B	9757	broad.mit.edu	37	19	36212435	36212435	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr19:36212435A>G	ENST00000222270.7	+	3	2186	c.2186A>G	c.(2185-2187)aAc>aGc	p.N729S	KMT2B_ENST00000420124.1_Missense_Mutation_p.N729S|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	729	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.N729S(1)									GCTCTGAGCAACGGGCCACAG	0.662																																						uc010eei.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(2185-2187)AAC>AGC		myeloid/lymphoid or mixed-lineage leukemia 4							38.0	50.0	46.0					19																	36212435		2102	4235	6337	SO:0001583	missense	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36212435A>G	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2186A>G	19.37:g.36212435A>G	ENSP00000222270:p.Asn729Ser						p.N729S	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	2186	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		729			Pro-rich.		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.2186A>G	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	A	10.43	1.348478	0.24426	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.82984	-1.67;-1.67	4.91	1.65	0.23941	.	0.906790	0.09084	N	0.850847	T	0.64627	0.2615	N	0.14661	0.345	0.21933	N	0.999462	B	0.02656	0.0	B	0.01281	0.0	T	0.46762	-0.9168	10	0.06365	T	0.9	.	6.9947	0.24777	0.7118:0.0:0.2882:0.0	.	729	Q9UMN6	MLL4_HUMAN	S	729	ENSP00000222270:N729S;ENSP00000398837:N729S	ENSP00000222270:N729S	N	+	2	0	AD000671.1	40904275	0.475000	0.25894	0.997000	0.53966	0.744000	0.42396	0.232000	0.17891	0.064000	0.16427	0.443000	0.29094	AAC		PASS	0.662	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		10	37	10	37	---	---	---	---
ZNF260	339324	broad.mit.edu	37	19	37005980	37005980	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr19:37005980G>A	ENST00000523638.1	-	3	1282	c.161C>T	c.(160-162)tCt>tTt	p.S54F	ZNF260_ENST00000588993.1_Missense_Mutation_p.S54F|ZNF260_ENST00000592282.1_Missense_Mutation_p.S54F|ZNF260_ENST00000593142.1_Missense_Mutation_p.S54F	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	54					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S54F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					GCATTCATGAGATTTCTCTCC	0.363																																						uc002oee.1																			1	Substitution - Missense(1)		lung(1)		0						c.(160-162)TCT>TTT		zinc finger protein 260							153.0	144.0	147.0					19																	37005980		2203	4300	6503	SO:0001583	missense	339324				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37005980G>A	AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"""Zinc fingers, C2H2-type"""	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.161C>T	19.37:g.37005980G>A	ENSP00000429803:p.Ser54Phe					ZNF260_uc002oed.1_Missense_Mutation_p.S51F|ZNF260_uc010eey.1_Missense_Mutation_p.S51F|ZNF260_uc002oef.1_Missense_Mutation_p.S51F	p.S54F	NM_001012756	NP_001012774	Q3ZCT1	ZN260_HUMAN			4	1005	-	Esophageal squamous(110;0.162)		54					Q0VF43	Missense_Mutation	SNP	ENST00000523638.1	37	c.161C>T	CCDS33003.1	.	.	.	.	.	.	.	.	.	.	G	8.427	0.847740	0.17034	.	.	ENSG00000254004	ENST00000523638	T	0.17691	2.26	4.21	4.21	0.49690	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19327	0.0464	L	0.39566	1.225	0.28711	N	0.903543	P	0.37864	0.61	B	0.39258	0.295	T	0.09100	-1.0690	9	0.87932	D	0	.	15.8353	0.78793	0.0:0.0:1.0:0.0	.	54	Q3ZCT1	ZN260_HUMAN	F	54	ENSP00000429803:S54F	ENSP00000429803:S54F	S	-	2	0	ZNF260	41697820	0.974000	0.33945	0.222000	0.23844	0.010000	0.07245	5.147000	0.64851	2.338000	0.79540	0.555000	0.69702	TCT		PASS	0.363	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	NM_001012756		28	61	28	61	---	---	---	---
NUMBL	9253	broad.mit.edu	37	19	41186909	41186909	+	Silent	SNP	G	G	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr19:41186909G>A	ENST00000252891.4	-	6	620	c.453C>T	c.(451-453)cgC>cgT	p.R151R	NUMBL_ENST00000540131.1_Silent_p.R110R|NUMBL_ENST00000599594.1_5'Flank|NUMBL_ENST00000598779.1_Silent_p.R110R	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	151	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)		p.R151R(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			TGTCCAGGTTGCGGTCAGGAG	0.552																																						uc002oon.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(1)|breast(1)	5						c.(451-453)CGC>CGT		numb homolog (Drosophila)-like							148.0	135.0	139.0					19																	41186909		2203	4300	6503	SO:0001819	synonymous_variant	9253				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	g.chr19:41186909G>A	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.453C>T	19.37:g.41186909G>A						NUMBL_uc010xvq.1_Silent_p.R110R|NUMBL_uc002ooo.2_Silent_p.R151R|NUMBL_uc010xvr.1_Silent_p.R110R	p.R151R	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)		6	621	-			151			PID.		Q7Z4J9	Silent	SNP	ENST00000252891.4	37	c.453C>T	CCDS12561.1																																																																																				PASS	0.552	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		42	93	42	93	---	---	---	---
ZNF229	7772	broad.mit.edu	37	19	44934577	44934577	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr19:44934577G>T	ENST00000588931.1	-	6	812	c.379C>A	c.(379-381)Caa>Aaa	p.Q127K	ZNF229_ENST00000291187.4_Missense_Mutation_p.Q121K|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	127					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.Q127K(1)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TCTTTTCCTTGCAGATTTACT	0.468																																						uc002oze.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(379-381)CAA>AAA		zinc finger protein 229							90.0	87.0	88.0					19																	44934577		1879	4101	5980	SO:0001583	missense	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44934577G>T	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.379C>A	19.37:g.44934577G>T	ENSP00000466519:p.Gln127Lys					ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.Q121K	p.Q127K	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN			6	813	-		Prostate(69;0.0352)	127					B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	c.379C>A	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996595	0.35226	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.4	2.36	0.29203	.	.	.	.	.	T	0.19525	0.0469	L	0.27053	0.805	0.09310	N	1	B	0.34103	0.437	B	0.27500	0.08	T	0.08249	-1.0731	8	0.12430	T	0.62	.	8.3186	0.32115	0.1248:0.0:0.8752:0.0	.	127	Q9UJW7	ZN229_HUMAN	K	127	.	ENSP00000291187:Q127K	Q	-	1	0	ZNF229	49626417	0.000000	0.05858	0.009000	0.14445	0.070000	0.16714	0.193000	0.17116	1.892000	0.54788	0.604000	0.83254	CAA		PASS	0.468	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		18	66	18	66	---	---	---	---
VASP	7408	broad.mit.edu	37	19	46021024	46021024	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr19:46021024C>A	ENST00000245932.6	+	2	465	c.109C>A	c.(109-111)Cag>Aag	p.Q37K	VASP_ENST00000586619.1_3'UTR	NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	37	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	profilin binding (GO:0005522)	p.Q37K(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		CAGCCGCGTCCAGATCTACCA	0.642																																						uc002pcg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(109-111)CAG>AAG		vasodilator-stimulated phosphoprotein							68.0	52.0	57.0					19																	46021024		2203	4300	6503	SO:0001583	missense	7408				axon guidance|cell junction assembly|T cell receptor signaling pathway	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	actin binding|profilin binding|SH3 domain binding	g.chr19:46021024C>A		CCDS33051.1	19q13.32	2012-02-22			ENSG00000125753	ENSG00000125753			12652	protein-coding gene	gene with protein product		601703				8812448	Standard	XM_005259199		Approved		uc002pcg.3	P50552		ENST00000245932.6:c.109C>A	19.37:g.46021024C>A	ENSP00000245932:p.Gln37Lys					VASP_uc010eki.2_Silent_p.S20S|VASP_uc002pci.2_Missense_Mutation_p.Q24K	p.Q37K	NM_003370	NP_003361	P50552	VASP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)	2	451	+		Ovarian(192;0.051)|all_neural(266;0.112)	37			WH1.		B2RBT9|Q6PIZ1|Q93035	Missense_Mutation	SNP	ENST00000245932.6	37	c.109C>A	CCDS33051.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082102	0.76528	.	.	ENSG00000125753	ENST00000245932	T	0.38560	1.13	4.75	4.75	0.60458	EVH1 (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.56761	0.2007	M	0.68317	2.08	0.80722	D	1	D	0.53885	0.963	P	0.57152	0.814	T	0.56372	-0.7990	10	0.38643	T	0.18	-19.0225	15.6284	0.76882	0.0:1.0:0.0:0.0	.	37	P50552	VASP_HUMAN	K	37	ENSP00000245932:Q37K	ENSP00000245932:Q37K	Q	+	1	0	VASP	50712864	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.908000	0.48750	2.340000	0.79590	0.655000	0.94253	CAG		PASS	0.642	VASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459589.1			27	63	27	63	---	---	---	---
VASP	7408	broad.mit.edu	37	19	46021195	46021195	+	Silent	SNP	C	C	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr19:46021195C>T	ENST00000245932.6	+	3	542	c.186C>T	c.(184-186)atC>atT	p.I62I	VASP_ENST00000586619.1_3'UTR	NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	62	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	profilin binding (GO:0005522)	p.I62I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		AGGTGGTCATCAACTGTGCCA	0.687																																						uc002pcg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(184-186)ATC>ATT		vasodilator-stimulated phosphoprotein							25.0	26.0	25.0					19																	46021195		2203	4300	6503	SO:0001819	synonymous_variant	7408				axon guidance|cell junction assembly|T cell receptor signaling pathway	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	actin binding|profilin binding|SH3 domain binding	g.chr19:46021195C>T		CCDS33051.1	19q13.32	2012-02-22			ENSG00000125753	ENSG00000125753			12652	protein-coding gene	gene with protein product		601703				8812448	Standard	XM_005259199		Approved		uc002pcg.3	P50552		ENST00000245932.6:c.186C>T	19.37:g.46021195C>T						VASP_uc010eki.2_Missense_Mutation_p.S46L|VASP_uc002pci.2_Silent_p.I49I	p.I62I	NM_003370	NP_003361	P50552	VASP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)	3	528	+		Ovarian(192;0.051)|all_neural(266;0.112)	62			WH1.		B2RBT9|Q6PIZ1|Q93035	Silent	SNP	ENST00000245932.6	37	c.186C>T	CCDS33051.1																																																																																				PASS	0.687	VASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459589.1			9	21	9	21	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55144519	55144519	+	Silent	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr19:55144519C>A	ENST00000396331.1	+	8	1368	c.1011C>A	c.(1009-1011)gcC>gcA	p.A337A	LILRB1_ENST00000396321.2_Silent_p.A337A|LILRB1_ENST00000396327.3_Silent_p.A337A|LILRB1_ENST00000434867.2_Silent_p.A337A|LILRB1_ENST00000418536.2_Silent_p.A337A|LILRB1_ENST00000448689.1_Silent_p.A337A|LILRB1_ENST00000396317.1_Silent_p.A337A|LILRB1_ENST00000396332.4_Silent_p.A337A|LILRB1_ENST00000324602.7_Silent_p.A337A|LILRB1_ENST00000396315.1_Silent_p.A337A|LILRB1_ENST00000427581.2_Silent_p.A373A	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	337	Ig-like C2-type 4.				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.A337A(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)		CCACGGTGGCCTCAGGAGAGA	0.597										HNSCC(37;0.09)																												uc002qgj.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1009-1011)GCC>GCA		leukocyte immunoglobulin-like receptor,							74.0	78.0	77.0					19																	55144519		2203	4300	6503	SO:0001819	synonymous_variant	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55144519C>A	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.1011C>A	19.37:g.55144519C>A		HNSCC(37;0.09)				LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Silent_p.A337A|LILRB1_uc002qgk.2_Silent_p.A337A|LILRB1_uc002qgm.2_Silent_p.A337A|LILRB1_uc010erq.2_Silent_p.A337A|LILRB1_uc010err.2_RNA	p.A337A	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	8	1351	+			337			Ig-like C2-type 4.|Extracellular (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	c.1011C>A	CCDS42617.1																																																																																				PASS	0.597	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			22	24	22	24	---	---	---	---
NLRP7	199713	broad.mit.edu	37	19	55441986	55441986	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr19:55441986C>A	ENST00000590030.1	-	8	2731	c.2691G>T	c.(2689-2691)gaG>gaT	p.E897D	NLRP7_ENST00000588756.1_Missense_Mutation_p.E897D|NLRP7_ENST00000328092.5_Missense_Mutation_p.E869D|NLRP7_ENST00000448121.2_Missense_Mutation_p.E869D|NLRP7_ENST00000592784.1_Missense_Mutation_p.E897D|NLRP7_ENST00000340844.2_Missense_Mutation_p.E897D|NLRP7_ENST00000446217.1_Missense_Mutation_p.E925D			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	897							ATP binding (GO:0005524)	p.E897D(1)|p.E869D(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CTTGGAGCGCCTCTGAGAGAT	0.478																																						uc002qih.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(2689-2691)GAG>GAT		NACHT, leucine rich repeat and PYD containing 7							121.0	116.0	118.0					19																	55441986		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55441986C>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2691G>T	19.37:g.55441986C>A	ENSP00000465520:p.Glu897Asp					NLRP7_uc002qig.3_Missense_Mutation_p.E869D|NLRP7_uc002qii.3_Missense_Mutation_p.E897D|NLRP7_uc010esk.2_Missense_Mutation_p.E897D|NLRP7_uc010esl.2_Missense_Mutation_p.E925D	p.E897D	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	9	2767	-			897			LRR 7.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.2691G>T	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	4.961	0.178538	0.09443	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	T;T;T	0.54071	0.59;0.59;0.59	2.15	1.11	0.20524	.	.	.	.	.	T	0.35038	0.0918	L	0.37507	1.11	0.09310	N	1	B;B;B;B	0.14012	0.009;0.009;0.005;0.002	B;B;B;B	0.18263	0.006;0.021;0.021;0.004	T	0.23476	-1.0187	9	0.13853	T	0.58	.	4.3874	0.11323	0.0:0.8051:0.0:0.1949	.	925;897;897;869	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	D	897;869;897;925	ENSP00000409137:E869D;ENSP00000339491:E897D;ENSP00000414273:E925D	ENSP00000329568:E897D	E	-	3	2	NLRP7	60133798	0.000000	0.05858	0.003000	0.11579	0.031000	0.12232	-0.274000	0.08537	0.468000	0.27243	0.645000	0.84053	GAG		PASS	0.478	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		18	51	18	51	---	---	---	---
PLCB4	5332	broad.mit.edu	37	20	9371211	9371211	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr20:9371211C>A	ENST00000378493.1	+	14	1287	c.1272C>A	c.(1270-1272)tgC>tgA	p.C424*	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.C424*|PLCB4_ENST00000414679.2_Nonsense_Mutation_p.C424*|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.C424*|PLCB4_ENST00000378501.2_Nonsense_Mutation_p.C424*|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.C424*			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	424	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.C424*(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CCAAATATTGCGAAGATCTAT	0.353																																						uc002wnf.2																			1	Substitution - Nonsense(1)		lung(1)	skin(11)|ovary(3)|pancreas(1)	15						c.(1270-1272)TGC>TGA		phospholipase C beta 4 isoform b							74.0	72.0	73.0					20																	9371211		2203	4300	6503	SO:0001587	stop_gained	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9371211C>A		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1272C>A	20.37:g.9371211C>A	ENSP00000367754:p.Cys424*					PLCB4_uc010gbw.1_Nonsense_Mutation_p.C424*|PLCB4_uc010gbx.2_Nonsense_Mutation_p.C424*|PLCB4_uc002wne.2_Nonsense_Mutation_p.C424*|PLCB4_uc002wnh.2_Nonsense_Mutation_p.C271*	p.C424*	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			16	1408	+			424			PI-PLC X-box.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Nonsense_Mutation	SNP	ENST00000378493.1	37	c.1272C>A	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	C	38	7.224471	0.98146	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	.	.	.	5.64	-5.91	0.02269	.	0.127712	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2353	0.73427	0.0:0.2474:0.0:0.7526	.	.	.	.	X	424;424;424;424;424;260	.	ENSP00000278655:C424X	C	+	3	2	PLCB4	9319211	0.309000	0.24518	0.909000	0.35828	0.994000	0.84299	-0.496000	0.06436	-0.985000	0.03503	-0.225000	0.12378	TGC		PASS	0.353	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			12	22	12	22	---	---	---	---
BPIFA3	128861	broad.mit.edu	37	20	31814784	31814784	+	Silent	SNP	T	T	C			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr20:31814784T>C	ENST00000375454.3	+	6	880	c.670T>C	c.(670-672)Ttg>Ctg	p.L224L	BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Silent_p.L188L	NM_178466.3	NP_848561.2	Q9BQP9	BPIA3_HUMAN	BPI fold containing family A, member 3	224						extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.L224L(1)									TGTGAAACTGTTGAAAAGCCT	0.552																																						uc002wyr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(670-672)TTG>CTG		short long palate, lung and nasal epithelium							131.0	126.0	127.0					20																	31814784		2203	4300	6503	SO:0001819	synonymous_variant	128861					extracellular region	lipid binding	g.chr20:31814784T>C		CCDS13216.2, CCDS42865.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131059	ENSG00000131059		"""BPI fold containing"""	16204	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 71"""	C20orf71		11971875, 21787333	Standard	XR_244132		Approved	bA49G10.4, SPLUNC3	uc002wyr.3	Q9BQP9	OTTHUMG00000032245	ENST00000375454.3:c.670T>C	20.37:g.31814784T>C						C20orf71_uc002wys.2_Silent_p.L188L	p.L224L	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN			6	878	+			224					Q5JWG8|Q6NZ38	Silent	SNP	ENST00000375454.3	37	c.670T>C	CCDS13216.2																																																																																				PASS	0.552	BPIFA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078672.1	NM_178466		21	75	21	75	---	---	---	---
FAM83C	128876	broad.mit.edu	37	20	33875512	33875512	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr20:33875512A>T	ENST00000374408.3	-	4	1166	c.1070T>A	c.(1069-1071)aTg>aAg	p.M357K	EIF6_ENST00000374450.3_5'Flank|EIF6_ENST00000374436.3_5'Flank|EIF6_ENST00000374443.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	357								p.M357K(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGAGCGACCCATAAGCGGTGA	0.652																																						uc010zux.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1069-1071)ATG>AAG		hypothetical protein LOC128876							128.0	103.0	111.0					20																	33875512		2203	4300	6503	SO:0001583	missense	128876							g.chr20:33875512A>T	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1070T>A	20.37:g.33875512A>T	ENSP00000363529:p.Met357Lys					EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Intron	p.M357K	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	1188	-			357					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.1070T>A	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	A	2.543	-0.305753	0.05495	.	.	ENSG00000125998	ENST00000374408	T	0.06849	3.25	4.53	-1.92	0.07618	.	0.540070	0.16966	N	0.192282	T	0.08403	0.0209	M	0.71206	2.165	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.37572	-0.9700	10	0.21014	T	0.42	-4.9858	6.9331	0.24451	0.5794:0.1183:0.3023:0.0	.	357	Q9BQN1	FA83C_HUMAN	K	357	ENSP00000363529:M357K	ENSP00000363529:M357K	M	-	2	0	FAM83C	33338926	0.000000	0.05858	0.023000	0.16930	0.005000	0.04900	-0.178000	0.09782	-0.553000	0.06158	-1.447000	0.01057	ATG		PASS	0.652	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			14	25	14	25	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37179733	37179733	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr20:37179733G>A	ENST00000262879.6	+	21	3313	c.3029G>A	c.(3028-3030)cGc>cAc	p.R1010H	RALGAPB_ENST00000397038.1_Missense_Mutation_p.R788H|RALGAPB_ENST00000397040.1_Missense_Mutation_p.R1010H|RALGAPB_ENST00000397042.3_Missense_Mutation_p.R1006H			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1010					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.R1010H(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCTGAACCTCGCCCAGTTCCT	0.393																																						uc002xiw.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(3028-3030)CGC>CAC		Ral GTPase activating protein, beta subunit							166.0	155.0	159.0					20																	37179733		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37179733G>A	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.3029G>A	20.37:g.37179733G>A	ENSP00000262879:p.Arg1010His					RALGAPB_uc002xix.2_Missense_Mutation_p.R1006H|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Missense_Mutation_p.R788H	p.R1010H	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN			21	3286	+			1010					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.3029G>A	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377839	0.82682	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.82815	0.5119	M	0.76574	2.34	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.989	T	0.81949	-0.0699	9	0.54805	T	0.06	.	20.5752	0.99366	0.0:0.0:1.0:0.0	.	1006;1010	A2A2E9;Q86X10	.;RLGPB_HUMAN	H	1010;1006;788;1010;838	.	ENSP00000262879:R1010H	R	+	2	0	RALGAPB	36613147	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.868000	0.98415	0.557000	0.71058	CGC		PASS	0.393	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		27	128	27	128	---	---	---	---
SLC32A1	140679	broad.mit.edu	37	20	37353631	37353631	+	Silent	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr20:37353631C>A	ENST00000217420.1	+	1	527	c.264C>A	c.(262-264)ggC>ggA	p.G88G		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	88					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)	p.G88G(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	ATCAGCGAGGCAGCGGAGCTC	0.672																																						uc002xjc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(262-264)GGC>GGA		solute carrier family 32, member 1	Glycine(DB00145)						29.0	34.0	32.0					20																	37353631		2196	4290	6486	SO:0001819	synonymous_variant	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37353631C>A	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.264C>A	20.37:g.37353631C>A							p.G88G	NM_080552	NP_542119	Q9H598	VIAAT_HUMAN			1	527	+		Myeloproliferative disorder(115;0.00878)	88			Cytoplasmic (Potential).		Q8N489	Silent	SNP	ENST00000217420.1	37	c.264C>A	CCDS13307.1																																																																																				PASS	0.672	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		24	37	24	37	---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40713432	40713432	+	Silent	SNP	G	G	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr20:40713432G>T	ENST00000373187.1	-	29	4025	c.4026C>A	c.(4024-4026)gcC>gcA	p.A1342A	PTPRT_ENST00000373184.1_Silent_p.A1352A|PTPRT_ENST00000373201.1_Silent_p.A1332A|PTPRT_ENST00000373193.3_Silent_p.A1345A|PTPRT_ENST00000373190.1_Silent_p.A1341A|PTPRT_ENST00000356100.2_Silent_p.A1351A|PTPRT_ENST00000373198.4_Silent_p.A1361A			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1342	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.A1364A(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGTCCCGGTAGGCAGGCCAGC	0.597																																						uc002xkg.2																			1	Substitution - coding silent(1)		lung(1)	skin(8)|ovary(7)|lung(5)	20						c.(4024-4026)GCC>GCA		protein tyrosine phosphatase, receptor type, T							61.0	66.0	64.0					20																	40713432		2050	4181	6231	SO:0001819	synonymous_variant	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40713432G>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.4026C>A	20.37:g.40713432G>T						PTPRT_uc010ggj.2_Silent_p.A1361A|PTPRT_uc010ggi.2_Silent_p.A545A	p.A1342A	NM_007050	NP_008981	O14522	PTPRT_HUMAN			29	4210	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1342			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	c.4026C>A	CCDS42874.1																																																																																				PASS	0.597	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			5	23	5	23	---	---	---	---
ZFP64	55734	broad.mit.edu	37	20	50769544	50769544	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr20:50769544T>A	ENST00000216923.4	-	6	1536	c.1187A>T	c.(1186-1188)gAc>gTc	p.D396V	ZFP64_ENST00000371515.4_Missense_Mutation_p.D394V|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Missense_Mutation_p.D342V|ZFP64_ENST00000371518.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	396					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.D396V(2)		breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CTTAACCATGTCCCCATGGAA	0.552																																						uc002xwl.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1186-1188)GAC>GTC		zinc finger protein 64 isoform a							112.0	93.0	99.0					20																	50769544		2203	4300	6503	SO:0001583	missense	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50769544T>A	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1187A>T	20.37:g.50769544T>A	ENSP00000216923:p.Asp396Val					ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.D394V|ZFP64_uc002xwn.2_Missense_Mutation_p.D342V	p.D396V	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN			6	1536	-			396					Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	c.1187A>T	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	T	12.62	1.993281	0.35131	.	.	ENSG00000020256	ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;T	0.08458	3.09;3.12;3.09	5.47	4.34	0.51931	.	0.097704	0.44285	D	0.000463	T	0.20333	0.0489	L	0.46157	1.445	0.80722	D	1	D;D;D	0.69078	0.997;0.981;0.981	D;P;P	0.67382	0.951;0.69;0.69	T	0.00259	-1.1870	10	0.87932	D	0	-23.6141	12.412	0.55471	0.0:0.0:0.1407:0.8593	.	342;394;396	Q9NPA5-2;Q5JWM1;Q9NPA5	.;.;ZF64A_HUMAN	V	396;342;394;238;549	ENSP00000216923:D396V;ENSP00000344615:D342V;ENSP00000360570:D394V	ENSP00000216923:D396V	D	-	2	0	ZFP64	50202951	1.000000	0.71417	0.268000	0.24571	0.039000	0.13416	4.968000	0.63728	0.875000	0.35847	0.482000	0.46254	GAC		PASS	0.552	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		21	66	21	66	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10921941	10921941	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr21:10921941G>T	ENST00000361285.4	-	18	1411	c.1082C>A	c.(1081-1083)aCt>aAt	p.T361N	TPTE_ENST00000342420.5_Missense_Mutation_p.T323N|TPTE_ENST00000298232.7_Missense_Mutation_p.T343N|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	361	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.T343N(1)|p.T361N(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACCTTTGCAGTTGAACATAT	0.338																																						uc002yip.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(1081-1083)ACT>AAT		transmembrane phosphatase with tensin homology							133.0	114.0	121.0					21																	10921941		2203	4299	6502	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10921941G>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1082C>A	21.37:g.10921941G>T	ENSP00000355208:p.Thr361Asn					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.T343N|TPTE_uc002yir.1_Missense_Mutation_p.T323N|TPTE_uc010gkv.1_Missense_Mutation_p.T223N	p.T361N	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	18	1450	-			361			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1082C>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	5.143	0.211990	0.09757	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98617	-5.03;-5.03;-5.03	2.26	1.26	0.21427	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.094982	0.64402	N	0.000001	D	0.95774	0.8625	L	0.42529	1.33	0.09310	N	1	B;B;B	0.27450	0.081;0.081;0.179	B;B;B	0.29440	0.083;0.083;0.102	D	0.91097	0.4911	10	0.44086	T	0.13	-19.4187	5.7987	0.18401	0.0:0.0:0.6649:0.3351	.	323;343;361	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	N	343;361;323	ENSP00000298232:T343N;ENSP00000355208:T361N;ENSP00000344441:T323N	ENSP00000298232:T343N	T	-	2	0	TPTE	9943812	0.990000	0.36364	0.023000	0.16930	0.003000	0.03518	1.579000	0.36536	0.242000	0.21303	0.121000	0.15741	ACT		PASS	0.338	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			7	79	7	79	---	---	---	---
ADAMTS5	11096	broad.mit.edu	37	21	28296372	28296372	+	Silent	SNP	C	C	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr21:28296372C>T	ENST00000284987.5	-	8	2914	c.2793G>A	c.(2791-2793)taG>taA	p.*931*	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	0					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.*931*(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TAACCACAGGCTAACATTTCT	0.468																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(2791-2793)TAG>TAA		ADAM metallopeptidase with thrombospondin type 1							57.0	46.0	50.0					21																	28296372		2203	4300	6503	SO:0001819	synonymous_variant	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28296372C>T	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2793G>A	21.37:g.28296372C>T							p.*931*	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			8	3522	-			931					Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	c.2793G>A	CCDS13579.1																																																																																				PASS	0.468	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			6	10	6	10	---	---	---	---
HSCB	150274	broad.mit.edu	37	22	29139937	29139937	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr22:29139937C>G	ENST00000216027.3	+	2	369	c.304C>G	c.(304-306)Cac>Gac	p.H102D	CHEK2_ENST00000348295.3_5'Flank|CHEK2_ENST00000382580.2_5'Flank|HSCB_ENST00000495977.1_3'UTR|HSCB_ENST00000398941.2_Missense_Mutation_p.H102D|CHEK2_ENST00000328354.6_5'Flank|CHEK2_ENST00000382566.1_5'Flank|CHEK2_ENST00000382578.1_5'Flank|CHEK2_ENST00000405598.1_5'Flank|CHEK2_ENST00000544772.1_5'Flank|CHEK2_ENST00000382565.1_5'Flank	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	102	J.				iron-sulfur cluster assembly (GO:0016226)|protein folding (GO:0006457)|protein oligomerization (GO:0051259)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.H102D(1)		kidney(1)|lung(2)|skin(1)	4						GCGTCTTGTCCACCCAGATTT	0.478																																						uc003aea.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(304-306)CAC>GAC		J-type co-chaperone HSC20 precursor							135.0	121.0	126.0					22																	29139937		2203	4300	6503	SO:0001583	missense	150274				iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding	g.chr22:29139937C>G	AY191719	CCDS13845.1	22q12.1	2013-09-12	2013-09-12		ENSG00000100209	ENSG00000100209		"""Heat shock proteins / DNAJ (HSP40)"""	28913	protein-coding gene	gene with protein product	"""DnaJ (Hsp40) homolog, subfamily C, member 20"""	608142	"""HscB iron-sulfur cluster co-chaperone homolog (E. coli)"""			12938016, 16952052	Standard	NM_172002		Approved	HSC20, DNAJC20, Jac1	uc003aea.3	Q8IWL3	OTTHUMG00000151092	ENST00000216027.3:c.304C>G	22.37:g.29139937C>G	ENSP00000216027:p.His102Asp					CHEK2_uc003adt.1_5'Flank|CHEK2_uc003adu.1_5'Flank|CHEK2_uc003adv.1_5'Flank|CHEK2_uc003adw.1_5'Flank|CHEK2_uc003adx.1_5'Flank|CHEK2_uc003ady.1_5'Flank|CHEK2_uc003adz.1_5'Flank	p.H102D	NM_172002	NP_741999	Q8IWL3	HSC20_HUMAN			2	345	+			102	HPD->AAA: Does not interact with HSPA9. Does not inhibit interaction with ISCU.		J.		Q9BWS7	Missense_Mutation	SNP	ENST00000216027.3	37	c.304C>G	CCDS13845.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034101	0.75504	.	.	ENSG00000100209	ENST00000216027;ENST00000398941	T;T	0.59502	0.26;0.26	5.36	5.36	0.76844	Heat shock protein DnaJ, N-terminal (4);	0.000000	0.85682	D	0.000000	D	0.85923	0.5810	H	0.99130	4.44	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91353	0.5106	10	0.87932	D	0	-19.7239	14.5896	0.68354	0.0:1.0:0.0:0.0	.	102	Q8IWL3	HSC20_HUMAN	D	102	ENSP00000216027:H102D;ENSP00000381914:H102D	ENSP00000216027:H102D	H	+	1	0	HSCB	27469937	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.693000	0.61753	2.522000	0.85027	0.491000	0.48974	CAC		PASS	0.478	HSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321263.1	NM_172002		19	63	19	63	---	---	---	---
SMTN	6525	broad.mit.edu	37	22	31484072	31484072	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr22:31484072G>T	ENST00000347557.2	+	3	391	c.173G>T	c.(172-174)cGg>cTg	p.R58L	SMTN_ENST00000333137.7_Missense_Mutation_p.R58L|SMTN_ENST00000358743.1_Missense_Mutation_p.R58L|SMTN_ENST00000475548.1_3'UTR	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	58					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)	p.R58L(2)|p.R50L(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CGTGCCGAGCGGCAGGACAAC	0.657																																						uc003ajl.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)|pancreas(1)	3						c.(172-174)CGG>CTG		smoothelin isoform c							31.0	32.0	31.0					22																	31484072		2201	4300	6501	SO:0001583	missense	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31484072G>T	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.173G>T	22.37:g.31484072G>T	ENSP00000328635:p.Arg58Leu					SMTN_uc003ajk.1_Missense_Mutation_p.R58L|SMTN_uc003ajm.1_Missense_Mutation_p.R58L|SMTN_uc011ale.1_Missense_Mutation_p.R112L|SMTN_uc011alf.1_Missense_Mutation_p.R114L|SMTN_uc003ajn.1_Missense_Mutation_p.R50L|SMTN_uc011alg.1_5'Flank	p.R58L	NM_006932	NP_008863	P53814	SMTN_HUMAN			3	391	+			58			Potential.		O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.173G>T	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028282	0.93518	.	.	ENSG00000183963	ENST00000426927;ENST00000440425;ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000431481	T;T;T;T;T	0.78816	0.32;0.5;-0.74;-1.21;-1.21	4.8	4.8	0.61643	.	0.000000	0.33309	N	0.005046	T	0.80188	0.4577	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.995;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.997;0.997;0.968;0.997;0.997;0.998	D	0.84500	0.0616	10	0.87932	D	0	-18.6288	18.2748	0.90078	0.0:0.0:1.0:0.0	.	114;112;50;58;58;58	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;SMTN_HUMAN;.	L	112;112;58;58;58;58;50;50	ENSP00000399432:R112L;ENSP00000401341:R112L;ENSP00000351593:R58L;ENSP00000328635:R58L;ENSP00000329532:R58L	ENSP00000329393:R58L	R	+	2	0	SMTN	29814072	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	4.514000	0.60482	2.401000	0.81631	0.655000	0.94253	CGG		PASS	0.657	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		3	5	3	5	---	---	---	---
LARGE	9215	broad.mit.edu	37	22	34157438	34157438	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr22:34157438C>T	ENST00000354992.2	-	3	597	c.26G>A	c.(25-27)cGg>cAg	p.R9Q	LARGE_ENST00000337431.2_Missense_Mutation_p.R9Q|LARGE_ENST00000402320.1_Missense_Mutation_p.R9Q|LARGE_ENST00000437602.2_Missense_Mutation_p.R9Q|LARGE_ENST00000397394.2_Missense_Mutation_p.R9Q	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	9					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)	p.R9Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CAAGAATTTCCGTCTCCCCCT	0.532																																					Colon(70;397 1175 4573 19089 45288)	uc003and.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(25-27)CGG>CAG		like-glycosyltransferase							131.0	121.0	125.0					22																	34157438		2203	4300	6503	SO:0001583	missense	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:34157438C>T	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.26G>A	22.37:g.34157438C>T	ENSP00000347088:p.Arg9Gln					LARGE_uc003ane.3_Missense_Mutation_p.R9Q|LARGE_uc010gwp.2_Missense_Mutation_p.R9Q|LARGE_uc011ame.1_Intron|LARGE_uc011amf.1_Missense_Mutation_p.R9Q	p.R9Q	NM_004737	NP_004728	O95461	LARGE_HUMAN			3	605	-		Lung NSC(1;0.219)	9			Cytoplasmic (Potential).		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.26G>A	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937261	0.73557	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000437602;ENST00000430220;ENST00000413114;ENST00000434071;ENST00000432776;ENST00000423375	T;T;T;T;T;T;T;T	0.53423	1.12;1.09;1.12;1.09;0.62;1.32;1.32;1.3	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.29355	0.0731	N	0.14661	0.345	0.80722	D	1	P;B;P	0.48089	0.787;0.349;0.905	B;B;B	0.32533	0.104;0.065;0.147	T	0.11518	-1.0584	10	0.33141	T	0.24	.	19.1142	0.93331	0.0:1.0:0.0:0.0	.	9;9;9	B7Z2I9;O95461-2;O95461	.;.;LARGE_HUMAN	Q	9	ENSP00000347088:R9Q;ENSP00000336636:R9Q;ENSP00000380549:R9Q;ENSP00000385223:R9Q;ENSP00000388544:R9Q;ENSP00000396277:R9Q;ENSP00000415546:R9Q;ENSP00000389605:R9Q	ENSP00000336636:R9Q	R	-	2	0	LARGE	32487438	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.819000	0.75262	2.749000	0.94314	0.655000	0.94253	CGG		PASS	0.532	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		9	73	9	73	---	---	---	---
FAM47C	442444	broad.mit.edu	37	X	37027907	37027907	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chrX:37027907G>A	ENST00000358047.3	+	1	1476	c.1424G>A	c.(1423-1425)tGc>tAc	p.C475Y		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	475								p.C475Y(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						TCCCATCTCTGCCCGGAGCCT	0.627																																						uc004ddl.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1423-1425)TGC>TAC		hypothetical protein LOC442444							65.0	62.0	63.0					X																	37027907		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37027907G>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.1424G>A	X.37:g.37027907G>A	ENSP00000367913:p.Cys475Tyr						p.C475Y	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	1438	+			475					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1424G>A	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	g	0.047	-1.263885	0.01433	.	.	ENSG00000198173	ENST00000358047	T	0.13307	2.6	1.44	-2.89	0.05665	.	.	.	.	.	T	0.09158	0.0226	L	0.42686	1.345	0.09310	N	1	P	0.40875	0.731	B	0.36922	0.236	T	0.19877	-1.0292	9	0.59425	D	0.04	.	2.9554	0.05875	0.4162:0.3421:0.2417:0.0	.	475	Q5HY64	FA47C_HUMAN	Y	475	ENSP00000367913:C475Y	ENSP00000367913:C475Y	C	+	2	0	FAM47C	36937828	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.019000	0.12546	-0.368000	0.08040	-0.544000	0.04233	TGC		PASS	0.627	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		31	32	31	32	---	---	---	---
TSPAN7	7102	broad.mit.edu	37	X	38546888	38546888	+	Silent	SNP	G	G	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chrX:38546888G>T	ENST00000378482.2	+	7	894	c.717G>T	c.(715-717)cgG>cgT	p.R239R	TSPAN7_ENST00000286824.6_Silent_p.R256R|TM4SF2_ENST00000465127.1_Silent_p.R269R|TSPAN7_ENST00000545599.1_Silent_p.R213R|TSPAN7_ENST00000422612.2_Silent_p.R265R	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	239					viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)		p.R234R(1)|p.R239R(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						GTCTGTCCCGGTTCATCACGG	0.473																																						uc004deg.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(715-717)CGG>CGT		tetraspanin 7							127.0	96.0	106.0					X																	38546888		2202	4300	6502	SO:0001819	synonymous_variant	7102				interspecies interaction between organisms	integral to plasma membrane		g.chrX:38546888G>T	D29808	CCDS14248.1	Xp11.4	2013-02-14	2005-03-21	2005-03-21	ENSG00000156298	ENSG00000156298		"""CD molecules"", ""Tetraspanins"""	11854	protein-coding gene	gene with protein product		300096	"""transmembrane 4 superfamily member 2"", ""mental retardation, X-linked 58"""	MXS1, TM4SF2, MRX58		12070254	Standard	NM_004615		Approved	DXS1692E, TALLA-1, A15, CD231	uc004deg.4	P41732	OTTHUMG00000024090	ENST00000378482.2:c.717G>T	X.37:g.38546888G>T						TSPAN7_uc011mkj.1_Silent_p.R265R|TSPAN7_uc011mkk.1_Silent_p.R256R|TSPAN7_uc004deh.2_Silent_p.R147R	p.R239R	NM_004615	NP_004606	P41732	TSN7_HUMAN			7	786	+			239			Cytoplasmic (Potential).		B2R5W7|D3DWB1|Q8WVG5|Q9UEY9	Silent	SNP	ENST00000378482.2	37	c.717G>T	CCDS14248.1																																																																																				PASS	0.473	TSPAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356412.1			13	7	13	7	---	---	---	---
KDM6A	7403	broad.mit.edu	37	X	44941830	44941830	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chrX:44941830G>T	ENST00000377967.4	+	21	3195	c.3154G>T	c.(3154-3156)Gaa>Taa	p.E1052*	KDM6A_ENST00000382899.4_Nonsense_Mutation_p.E1059*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.E973*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.E1007*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1052	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.E1052*(1)|p.R1054fs*5(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GGAAGAAAATGAAAAAAGAAG	0.313			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3				Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		8	Whole gene deletion(6)|Substitution - Nonsense(1)|Insertion - Frameshift(1)		oesophagus(2)|breast(2)|pancreas(2)|lung(1)|central_nervous_system(1)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(3154-3156)GAA>TAA		ubiquitously transcribed tetratricopeptide							88.0	82.0	84.0					X																	44941830		2203	4300	6503	SO:0001587	stop_gained	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44941830G>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3154G>T	X.37:g.44941830G>T	ENSP00000367203:p.Glu1052*					KDM6A_uc011mkz.1_Nonsense_Mutation_p.E1104*|KDM6A_uc011mla.1_Nonsense_Mutation_p.E1007*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.E1059*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.E756*|KDM6A_uc011mld.1_Nonsense_Mutation_p.E691*	p.E1052*	NM_021140	NP_066963	O15550	KDM6A_HUMAN			21	3529	+			1052					Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	ENST00000377967.4	37	c.3154G>T	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.429924|8.429924	0.98808|0.98808	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216|ENST00000414389;ENST00000433797	.|.	.|.	.|.	5.5|5.5	4.63|4.63	0.57726|0.57726	.|.	0.092757|.	0.64402|.	D|.	0.000001|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.72032|.	D|.	0.01|.	-0.1147|-0.1147	13.7469|13.7469	0.62881|0.62881	0.0:0.0:0.8452:0.1548|0.0:0.0:0.8452:0.1548	.|.	.|.	.|.	.|.	X|L	749;1052;1007;1059;973|649;694	.|.	ENSP00000334340:E749X|.	E|X	+|+	1|2	0|2	KDM6A|KDM6A	44826774|44826774	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.844000|0.844000	0.47949|0.47949	8.313000|8.313000	0.89978|0.89978	1.059000|1.059000	0.40554|0.40554	-0.362000|-0.362000	0.07510|0.07510	GAA|TGA		PASS	0.313	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		20	10	20	10	---	---	---	---
PSMD10	5716	broad.mit.edu	37	X	107334727	107334727	+	Silent	SNP	T	T	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chrX:107334727T>A	ENST00000217958.3	-	1	121	c.24A>T	c.(22-24)ctA>ctT	p.L8L	ATG4A_ENST00000372232.3_5'Flank|PSMD10_ENST00000372296.1_Silent_p.L8L|ATG4A_ENST00000345734.3_5'Flank|PSMD10_ENST00000340200.5_Silent_p.L8L|PSMD10_ENST00000372295.1_Silent_p.L8L|ATG4A_ENST00000372254.3_5'Flank|ATG4A_ENST00000545696.1_5'Flank|PSMD10_ENST00000361815.5_Silent_p.L8L	NM_002814.3|NM_170750.2	NP_002805.1|NP_736606.1	O75832	PSD10_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 10	8	Interaction with RB1.|Required for nuclear localization.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell growth (GO:0030307)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	transcription factor binding (GO:0008134)	p.L8L(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						TGCAGACCATTAGGTTAGACA	0.562																																						uc004enp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(22-24)CTA>CTT		proteasome 26S non-ATPase subunit 10 isoform 1							146.0	132.0	136.0					X																	107334727		2203	4300	6503	SO:0001819	synonymous_variant	5716				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle	transcription factor binding	g.chrX:107334727T>A	AB009619	CCDS14536.1, CCDS14537.1	Xq22.3	2013-01-10			ENSG00000101843	ENSG00000101843		"""Proteasome (prosome, macropain) subunits"", ""Ankyrin repeat domain containing"""	9555	protein-coding gene	gene with protein product	"""gankyrin"""	300880				9714768	Standard	NM_002814		Approved	p28	uc004enp.2	O75832	OTTHUMG00000022177	ENST00000217958.3:c.24A>T	X.37:g.107334727T>A						ATG4A_uc004enr.2_5'Flank|ATG4A_uc004ent.2_5'Flank|ATG4A_uc004ens.2_5'Flank|ATG4A_uc011msl.1_5'Flank|ATG4A_uc010npi.2_5'Flank|PSMD10_uc004enq.1_Silent_p.L8L|PSMD10_uc010nph.1_Silent_p.L8L	p.L8L	NM_002814	NP_002805	O75832	PSD10_HUMAN			1	122	-			8			ANK 1.|Interaction with RB1.|Required for nuclear localization.		Q5U0B2|Q8IZK9	Silent	SNP	ENST00000217958.3	37	c.24A>T	CCDS14536.1																																																																																				PASS	0.562	PSMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057868.1	NM_170750		45	25	45	25	---	---	---	---
DCAF12L1	139170	broad.mit.edu	37	X	125686112	125686112	+	Silent	SNP	G	G	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chrX:125686112G>A	ENST00000371126.1	-	1	722	c.480C>T	c.(478-480)tcC>tcT	p.S160S		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	160								p.S160S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GAAGCGTCTTGGAGGGATTCA	0.667																																						uc004eul.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)	4						c.(478-480)TCC>TCT		DDB1 and CUL4 associated factor 12-like 1							78.0	76.0	77.0					X																	125686112		2203	4300	6503	SO:0001819	synonymous_variant	139170							g.chrX:125686112G>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.480C>T	X.37:g.125686112G>A							p.S160S	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	731	-			160			WD 1.		Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.480C>T	CCDS14610.1																																																																																				PASS	0.667	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		10	13	10	13	---	---	---	---
BRS3	680	broad.mit.edu	37	X	135570420	135570420	+	Silent	SNP	C	C	A			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chrX:135570420C>A	ENST00000370648.3	+	1	375	c.147C>A	c.(145-147)gcC>gcA	p.A49A	Z97632.1_ENST00000580943.1_RNA	NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	49					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)	p.A49A(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CATTGTGTGCCATCTATATTA	0.398																																						uc004ezv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(145-147)GCC>GCA		bombesin-like receptor 3							153.0	134.0	141.0					X																	135570420		2203	4300	6503	SO:0001819	synonymous_variant	680				adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity	g.chrX:135570420C>A		CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"""GPCR / Class A : Bombesin receptors"""	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.147C>A	X.37:g.135570420C>A							p.A49A	NM_001727	NP_001718	P32247	BRS3_HUMAN			1	296	+	Acute lymphoblastic leukemia(192;0.000127)		49			Helical; Name=1; (Potential).			Silent	SNP	ENST00000370648.3	37	c.147C>A	CCDS14656.1																																																																																				PASS	0.398	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059005.1	NM_001727		34	25	34	25	---	---	---	---
MCF2	4168	broad.mit.edu	37	X	138692464	138692464	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chrX:138692464A>T	ENST00000370576.4	-	11	1606	c.1397T>A	c.(1396-1398)tTa>tAa	p.L466*	MCF2_ENST00000520602.1_Nonsense_Mutation_p.L526*|MCF2_ENST00000370578.4_Nonsense_Mutation_p.L611*|MCF2_ENST00000414978.1_Nonsense_Mutation_p.L526*|MCF2_ENST00000519895.1_Nonsense_Mutation_p.L542*|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000370573.4_Nonsense_Mutation_p.L466*|MCF2_ENST00000536274.1_Nonsense_Mutation_p.L427*|MCF2_ENST00000338585.6_Nonsense_Mutation_p.L482*	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	466					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L466*(2)|p.L542*(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					ATTTACTTTTAAGTTGCTCTG	0.299																																						uc004fau.2																			3	Substitution - Nonsense(3)		lung(3)	lung(1)|pleura(1)	2						c.(1396-1398)TTA>TAA		MCF.2 cell line derived transforming sequence							47.0	40.0	43.0					X																	138692464		2200	4298	6498	SO:0001587	stop_gained	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138692464A>T		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1397T>A	X.37:g.138692464A>T	ENSP00000359608:p.Leu466*					MCF2_uc004fav.2_Nonsense_Mutation_p.L482*|MCF2_uc011mwl.1_Nonsense_Mutation_p.L443*|MCF2_uc010nsh.1_Nonsense_Mutation_p.L466*|MCF2_uc011mwm.1_Nonsense_Mutation_p.L427*|MCF2_uc011mwn.1_Nonsense_Mutation_p.L611*|MCF2_uc004faw.2_Nonsense_Mutation_p.L526*|MCF2_uc011mwo.1_Nonsense_Mutation_p.L542*	p.L466*	NM_005369	NP_005360	P10911	MCF2_HUMAN			11	1691	-	Acute lymphoblastic leukemia(192;0.000127)		466					B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Nonsense_Mutation	SNP	ENST00000370576.4	37	c.1397T>A	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	A	36	5.778704	0.96929	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585	.	.	.	5.78	0.271	0.15640	.	1.854260	0.02451	N	0.085551	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	5.272	0.15630	0.5555:0.2594:0.1851:0.0	.	.	.	.	X	526;466;427;611;526;69;542;466;482	.	ENSP00000342204:L482X	L	-	2	0	MCF2	138520130	0.936000	0.31750	0.205000	0.23548	0.991000	0.79684	2.577000	0.46042	0.309000	0.22966	0.425000	0.28330	TTA		PASS	0.299	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		3	5	3	5	---	---	---	---
MAGEA8	4107	broad.mit.edu	37	X	149013145	149013145	+	Silent	SNP	T	T	C			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chrX:149013145T>C	ENST00000542674.1	+	3	620	c.99T>C	c.(97-99)gcT>gcC	p.A33A	MAGEA8_ENST00000535454.1_Silent_p.A33A|MAGEA8_ENST00000493910.1_3'UTR|MAGEA8_ENST00000286482.1_Silent_p.A33A	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	33								p.A33A(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCCACAGCTGAGGAGCAGA	0.567																																						uc004fdw.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(97-99)GCT>GCC		melanoma antigen family A, 8							57.0	44.0	48.0					X																	149013145		2203	4298	6501	SO:0001819	synonymous_variant	4107							g.chrX:149013145T>C		CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"""MAGE-8 antigen"", ""cancer/testis antigen family 1, member 8"""	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.99T>C	X.37:g.149013145T>C							p.A33A	NM_005364	NP_005355	P43361	MAGA8_HUMAN			3	314	+	Acute lymphoblastic leukemia(192;6.56e-05)		33					Q9BUN9	Silent	SNP	ENST00000542674.1	37	c.99T>C	CCDS14692.1																																																																																				PASS	0.567	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	NM_005364		4	12	4	12	---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-	rs372504208		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2				Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		2	Deletion - Frameshift(2)		haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(16-18)CCCfs		notch 2 preproprotein																																				SO:0001589	frameshift_variant	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120612003_120612004delGG	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.17_18delCC	1.37:g.120612005_120612006delGG	ENSP00000256646:p.Pro6fs					NOTCH2_uc001eil.2_Frame_Shift_Del_p.P6fs|NOTCH2_uc001eim.3_5'UTR	p.P6fs	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	273_274	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	6					Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.17_18delCC	CCDS908.1																																																																																					0.762	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		10	5	10	5	---	---	---	---
OR10K1	391109	broad.mit.edu	37	1	158435542	158435542	+	Frame_Shift_Del	DEL	C	C	-			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr1:158435542delC	ENST00000289451.2	+	1	271	c.191delC	c.(190-192)gccfs	p.A64fs		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTCTTCCTTGCCATCCTTTCT	0.478																																						uc010pij.1																			0				ovary(1)	1						c.(190-192)GCCfs		olfactory receptor, family 10, subfamily K,							218.0	190.0	200.0					1																	158435542		2203	4300	6503	SO:0001589	frameshift_variant	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158435542delC	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.191delC	1.37:g.158435542delC	ENSP00000289451:p.Ala64fs						p.A64fs	NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN			1	191	+	all_hematologic(112;0.0378)		64			Helical; Name=2; (Potential).		Q6IFS2	Frame_Shift_Del	DEL	ENST00000289451.2	37	c.191delC	CCDS30897.1																																																																																					0.478	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			106	93	106	93	---	---	---	---
REG1P	5969	broad.mit.edu	37	2	79362646	79362647	+	RNA	INS	-	-	T			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr2:79362646_79362647insT	ENST00000444841.1	-	0	1691_1692									regenerating islet-derived 1 pseudogene																		AAACATGTTTATTTTTATTGTT	0.426																																						uc002soa.1																			0					0								Homo sapiens mRNA for Reg-related sequence derived peptide-1, complete cds.																																						5969							g.chr2:79362646_79362647insT			2p12	2008-06-04	2008-06-04	2008-06-04	ENSG00000204787	ENSG00000204787			9953	pseudogene	pseudogene			"""rat regenerating islet-derived-like, human homolog (pancreatic stone protein-like, pancreatic thread protein-like)"", ""regenerating islet-derived-like, pancreatic stone protein-like, pancreatic thread protein-like (rat)"""	REGL		8333731	Standard	NR_002714		Approved	RS	uc002soc.1		OTTHUMG00000152978		2.37:g.79362651_79362651dupT						REG1P_uc002sob.1_RNA|REG1P_uc002soc.1_RNA								4		-									RNA	INS	ENST00000444841.1	37	c.1667_1668insA																																																																																						0.426	REG1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328851.1	NR_002714		4	2	4	2	---	---	---	---
PCYT1A	5130	broad.mit.edu	37	3	195963973	195963974	+	3'UTR	INS	-	-	AG	rs72356389|rs147293878	byFrequency	TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr3:195963973_195963974insAG	ENST00000292823.2	-	0	2861_2862				SLC51A_ENST00000479732.1_Intron|PCYT1A_ENST00000419333.1_Intron	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha						CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	ACAGTCCTAGCAGAGGCAAGGA	0.48														775	0.154752	0.3699	0.0836	5008	,	,		22457	0.0665		0.0845	False		,,,				2504	0.0777					uc003fwf.1																			0													Homo sapiens full length insert cDNA clone ZD56D02.																																				SO:0001624	3_prime_UTR_variant	0							g.chr3:195963973_195963974insAG	L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	123695	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.*1586->CT	3.37:g.195963976_195963977dupAG														1		-								A9LYK9|D3DXB1|Q86Y88	RNA	INS	ENST00000292823.2	37	c.812_813insCT	CCDS3315.1																																																																																					0.480	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	NM_005017		0	8	0	8	---	---	---	---
CASP4	837	broad.mit.edu	37	11	104822634	104822635	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr11:104822634_104822635delTT	ENST00000444739.2	-	3	1270_1271	c.360_361delAA	c.(358-363)gaaagafs	p.R121fs	CASP4_ENST00000393150.3_Frame_Shift_Del_p.R65fs|CASP4_ENST00000531333.1_Intron	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	121					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TCTTCAGCTCTTTCTTTACATA	0.406																																						uc001pid.1																			0				lung(2)|ovary(1)|skin(1)	4						c.(358-363)GAAAGAfs		caspase 4 isoform alpha precursor																																				SO:0001589	frameshift_variant	837				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104822634_104822635delTT	U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"""Caspases"""	1505	protein-coding gene	gene with protein product		602664	"""caspase 4, apoptosis-related cysteine protease"""			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.360_361delAA	11.37:g.104822634_104822635delTT	ENSP00000388566:p.Arg121fs					CASP4_uc001pib.1_Frame_Shift_Del_p.E64fs|CASP4_uc009yxg.1_Frame_Shift_Del_p.E29fs|CASP4_uc010rux.1_Frame_Shift_Del_p.E120fs|CASP4_uc010ruy.1_Frame_Shift_Del_p.E120fs	p.E120fs	NM_001225	NP_001216	P49662	CASP4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)	3	433_434	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	120_121					A2NHL8|A2NHM0	Frame_Shift_Del	DEL	ENST00000444739.2	37	c.360_361delAA	CCDS8327.1																																																																																					0.406	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225		24	12	24	12	---	---	---	---
ZNF268	10795	broad.mit.edu	37	12	133780828	133780829	+	Frame_Shift_Ins	INS	-	-	C			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr12:133780828_133780829insC	ENST00000536435.2	+	6	2886_2887	c.2556_2557insC	c.(2557-2559)gtafs	p.V853fs	ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000228289.5_Frame_Shift_Ins_p.V853fs|ZNF268_ENST00000537565.1_Frame_Shift_Ins_p.V692fs|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	853					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TACGCCTTCTTGTACACCAGAG	0.411																																						uc010tcf.1																			0				ovary(1)	1						c.(2554-2559)CTTGTAfs		zinc finger protein 268 isoform a																																				SO:0001589	frameshift_variant	10795					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:133780828_133780829insC	X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	Exception_encountered	12.37:g.133780828_133780829insC	ENSP00000444412:p.Val853fs					ZNF268_uc010tbv.1_Frame_Shift_Ins_p.L691fs|ZNF268_uc010tbw.1_Frame_Shift_Ins_p.L691fs|ZNF268_uc010tbx.1_Frame_Shift_Ins_p.L712fs|ZNF268_uc010tby.1_Frame_Shift_Ins_p.L691fs|ZNF268_uc010tbz.1_Frame_Shift_Ins_p.L691fs|ZNF268_uc010tca.1_Frame_Shift_Ins_p.L691fs|ZNF268_uc010tcb.1_Frame_Shift_Ins_p.L712fs|ZNF268_uc010tcc.1_Frame_Shift_Ins_p.L691fs|ZNF268_uc010tcd.1_Frame_Shift_Ins_p.L691fs|ZNF268_uc010tce.1_Frame_Shift_Ins_p.L691fs|ZNF268_uc010tcg.1_Frame_Shift_Ins_p.L691fs|ZNF268_uc010tch.1_Frame_Shift_Ins_p.L852fs	p.L852fs	NM_003415	NP_003406	Q14587	ZN268_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	6	2886_2887	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)	852_853			C2H2-type 21.		Q8TDG8|Q96RH4|Q9BZJ9	Frame_Shift_Ins	INS	ENST00000536435.2	37	c.2556_2557insC	CCDS45012.1																																																																																					0.411	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397191.2	NM_152943		4	2	4	2	---	---	---	---
ULK2	9706	broad.mit.edu	37	17	19744820	19744820	+	Frame_Shift_Del	DEL	T	T	-			TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr17:19744820delT	ENST00000395544.4	-	9	1185	c.686delA	c.(685-687)aacfs	p.N229fs	ULK2_ENST00000361658.2_Frame_Shift_Del_p.N229fs	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	229	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TAAGCTCCTGTTTTTTTCATA	0.308																																						uc002gwm.3																			0				skin(2)|large_intestine(1)|stomach(1)	4						c.(685-687)AACfs		unc-51-like kinase 2							105.0	97.0	100.0					17																	19744820		2202	4300	6502	SO:0001589	frameshift_variant	9706				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:19744820delT	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.686delA	17.37:g.19744820delT	ENSP00000378914:p.Asn229fs					ULK2_uc002gwn.2_Frame_Shift_Del_p.N229fs	p.N229fs	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN			9	1195	-	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		229			Protein kinase.		A8MY69|O75119	Frame_Shift_Del	DEL	ENST00000395544.4	37	c.686delA	CCDS11213.1																																																																																					0.308	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683		16	10	16	10	---	---	---	---
ABHD17A	81926	broad.mit.edu	37	19	1881526	1881528	+	In_Frame_Del	DEL	AGA	AGA	-	rs377128884		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr19:1881526_1881528delAGA	ENST00000292577.7	-	2	471_473	c.38_40delTCT	c.(37-42)ttctgc>tgc	p.F13del	ABHD17A_ENST00000590661.1_In_Frame_Del_p.F13del|ABHD17A_ENST00000250974.9_In_Frame_Del_p.F13del	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	13						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.F13delF(1)									GGCGGGCAGCAGAAGAGGCAGCA	0.759																																						uc002lug.2																			1	Deletion - In frame(1)		upper_aerodigestive_tract(1)		0						c.(37-42)TTCTGC>TGC		hypothetical protein LOC81926 isoform 2			,	11,3897		0,11,1943					,	3.7	1.0			11	18,7890		0,18,3936	no	coding,coding	FAM108A1	NM_031213.3,NM_001130111.1	,	0,29,5879	A1A1,A1R,RR		0.2276,0.2815,0.2454	,	,		29,11787				SO:0001651	inframe_deletion	81926					extracellular region	hydrolase activity	g.chr19:1881526_1881528delAGA	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"""Abhydrolase domain containing"""	28756	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 27"", ""family with sequence similarity 108, member A1"""	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.38_40delTCT	19.37:g.1881529_1881531delAGA	ENSP00000292577:p.Phe13del					FAM108A1_uc002lud.2_In_Frame_Del_p.F13del|FAM108A1_uc002lue.2_In_Frame_Del_p.F13del|FAM108A1_uc002luf.2_In_Frame_Del_p.F13del	p.F13del	NM_001130111	NP_001123583	Q96GS6	F18A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	444_446	-		Ovarian(11;0.000137)	13					A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	In_Frame_Del	DEL	ENST00000292577.7	37	c.38_40delTCT	CCDS45902.1																																																																																					0.759	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213		6	3	6	3	---	---	---	---
TSSK2	23617	broad.mit.edu	37	22	19119776	19119776	+	Frame_Shift_Del	DEL	G	G	-	rs139504972		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chr22:19119776delG	ENST00000399635.2	+	1	1456	c.864delG	c.(862-864)gagfs	p.E288fs	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	288					multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					TCAAGAGGGAGGGGGAGGGCA	0.637																																						uc002zow.2																			0				stomach(1)	1						c.(862-864)GAGfs		testis-specific serine kinase 2							48.0	45.0	46.0					22																	19119776		2202	4300	6502	SO:0001589	frameshift_variant	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19119776delG	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"""serine/threonine kinase 22B (spermiogenesis associated)"""	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.864delG	22.37:g.19119776delG	ENSP00000382544:p.Glu288fs					DGCR14_uc002zot.2_3'UTR|DGCR14_uc002zou.2_3'UTR|DGCR14_uc002zov.2_RNA	p.E288fs	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN			1	1456	+	Colorectal(54;0.0993)		288					Q8IY55	Frame_Shift_Del	DEL	ENST00000399635.2	37	c.864delG	CCDS13755.1																																																																																					0.637	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			42	21	42	21	---	---	---	---
SSX8	280659	broad.mit.edu	37	X	52662823	52662824	+	IGR	DEL	AC	AC	-	rs373956811		TCGA-66-2742-01A-01D-0983-08	TCGA-66-2742-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	07047a99-45bd-4df6-ad6f-934a48e8e213	09de7b21-79a1-4b8c-a835-7f7a4481f4d5	g.chrX:52662823_52662824delAC								XAGE1E (116626 upstream) : SSX7 (10315 downstream)																							acaccacacaacacacacacac	0.48																																						uc011mob.1																			0					0								Homo sapiens cDNA FLJ56587 complete cds, highly similar to Protein SSX8.																																				SO:0001628	intergenic_variant	280659							g.chrX:52662823_52662824delAC																													X.37:g.52662833_52662834delAC								NR_027250						8		+									RNA	DEL		37	c.1272_1273delAC																																																																																				0		0.480									4	2	4	2	---	---	---	---
