#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
GPR157	80045	broad.mit.edu	37	1	9188908	9188908	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:9188908G>C	ENST00000377411.4	-	1	321	c.179C>G	c.(178-180)tCg>tGg	p.S60W	GPR157_ENST00000414642.2_Missense_Mutation_p.S60W	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S60W(1)		lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		GGAGGCGGCCGAGAGCAGGTC	0.716																																						uc001apq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(178-180)TCG>TGG		G protein-coupled receptor 157							11.0	11.0	11.0					1																	9188908		2182	4282	6464	SO:0001583	missense	80045					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:9188908G>C	AK022194	CCDS100.2	1p36.22	2012-08-21			ENSG00000180758	ENSG00000180758		"""GPCR / Class B : Orphans"""	23687	protein-coding gene	gene with protein product						10574461	Standard	XM_005263496		Approved	FLJ12132	uc001apq.1	Q5UAW9	OTTHUMG00000001758	ENST00000377411.4:c.179C>G	1.37:g.9188908G>C	ENSP00000366628:p.Ser60Trp					GPR157_uc010oad.1_Missense_Mutation_p.S60W|GPR157_uc001apr.2_Missense_Mutation_p.S60W|GPR157_uc001aps.2_Silent_p.L108L	p.S60W	NM_024980	NP_079256	Q5UAW9	GP157_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)	1	322	-	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	60			Helical; Name=2; (Potential).		A2A334|Q8WWB8|Q9HA73	Missense_Mutation	SNP	ENST00000377411.4	37	c.179C>G	CCDS100.2	.	.	.	.	.	.	.	.	.	.	g	29.2	4.981909	0.93044	.	.	ENSG00000180758	ENST00000377411;ENST00000377408;ENST00000414642	T;T	0.38077	1.16;1.16	4.37	4.37	0.52481	GPCR, family 2-like (1);GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.57858	0.2082	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.63319	-0.6664	10	0.87932	D	0	-17.0442	16.2653	0.82574	0.0:0.0:1.0:0.0	.	60;60;60	E7ENU8;A8KA23;Q5UAW9	.;.;GP157_HUMAN	W	60;79;60	ENSP00000366628:S60W;ENSP00000411172:S60W	ENSP00000366625:S79W	S	-	2	0	GPR157	9111495	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.313000	0.89978	2.154000	0.67381	0.457000	0.33378	TCG		PASS	0.716	GPR157-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127658.2	NM_024980		3	10	3	10	---	---	---	---
EXOSC10	5394	broad.mit.edu	37	1	11158195	11158195	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:11158195C>A	ENST00000376936.4	-	2	179	c.130G>T	c.(130-132)Gtg>Ttg	p.V44L	EXOSC10_ENST00000544779.1_Missense_Mutation_p.V44L|EXOSC10_ENST00000304457.7_Missense_Mutation_p.V44L|RP4-635E18.6_ENST00000447600.1_RNA|RP4-635E18.6_ENST00000435388.1_RNA	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	44					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V44L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GTGACTGCCACCACGGACCCA	0.448																																					Colon(179;105 1987 14326 27364 29542)	uc001asa.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(130-132)GTG>TTG		exosome component 10 isoform 1							64.0	61.0	62.0					1																	11158195		2203	4300	6503	SO:0001583	missense	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11158195C>A	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.130G>T	1.37:g.11158195C>A	ENSP00000366135:p.Val44Leu					EXOSC10_uc001asb.2_Missense_Mutation_p.V44L|EXOSC10_uc009vmy.1_Missense_Mutation_p.V44L	p.V44L	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	2	180	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	44					B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	ENST00000376936.4	37	c.130G>T	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371098	0.42003	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	.	.	.	5.73	3.71	0.42584	Exosome-associated factor Rrp6, N-terminal (1);	0.175303	0.48767	N	0.000162	T	0.66557	0.2801	M	0.66506	2.035	0.58432	D	0.999991	B;B	0.16603	0.018;0.011	B;B	0.20577	0.024;0.03	T	0.66874	-0.5813	9	0.46703	T	0.11	-14.9517	17.0718	0.86576	0.0:0.7449:0.2551:0.0	.	44;44	Q01780-2;Q01780	.;EXOSX_HUMAN	L	44	.	ENSP00000307307:V44L	V	-	1	0	EXOSC10	11080782	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	1.719000	0.38011	1.392000	0.46585	0.561000	0.74099	GTG		PASS	0.448	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		27	47	27	47	---	---	---	---
NBPF1	55672	broad.mit.edu	37	1	16901155	16901155	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:16901155G>A	ENST00000430580.2	-	21	3112	c.2225C>T	c.(2224-2226)cCt>cTt	p.P742L	NBPF1_ENST00000432949.1_Missense_Mutation_p.P200L|NBPF1_ENST00000420031.2_5'Flank|NBPF1_ENST00000287968.8_Missense_Mutation_p.P107L	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	742	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGAGTCCTCAGGGACTTCCTT	0.493																																						uc009vos.1																			0					0						c.(2224-2226)CCT>CTT		hypothetical protein LOC55672							72.0	75.0	74.0					1																	16901155		1508	2696	4204	SO:0001583	missense	55672					cytoplasm		g.chr1:16901155G>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2225C>T	1.37:g.16901155G>A	ENSP00000474456:p.Pro742Leu					NBPF1_uc009vot.1_Missense_Mutation_p.P200L|NBPF1_uc001ayz.1_Missense_Mutation_p.P200L|NBPF1_uc010oce.1_Missense_Mutation_p.P471L	p.P742L	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	21	3113	-			742			NBPF 3.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2225C>T																																																																																					PASS	0.493	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		5	366	5	366	---	---	---	---
CNR2	1269	broad.mit.edu	37	1	24201727	24201727	+	Silent	SNP	G	G	A	rs182168081	byFrequency	TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:24201727G>A	ENST00000374472.4	-	2	542	c.381C>T	c.(379-381)acC>acT	p.T127T	CNR2_ENST00000536471.1_Silent_p.T127T	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	127					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)	p.T127T(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	GGTCAATGGCGGTCAGCAGGA	0.562													G|||	4	0.000798722	0.0	0.0	5008	,	,		21818	0.004		0.0	False		,,,				2504	0.0					uc001bif.2																			2	Substitution - coding silent(2)		lung(2)	skin(2)|central_nervous_system(1)	3						c.(379-381)ACC>ACT		cannabinoid receptor 2 (macrophage)	Nabilone(DB00486)	G		1,4405	2.1+/-5.4	0,1,2202	110.0	101.0	104.0		381	-6.7	0.5	1		104	0,8600		0,0,4300	no	coding-synonymous	CNR2	NM_001841.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		127/361	24201727	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1269				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity	g.chr1:24201727G>A	X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"""GPCR / Class A : Cannabinoid receptors"""	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.381C>T	1.37:g.24201727G>A							p.T127T	NM_001841	NP_001832	P34972	CNR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	2	508	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	127			Helical; Name=3; (Potential).		C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Silent	SNP	ENST00000374472.4	37	c.381C>T	CCDS245.1																																																																																				PASS	0.562	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841		4	90	4	90	---	---	---	---
GRHL3	57822	broad.mit.edu	37	1	24663156	24663156	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:24663156G>T	ENST00000350501.5	+	4	578	c.451G>T	c.(451-453)Ggc>Tgc	p.G151C	GRHL3_ENST00000342072.4_Missense_Mutation_p.G58C|GRHL3_ENST00000356046.2_Missense_Mutation_p.G105C|GRHL3_ENST00000236255.4_Missense_Mutation_p.G156C|GRHL3_ENST00000361548.4_Missense_Mutation_p.G151C|GRHL3_ENST00000530984.1_3'UTR	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	151					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.G156C(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CCTCCCTGCAGGCCCCAGCAA	0.562																																						uc001biy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(466-468)GGC>TGC		sister-of-mammalian grainyhead protein isoform							72.0	82.0	78.0					1																	24663156		2203	4300	6503	SO:0001583	missense	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24663156G>T	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.451G>T	1.37:g.24663156G>T	ENSP00000288955:p.Gly151Cys					GRHL3_uc001bix.2_Missense_Mutation_p.G151C|GRHL3_uc001biz.2_Missense_Mutation_p.G58C	p.G156C	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	4	512	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	151					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.466G>T	CCDS252.2	.	.	.	.	.	.	.	.	.	.	G	17.69	3.450723	0.63290	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.14266	2.9;2.52;2.88;2.91;2.9	6.02	5.1	0.69264	.	0.344830	0.30227	N	0.010113	T	0.34454	0.0898	M	0.62723	1.935	0.39409	D	0.966722	D;D;D	0.89917	0.998;1.0;1.0	P;D;D	0.68943	0.87;0.961;0.961	T	0.12993	-1.0526	10	0.54805	T	0.06	-16.1195	15.8908	0.79296	0.0:0.0:0.8639:0.1361	.	105;156;151	A2A297;Q8TE85-2;G3XAF0	.;.;.	C	151;58;151;105;156	ENSP00000354943:G151C;ENSP00000340543:G58C;ENSP00000288955:G151C;ENSP00000348333:G105C;ENSP00000236255:G156C	ENSP00000236255:G156C	G	+	1	0	GRHL3	24535743	0.972000	0.33761	0.894000	0.35097	0.414000	0.31173	1.689000	0.37700	1.541000	0.49316	0.655000	0.94253	GGC		PASS	0.562	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		119	172	119	172	---	---	---	---
AIM1L	55057	broad.mit.edu	37	1	26664162	26664162	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:26664162C>A	ENST00000308182.5	-	8	805	c.376G>T	c.(376-378)Gtg>Ttg	p.V126L	AIM1L_ENST00000527815.1_Missense_Mutation_p.V297L|AIM1L_ENST00000522993.1_5'UTR			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	126	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.						carbohydrate binding (GO:0030246)	p.V126L(1)|p.V297L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TCATACACCACAGCCTGGGGG	0.632																																						uc001bmd.3																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(376-378)GTG>TTG		absent in melanoma 1-like							28.0	28.0	28.0					1																	26664162		2203	4300	6503	SO:0001583	missense	55057						sugar binding	g.chr1:26664162C>A			1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"""beta-gamma crystallin domain containing 2"""						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.376G>T	1.37:g.26664162C>A	ENSP00000310435:p.Val126Leu					AIM1L_uc001bmf.3_Missense_Mutation_p.V17L	p.V126L	NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)	8	806	-		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	126			Beta/gamma crystallin 'Greek key' 3.		B2RNG3|Q5T137|Q5T150	Missense_Mutation	SNP	ENST00000308182.5	37	c.376G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.62|11.62	1.691704|1.691704	0.30052|0.30052	.|.	.|.	ENSG00000176092|ENSG00000176092	ENST00000429942|ENST00000527815;ENST00000308182	.|T;T	.|0.75154	.|-0.91;-0.91	4.38|4.38	3.42|3.42	0.39159|0.39159	.|Beta/gamma crystallin (4);Gamma-crystallin-related (1);	.|0.366041	.|0.28754	.|N	.|0.014252	T|T	0.63117|0.63117	0.2484|0.2484	L|L	0.31420|0.31420	0.93|0.93	0.80722|0.80722	D|D	1|1	.|B;B	.|0.15930	.|0.015;0.0	.|B;B	.|0.29785	.|0.107;0.004	T|T	0.59311|0.59311	-0.7478|-0.7478	5|10	.|0.32370	.|T	.|0.25	.|.	10.6484|10.6484	0.45634|0.45634	0.0:0.6353:0.3646:0.0|0.0:0.6353:0.3646:0.0	.|.	.|43;126	.|Q9NTH7;Q8N1P7	.|.;AIM1L_HUMAN	F|L	63|297;126	.|ENSP00000433931:V297L;ENSP00000310435:V126L	.|ENSP00000310435:V126L	C|V	-|-	2|1	0|0	AIM1L|AIM1L	26536749|26536749	0.057000|0.057000	0.20700|0.20700	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	0.355000|0.355000	0.20163|0.20163	2.286000|2.286000	0.76751|0.76751	0.561000|0.561000	0.74099|0.74099	TGT|GTG		PASS	0.632	AIM1L-201	KNOWN	basic	protein_coding	protein_coding		NM_001039775.2		20	24	20	24	---	---	---	---
TMEM222	84065	broad.mit.edu	37	1	27648883	27648883	+	Splice_Site	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:27648883G>T	ENST00000374076.4	+	1	232		c.e1+1		RNU6-48P_ENST00000384161.1_RNA|TMEM222_ENST00000608611.1_Splice_Site	NM_032125.2	NP_115501.2	Q9H0R3	TM222_HUMAN	transmembrane protein 222							integral component of membrane (GO:0016021)		p.?(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						CGGTGCTCACGTGAGTCTCTT	0.672																																						uc001bnr.3																			1	Unknown(1)		lung(1)		0						c.e1+1		transmembrane protein 222							27.0	24.0	25.0					1																	27648883		2200	4299	6499	SO:0001630	splice_region_variant	84065					integral to membrane	protein binding	g.chr1:27648883G>T	AL136683	CCDS297.2	1p36.11	2008-07-07	2008-07-07	2008-07-07	ENSG00000186501	ENSG00000186501			25363	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 160"""	C1orf160		11230166	Standard	NM_032125		Approved	DKFZP564D0478	uc001bnr.4	Q9H0R3	OTTHUMG00000004410	ENST00000374076.4:c.194+1G>T	1.37:g.27648883G>T						TMEM222_uc001bns.3_Splice_Site|TMEM222_uc001bnt.3_Splice_Site|TMEM222_uc001bnu.3_Splice_Site	p.T65_splice	NM_032125	NP_115501	Q9H0R3	TM222_HUMAN			1	247	+								D3DPL6|Q53HD8|Q5FVE9	Splice_Site	SNP	ENST00000374076.4	37	c.194_splice	CCDS297.2	.	.	.	.	.	.	.	.	.	.	G	33	5.280386	0.95489	.	.	ENSG00000186501	ENST00000374076;ENST00000374073;ENST00000466759;ENST00000464813;ENST00000498220	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9469	0.71039	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM222	27521470	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.395000	0.79876	2.300000	0.77407	0.561000	0.74099	.		PASS	0.672	TMEM222-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012809.2	NM_032125	Intron	5	5	5	5	---	---	---	---
IQCC	55721	broad.mit.edu	37	1	32673382	32673382	+	Missense_Mutation	SNP	G	G	T	rs149820318		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:32673382G>T	ENST00000291358.6	+	5	1121	c.1100G>T	c.(1099-1101)cGa>cTa	p.R367L	RP4-622L5.7_ENST00000373604.4_RNA|RP4-622L5.7_ENST00000421616.1_RNA|IQCC_ENST00000537469.1_Missense_Mutation_p.R447L|DCDC2B_ENST00000409358.1_5'Flank	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	367								p.R367L(1)		endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCTGACTGCCGAACAGTCAGG	0.527																																						uc001bum.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1099-1101)CGA>CTA		IQ motif containing C isoform 2							78.0	85.0	82.0					1																	32673382		2203	4300	6503	SO:0001583	missense	55721							g.chr1:32673382G>T	AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.1100G>T	1.37:g.32673382G>T	ENSP00000291358:p.Arg367Leu					IQCC_uc009vua.2_Missense_Mutation_p.R447L|IQCC_uc010ogz.1_Missense_Mutation_p.R267L|DCDC2B_uc001bun.2_5'Flank	p.R367L	NM_018134	NP_060604	Q4KMZ1	IQCC_HUMAN			5	1147	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	367					F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Missense_Mutation	SNP	ENST00000291358.6	37	c.1100G>T	CCDS355.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.234939	0.39498	.	.	ENSG00000160051	ENST00000537469;ENST00000291358	T;T	0.25912	1.77;1.82	3.65	-1.44	0.08856	.	0.293026	0.24861	N	0.035015	T	0.12305	0.0299	N	0.19112	0.55	0.09310	N	1	B;B	0.16802	0.019;0.019	B;B	0.14023	0.01;0.01	T	0.11991	-1.0565	10	0.56958	D	0.05	-3.5771	4.4184	0.11468	0.6084:0.1724:0.2192:0.0	.	447;367	F5H7T8;Q4KMZ1	.;IQCC_HUMAN	L	447;367	ENSP00000442291:R447L;ENSP00000291358:R367L	ENSP00000291358:R367L	R	+	2	0	IQCC	32445969	0.023000	0.18921	0.003000	0.11579	0.031000	0.12232	0.355000	0.20163	-0.277000	0.09193	-1.169000	0.01745	CGA		PASS	0.527	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134		85	147	85	147	---	---	---	---
EXO5	64789	broad.mit.edu	37	1	40980595	40980595	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:40980595G>T	ENST00000372703.1	+	2	1453	c.379G>T	c.(379-381)Gaa>Taa	p.E127*	RP11-656D10.6_ENST00000437060.1_RNA|EXO5_ENST00000296380.4_Nonsense_Mutation_p.E127*|EXO5_ENST00000358527.2_Nonsense_Mutation_p.E127*|RP11-656D10.5_ENST00000453437.1_RNA			Q9H790	EXO5_HUMAN	exonuclease 5	127					DNA catabolic process, exonucleolytic (GO:0000738)|interstrand cross-link repair (GO:0036297)	cytosol (GO:0005829)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)	p.E127*(1)									TAGAGAACTAGAACTTCATGA	0.468																																						uc001cfp.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(379-381)GAA>TAA		defects in morphology 1 homolog							74.0	70.0	71.0					1																	40980595		2203	4300	6503	SO:0001587	stop_gained	64789						DNA binding|exonuclease activity	g.chr1:40980595G>T	AK024797	CCDS453.1	1p34.2	2012-11-02	2012-10-30	2012-10-30	ENSG00000164002	ENSG00000164002			26115	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 176"", ""defects in morphology 1 homolog (S. cerevisiae)"""	C1orf176, DEM1		23095756	Standard	NM_022774		Approved	FLJ21144	uc001cfp.3	Q9H790	OTTHUMG00000007305	ENST00000372703.1:c.379G>T	1.37:g.40980595G>T	ENSP00000361788:p.Glu127*					DEM1_uc001cfq.2_Nonsense_Mutation_p.E127*|DEM1_uc001cfr.2_Nonsense_Mutation_p.E127*|DEM1_uc001cfs.2_Nonsense_Mutation_p.E127*	p.E127*	NM_022774	NP_073611	Q9H790	EXO5_HUMAN			3	584	+			127					D3DPV4|Q5SWM7|Q5SWM8|Q5SWM9|Q5SWN0|Q5SWN1|Q8WTW9	Nonsense_Mutation	SNP	ENST00000372703.1	37	c.379G>T	CCDS453.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891476	0.91889	.	.	ENSG00000164002	ENST00000358527;ENST00000372703;ENST00000420209;ENST00000296380;ENST00000418186;ENST00000415550;ENST00000443729;ENST00000419161	.	.	.	4.97	4.04	0.47022	.	0.000000	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	11.4117	0.49929	0.0:0.182:0.818:0.0	.	.	.	.	X	127	.	ENSP00000296380:E127X	E	+	1	0	DEM1	40753182	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.538000	0.67193	1.431000	0.47355	0.650000	0.86243	GAA		PASS	0.468	EXO5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019087.1	NM_022774		35	147	35	147	---	---	---	---
USP24	23358	broad.mit.edu	37	1	55566598	55566598	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:55566598C>T	ENST00000294383.6	-	44	5184	c.5185G>A	c.(5185-5187)Gat>Aat	p.D1729N	USP24_ENST00000407756.1_Missense_Mutation_p.D1569N	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1729	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.D1646N(1)|p.D1729N(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AACACGCTATCATCTGGATTG	0.378																																						uc001cyg.3																			2	Substitution - Missense(2)		lung(2)	ovary(6)|kidney(6)|breast(1)	13						c.(4705-4707)GAT>AAT		ubiquitin specific protease 24							120.0	115.0	117.0					1																	55566598		1883	4103	5986	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55566598C>T	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.5185G>A	1.37:g.55566598C>T	ENSP00000294383:p.Asp1729Asn						p.D1569N	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN			41	4705	-			1729					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.4705G>A	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869459	0.72065	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.29655	1.56;1.56	5.68	5.68	0.88126	.	0.048439	0.85682	D	0.000000	T	0.36110	0.0955	L	0.54863	1.705	0.58432	D	0.999991	P	0.35226	0.491	B	0.37780	0.258	T	0.04664	-1.0935	10	0.30854	T	0.27	.	19.7964	0.96487	0.0:1.0:0.0:0.0	.	1569	B7WPF4	.	N	1729;1569	ENSP00000294383:D1729N;ENSP00000385700:D1569N	ENSP00000294383:D1729N	D	-	1	0	USP24	55339186	1.000000	0.71417	0.948000	0.38648	0.447000	0.32167	7.487000	0.81328	2.683000	0.91414	0.555000	0.69702	GAT		PASS	0.378	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			10	99	10	99	---	---	---	---
FPGT	8790	broad.mit.edu	37	1	74665364	74665364	+	Silent	SNP	T	T	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:74665364T>C	ENST00000609362.1	+	2	136	c.99T>C	c.(97-99)cgT>cgC	p.R33R	FPGT_ENST00000467578.2_Silent_p.R46R|TNNI3K_ENST00000370891.2_Silent_p.R33R|FPGT_ENST00000534056.1_Silent_p.R33R|FPGT_ENST00000370894.5_Silent_p.R33R|LRRIQ3_ENST00000370909.2_5'Flank|FPGT_ENST00000370898.3_Silent_p.R46R|LRRIQ3_ENST00000354431.4_5'Flank|FPGT-TNNI3K_ENST00000370895.1_Silent_p.R33R|FPGT-TNNI3K_ENST00000370893.1_Silent_p.R33R|FPGT-TNNI3K_ENST00000533006.1_3'UTR|FPGT_ENST00000482102.2_Silent_p.R55R|FPGT_ENST00000524915.1_3'UTR|LRRIQ3_ENST00000370911.3_5'Flank|FPGT-TNNI3K_ENST00000557284.2_Silent_p.R46R|FPGT-TNNI3K_ENST00000370899.3_Silent_p.R33R	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	33					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)	p.R33R(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TTGTAGCACGTGGAGAATTCT	0.378																																						uc001dge.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(97-99)CGT>CGC		TNNI3 interacting kinase isoform a							96.0	96.0	96.0					1																	74665364		2203	4300	6503	SO:0001819	synonymous_variant	51086					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74665364T>C	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.99T>C	1.37:g.74665364T>C						LRRIQ3_uc001dfy.3_5'Flank|LRRIQ3_uc001dfz.3_5'Flank|TNNI3K_uc001dgc.1_Silent_p.R33R|TNNI3K_uc001dgd.2_Silent_p.R33R|FPGT_uc010oqt.1_5'UTR|FPGT_uc010oqu.1_Silent_p.R33R|FPGT_uc001dgb.1_Silent_p.R33R|FPGT_uc010oqv.1_Silent_p.R33R	p.R33R	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN			2	115	+			Error:Variant_position_missing_in_Q59H18_after_alignment					A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Silent	SNP	ENST00000609362.1	37	c.99T>C	CCDS663.1																																																																																				PASS	0.378	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				50	106	50	106	---	---	---	---
MCOLN2	255231	broad.mit.edu	37	1	85422122	85422122	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:85422122A>G	ENST00000370608.3	-	4	624	c.557T>C	c.(556-558)gTt>gCt	p.V186A	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.V158A	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	186					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V186A(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		ACCGAGCTCAACGTCGTTGTC	0.393																																						uc001dkm.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(556-558)GTT>GCT		mucolipin 2							221.0	202.0	208.0					1																	85422122		2203	4300	6503	SO:0001583	missense	255231					integral to membrane	ion channel activity	g.chr1:85422122A>G	AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.557T>C	1.37:g.85422122A>G	ENSP00000359640:p.Val186Ala					MCOLN2_uc001dkn.2_RNA	p.V186A	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN		all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)	4	798	-			186					A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	ENST00000370608.3	37	c.557T>C	CCDS30762.1	.	.	.	.	.	.	.	.	.	.	A	7.135	0.580725	0.13686	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	T;T	0.61392	0.11;0.11	5.06	2.73	0.32206	.	0.725725	0.13377	N	0.392404	T	0.33789	0.0875	M	0.67397	2.05	0.09310	N	1	B	0.17038	0.02	B	0.19148	0.024	T	0.34279	-0.9835	10	0.38643	T	0.18	-45.3516	9.2528	0.37564	0.8497:0.0:0.1503:0.0	.	186	Q8IZK6	MCLN2_HUMAN	A	186;158	ENSP00000359640:V186A;ENSP00000284027:V158A	ENSP00000284027:V158A	V	-	2	0	MCOLN2	85194710	0.596000	0.26866	0.030000	0.17652	0.001000	0.01503	3.186000	0.50942	0.355000	0.24131	-0.263000	0.10527	GTT		PASS	0.393	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	NM_153259		100	110	100	110	---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94496616	94496616	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:94496616A>C	ENST00000370225.3	-	28	4275	c.4189T>G	c.(4189-4191)Ttt>Gtt	p.F1397V		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1397					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.F1397V(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)		TATTCGCCAAAAGGAGGGATA	0.517																																						uc001dqh.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(4189-4191)TTT>GTT		ATP-binding cassette, sub-family A member 4							129.0	108.0	115.0					1																	94496616		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94496616A>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.4189T>G	1.37:g.94496616A>C	ENSP00000359245:p.Phe1397Val						p.F1397V	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	28	4293	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1397			Helical; (Potential).		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.4189T>G	CCDS747.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.068216	0.76301	.	.	ENSG00000198691	ENST00000546054;ENST00000370225	D	0.93547	-3.24	5.0	5.0	0.66597	.	0.161726	0.56097	D	0.000031	D	0.94843	0.8334	M	0.63428	1.95	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	D	0.95220	0.8333	10	0.59425	D	0.04	.	14.8741	0.70481	1.0:0.0:0.0:0.0	.	1397	P78363	ABCA4_HUMAN	V	189;1397	ENSP00000359245:F1397V	ENSP00000359245:F1397V	F	-	1	0	ABCA4	94269204	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	9.107000	0.94261	2.111000	0.64477	0.533000	0.62120	TTT		PASS	0.517	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		19	23	19	23	---	---	---	---
S1PR1	1901	broad.mit.edu	37	1	101704932	101704932	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:101704932C>A	ENST00000305352.6	+	2	767	c.392C>A	c.(391-393)tCc>tAc	p.S131Y	RP4-575N6.4_ENST00000432195.1_RNA|S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	131					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.S131Y(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CTGTCAGCCTCCGTGTTCAGT	0.537											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001dud.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(391-393)TCC>TAC		sphingosine-1-phosphate receptor 1							89.0	83.0	85.0					1																	101704932		2203	4300	6503	SO:0001583	missense	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101704932C>A	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.392C>A	1.37:g.101704932C>A	ENSP00000305416:p.Ser131Tyr		OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1360	S1PR1_uc009weg.2_Missense_Mutation_p.S131Y	p.S131Y	NM_001400	NP_001391	P21453	S1PR1_HUMAN			2	906	+			131			Helical; Name=3; (By similarity).		D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	c.392C>A	CCDS777.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039553	0.75732	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.56103	0.48	5.61	5.61	0.85477	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.81749	0.4888	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87926	0.2707	10	0.87932	D	0	.	19.6379	0.95744	0.0:1.0:0.0:0.0	.	131	P21453	S1PR1_HUMAN	Y	131	ENSP00000305416:S131Y	ENSP00000305416:S131Y	S	+	2	0	S1PR1	101477520	1.000000	0.71417	0.358000	0.25811	0.784000	0.44337	7.818000	0.86416	2.640000	0.89533	0.455000	0.32223	TCC		PASS	0.537	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		41	57	41	57	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103405902	103405902	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:103405902G>T	ENST00000370096.3	-	43	3677	c.3365C>A	c.(3364-3366)cCt>cAt	p.P1122H	COL11A1_ENST00000512756.1_Missense_Mutation_p.P1006H|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1083H|COL11A1_ENST00000358392.2_Missense_Mutation_p.P1134H	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1122	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.P1122H(1)|p.P1134H(1)|p.P1122L(1)|p.P1134L(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTCTTCCCCAGGGGAGCCGGC	0.463																																						uc001dul.2																			4	Substitution - Missense(4)		lung(4)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(3364-3366)CCT>CAT		alpha 1 type XI collagen isoform A							54.0	59.0	57.0					1																	103405902		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103405902G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3365C>A	1.37:g.103405902G>T	ENSP00000359114:p.Pro1122His					COL11A1_uc001duk.2_Missense_Mutation_p.P318H|COL11A1_uc001dum.2_Missense_Mutation_p.P1134H|COL11A1_uc001dun.2_Missense_Mutation_p.P1083H|COL11A1_uc009weh.2_Missense_Mutation_p.P1006H	p.P1122H	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	43	3683	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1122			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3365C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.379795	0.42207	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.96774	-4.12;-4.12;-4.12;-4.12	5.46	5.46	0.80206	.	0.060728	0.64402	D	0.000002	D	0.98498	0.9499	M	0.89534	3.04	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.998;0.999;0.997;0.999	D	0.99418	1.0932	10	0.87932	D	0	.	19.3174	0.94220	0.0:0.0:1.0:0.0	.	1006;1083;1134;1122;342	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	H	1122;1134;1083;342;1006	ENSP00000359114:P1122H;ENSP00000351163:P1134H;ENSP00000302551:P1083H;ENSP00000426533:P1006H	ENSP00000302551:P1083H	P	-	2	0	COL11A1	103178490	1.000000	0.71417	0.997000	0.53966	0.081000	0.17604	9.869000	0.99810	2.569000	0.86673	0.650000	0.86243	CCT		PASS	0.463	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		43	54	43	54	---	---	---	---
HIST2H2AC	8338	broad.mit.edu	37	1	149858886	149858886	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:149858886C>A	ENST00000331380.2	+	1	362	c.362C>A	c.(361-363)aCc>aAc	p.T121N	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	121						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T121N(1)|p.T121I(1)		NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCAAAGAAAACCGAAAGCCAC	0.473																																						uc001etd.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(361-363)ACC>AAC		histone cluster 2, H2ac							75.0	78.0	77.0					1																	149858886		2203	4300	6503	SO:0001583	missense	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858886C>A	AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.362C>A	1.37:g.149858886C>A	ENSP00000332194:p.Thr121Asn					HIST2H2BE_uc001etc.2_5'Flank	p.T121N	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	362	+	Breast(34;0.0124)|all_hematologic(923;0.127)		121					Q6DRA7|Q8IUE5	Missense_Mutation	SNP	ENST00000331380.2	37	c.362C>A	CCDS937.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.415759	0.25552	.	.	ENSG00000184260	ENST00000331380	T	0.46451	0.87	4.97	4.06	0.47325	Histone-fold (2);Histone H2A (1);	0.000000	0.45606	D	0.000345	T	0.32224	0.0822	M	0.83603	2.65	0.41685	D	0.989312	B	0.02656	0.0	B	0.08055	0.003	T	0.40608	-0.9554	10	0.72032	D	0.01	.	12.1419	0.54002	0.0:0.9153:0.0:0.0847	.	121	Q16777	H2A2C_HUMAN	N	121	ENSP00000332194:T121N	ENSP00000332194:T121N	T	+	2	0	HIST2H2AC	148125510	1.000000	0.71417	0.666000	0.29783	0.983000	0.72400	4.761000	0.62243	1.119000	0.41883	0.505000	0.49811	ACC		PASS	0.473	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		47	112	47	112	---	---	---	---
SETDB1	9869	broad.mit.edu	37	1	150900289	150900289	+	Silent	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:150900289G>T	ENST00000271640.5	+	2	289	c.99G>T	c.(97-99)ctG>ctT	p.L33L	SETDB1_ENST00000368963.1_Silent_p.L33L|SETDB1_ENST00000368969.4_Silent_p.L33L|SETDB1_ENST00000368962.2_Silent_p.L33L|SETDB1_ENST00000459773.1_3'UTR	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	33					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.L33L(1)		NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTGAGGAACTGGGTATCTCTA	0.493																																						uc001evu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(97-99)CTG>CTT		SET domain, bifurcated 1 isoform 1							171.0	163.0	166.0					1																	150900289		2203	4300	6503	SO:0001819	synonymous_variant	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150900289G>T	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.99G>T	1.37:g.150900289G>T						SETDB1_uc009wmf.2_Silent_p.L33L|SETDB1_uc001evv.2_Silent_p.L33L|SETDB1_uc001evw.3_Silent_p.L33L|SETDB1_uc009wmg.1_Silent_p.L33L	p.L33L	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		2	289	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		33			Potential.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Silent	SNP	ENST00000271640.5	37	c.99G>T	CCDS44217.1																																																																																				PASS	0.493	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			112	202	112	202	---	---	---	---
LYSMD1	388695	broad.mit.edu	37	1	151133379	151133379	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:151133379C>A	ENST00000368908.5	-	3	1323	c.663G>T	c.(661-663)gaG>gaT	p.E221D	LYSMD1_ENST00000440902.2_Missense_Mutation_p.E173D	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain containing 1	221								p.E221D(1)		endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGATTTCATCCTCCTGGTCCC	0.562																																						uc001ewy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(661-663)GAG>GAT		LysM, putative peptidoglycan-binding, domain							110.0	108.0	109.0					1																	151133379		2203	4300	6503	SO:0001583	missense	388695				cell wall macromolecule catabolic process			g.chr1:151133379C>A	BX647911	CCDS986.1, CCDS44218.1	1q21.2	2008-02-05			ENSG00000163155	ENSG00000163155			32070	protein-coding gene	gene with protein product						12477932	Standard	NM_212551		Approved	SB145, MGC35223, RP11-68I18.5	uc001ewy.3	Q96S90	OTTHUMG00000012260	ENST00000368908.5:c.663G>T	1.37:g.151133379C>A	ENSP00000357904:p.Glu221Asp					LYSMD1_uc010pcr.1_Missense_Mutation_p.E173D	p.E221D	NM_212551	NP_997716	Q96S90	LYSM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		3	1299	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		221					B4DQA1|Q69YX9	Missense_Mutation	SNP	ENST00000368908.5	37	c.663G>T	CCDS986.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214431	0.79352	.	.	ENSG00000163155	ENST00000368908;ENST00000440902	T;T	0.58797	0.31;0.55	5.56	-2.47	0.06442	.	0.000000	0.85682	D	0.000000	T	0.60971	0.2310	M	0.72894	2.215	0.39177	D	0.962703	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.68040	-0.5514	10	0.87932	D	0	-9.3952	11.4994	0.50428	0.0:0.4647:0.0:0.5353	.	173;221	Q96S90-2;Q96S90	.;LYSM1_HUMAN	D	221;173	ENSP00000357904:E221D;ENSP00000404059:E173D	ENSP00000357904:E221D	E	-	3	2	LYSMD1	149400003	0.999000	0.42202	0.991000	0.47740	0.999000	0.98932	0.577000	0.23758	-0.322000	0.08615	0.650000	0.86243	GAG		PASS	0.562	LYSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034070.3	NM_212551		93	180	93	180	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152327240	152327240	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:152327240G>T	ENST00000388718.5	-	3	3094	c.3022C>A	c.(3022-3024)Cag>Aag	p.Q1008K	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1008	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.Q1008K(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGATGACTGACTTGAGCCA	0.478																																						uc001ezw.3																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(3022-3024)CAG>AAG		filaggrin family member 2							307.0	302.0	304.0					1																	152327240		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152327240G>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3022C>A	1.37:g.152327240G>T	ENSP00000373370:p.Gln1008Lys					uc001ezv.2_Intron	p.Q1008K	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3095	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1008			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.3022C>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	0.430	-0.903658	0.02453	.	.	ENSG00000143520	ENST00000388718	T	0.22336	1.96	4.52	2.53	0.30540	.	.	.	.	.	T	0.05777	0.0151	M	0.68593	2.085	0.09310	N	1	P	0.37330	0.59	B	0.33196	0.159	T	0.38067	-0.9678	9	0.07325	T	0.83	-0.4288	7.2419	0.26102	0.0:0.1887:0.6162:0.1951	.	1008	Q5D862	FILA2_HUMAN	K	1008	ENSP00000373370:Q1008K	ENSP00000373370:Q1008K	Q	-	1	0	FLG2	150593864	0.066000	0.20996	0.003000	0.11579	0.012000	0.07955	0.923000	0.28757	0.288000	0.22398	0.563000	0.77884	CAG		PASS	0.478	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		248	470	248	470	---	---	---	---
DENND4B	9909	broad.mit.edu	37	1	153915407	153915407	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:153915407C>G	ENST00000361217.4	-	3	935	c.517G>C	c.(517-519)Gag>Cag	p.E173Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	173	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.A124A(1)|p.E173Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGAGTGCCCTCGCCCTTACTG	0.647																																						uc001fdd.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)	1						c.(517-519)GAG>CAG		DENN/MADD domain containing 4B							32.0	38.0	36.0					1																	153915407		2069	4185	6254	SO:0001583	missense	9909							g.chr1:153915407C>G	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.517G>C	1.37:g.153915407C>G	ENSP00000354597:p.Glu173Gln						p.E173Q	NM_014856	NP_055671	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		3	918	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		173			MABP.		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.517G>C	CCDS44228.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.8|21.8	4.197876|4.197876	0.79015|0.79015	.|.	.|.	ENSG00000198837|ENSG00000198837	ENST00000361217;ENST00000368646|ENST00000472932	T;T|.	0.33865|.	1.39;1.39|.	4.81|4.81	3.89|3.89	0.44902|0.44902	uDENN (1);MABP domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.65688|0.65688	0.2715|0.2715	M|M	0.78049|0.78049	2.395|2.395	0.58432|0.58432	D|D	0.999997|0.999997	D|.	0.76494|.	0.999|.	D|.	0.81914|.	0.995|.	T|T	0.68511|0.68511	-0.5389|-0.5389	9|5	0.87932|.	D|.	0|.	-8.8298|-8.8298	13.3498|13.3498	0.60595|0.60595	0.1594:0.8406:0.0:0.0|0.1594:0.8406:0.0:0.0	.|.	173|.	O75064|.	DEN4B_HUMAN|.	Q|P	173;184|78	ENSP00000354597:E173Q;ENSP00000357635:E184Q|.	ENSP00000354597:E173Q|.	E|R	-|-	1|2	0|0	DENND4B|DENND4B	152182031|152182031	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.993000|0.993000	0.82548|0.82548	7.451000|7.451000	0.80668|0.80668	1.220000|1.220000	0.43490|0.43490	0.563000|0.563000	0.77884|0.77884	GAG|CGA		PASS	0.647	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		14	22	14	22	---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	153984798	153984798	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:153984798T>A	ENST00000368559.3	-	34	4773	c.4702A>T	c.(4702-4704)Act>Tct	p.T1568S	NUP210L_ENST00000271854.3_Missense_Mutation_p.T1568S|NUP210L_ENST00000368553.1_Missense_Mutation_p.T501S	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1568					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.T1568S(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GTGAGATAAGTCTTGAGGTCA	0.403																																						uc001fdw.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(4702-4704)ACT>TCT		nucleoporin 210kDa-like isoform 1							327.0	292.0	304.0					1																	153984798		1957	4163	6120	SO:0001583	missense	91181					integral to membrane		g.chr1:153984798T>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.4702A>T	1.37:g.153984798T>A	ENSP00000357547:p.Thr1568Ser					NUP210L_uc009woq.2_Missense_Mutation_p.T477S|NUP210L_uc010peh.1_Missense_Mutation_p.T1568S	p.T1568S	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		34	4774	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1568					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.4702A>T	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	T	10.47	1.359437	0.24598	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.21191	3.56;2.02;3.32	6.0	6.0	0.97389	.	0.290391	0.30356	N	0.009816	T	0.07908	0.0198	L	0.57536	1.79	0.24879	N	0.992234	B;B	0.17465	0.022;0.009	B;B	0.11329	0.006;0.004	T	0.37009	-0.9724	10	0.06365	T	0.9	-30.4516	13.9332	0.64010	0.0:0.0:0.0:1.0	.	1568;1568	E7EP56;Q5VU65	.;P210L_HUMAN	S	1568;501;1568	ENSP00000357547:T1568S;ENSP00000357541:T501S;ENSP00000271854:T1568S	ENSP00000271854:T1568S	T	-	1	0	NUP210L	152251422	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.787000	0.47798	2.313000	0.78055	0.454000	0.30748	ACT		PASS	0.403	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		92	215	92	215	---	---	---	---
SYT11	23208	broad.mit.edu	37	1	155838148	155838148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:155838148G>T	ENST00000368324.4	+	2	680	c.427G>T	c.(427-429)Gag>Tag	p.E143*	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	143					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.E143*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GACCCCTGGGGAGAGCAAAAC	0.507																																						uc001fmg.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(427-429)GAG>TAG		synaptotagmin XI							101.0	101.0	101.0					1																	155838148		2203	4300	6503	SO:0001587	stop_gained	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155838148G>T	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.427G>T	1.37:g.155838148G>T	ENSP00000357307:p.Glu143*					SYT11_uc010pgq.1_Intron	p.E143*	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		2	690	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		143			Cytoplasmic (Potential).		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Nonsense_Mutation	SNP	ENST00000368324.4	37	c.427G>T	CCDS1122.1	.	.	.	.	.	.	.	.	.	.	G	35	5.590384	0.96590	.	.	ENSG00000132718	ENST00000368324	.	.	.	5.35	5.35	0.76521	.	0.314599	0.33327	N	0.005025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	12.2123	0.54386	0.0783:0.0:0.9217:0.0	.	.	.	.	X	143	.	ENSP00000357307:E143X	E	+	1	0	SYT11	154104772	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	5.379000	0.66196	2.781000	0.95711	0.655000	0.94253	GAG		PASS	0.507	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		78	174	78	174	---	---	---	---
INSRR	3645	broad.mit.edu	37	1	156821831	156821831	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:156821831G>A	ENST00000368195.3	-	3	1186	c.790C>T	c.(790-792)Cca>Tca	p.P264S	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	264					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P264S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TAGGTGCCTGGCGGGCAGGCC	0.662																																						uc010pht.1																			1	Substitution - Missense(1)		lung(1)	lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20						c.(790-792)CCA>TCA		insulin receptor-related receptor precursor							21.0	21.0	21.0					1																	156821831		2191	4282	6473	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156821831G>A	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.790C>T	1.37:g.156821831G>A	ENSP00000357178:p.Pro264Ser					NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.P264S	p.P264S	NM_014215	NP_055030	P14616	INSRR_HUMAN			3	1044	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		264					O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.790C>T	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053978	0.36277	.	.	ENSG00000027644	ENST00000368195	D	0.84070	-1.8	4.62	3.63	0.41609	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.617577	0.13826	N	0.360053	T	0.62527	0.2435	.	.	.	0.09310	N	0.999999	B	0.28128	0.201	B	0.23018	0.043	T	0.58875	-0.7559	9	0.45353	T	0.12	.	13.879	0.63672	0.0:0.0:0.8369:0.1631	.	264	P14616	INSRR_HUMAN	S	264	ENSP00000357178:P264S	ENSP00000357178:P264S	P	-	1	0	INSRR	155088455	0.000000	0.05858	1.000000	0.80357	0.867000	0.49689	0.296000	0.19083	2.419000	0.82065	0.456000	0.33151	CCA		PASS	0.662	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		17	36	17	36	---	---	---	---
OR10R2	343406	broad.mit.edu	37	1	158450404	158450404	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:158450404T>C	ENST00000368152.1	+	1	737	c.737T>C	c.(736-738)cTg>cCg	p.L246P	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L246P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					AGGACTATCCTGAAGATTCCC	0.433																																						uc010pik.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|skin(1)	3						c.(736-738)CTG>CCG		olfactory receptor, family 10, subfamily R,							158.0	133.0	141.0					1																	158450404		2203	4300	6503	SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450404T>C	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.737T>C	1.37:g.158450404T>C	ENSP00000357134:p.Leu246Pro					uc001fso.1_RNA	p.L246P	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN			1	737	+	all_hematologic(112;0.0378)		246			Cytoplasmic (Potential).		Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.737T>C	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	t	15.02	2.708057	0.48412	.	.	ENSG00000198965	ENST00000368152	T	0.00321	8.11	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00552	0.0018	H	0.94658	3.565	0.46279	D	0.998961	D	0.76494	0.999	D	0.79108	0.992	T	0.51553	-0.8691	9	0.87932	D	0	.	12.409	0.55455	0.0:0.0:0.0:1.0	.	246	Q8NGX6	O10R2_HUMAN	P	246	ENSP00000357134:L246P	ENSP00000357134:L246P	L	+	2	0	OR10R2	156717028	0.546000	0.26457	1.000000	0.80357	0.797000	0.45037	4.405000	0.59741	1.735000	0.51646	0.533000	0.62120	CTG		PASS	0.433	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		87	172	87	172	---	---	---	---
FCER1A	2205	broad.mit.edu	37	1	159275932	159275932	+	Silent	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:159275932C>T	ENST00000368115.1	+	5	585	c.486C>T	c.(484-486)tcC>tcT	p.S162S	FCER1A_ENST00000368114.1_Silent_p.S129S	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	162	Ig-like 2.				activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)	p.S162S(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	ACAACATCTCCATTACAAATG	0.458																																						uc001ftq.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(2)|prostate(1)	5						c.(484-486)TCC>TCT		Fc fragment of IgE, high affinity I, receptor	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						179.0	156.0	164.0					1																	159275932		2203	4300	6503	SO:0001819	synonymous_variant	2205					integral to plasma membrane		g.chr1:159275932C>T	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.486C>T	1.37:g.159275932C>T							p.S162S	NM_002001	NP_001992	P12319	FCERA_HUMAN			5	585	+	all_hematologic(112;0.0429)		162			Ig-like 2.|Extracellular (Potential).			Silent	SNP	ENST00000368115.1	37	c.486C>T	CCDS1184.1																																																																																				PASS	0.458	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		48	120	48	120	---	---	---	---
CD84	8832	broad.mit.edu	37	1	160523826	160523826	+	Missense_Mutation	SNP	T	T	C	rs139298884		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:160523826T>C	ENST00000311224.4	-	3	565	c.499A>G	c.(499-501)Aat>Gat	p.N167D	RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368051.3_Missense_Mutation_p.N167D|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000368054.3_Missense_Mutation_p.N167D|CD84_ENST00000368048.3_Missense_Mutation_p.N167D|CD84_ENST00000534968.1_Missense_Mutation_p.N53D	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	167	Ig-like C2-type.				blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.N167D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGACTCCAATTGTATGTCACA	0.448																																						uc001fwh.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(499-501)AAT>GAT		CD84 molecule							186.0	167.0	173.0					1																	160523826		2203	4300	6503	SO:0001583	missense	8832				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	g.chr1:160523826T>C	AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1704	protein-coding gene	gene with protein product		604513	"""CD84 antigen (leukocyte antigen)"", ""CD84 molecule """			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.499A>G	1.37:g.160523826T>C	ENSP00000312367:p.Asn167Asp					CD84_uc001fwf.3_Missense_Mutation_p.N167D|CD84_uc001fwg.3_Missense_Mutation_p.N167D|CD84_uc009wtn.2_Missense_Mutation_p.N167D|CD84_uc001fwi.3_Missense_Mutation_p.N53D|CD84_uc001fwj.2_Missense_Mutation_p.N167D|CD84_uc001fwk.2_Missense_Mutation_p.N167D	p.N167D	NM_003874	NP_003865	Q9UIB8	SLAF5_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		3	523	-	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		167			Extracellular (Potential).|Ig-like C2-type.		B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Missense_Mutation	SNP	ENST00000311224.4	37	c.499A>G	CCDS53396.1	.	.	.	.	.	.	.	.	.	.	T	8.370	0.835156	0.16820	.	.	ENSG00000066294	ENST00000534968;ENST00000368054;ENST00000368048;ENST00000311224;ENST00000368051;ENST00000360056;ENST00000368047	T;T;T;T;T;T;T	0.02944	4.1;4.1;4.1;4.1;4.1;4.1;4.1	5.25	1.51	0.23008	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.008340	0.07940	N	0.979156	T	0.00875	0.0029	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B;B;B	0.22414	0.056;0.004;0.056;0.007;0.069;0.056;0.056	B;B;B;B;B;B;B	0.27076	0.028;0.001;0.061;0.001;0.076;0.045;0.028	T	0.48736	-0.9009	10	0.62326	D	0.03	-0.4209	5.1132	0.14821	0.0:0.0941:0.3665:0.5393	.	167;167;167;53;167;167;167	Q9UIB8-5;Q9UIB8-6;Q9UIB8-4;Q9UIB8-7;Q9UIB8;Q9UIB8-2;Q9UIB8-3	.;.;.;.;SLAF5_HUMAN;.;.	D	53;167;167;167;167;167;167	ENSP00000442845:N53D;ENSP00000357033:N167D;ENSP00000357027:N167D;ENSP00000312367:N167D;ENSP00000357030:N167D;ENSP00000353163:N167D;ENSP00000357026:N167D	ENSP00000312367:N167D	N	-	1	0	CD84	158790450	0.001000	0.12720	0.027000	0.17364	0.178000	0.23041	0.958000	0.29227	0.972000	0.38314	0.460000	0.39030	AAT		PASS	0.448	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874		49	123	49	123	---	---	---	---
PBX1	5087	broad.mit.edu	37	1	164789420	164789420	+	Splice_Site	SNP	A	A	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:164789420A>T	ENST00000420696.2	+	7	1297	c.1109A>T	c.(1108-1110)cAg>cTg	p.Q370L	PBX1_ENST00000367897.1_Intron|PBX1_ENST00000560641.1_Splice_Site_p.Q265L|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000540246.1_Splice_Site_p.Q265L|PBX1_ENST00000540236.1_Splice_Site_p.Q370L|PBX1_ENST00000559240.1_Intron	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	370					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Q370L(1)	EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						GTGCAATCACAGGTAGGGACC	0.488			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																	uc001gct.2				Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"""L, M"""	TCF3|EWSR1		pre B-ALL|myoepithelioma	EWSR1/PBX1(3)	1	Substitution - Missense(1)		lung(1)	soft_tissue(3)|lung(1)|skin(1)	5						c.(1108-1110)CAG>CTG		pre-B-cell leukemia homeobox 1							58.0	59.0	59.0					1																	164789420		2203	4300	6503	SO:0001630	splice_region_variant	5087				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:164789420A>T	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.1110+1A>T	1.37:g.164789420A>T						PBX1_uc010pku.1_Missense_Mutation_p.Q370L|PBX1_uc010pkv.1_Missense_Mutation_p.Q287L|PBX1_uc001gcs.2_Intron|PBX1_uc010pkw.1_Missense_Mutation_p.Q260L	p.Q370L	NM_002585	NP_002576	P40424	PBX1_HUMAN			7	1367	+			370					B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	ENST00000420696.2	37	c.1109A>T	CCDS1246.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.862827	0.91511	.	.	ENSG00000185630	ENST00000420696;ENST00000540236;ENST00000540246	D;D;D	0.89810	-2.45;-2.44;-2.57	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.89132	0.6628	M	0.71206	2.165	.	.	.	P;P;P;P	0.44521	0.749;0.749;0.837;0.749	B;B;P;B	0.50405	0.437;0.439;0.64;0.339	D	0.89317	0.3637	9	0.41790	T	0.15	-16.5929	15.47	0.75434	1.0:0.0:0.0:0.0	.	265;370;370;370	B7Z774;A8K5V0;F5H4U9;P40424	.;.;.;PBX1_HUMAN	L	370;370;265	ENSP00000405890:Q370L;ENSP00000439943:Q370L;ENSP00000440869:Q265L	ENSP00000405890:Q370L	Q	+	2	0	PBX1	163056044	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.832000	0.92079	2.134000	0.65973	0.533000	0.62120	CAG		PASS	0.488	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585	Missense_Mutation	26	53	26	53	---	---	---	---
FAM78B	149297	broad.mit.edu	37	1	166039931	166039931	+	Silent	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:166039931G>A	ENST00000338353.3	-	3	922	c.333C>T	c.(331-333)agC>agT	p.S111S	FAM78B_ENST00000354422.3_Silent_p.S111S			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	111								p.S111S(1)		central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					ACCAAGGGTAGCTCACCCCAT	0.522																																						uc001gdr.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(331-333)AGC>AGT		hypothetical protein LOC149297							99.0	95.0	96.0					1																	166039931		2203	4300	6503	SO:0001819	synonymous_variant	149297							g.chr1:166039931G>A	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.333C>T	1.37:g.166039931G>A						FAM78B_uc010plc.1_RNA|FAM78B_uc001gdq.2_5'Flank	p.S111S	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN			3	923	-	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)		111					B7Z693	Silent	SNP	ENST00000338353.3	37	c.333C>T	CCDS30931.1																																																																																				PASS	0.522	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961		27	153	27	153	---	---	---	---
ADCY10	55811	broad.mit.edu	37	1	167815444	167815444	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:167815444C>T	ENST00000367851.4	-	20	2679	c.2495G>A	c.(2494-2496)tGt>tAt	p.C832Y	ADCY10_ENST00000545172.1_Missense_Mutation_p.C679Y|ADCY10_ENST00000367848.1_Missense_Mutation_p.C740Y	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	832					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.C832Y(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GATGGCAGCACATCTCACCAG	0.458																																						uc001ger.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(2494-2496)TGT>TAT		adenylate cyclase 10							142.0	139.0	140.0					1																	167815444		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167815444C>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.2495G>A	1.37:g.167815444C>T	ENSP00000356825:p.Cys832Tyr					ADCY10_uc009wvk.2_Missense_Mutation_p.C740Y|ADCY10_uc010plj.1_Missense_Mutation_p.C679Y|ADCY10_uc009wvl.2_Missense_Mutation_p.C831Y	p.C832Y	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN			20	2793	-			832					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.2495G>A	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059880	0.76074	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.41065	1.01;1.02;1.02	5.69	5.69	0.88448	.	0.357916	0.27901	N	0.017396	T	0.49626	0.1568	M	0.77103	2.36	0.25861	N	0.983824	P;P;P	0.51791	0.892;0.946;0.948	P;P;P	0.54026	0.628;0.74;0.65	T	0.53063	-0.8491	9	0.45353	T	0.12	-7.9471	15.3821	0.74664	0.0:1.0:0.0:0.0	.	679;740;832	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	Y	679;832;740	ENSP00000441992:C679Y;ENSP00000356825:C832Y;ENSP00000356822:C740Y	ENSP00000356822:C740Y	C	-	2	0	ADCY10	166082068	0.989000	0.36119	0.973000	0.42090	0.989000	0.77384	4.030000	0.57260	2.703000	0.92315	0.555000	0.69702	TGT		PASS	0.458	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		102	213	102	213	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175096160	175096160	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:175096160C>A	ENST00000239462.4	+	13	3097	c.2984C>A	c.(2983-2985)cCc>cAc	p.P995H		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	995	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.P995H(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACCTGGACGCCCCCCTCTGCT	0.502																																						uc001gkl.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(2983-2985)CCC>CAC		tenascin N precursor							174.0	151.0	159.0					1																	175096160		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175096160C>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2984C>A	1.37:g.175096160C>A	ENSP00000239462:p.Pro995His						p.P995H	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	13	3097	+		Breast(1374;0.000962)	995			Fibronectin type-III 9.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.2984C>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991896	0.54041	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.61742	0.08	5.14	4.21	0.49690	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.170947	0.52532	D	0.000061	T	0.76905	0.4053	M	0.85373	2.75	0.32435	N	0.547511	D	0.65815	0.995	D	0.71184	0.972	D	0.84277	0.0492	10	0.87932	D	0	.	13.5267	0.61599	0.0:0.8432:0.1568:0.0	.	995	Q9UQP3	TENN_HUMAN	H	995;818	ENSP00000239462:P995H	ENSP00000239462:P995H	P	+	2	0	TNN	173362783	0.857000	0.29778	0.868000	0.34077	0.381000	0.30169	4.002000	0.57053	1.122000	0.41944	0.563000	0.77884	CCC		PASS	0.502	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		73	133	73	133	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176564298	176564298	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:176564298C>G	ENST00000367662.3	+	3	2722	c.1558C>G	c.(1558-1560)Cgg>Ggg	p.R520G	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R520G	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	520	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R520G(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGGCCCCTTCGGGGAGAGAA	0.537																																						uc001gkz.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(1558-1560)CGG>GGG		pappalysin 2 isoform 1							51.0	52.0	51.0					1																	176564298		2003	4172	6175	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564298C>G	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1558C>G	1.37:g.176564298C>G	ENSP00000356634:p.Arg520Gly					PAPPA2_uc001gky.1_Missense_Mutation_p.R520G|PAPPA2_uc009www.2_RNA	p.R520G	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			3	2722	+			520			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1558C>G	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.782282	0.31502	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.58060	0.36;0.36	5.24	4.24	0.50183	.	0.325968	0.32785	N	0.005642	T	0.68007	0.2954	M	0.79123	2.44	0.34055	D	0.656581	D;D	0.63880	0.993;0.984	D;P	0.65233	0.933;0.75	T	0.78165	-0.2310	10	0.72032	D	0.01	-14.6877	9.8148	0.40846	0.1505:0.7702:0.0:0.0793	.	520;520	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	G	520	ENSP00000356634:R520G;ENSP00000356633:R520G	ENSP00000356633:R520G	R	+	1	2	PAPPA2	174830921	0.967000	0.33354	0.684000	0.30055	0.067000	0.16453	2.019000	0.41001	2.439000	0.82584	0.650000	0.86243	CGG		PASS	0.537	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			38	72	38	72	---	---	---	---
RGS8	85397	broad.mit.edu	37	1	182615931	182615931	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:182615931C>A	ENST00000483095.2	-	7	739	c.482G>T	c.(481-483)aGg>aTg	p.R161M	RGS8_ENST00000367557.4_Missense_Mutation_p.R161M|RGS8_ENST00000258302.4_Missense_Mutation_p.R179M|RGS8_ENST00000367556.1_Missense_Mutation_p.R161M			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	161	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.R161M(1)|p.R179M(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						CCTCAGGAACCTGGGGTAAGA	0.527																																					Ovarian(189;1262 3804 41973)	uc010pnw.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(481-483)AGG>ATG		regulator of G-protein signalling 8 isoform 2							203.0	201.0	202.0					1																	182615931		2203	4300	6503	SO:0001583	missense	85397				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:182615931C>A	AF297015	CCDS1349.1, CCDS41443.1	1q25	2008-07-18	2007-08-14		ENSG00000135824	ENSG00000135824		"""Regulators of G-protein signaling"""	16810	protein-coding gene	gene with protein product		607189	"""regulator of G-protein signalling 8"""			11318611	Standard	NM_001102450		Approved	MGC119067, MGC119068, MGC119069	uc001gpm.1	P57771	OTTHUMG00000035219	ENST00000483095.2:c.482G>T	1.37:g.182615931C>A	ENSP00000426289:p.Arg161Met					RGS8_uc001gpn.1_Missense_Mutation_p.R161M|RGS8_uc001gpm.1_Missense_Mutation_p.R179M	p.R161M	NM_001102450	NP_001095920	P57771	RGS8_HUMAN			7	740	-			161			RGS.		B4DGL9|Q3SYD2	Missense_Mutation	SNP	ENST00000483095.2	37	c.482G>T	CCDS41443.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628205	0.87560	.	.	ENSG00000135824	ENST00000483095;ENST00000258302;ENST00000367557;ENST00000367556	T;T;T;T	0.02197	4.4;4.4;4.4;4.4	5.27	5.27	0.74061	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.18923	0.0454	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.02519	-1.1147	10	0.87932	D	0	.	18.5294	0.90986	0.0:1.0:0.0:0.0	.	161;179	P57771;P57771-2	RGS8_HUMAN;.	M	161;179;161;161	ENSP00000426289:R161M;ENSP00000258302:R179M;ENSP00000356528:R161M;ENSP00000356527:R161M	ENSP00000258302:R179M	R	-	2	0	RGS8	180882554	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.556000	0.82233	2.450000	0.82876	0.585000	0.79938	AGG		PASS	0.527	RGS8-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358979.1	NM_033345		123	261	123	261	---	---	---	---
CFHR2	3080	broad.mit.edu	37	1	196884211	196884211	+	Intron	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:196884211G>T	ENST00000367421.3	+	2	135				CFHR4_ENST00000608469.1_Missense_Mutation_p.G118C|CFHR4_ENST00000367416.2_Missense_Mutation_p.G494C|CFHR4_ENST00000251424.4_Missense_Mutation_p.G248C|CFHR4_ENST00000367418.2_Missense_Mutation_p.G248C			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)		p.G494C(1)|p.G248C(1)		large_intestine(2)|ovary(1)|skin(3)	6						TGAACTTCAGGGTTCTAATTA	0.398																																						uc001gto.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(742-744)GGT>TGT		complement factor H-related 4 precursor							203.0	202.0	203.0					1																	196884211		2201	4298	6499	SO:0001627	intron_variant	10877					extracellular region	lipid transporter activity	g.chr1:196884211G>T	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-34374G>T	1.37:g.196884211G>T						CFHR4_uc009wyy.2_Missense_Mutation_p.G494C|CFHR4_uc001gtp.2_Missense_Mutation_p.G495C	p.G248C	NM_006684	NP_006675	Q92496	FHR4_HUMAN			5	811	+			248			Sushi 4.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.742G>T		.	.	.	.	.	.	.	.	.	.	G	15.86	2.957542	0.53400	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	T;T;T	0.73469	-0.75;-0.75;-0.75	2.9	2.9	0.33743	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.92172	0.7518	H	0.99909	4.93	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.82800	-0.0278	9	0.87932	D	0	.	9.8774	0.41211	0.0:0.0:1.0:0.0	.	494;495;248	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	C	494;248;248;248	ENSP00000356386:G494C;ENSP00000356388:G248C;ENSP00000251424:G248C	ENSP00000251424:G248C	G	+	1	0	CFHR4	195150834	0.965000	0.33210	0.008000	0.14137	0.519000	0.34347	3.973000	0.56845	1.569000	0.49696	0.436000	0.28706	GGT		PASS	0.398	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		112	486	112	486	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197325966	197325966	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:197325966A>G	ENST00000367400.3	+	5	1129	c.994A>G	c.(994-996)Aca>Gca	p.T332A	CRB1_ENST00000535699.1_Missense_Mutation_p.T263A|CRB1_ENST00000543483.1_Missense_Mutation_p.T31A|CRB1_ENST00000538660.1_Missense_Mutation_p.T332A|CRB1_ENST00000367399.2_Missense_Mutation_p.T220A	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	332	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T332A(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGCAGGATACACAGGTGCCCA	0.448																																						uc001gtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(994-996)ACA>GCA		crumbs homolog 1 precursor							111.0	100.0	103.0					1																	197325966		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197325966A>G		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.994A>G	1.37:g.197325966A>G	ENSP00000356370:p.Thr332Ala					CRB1_uc010poz.1_Missense_Mutation_p.T263A|CRB1_uc001gty.1_Missense_Mutation_p.T332A|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.T220A|CRB1_uc010ppb.1_Missense_Mutation_p.T332A|CRB1_uc010ppc.1_RNA	p.T332A	NM_201253	NP_957705	P82279	CRUM1_HUMAN			5	1129	+			332			Extracellular (Potential).|EGF-like 8.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.994A>G	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	A	12.38	1.921419	0.33908	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000543483	D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-2.36;-2.36	5.18	2.79	0.32731	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.94656	0.8277	M	0.82517	2.595	0.80722	D	1	P;P;P;P;D	0.54047	0.888;0.916;0.876;0.881;0.964	P;P;P;P;P	0.57846	0.654;0.654;0.539;0.688;0.828	D	0.91406	0.5147	9	0.37606	T	0.19	.	5.3754	0.16162	0.7605:0.0:0.085:0.1545	.	332;263;220;332;357	B7Z5T2;F5H0L2;P82279-3;P82279;Q59H36	.;.;.;CRUM1_HUMAN;.	A	263;332;332;220;31	ENSP00000438786:T263A;ENSP00000438091:T332A;ENSP00000356370:T332A;ENSP00000356369:T220A;ENSP00000439579:T31A	ENSP00000356369:T220A	T	+	1	0	CRB1	195592589	0.998000	0.40836	0.970000	0.41538	0.041000	0.13682	2.065000	0.41442	0.347000	0.23924	-0.385000	0.06624	ACA		PASS	0.448	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		33	55	33	55	---	---	---	---
KIF14	9928	broad.mit.edu	37	1	200539041	200539041	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:200539041G>A	ENST00000367350.4	-	23	4097	c.3659C>T	c.(3658-3660)tCa>tTa	p.S1220L		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1220	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.S1220L(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						AAAAATACCTGATGAATGTGA	0.338																																						uc010ppk.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|skin(2)	7						c.(3658-3660)TCA>TTA		kinesin family member 14							119.0	115.0	116.0					1																	200539041		2203	4300	6503	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200539041G>A	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.3659C>T	1.37:g.200539041G>A	ENSP00000356319:p.Ser1220Leu					KIF14_uc010ppj.1_Missense_Mutation_p.S729L	p.S1220L	NM_014875	NP_055690	Q15058	KIF14_HUMAN			23	4098	-			1220			Required for CIT-binding.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.3659C>T	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580828	0.65992	.	.	ENSG00000118193	ENST00000367350	T	0.16897	2.31	5.68	3.79	0.43588	.	0.150820	0.45867	D	0.000331	T	0.18467	0.0443	L	0.56769	1.78	0.37579	D	0.919723	B	0.26195	0.144	B	0.21708	0.036	T	0.05257	-1.0896	10	0.54805	T	0.06	.	11.6948	0.51538	0.0673:0.1241:0.8086:0.0	.	1220	Q15058	KIF14_HUMAN	L	1220	ENSP00000356319:S1220L	ENSP00000356319:S1220L	S	-	2	0	KIF14	198805664	1.000000	0.71417	0.846000	0.33378	0.937000	0.57800	5.844000	0.69430	0.735000	0.32537	0.591000	0.81541	TCA		PASS	0.338	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		52	96	52	96	---	---	---	---
CD46	4179	broad.mit.edu	37	1	207930887	207930887	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:207930887G>C	ENST00000358170.2	+	3	445	c.289G>C	c.(289-291)Gaa>Caa	p.E97Q	CD46_ENST00000441839.2_Missense_Mutation_p.E97Q|CD46_ENST00000322875.4_Missense_Mutation_p.E97Q|CD46_ENST00000357714.1_Missense_Mutation_p.E97Q|CD46_ENST00000361067.1_Missense_Mutation_p.E97Q|CD46_ENST00000367047.1_Missense_Mutation_p.E34Q|CD46_ENST00000360212.2_Missense_Mutation_p.E97Q|CD46_ENST00000367042.1_Missense_Mutation_p.E97Q|CD46_ENST00000367041.1_Missense_Mutation_p.E97Q|CD46_ENST00000480003.1_Missense_Mutation_p.E97Q|CD46_ENST00000322918.5_Missense_Mutation_p.E97Q|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000354848.1_Missense_Mutation_p.E97Q	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	97	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)	p.E97Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TCTTTCAGGAGAAACATGTCC	0.358																																						uc001hgc.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(1)|central_nervous_system(1)	4						c.(289-291)GAA>CAA		CD46 antigen, complement regulatory protein							33.0	33.0	33.0					1																	207930887		2203	4299	6502	SO:0001583	missense	4179				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	g.chr1:207930887G>C	BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.289G>C	1.37:g.207930887G>C	ENSP00000350893:p.Glu97Gln					CD46_uc001hgd.2_Missense_Mutation_p.E97Q|CD46_uc001hge.2_Missense_Mutation_p.E97Q|CD46_uc001hgf.2_Missense_Mutation_p.E97Q|CD46_uc001hgg.2_Missense_Mutation_p.E97Q|CD46_uc001hgh.2_Missense_Mutation_p.E97Q|CD46_uc001hgi.2_Missense_Mutation_p.E97Q|CD46_uc001hgj.2_Missense_Mutation_p.E97Q|CD46_uc001hgk.2_Missense_Mutation_p.E97Q|CD46_uc001hgl.2_Missense_Mutation_p.E97Q|CD46_uc001hgm.2_Missense_Mutation_p.E97Q|CD46_uc001hgn.2_Missense_Mutation_p.E97Q|CD46_uc001hgo.2_Missense_Mutation_p.E97Q|CD46_uc001hgp.2_Missense_Mutation_p.E97Q	p.E97Q	NM_002389	NP_002380	P15529	MCP_HUMAN			3	445	+			97			Extracellular (Potential).|Sushi 2.		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	ENST00000358170.2	37	c.289G>C	CCDS1485.1	.	.	.	.	.	.	.	.	.	.	G	9.833	1.188836	0.21954	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000367047;ENST00000441839;ENST00000361067;ENST00000360212;ENST00000480003	T;T;T;T;T;T;T;T;T;T;T;T	0.35789	1.37;1.39;1.43;1.37;1.39;1.42;1.37;1.38;1.29;1.35;1.44;1.38	4.07	-1.63	0.08345	Complement control module (2);Sushi/SCR/CCP (1);	1.513130	0.04217	N	0.332804	T	0.30324	0.0761	L	0.46157	1.445	0.09310	N	1	P;B;P;P;P;P;P;P;P;P;P;P;P;P	0.51449	0.654;0.315;0.649;0.654;0.638;0.852;0.654;0.884;0.654;0.668;0.468;0.852;0.819;0.945	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.42062	0.245;0.049;0.198;0.245;0.159;0.299;0.245;0.285;0.245;0.156;0.245;0.28;0.283;0.374	T	0.31024	-0.9958	10	0.59425	D	0.04	.	4.1513	0.10238	0.5271:0.1764:0.2965:0.0	.	97;97;97;97;97;97;97;97;97;97;97;97;97;97	P15529-4;P15529-5;P15529-14;P15529-3;P15529-12;P15529-13;P15529-2;P15529-11;P15529-7;P15529-9;P15529-15;P15529-6;P15529-8;P15529	.;.;.;.;.;.;.;.;.;.;.;.;.;MCP_HUMAN	Q	97;97;97;97;97;97;97;34;97;97;97;97	ENSP00000350893:E97Q;ENSP00000346912:E97Q;ENSP00000314664:E97Q;ENSP00000356009:E97Q;ENSP00000356008:E97Q;ENSP00000350346:E97Q;ENSP00000313875:E97Q;ENSP00000356014:E34Q;ENSP00000413543:E97Q;ENSP00000354358:E97Q;ENSP00000353342:E97Q;ENSP00000418471:E97Q	ENSP00000313875:E97Q	E	+	1	0	CD46	205997510	0.006000	0.16342	0.001000	0.08648	0.001000	0.01503	0.124000	0.15728	-0.362000	0.08113	-0.424000	0.05967	GAA		PASS	0.358	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361		17	42	17	42	---	---	---	---
PLXNA2	5362	broad.mit.edu	37	1	208390971	208390971	+	Silent	SNP	G	G	T	rs369309868		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:208390971G>T	ENST00000367033.3	-	2	1054	c.297C>A	c.(295-297)atC>atA	p.I99I		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	99	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.I99I(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AGGGCTGCACGATGAGGGGCG	0.557																																						uc001hgz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(295-297)ATC>ATA		plexin A2 precursor							107.0	102.0	104.0					1																	208390971		2203	4300	6503	SO:0001819	synonymous_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208390971G>T	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.297C>A	1.37:g.208390971G>T						PLXNA2_uc001hha.3_Silent_p.I153I	p.I99I	NM_025179	NP_079455	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	2	1055	-			99			Extracellular (Potential).|Sema.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	ENST00000367033.3	37	c.297C>A	CCDS31013.1																																																																																				PASS	0.557	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		49	101	49	101	---	---	---	---
TATDN3	128387	broad.mit.edu	37	1	212969882	212969882	+	Silent	SNP	A	A	C	rs141185416		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:212969882A>C	ENST00000366974.4	+	3	217	c.123A>C	c.(121-123)gcA>gcC	p.A41A	TATDN3_ENST00000366973.4_Silent_p.A41A|TATDN3_ENST00000531963.1_Silent_p.A41A|TATDN3_ENST00000526641.1_Silent_p.A41A|TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000532324.1_Silent_p.A41A|TATDN3_ENST00000530441.1_Silent_p.A41A|TATDN3_ENST00000526997.1_Silent_p.A41A	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3	41					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.A41A(1)		endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		CCCTTGTGGCAGTTGCCGAAC	0.284																																						uc001hjo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(121-123)GCA>GCC		TatD DNase domain containing 3 isoform 1							37.0	40.0	39.0					1																	212969882		2203	4300	6503	SO:0001819	synonymous_variant	128387					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr1:212969882A>C	AL832248	CCDS31019.1, CCDS41465.1, CCDS53475.1, CCDS53476.1, CCDS53477.1	1q32.3	2008-02-05			ENSG00000203705	ENSG00000203705			27010	protein-coding gene	gene with protein product							Standard	NM_001042552		Approved		uc001hjo.2	Q17R31	OTTHUMG00000036805	ENST00000366974.4:c.123A>C	1.37:g.212969882A>C						TATDN3_uc010ptj.1_Silent_p.A41A|TATDN3_uc010ptk.1_Silent_p.A41A|TATDN3_uc001hjp.2_Silent_p.A41A|TATDN3_uc010ptl.1_Silent_p.A41A|TATDN3_uc010ptm.1_5'UTR	p.A41A	NM_001042552	NP_001036017	Q17R31	TATD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)	3	217	+			41					A6NGS3|B7Z1C1|B7Z978|B7ZLQ6|E9PJE5|E9PNH3|G3V151|Q4G0L1	Silent	SNP	ENST00000366974.4	37	c.123A>C	CCDS31019.1	.	.	.	.	.	.	.	.	.	.	A	10.26	1.301560	0.23736	.	.	ENSG00000203705	ENST00000488246	.	.	.	5.75	2.25	0.28309	.	.	.	.	.	T	0.45975	0.1369	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29912	-0.9996	4	.	.	.	-5.7168	3.2554	0.06830	0.4775:0.0:0.3433:0.1793	.	.	.	.	R	41	.	.	S	+	1	0	TATDN3	211036505	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.213000	0.32407	0.572000	0.29383	-0.388000	0.06559	AGT		PASS	0.284	TATDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089396.2	XM_375838		21	44	21	44	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215821936	215821936	+	Missense_Mutation	SNP	G	G	A	rs139065588		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:215821936G>A	ENST00000307340.3	-	66	14902	c.14516C>T	c.(14515-14517)aCg>aTg	p.T4839M	USH2A_ENST00000366943.2_Missense_Mutation_p.T4839M	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4839	Fibronectin type-III 34. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.T4839K(1)|p.T4839M(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGAGGCCAGCGTCCCGATTTG	0.572										HNSCC(13;0.011)			G|||	1	0.000199681	0.0	0.0	5008	,	,		18628	0.001		0.0	False		,,,				2504	0.0					uc001hku.1																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(14515-14517)ACG>ATG		usherin isoform B		G	MET/THR	0,4406		0,0,2203	109.0	96.0	100.0		14516	-2.0	0.0	1	dbSNP_134	100	2,8598	2.2+/-6.3	0,2,4298	no	missense	USH2A	NM_206933.2	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	4839/5203	215821936	2,13004	2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215821936G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14516C>T	1.37:g.215821936G>A	ENSP00000305941:p.Thr4839Met	HNSCC(13;0.011)					p.T4839M	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	66	14903	-			4839			Extracellular (Potential).|Fibronectin type-III 34.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.14516C>T	CCDS31025.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	6.010	0.370200	0.11352	0.0	2.33E-4	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54479	0.57;0.57	5.63	-1.98	0.07480	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.599918	0.13788	N	0.362754	T	0.27900	0.0687	N	0.17674	0.51	0.09310	N	1	B	0.23490	0.086	B	0.19391	0.025	T	0.10314	-1.0635	10	0.44086	T	0.13	.	1.2638	0.02007	0.367:0.1034:0.3182:0.2114	.	4839	O75445	USH2A_HUMAN	M	4839	ENSP00000305941:T4839M;ENSP00000355910:T4839M	ENSP00000305941:T4839M	T	-	2	0	USH2A	213888559	0.004000	0.15560	0.001000	0.08648	0.003000	0.03518	1.119000	0.31258	-0.720000	0.04935	0.655000	0.94253	ACG		PASS	0.572	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		9	171	9	171	---	---	---	---
WDR26	80232	broad.mit.edu	37	1	224599262	224599262	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:224599262T>A	ENST00000414423.2	-	7	1218	c.1025A>T	c.(1024-1026)cAg>cTg	p.Q342L	WDR26_ENST00000295024.6_Missense_Mutation_p.Q195L|WDR26_ENST00000366852.2_3'UTR	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	342						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q195L(1)|p.Q342L(1)		biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		ACATGGGAACTGCCTCCTAAA	0.333																																						uc001hop.3																			2	Substitution - Missense(2)		lung(2)		0						c.(583-585)CAG>CTG		WD repeat domain 26 isoform a							111.0	103.0	105.0					1																	224599262		2203	4300	6503	SO:0001583	missense	80232					cytoplasm|nucleus		g.chr1:224599262T>A	AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.1025A>T	1.37:g.224599262T>A	ENSP00000408108:p.Gln342Leu					WDR26_uc001hoq.3_Missense_Mutation_p.Q179L|WDR26_uc010pvh.1_5'UTR	p.Q195L	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN		GBM - Glioblastoma multiforme(131;0.0104)	7	950	-			342					A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	ENST00000414423.2	37	c.584A>T	CCDS31037.2	.	.	.	.	.	.	.	.	.	.	T	19.85	3.903991	0.72754	.	.	ENSG00000162923	ENST00000414423;ENST00000295024	T;T	0.79845	-1.31;-1.31	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.79592	0.4472	L	0.46885	1.475	0.80722	D	1	P	0.49783	0.928	P	0.48524	0.58	T	0.76591	-0.2903	10	0.21014	T	0.42	.	15.7371	0.77853	0.0:0.0:0.0:1.0	.	326	Q9H7D7-2	.	L	342;195	ENSP00000408108:Q342L;ENSP00000295024:Q195L	ENSP00000295024:Q195L	Q	-	2	0	WDR26	222665885	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.997000	0.88414	2.177000	0.69029	0.460000	0.39030	CAG		PASS	0.333	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160		27	86	27	86	---	---	---	---
MTR	4548	broad.mit.edu	37	1	237052583	237052583	+	Missense_Mutation	SNP	G	G	A	rs372611712		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:237052583G>A	ENST00000366577.5	+	28	3348	c.2954G>A	c.(2953-2955)cGg>cAg	p.R985Q	MTR_ENST00000535889.1_Missense_Mutation_p.R934Q	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	985	AdoMet activation. {ECO:0000255|PROSITE- ProRule:PRU00346}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.R985Q(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TGGCAGCTCCGGGGCAAGTAC	0.478																																						uc001hyi.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2953-2955)CGG>CAG		5-methyltetrahydrofolate-homocysteine	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	G	GLN/ARG	0,4406		0,0,2203	110.0	104.0	106.0		2954	5.5	1.0	1		106	1,8599	1.2+/-3.3	0,1,4299	no	missense	MTR	NM_000254.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	985/1266	237052583	1,13005	2203	4300	6503	SO:0001583	missense	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237052583G>A	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2954G>A	1.37:g.237052583G>A	ENSP00000355536:p.Arg985Gln					MTR_uc010pxw.1_Missense_Mutation_p.R578Q|MTR_uc010pxx.1_Missense_Mutation_p.R934Q|MTR_uc010pxy.1_Missense_Mutation_p.R839Q	p.R985Q	NM_000254	NP_000245	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	28	3377	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	985			AdoMet activation.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	c.2954G>A	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	G	36	5.654321	0.96724	0.0	1.16E-4	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	T;T;T	0.77358	-1.09;-1.09;-1.09	5.54	5.54	0.83059	Vitamin B12-dependent methionine synthase, activation domain (2);	0.160080	0.53938	D	0.000054	T	0.82139	0.4972	L	0.39245	1.2	0.58432	D	0.999994	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.59012	0.85;0.85;0.85	T	0.80324	-0.1430	10	0.40728	T	0.16	-15.2338	19.6787	0.95950	0.0:0.0:1.0:0.0	.	985;934;985	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	Q	839;985;934;539	ENSP00000355536:R985Q;ENSP00000441845:R934Q;ENSP00000355535:R539Q	ENSP00000355535:R539Q	R	+	2	0	MTR	235119206	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	8.833000	0.92089	2.884000	0.98904	0.655000	0.94253	CGG		PASS	0.478	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		65	118	65	118	---	---	---	---
CEP170	9859	broad.mit.edu	37	1	243328007	243328007	+	Silent	SNP	T	T	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:243328007T>C	ENST00000366542.1	-	13	3306	c.3255A>G	c.(3253-3255)tcA>tcG	p.S1085S	CEP170_ENST00000366543.1_Silent_p.S987S|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366544.1_Silent_p.S987S|CEP170_ENST00000490813.1_5'Flank|RP11-261C10.4_ENST00000437499.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1085	Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)		p.S1085S(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			ATTTACTAGATGAACCAGATA	0.483																																						uc001hzs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(3253-3255)TCA>TCG		centrosomal protein 170kDa isoform alpha							59.0	56.0	57.0					1																	243328007		1931	4119	6050	SO:0001819	synonymous_variant	9859					centriole|microtubule|spindle		g.chr1:243328007T>C	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.3255A>G	1.37:g.243328007T>C						CEP170_uc001hzt.2_Silent_p.S987S|CEP170_uc001hzu.2_Silent_p.S987S|CEP170_uc001hzv.1_Silent_p.S463S	p.S1085S	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		13	3663	-	all_neural(11;0.101)	all_cancers(173;0.003)	1085			Targeting to microtubules.		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Silent	SNP	ENST00000366542.1	37	c.3255A>G	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	T	1.801	-0.476992	0.04414	.	.	ENSG00000143702	ENST00000336415	.	.	.	5.04	1.51	0.23008	.	.	.	.	.	T	0.51584	0.1683	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37549	-0.9701	4	.	.	.	-3.1231	5.2019	0.15269	0.0:0.3138:0.1486:0.5376	.	.	.	.	R	1049	.	.	H	-	2	0	CEP170	241394630	0.001000	0.12720	0.836000	0.33094	0.568000	0.35870	-1.790000	0.01759	0.273000	0.22049	0.454000	0.30748	CAT		PASS	0.483	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		25	71	25	71	---	---	---	---
KIF26B	55083	broad.mit.edu	37	1	245862230	245862230	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:245862230C>A	ENST00000407071.2	+	14	6509	c.6069C>A	c.(6067-6069)caC>caA	p.H2023Q	KIF26B_ENST00000366518.4_Missense_Mutation_p.H1642Q	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2023					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.H2023Q(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TTCTGGAACACCGCCAGCAGA	0.572																																						uc001ibf.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(6067-6069)CAC>CAA		kinesin family member 26B							74.0	79.0	77.0					1																	245862230		2090	4211	6301	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245862230C>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.6069C>A	1.37:g.245862230C>A	ENSP00000385545:p.His2023Gln						p.H2023Q	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		14	6509	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		2023					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.6069C>A	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.051422	0.36181	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.79033	-1.23;-1.22	5.82	-8.16	0.01061	.	.	.	.	.	T	0.70037	0.3178	L	0.51422	1.61	0.38459	D	0.947175	P	0.50272	0.933	B	0.42386	0.386	T	0.77062	-0.2727	9	0.72032	D	0.01	.	16.3263	0.82983	0.0:0.5619:0.0:0.4381	.	2023	Q2KJY2	KI26B_HUMAN	Q	2023;1642;1639	ENSP00000385545:H2023Q;ENSP00000355475:H1642Q	ENSP00000355475:H1642Q	H	+	3	2	KIF26B	243928853	0.015000	0.18098	0.709000	0.30452	0.530000	0.34684	-0.937000	0.03942	-1.687000	0.01437	-0.768000	0.03414	CAC		PASS	0.572	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		4	52	4	52	---	---	---	---
OR2L3	391192	broad.mit.edu	37	1	248224064	248224064	+	Silent	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:248224064C>T	ENST00000359959.3	+	1	81	c.81C>T	c.(79-81)ttC>ttT	p.F27F	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F27F(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTTTCCTCTTCATCCTCATTG	0.393																																						uc001idx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(79-81)TTC>TTT		olfactory receptor, family 2, subfamily L,							236.0	235.0	236.0					1																	248224064		2203	4300	6503	SO:0001819	synonymous_variant	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224064C>T	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.81C>T	1.37:g.248224064C>T						OR2L13_uc001ids.2_Intron	p.F27F	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	81	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		27			Helical; Name=1; (Potential).		B9EH44	Silent	SNP	ENST00000359959.3	37	c.81C>T	CCDS31104.1																																																																																				PASS	0.393	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		243	574	243	574	---	---	---	---
OR2M7	391196	broad.mit.edu	37	1	248487634	248487634	+	Silent	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:248487634G>T	ENST00000317965.2	-	1	265	c.237C>A	c.(235-237)ccC>ccA	p.P79P		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P79P(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGCCATCTTGGGTACAGTGG	0.498																																						uc010pzk.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(235-237)CCC>CCA		olfactory receptor, family 2, subfamily M,							274.0	264.0	268.0					1																	248487634		2203	4300	6503	SO:0001819	synonymous_variant	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487634G>T	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.237C>A	1.37:g.248487634G>T							p.P79P	NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	237	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		79			Helical; Name=2; (Potential).		B2RNL0|Q6IEX6	Silent	SNP	ENST00000317965.2	37	c.237C>A	CCDS31111.1																																																																																				PASS	0.498	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		202	408	202	408	---	---	---	---
OR14C36	127066	broad.mit.edu	37	1	248512380	248512380	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:248512380G>T	ENST00000317861.1	+	1	304	c.304G>T	c.(304-306)Gtg>Ttg	p.V102L		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V102L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GGTCTTCCTCGTGGTTTTTTT	0.483																																						uc010pzl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(304-306)GTG>TTG		olfactory receptor, family 14, subfamily C,							71.0	62.0	65.0					1																	248512380		2203	4300	6503	SO:0001583	missense	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512380G>T	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.304G>T	1.37:g.248512380G>T	ENSP00000324534:p.Val102Leu						p.V102L	NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN			1	304	+			102			Helical; Name=3; (Potential).		Q6IEZ6	Missense_Mutation	SNP	ENST00000317861.1	37	c.304G>T	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094954	0.36952	.	.	ENSG00000177174	ENST00000317861	T	0.01446	4.88	4.05	1.98	0.26296	GPCR, rhodopsin-like superfamily (1);	0.406531	0.18128	N	0.150824	T	0.01627	0.0052	L	0.28054	0.825	0.09310	N	1	B	0.27264	0.173	B	0.31101	0.124	T	0.47071	-0.9145	10	0.38643	T	0.18	.	6.6493	0.22953	0.091:0.0:0.3658:0.5432	.	102	Q8NHC7	O14CZ_HUMAN	L	102	ENSP00000324534:V102L	ENSP00000324534:V102L	V	+	1	0	OR14C36	246579003	0.000000	0.05858	0.005000	0.12908	0.656000	0.38851	0.363000	0.20301	0.912000	0.36772	0.395000	0.25975	GTG		PASS	0.483	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		46	102	46	102	---	---	---	---
OR2T4	127074	broad.mit.edu	37	1	248524928	248524928	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:248524928T>A	ENST00000366475.1	+	1	46	c.46T>A	c.(46-48)Ttc>Atc	p.F16I		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F16I(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGGTCGGATTTCATCCTGAT	0.493																																						uc001ieh.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(46-48)TTC>ATC		olfactory receptor, family 2, subfamily T,							89.0	81.0	83.0					1																	248524928		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248524928T>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.46T>A	1.37:g.248524928T>A	ENSP00000355431:p.Phe16Ile						p.F16I	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	46	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		16			Extracellular (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.46T>A	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	T	9.560	1.118227	0.20877	.	.	ENSG00000196944	ENST00000366475	T	0.01725	4.67	1.11	1.11	0.20524	.	.	.	.	.	T	0.00936	0.0031	N	0.14661	0.345	0.09310	N	1	P	0.41524	0.753	B	0.23852	0.049	T	0.51379	-0.8713	9	0.59425	D	0.04	.	4.3121	0.10976	0.0:0.2045:0.0:0.7955	.	16	Q8NH00	OR2T4_HUMAN	I	16	ENSP00000355431:F16I	ENSP00000355431:F16I	F	+	1	0	OR2T4	246591551	0.001000	0.12720	0.108000	0.21378	0.132000	0.20833	-0.730000	0.04915	0.793000	0.33875	0.331000	0.21540	TTC		PASS	0.493	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		35	95	35	95	---	---	---	---
OR2T5	401993	broad.mit.edu	37	1	248651977	248651977	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:248651977C>A	ENST00000366473.2	+	1	93	c.88C>A	c.(88-90)Cta>Ata	p.L30I		NM_001004697.1	NP_001004697.1	Q6IEZ7	OR2T5_HUMAN	olfactory receptor, family 2, subfamily T, member 5	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L30I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACATCCAGCTCTACTTAGTGT	0.498																																						uc001iem.1																			1	Substitution - Missense(1)		lung(1)		0						c.(88-90)CTA>ATA		olfactory receptor, family 2, subfamily T,							152.0	166.0	162.0					1																	248651977		2199	4298	6497	SO:0001583	missense	401993				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248651977C>A	BK004465	CCDS31118.1	1q44	2012-08-09			ENSG00000203661	ENSG00000203661		"""GPCR / Class A : Olfactory receptors"""	15017	protein-coding gene	gene with protein product							Standard	NM_001004697		Approved		uc001iem.1	Q6IEZ7	OTTHUMG00000040481	ENST00000366473.2:c.88C>A	1.37:g.248651977C>A	ENSP00000355429:p.Leu30Ile						p.L30I	NM_001004697	NP_001004697	Q6IEZ7	OR2T5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	88	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		30			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000366473.2	37	c.88C>A	CCDS31118.1	.	.	.	.	.	.	.	.	.	.	c	5.791	0.330327	0.10956	.	.	ENSG00000203661	ENST00000366473	T	0.00630	6.1	2.64	0.415	0.16411	.	0.186913	0.26136	N	0.026121	T	0.00580	0.0019	L	0.35723	1.085	0.09310	N	1	B	0.18863	0.031	B	0.24394	0.053	T	0.50004	-0.8878	10	0.48119	T	0.1	.	0.6677	0.00853	0.2017:0.3704:0.1985:0.2294	.	30	Q6IEZ7	OR2T5_HUMAN	I	30	ENSP00000355429:L30I	ENSP00000355429:L30I	L	+	1	2	OR2T5	246718600	0.000000	0.05858	0.023000	0.16930	0.007000	0.05969	-4.510000	0.00223	-0.179000	0.10654	-0.891000	0.02926	CTA		PASS	0.498	OR2T5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097422.1	NM_001004697		42	282	42	282	---	---	---	---
PGBD2	267002	broad.mit.edu	37	1	249211933	249211933	+	Silent	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr1:249211933C>T	ENST00000329291.5	+	3	1297	c.1150C>T	c.(1150-1152)Cta>Tta	p.L384L	PGBD2_ENST00000539153.1_Silent_p.L381L|PGBD2_ENST00000355360.4_Silent_p.L133L	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	384								p.L384L(1)|p.L133L(1)		NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GCGATGTCCCCTAAAAGACCC	0.453																																						uc001ifh.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1150-1152)CTA>TTA		hypothetical protein LOC267002 isoform a							62.0	67.0	65.0					1																	249211933		2203	4300	6503	SO:0001819	synonymous_variant	267002							g.chr1:249211933C>T	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1150C>T	1.37:g.249211933C>T						PGBD2_uc001ifg.2_Silent_p.L133L|PGBD2_uc009xhd.2_Silent_p.L381L	p.L384L	NM_170725	NP_733843	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	1297	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	384					B3KVR8|Q6MZF8	Silent	SNP	ENST00000329291.5	37	c.1150C>T	CCDS31128.1																																																																																				PASS	0.453	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			57	123	57	123	---	---	---	---
TPO	7173	broad.mit.edu	37	2	1491690	1491690	+	Silent	SNP	T	T	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr2:1491690T>C	ENST00000345913.4	+	10	1786	c.1695T>C	c.(1693-1695)ttT>ttC	p.F565F	TPO_ENST00000329066.4_Silent_p.F565F|TPO_ENST00000382201.3_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Silent_p.F392F|TPO_ENST00000337415.3_Silent_p.F565F|TPO_ENST00000349624.3_Silent_p.F392F|TPO_ENST00000346956.3_Silent_p.F565F	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	565					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.F565F(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AAAGGCTCTTTGTGCTGTCCA	0.582																																						uc002qww.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(1693-1695)TTT>TTC		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						140.0	118.0	126.0					2																	1491690		2203	4300	6503	SO:0001819	synonymous_variant	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1491690T>C		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1695T>C	2.37:g.1491690T>C						TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Intron|TPO_uc002qwr.2_Silent_p.F565F|TPO_uc002qwx.2_Intron|TPO_uc010yio.1_Silent_p.F392F|TPO_uc010yip.1_Silent_p.F565F|TPO_uc002qwy.1_Intron|TPO_uc002qwz.2_Intron	p.F565F	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	10	1786	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	565			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	c.1695T>C	CCDS1643.1																																																																																				PASS	0.582	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		55	119	55	119	---	---	---	---
THADA	63892	broad.mit.edu	37	2	43547590	43547590	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr2:43547590T>A	ENST00000405006.4	-	31	4784	c.4433A>T	c.(4432-4434)cAg>cTg	p.Q1478L	THADA_ENST00000405975.2_Missense_Mutation_p.Q1478L|THADA_ENST00000330266.7_Intron|THADA_ENST00000415080.2_Missense_Mutation_p.Q1159L	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1478								p.Q1478L(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CATACCTGGCTGGTTGTCCTT	0.418																																						uc002rsw.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(4432-4434)CAG>CTG		thyroid adenoma associated							126.0	122.0	123.0					2																	43547590		1892	4112	6004	SO:0001583	missense	63892						binding	g.chr2:43547590T>A	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.4433A>T	2.37:g.43547590T>A	ENSP00000385995:p.Gln1478Leu					THADA_uc010far.2_Missense_Mutation_p.Q673L|THADA_uc002rsx.3_Missense_Mutation_p.Q1478L|THADA_uc002rsy.3_RNA	p.Q1478L	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN			31	4785	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1478					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.4433A>T	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.19|13.19	2.162165|2.162165	0.38217|0.38217	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006|ENST00000407351	T;T;T|.	0.12672|.	2.87;2.66;2.87|.	5.37|5.37	1.69|1.69	0.24217|0.24217	.|.	0.325278|.	0.27134|.	N|.	0.020766|.	T|T	0.29389|0.29389	0.0732|0.0732	L|L	0.29908|0.29908	0.895|0.895	0.28224|0.28224	N|N	0.926399|0.926399	B;B|.	0.31125|.	0.136;0.309|.	B;B|.	0.22386|.	0.02;0.039|.	T|T	0.24657|0.24657	-1.0154|-1.0154	10|5	0.24483|.	T|.	0.36|.	-12.8743|-12.8743	5.1541|5.1541	0.15025|0.15025	0.0:0.1555:0.1522:0.6923|0.0:0.1555:0.1522:0.6923	.|.	1405;1478|.	B6ZDQ0;Q6YHU6|.	.;THADA_HUMAN|.	L|C	1478;1405;1159;1478|718	ENSP00000386088:Q1478L;ENSP00000416048:Q1159L;ENSP00000385995:Q1478L|.	ENSP00000349464:Q1405L|.	Q|S	-|-	2|1	0|0	THADA|THADA	43401094|43401094	0.973000|0.973000	0.33851|0.33851	0.458000|0.458000	0.27068|0.27068	0.924000|0.924000	0.55760|0.55760	0.633000|0.633000	0.24598|0.24598	0.142000|0.142000	0.18901|0.18901	-0.321000|-0.321000	0.08615|0.08615	CAG|AGC		PASS	0.418	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		61	159	61	159	---	---	---	---
GTF2A1L	11036	broad.mit.edu	37	2	48896930	48896930	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr2:48896930G>C	ENST00000403751.3	+	7	1085	c.1048G>C	c.(1048-1050)Gat>Cat	p.D350H	GTF2A1L_ENST00000430487.2_Missense_Mutation_p.D316H|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.D1054H|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.D1054H|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.D1054H|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.D1007H|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.D1054H|LHCGR_ENST00000420913.3_5'Flank	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	350					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.D1054H(1)		lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AATTCAAGTAGATGGAAGCGG	0.358																																						uc010yol.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(3019-3021)GAT>CAT		stonin 1							109.0	117.0	115.0					2																	48896930		2203	4300	6503	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48896930G>C	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.1048G>C	2.37:g.48896930G>C	ENSP00000384597:p.Asp350His					STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.D1054H|GTF2A1L_uc002rws.1_Missense_Mutation_p.D350H|GTF2A1L_uc010yom.1_Missense_Mutation_p.D316H|GTF2A1L_uc002rwt.2_Missense_Mutation_p.D350H	p.D1007H	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		6	3066	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	1007					B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	c.3019G>C	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922850	0.52653	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000430487;ENST00000403751	D;D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.92384	0.7583	M	0.87827	2.91	0.80722	D	1	D;D;D;P;D	0.89917	1.0;0.995;0.999;0.93;1.0	D;P;D;P;D	0.83275	0.988;0.871;0.975;0.726;0.996	D	0.93418	0.6774	10	0.87932	D	0	.	17.8787	0.88833	0.0:0.0:1.0:0.0	.	316;1007;1054;350;1054	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	H	1054;1054;1054;1054;1007;349;316;350	ENSP00000385499:D1054H;ENSP00000385701:D1054H;ENSP00000378236:D1054H;ENSP00000311493:D1054H;ENSP00000378234:D1007H;ENSP00000387896:D316H;ENSP00000384597:D350H	ENSP00000384597:D350H	D	+	1	0	STON1-GTF2A1L;GTF2A1L	48750434	1.000000	0.71417	1.000000	0.80357	0.212000	0.24457	7.841000	0.86834	2.573000	0.86826	0.561000	0.74099	GAT		PASS	0.358	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		48	280	48	280	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50733744	50733744	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr2:50733744C>A	ENST00000406316.2	-	13	3862	c.2386G>T	c.(2386-2388)Gag>Tag	p.E796*	NRXN1_ENST00000401669.2_Nonsense_Mutation_p.E796*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.E788*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.E788*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.E796*|NRXN1_ENST00000404971.1_Nonsense_Mutation_p.E836*|NRXN1_ENST00000331040.5_5'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	796	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.E837*(1)|p.E836*(1)|p.E796*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AAAAGAGTCTCGGGACCTTTG	0.448																																						uc010fbq.2																			3	Substitution - Nonsense(3)		lung(3)	ovary(2)	2						c.(2506-2508)GAG>TAG		neurexin 1 isoform alpha2 precursor							105.0	99.0	101.0					2																	50733744		1897	4123	6020	SO:0001587	stop_gained	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50733744C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2386G>T	2.37:g.50733744C>A	ENSP00000384311:p.Glu796*					NRXN1_uc002rxb.3_Nonsense_Mutation_p.E468*|NRXN1_uc002rxe.3_Nonsense_Mutation_p.E796*|NRXN1_uc002rxc.1_RNA	p.E836*	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		13	3983	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Nonsense_Mutation	SNP	ENST00000406316.2	37	c.2506G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	50	17.121283	0.99879	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	19.8388	0.96673	0.0:1.0:0.0:0.0	.	.	.	.	X	836;796;788;796;837;788;796	.	ENSP00000385017:E796X	E	-	1	0	NRXN1	50587248	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.695000	0.91970	0.561000	0.74099	GAG		PASS	0.448	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			15	59	15	59	---	---	---	---
CCDC85A	114800	broad.mit.edu	37	2	56599543	56599543	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr2:56599543C>G	ENST00000407595.2	+	4	1884	c.1382C>G	c.(1381-1383)tCc>tGc	p.S461C	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	461								p.S461C(1)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGCTGGGGGTCCAGAGCCCGG	0.517																																						uc002rzn.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)	5						c.(1381-1383)TCC>TGC		coiled-coil domain containing 85A							28.0	32.0	31.0					2																	56599543		1915	4116	6031	SO:0001583	missense	114800							g.chr2:56599543C>G	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1382C>G	2.37:g.56599543C>G	ENSP00000384040:p.Ser461Cys						p.S461C	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	1884	+			461						Missense_Mutation	SNP	ENST00000407595.2	37	c.1382C>G	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646405	0.47258	.	.	ENSG00000055813	ENST00000407595;ENST00000407862	.	.	.	5.84	4.96	0.65561	.	0.000000	0.41500	D	0.000867	T	0.20659	0.0497	N	0.08118	0	0.19575	N	0.999961	B	0.27732	0.187	B	0.30855	0.121	T	0.16335	-1.0406	9	0.66056	D	0.02	-41.1946	9.8696	0.41166	0.0:0.9095:0.0:0.0905	.	461	Q96PX6	CC85A_HUMAN	C	461;50	.	ENSP00000384040:S461C	S	+	2	0	CCDC85A	56453047	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.072000	0.41510	2.767000	0.95098	0.591000	0.81541	TCC		PASS	0.517	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			5	16	5	16	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73651667	73651667	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr2:73651667C>G	ENST00000264448.6	+	5	985	c.874C>G	c.(874-876)Cgc>Ggc	p.R292G	ALMS1_ENST00000409009.1_Missense_Mutation_p.R250G|ALMS1_ENST00000377715.1_Missense_Mutation_p.R292G	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	292					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.R292G(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGCAAGCAGTCGCTTTAGTGT	0.443																																						uc002sje.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(877-879)CGC>GGC		Alstrom syndrome 1							75.0	73.0	74.0					2																	73651667		1900	4113	6013	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73651667C>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.874C>G	2.37:g.73651667C>G	ENSP00000264448:p.Arg292Gly					ALMS1_uc002sjf.1_Missense_Mutation_p.R250G	p.R293G	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			6	988	+			292					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.877C>G	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	0.300	-0.974458	0.02215	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.15834	3.27;3.27;2.39	5.15	0.924	0.19418	.	0.749007	0.11969	N	0.511976	T	0.08268	0.0206	N	0.08118	0	0.19575	N	0.999969	B;B	0.09022	0.002;0.002	B;B	0.17979	0.02;0.02	T	0.32745	-0.9895	10	0.46703	T	0.11	.	6.3499	0.21370	0.0:0.4157:0.0:0.5843	.	250;292	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	G	250;292;292	ENSP00000386627:R250G;ENSP00000264448:R292G;ENSP00000366944:R292G	ENSP00000264448:R292G	R	+	1	0	ALMS1	73505175	0.800000	0.28916	0.986000	0.45419	0.279000	0.26890	0.569000	0.23638	0.331000	0.23511	-0.416000	0.06073	CGC		PASS	0.443	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		30	26	30	26	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73680984	73680984	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr2:73680984C>G	ENST00000264448.6	+	8	7438	c.7327C>G	c.(7327-7329)Cta>Gta	p.L2443V	ALMS1-IT1_ENST00000441587.2_RNA|ALMS1_ENST00000377715.1_Missense_Mutation_p.L2443V|ALMS1_ENST00000409009.1_Missense_Mutation_p.L2401V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2443					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.L2443V(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGATGTTCTTCTAAACTTCTT	0.428																																						uc002sje.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(7333-7335)CTA>GTA		Alstrom syndrome 1							157.0	152.0	154.0					2																	73680984		1908	4134	6042	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73680984C>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.7327C>G	2.37:g.73680984C>G	ENSP00000264448:p.Leu2443Val					ALMS1_uc002sjf.1_Missense_Mutation_p.L2401V|ALMS1_uc002sjg.2_Missense_Mutation_p.L1831V|ALMS1_uc002sjh.1_Missense_Mutation_p.L1831V	p.L2445V	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			10	7444	+			2443					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.7333C>G	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113731	0.56398	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.25912	2.74;2.74;1.77	5.58	3.76	0.43208	.	0.000000	0.39687	N	0.001283	T	0.41994	0.1183	L	0.54323	1.7	0.26376	N	0.976806	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.996;0.991;0.991	T	0.12041	-1.0563	10	0.62326	D	0.03	.	8.9738	0.35924	0.0:0.8204:0.0:0.1796	.	2443;2401;2443	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	V	2401;2443;2443	ENSP00000386627:L2401V;ENSP00000264448:L2443V;ENSP00000366944:L2443V	ENSP00000264448:L2443V	L	+	1	2	ALMS1	73534492	0.179000	0.23135	1.000000	0.80357	0.990000	0.78478	0.343000	0.19944	1.515000	0.48885	0.655000	0.94253	CTA		PASS	0.428	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		60	67	60	67	---	---	---	---
DQX1	165545	broad.mit.edu	37	2	74747070	74747070	+	Silent	SNP	C	C	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr2:74747070C>G	ENST00000404568.3	-	9	1806	c.1587G>C	c.(1585-1587)ctG>ctC	p.L529L	DQX1_ENST00000393951.2_Silent_p.L529L	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	529						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.L411L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						ACACCTGGATCAGAGAACTGT	0.512																																						uc010yrw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1585-1587)CTG>CTC		DEAQ box polypeptide 1 (RNA-dependent ATPase)							106.0	110.0	109.0					2																	74747070		2203	4300	6503	SO:0001819	synonymous_variant	165545					nucleus	ATP binding|helicase activity|nucleic acid binding	g.chr2:74747070C>G	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1587G>C	2.37:g.74747070C>G						DQX1_uc002smc.2_Silent_p.L90L	p.L529L	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN			9	1752	-			529					Q6B017|Q8NAM8	Silent	SNP	ENST00000404568.3	37	c.1587G>C	CCDS1949.2																																																																																				PASS	0.512	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		78	237	78	237	---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80529775	80529775	+	Silent	SNP	C	C	A	rs200884012	byFrequency	TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr2:80529775C>A	ENST00000295057.3	-	2	1826	c.1170G>T	c.(1168-1170)tcG>tcT	p.S390S	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.S390S|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	390					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.S390S(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						GCGTGGTGGCCGAGCTGGCAG	0.721										HNSCC(69;0.2)																												uc002sok.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1168-1170)TCG>TCT		leucine rich repeat transmembrane neuronal 1																																				SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529775C>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.1170G>T	2.37:g.80529775C>A		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.S390S	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	1440	-			390			Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.1170G>T	CCDS1966.1																																																																																				PASS	0.721	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		11	19	11	19	---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80530814	80530814	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr2:80530814C>A	ENST00000295057.3	-	2	787	c.131G>T	c.(130-132)cGg>cTg	p.R44L	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.R44L|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	44	LRRNT.				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.R44L(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						CCCCTCGCACCGGCACAGCTG	0.701										HNSCC(69;0.2)																												uc002sok.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(130-132)CGG>CTG		leucine rich repeat transmembrane neuronal 1							13.0	17.0	16.0					2																	80530814		2123	4185	6308	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530814C>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.131G>T	2.37:g.80530814C>A	ENSP00000295057:p.Arg44Leu	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.R44L	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	401	-			44			LRRNT.|Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.131G>T	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.946678	0.34377	.	.	ENSG00000162951	ENST00000295057;ENST00000409148;ENST00000416268;ENST00000452811;ENST00000415098	T;T;T;T;D	0.86164	-1.23;-1.23;0.64;0.48;-2.08	4.65	4.65	0.58169	Leucine-rich repeat-containing N-terminal (1);	0.074101	0.53938	U	0.000042	D	0.91355	0.7273	M	0.67397	2.05	0.58432	D	0.999999	D	0.71674	0.998	P	0.59595	0.86	D	0.91304	0.5069	9	.	.	.	.	17.5101	0.87758	0.0:1.0:0.0:0.0	.	44	Q86UE6	LRRT1_HUMAN	L	44	ENSP00000295057:R44L;ENSP00000386646:R44L;ENSP00000415368:R44L;ENSP00000389473:R44L;ENSP00000404557:R44L	.	R	-	2	0	LRRTM1	80384325	1.000000	0.71417	1.000000	0.80357	0.010000	0.07245	4.927000	0.63440	2.121000	0.65114	0.436000	0.28706	CGG		PASS	0.701	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		16	12	16	12	---	---	---	---
ITPRIPL1	150771	broad.mit.edu	37	2	96992837	96992837	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr2:96992837C>A	ENST00000439118.2	+	3	719	c.468C>A	c.(466-468)taC>taA	p.Y156*	ITPRIPL1_ENST00000542887.1_Nonsense_Mutation_p.Y148*|ITPRIPL1_ENST00000361124.4_Nonsense_Mutation_p.Y164*|ITPRIPL1_ENST00000536814.1_Nonsense_Mutation_p.Y148*	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	156						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.Y164*(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCACCTCTTACAACTGGCTTA	0.537																																						uc002svx.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(466-468)TAC>TAA		inositol 1,4,5-triphosphate receptor interacting							88.0	87.0	88.0					2																	96992837		2203	4300	6503	SO:0001587	stop_gained	150771					integral to membrane		g.chr2:96992837C>A		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.468C>A	2.37:g.96992837C>A	ENSP00000389308:p.Tyr156*					ITPRIPL1_uc010yuk.1_Nonsense_Mutation_p.Y148*|ITPRIPL1_uc002svy.2_Nonsense_Mutation_p.Y164*|ITPRIPL1_uc010yul.1_Nonsense_Mutation_p.Y148*	p.Y156*	NM_001008949	NP_001008949	Q6GPH6	IPIL1_HUMAN			3	803	+			156			Cytoplasmic (Potential).		F5H1L8|Q8NE61	Nonsense_Mutation	SNP	ENST00000439118.2	37	c.468C>A	CCDS46360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.215189|5.215189	0.95104|0.95104	.|.	.|.	ENSG00000198885|ENSG00000198885	ENST00000420728|ENST00000420176;ENST00000536814;ENST00000439118;ENST00000361124;ENST00000542887	.|.	.|.	.|.	4.9|4.9	2.09|2.09	0.27110|0.27110	.|.	.|0.763029	.|0.10785	.|N	.|0.634497	T|.	0.29126|.	0.0724|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.15093|.	-1.0449|.	4|.	.|0.02654	.|T	.|1	-5.1731|-5.1731	8.5539|8.5539	0.33469|0.33469	0.0:0.737:0.0:0.263|0.0:0.737:0.0:0.263	.|.	.|.	.|.	.|.	K|X	188|148;148;156;164;148	.|.	.|ENSP00000355121:Y164X	T|Y	+|+	2|3	0|2	ITPRIPL1|ITPRIPL1	96356564|96356564	0.532000|0.532000	0.26346|0.26346	0.983000|0.983000	0.44433|0.44433	0.930000|0.930000	0.56654|0.56654	0.384000|0.384000	0.20668|0.20668	0.668000|0.668000	0.31126|0.31126	0.655000|0.655000	0.94253|0.94253	ACA|TAC		PASS	0.537	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		20	154	20	154	---	---	---	---
WDR33	55339	broad.mit.edu	37	2	128471191	128471191	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr2:128471191C>A	ENST00000322313.4	-	18	3432	c.3274G>T	c.(3274-3276)Gag>Tag	p.E1092*		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1092					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E1092*(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CGTGGGTCCTCGGGATCCCGG	0.612																																						uc002tpg.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(3274-3276)GAG>TAG		WD repeat domain 33 isoform 1							115.0	123.0	120.0					2																	128471191		2203	4300	6503	SO:0001587	stop_gained	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128471191C>A		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3274G>T	2.37:g.128471191C>A	ENSP00000325377:p.Glu1092*						p.E1092*	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	18	3457	-	Colorectal(110;0.1)		1092					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Nonsense_Mutation	SNP	ENST00000322313.4	37	c.3274G>T	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	43	9.869972	0.99284	.	.	ENSG00000136709	ENST00000322313	.	.	.	5.81	5.81	0.92471	.	0.447241	0.24534	N	0.037695	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-3.3481	20.0726	0.97729	0.0:1.0:0.0:0.0	.	.	.	.	X	1092	.	ENSP00000325377:E1092X	E	-	1	0	WDR33	128187661	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.949000	0.70257	2.738000	0.93877	0.655000	0.94253	GAG		PASS	0.612	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		99	269	99	269	---	---	---	---
POTEE	445582	broad.mit.edu	37	2	132021708	132021708	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr2:132021708A>C	ENST00000356920.5	+	15	2774	c.2680A>C	c.(2680-2682)Acc>Ccc	p.T894P	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	894	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.T894P(1)									GAAGATCCTCACCGAGCGTGG	0.587																																						uc002tsn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2680-2682)ACC>CCC		protein expressed in prostate, ovary, testis,							43.0	43.0	43.0					2																	132021708		2203	4281	6484	SO:0001583	missense	445582						ATP binding	g.chr2:132021708A>C	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2680A>C	2.37:g.132021708A>C	ENSP00000439189:p.Thr894Pro					PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.T494P|POTEE_uc002tsl.2_Missense_Mutation_p.T476P|POTEE_uc010fmy.1_Missense_Mutation_p.T358P	p.T894P	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			15	2732	+			894			Actin-like.		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.2680A>C	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	12.12	1.841805	0.32513	.	.	ENSG00000188219	ENST00000356920	D	0.94613	-3.47	.	.	.	.	.	.	.	.	D	0.95667	0.8591	H	0.95437	3.67	0.80722	D	1	D	0.56746	0.977	P	0.48677	0.586	D	0.92830	0.6279	8	0.87932	D	0	.	4.5487	0.12098	0.9994:0.0:6.0E-4:0.0	.	894	Q6S8J3	POTEE_HUMAN	P	894	ENSP00000439189:T894P	ENSP00000439189:T894P	T	+	1	0	AC131180.1	131738178	1.000000	0.71417	0.184000	0.23157	0.186000	0.23388	6.177000	0.71961	0.103000	0.17682	0.102000	0.15555	ACC		PASS	0.587	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		9	136	9	136	---	---	---	---
LCT	3938	broad.mit.edu	37	2	136575532	136575532	+	Silent	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr2:136575532G>T	ENST00000264162.2	-	6	1096	c.1086C>A	c.(1084-1086)atC>atA	p.I362I	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	362	4 X approximate repeats.		I -> V (in dbSNP:rs4954449). {ECO:0000269|PubMed:1902057, ECO:0000269|PubMed:2460343}.		carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.I362I(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	ATGCTTCCCAGATTCTCTGAT	0.577																																						uc002tuu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(1084-1086)ATC>ATA		lactase-phlorizin hydrolase preproprotein							68.0	74.0	72.0					2																	136575532		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136575532G>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1086C>A	2.37:g.136575532G>T							p.I362I	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	6	1097	-			362			Extracellular (Potential).|4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.1086C>A	CCDS2178.1																																																																																				PASS	0.577	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		66	66	66	66	---	---	---	---
HNMT	3176	broad.mit.edu	37	2	138762736	138762736	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr2:138762736T>A	ENST00000280097.3	+	5	646	c.464T>A	c.(463-465)cTg>cAg	p.L155Q	HNMT_ENST00000485653.1_3'UTR|HNMT_ENST00000410115.1_Missense_Mutation_p.L155Q	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	155					brain development (GO:0007420)|hyperosmotic response (GO:0006972)|respiratory gaseous exchange (GO:0007585)|response to amine (GO:0014075)|response to cocaine (GO:0042220)|response to glucocorticoid (GO:0051384)|response to interleukin-1 (GO:0070555)|response to tumor cell (GO:0002347)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	histamine N-methyltransferase activity (GO:0046539)	p.L155Q(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Chlorhexidine(DB00878)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	CCAGCTACCCTGAAATTCTTC	0.363																																						uc002tvc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(463-465)CTG>CAG		histamine N-methyltransferase isoform 1	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)						201.0	194.0	196.0					2																	138762736		2203	4298	6501	SO:0001583	missense	3176				respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity	g.chr2:138762736T>A		CCDS2181.1, CCDS33296.1, CCDS33297.1	2q22.1	2008-02-05			ENSG00000150540	ENSG00000150540	2.1.1.8		5028	protein-coding gene	gene with protein product		605238					Standard	NM_001024074		Approved		uc002tvf.3	P50135	OTTHUMG00000131751	ENST00000280097.3:c.464T>A	2.37:g.138762736T>A	ENSP00000280097:p.Leu155Gln					HNMT_uc002tvf.2_Missense_Mutation_p.L155Q	p.L155Q	NM_006895	NP_008826	P50135	HNMT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.125)	6	612	+			155					B2R9J3|Q546Z6|Q7Z7I2|Q8IU56|Q8WW98|Q9BRW6	Missense_Mutation	SNP	ENST00000280097.3	37	c.464T>A	CCDS2181.1	.	.	.	.	.	.	.	.	.	.	T	19.91	3.915357	0.73098	.	.	ENSG00000150540	ENST00000410115;ENST00000280097	T;T	0.26810	1.71;1.71	5.48	5.48	0.80851	Methyltransferase type 12 (1);	0.618223	0.15792	N	0.244402	T	0.50463	0.1617	M	0.83223	2.63	0.50813	D	0.999897	D	0.63046	0.992	P	0.56612	0.802	T	0.56619	-0.7949	10	0.87932	D	0	-11.7312	15.8924	0.79309	0.0:0.0:0.0:1.0	.	155	P50135	HNMT_HUMAN	Q	155	ENSP00000386940:L155Q;ENSP00000280097:L155Q	ENSP00000280097:L155Q	L	+	2	0	HNMT	138479206	0.967000	0.33354	0.998000	0.56505	0.969000	0.65631	5.264000	0.65513	2.210000	0.71456	0.533000	0.62120	CTG		PASS	0.363	HNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254673.1			145	162	145	162	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141108424	141108424	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr2:141108424C>A	ENST00000389484.3	-	77	12805	c.11834G>T	c.(11833-11835)gGa>gTa	p.G3945V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3945					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.G3945V(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTAGAAAATTCCGCCTGGATT	0.328										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(11833-11835)GGA>GTA		low density lipoprotein-related protein 1B							77.0	79.0	79.0					2																	141108424		2202	4299	6501	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141108424C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11834G>T	2.37:g.141108424C>A	ENSP00000374135:p.Gly3945Val	TSP Lung(27;0.18)					p.G3945V	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	77	12806	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3945			Extracellular (Potential).|LDL-receptor class B 33.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11834G>T	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.43|18.43	3.622836|3.622836	0.66787|0.66787	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977|ENST00000389484;ENST00000544579	.|D	.|0.91124	.|-2.79	5.48|5.48	5.48|5.48	0.80851|0.80851	.|Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	.|0.145398	.|0.45867	.|D	.|0.000332	.|D	.|0.94640	.|0.8272	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	.|D	.|0.92467	.|0.5982	.|10	.|0.27082	.|T	.|0.32	.|.	19.706|19.706	0.96072|0.96072	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|3945	.|Q9NZR2	.|LRP1B_HUMAN	X|V	177|3945;3883	.|ENSP00000374135:G3945V	.|ENSP00000374135:G3945V	E|G	-|-	1|2	0|0	LRP1B|LRP1B	140824894|140824894	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.991000|0.991000	0.79684|0.79684	7.336000|7.336000	0.79245|0.79245	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GAA|GGA		PASS	0.328	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		55	66	55	66	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166900510	166900510	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr2:166900510C>A	ENST00000303395.4	-	11	1711	c.1712G>T	c.(1711-1713)aGa>aTa	p.R571I	SCN1A_ENST00000423058.2_Missense_Mutation_p.R571I|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R571I|SCN1A_ENST00000375405.3_Missense_Mutation_p.R571I|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	571					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.R571I(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGGCTTGTTCTGCTATTTCG	0.438																																						uc010zcz.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(1711-1713)AGA>ATA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						80.0	79.0	80.0					2																	166900510		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166900510C>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1712G>T	2.37:g.166900510C>A	ENSP00000303540:p.Arg571Ile					SCN1A_uc002udo.3_Missense_Mutation_p.R440I|SCN1A_uc010fpk.2_Missense_Mutation_p.R440I	p.R571I	NM_006920	NP_008851	P35498	SCN1A_HUMAN			11	1730	-			571					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.1712G>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550763	0.65311	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	5.59	5.59	0.84812	Domain of unknown function DUF3451 (1);	0.000000	0.85682	D	0.000000	D	0.95978	0.8690	M	0.86178	2.8	0.58432	D	0.999999	P;D;P	0.53462	0.95;0.96;0.484	P;P;B	0.57776	0.735;0.827;0.319	D	0.96254	0.9185	10	0.87932	D	0	.	19.5889	0.95499	0.0:1.0:0.0:0.0	.	571;571;571	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	I	571	ENSP00000407030:R571I;ENSP00000303540:R571I;ENSP00000364554:R571I;ENSP00000386312:R571I	ENSP00000303540:R571I	R	-	2	0	SCN1A	166608756	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.562000	0.45914	2.620000	0.88729	0.561000	0.74099	AGA		PASS	0.438	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		60	57	60	57	---	---	---	---
SCN7A	6332	broad.mit.edu	37	2	167334122	167334122	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr2:167334122G>A	ENST00000409855.1	-	2	211	c.85C>T	c.(85-87)Cat>Tat	p.H29Y		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	29					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.H29Y(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TCTTCATTATGTGTTTTAGCA	0.368																																						uc002udu.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(85-87)CAT>TAT		sodium channel, voltage-gated, type VII, alpha							67.0	61.0	63.0					2																	167334122		1819	4078	5897	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167334122G>A	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.85C>T	2.37:g.167334122G>A	ENSP00000386796:p.His29Tyr					SCN7A_uc002udv.1_Missense_Mutation_p.H29Y	p.H29Y	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			2	212	-			29						Missense_Mutation	SNP	ENST00000409855.1	37	c.85C>T	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	G	5.844	0.339958	0.11069	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98075	-4.07;-4.08;-4.7	4.63	1.56	0.23342	.	0.828321	0.10555	N	0.660906	D	0.93687	0.7983	L	0.31294	0.92	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	D	0.87961	0.2730	10	0.59425	D	0.04	.	5.4497	0.16556	0.0837:0.1408:0.6307:0.1448	.	29	Q01118	SCN7A_HUMAN	Y	29	ENSP00000386796:H29Y;ENSP00000413699:H29Y;ENSP00000403846:H29Y	ENSP00000259060:H29Y	H	-	1	0	SCN7A	167042368	0.003000	0.15002	0.011000	0.14972	0.102000	0.19082	0.527000	0.22987	0.644000	0.30656	0.655000	0.94253	CAT		PASS	0.368	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			6	8	6	8	---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171240299	171240299	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr2:171240299G>T	ENST00000408978.4	+	12	1408	c.1265G>T	c.(1264-1266)tGc>tTc	p.C422F	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.C422F|MYO3B_ENST00000334231.6_Missense_Mutation_p.C431F	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	422	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)	p.C422F(2)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCTTACCAGTGCATGGTTACT	0.458																																						uc002ufy.2																			2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						c.(1264-1266)TGC>TTC		myosin IIIB isoform 2							125.0	117.0	119.0					2																	171240299		1980	4153	6133	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171240299G>T		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1265G>T	2.37:g.171240299G>T	ENSP00000386213:p.Cys422Phe					MYO3B_uc002ufv.2_Missense_Mutation_p.C409F|MYO3B_uc010fqb.1_Missense_Mutation_p.C409F|MYO3B_uc002ufz.2_Missense_Mutation_p.C422F|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	p.C422F	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN			12	1408	+			422			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.1265G>T	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130689	0.56828	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.9	5.9	0.94986	Myosin head, motor domain (2);	0.177805	0.64402	D	0.000006	T	0.80747	0.4682	N	0.16037	0.36	0.45056	D	0.998073	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.18263	0.012;0.002;0.021	T	0.73430	-0.3985	10	0.48119	T	0.1	.	20.2626	0.98452	0.0:0.0:1.0:0.0	.	422;422;422	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	F	422;422;421;431;431	ENSP00000386497:C422F;ENSP00000386213:C422F;ENSP00000446237:C431F;ENSP00000335100:C431F	ENSP00000314213:C421F	C	+	2	0	MYO3B	170948545	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.581000	0.74045	2.802000	0.96397	0.650000	0.86243	TGC		PASS	0.458	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			46	64	46	64	---	---	---	---
HOXD9	3235	broad.mit.edu	37	2	176987711	176987711	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr2:176987711C>G	ENST00000249499.6	+	1	624	c.215C>G	c.(214-216)tCg>tGg	p.S72W	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	72					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal system morphogenesis (GO:0048704)|hindlimb morphogenesis (GO:0035137)|mammary gland development (GO:0030879)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S72W(1)|p.S62W(1)		endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GCCCCCAGATCGGCCGTGTTC	0.761																																					GBM(47;924 952 7959 9248 12176)	uc010zex.1																			2	Substitution - Missense(2)		lung(2)		0						c.(214-216)TCG>TGG		homeobox D9							12.0	10.0	11.0					2																	176987711		2091	4035	6126	SO:0001583	missense	3235					nucleus	sequence-specific DNA binding	g.chr2:176987711C>G		CCDS2267.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128709	ENSG00000128709		"""Homeoboxes / ANTP class : HOXL subclass"""	5140	protein-coding gene	gene with protein product		142982	"""homeo box D9"""	HOX4C, HOX4		1973146, 1358459	Standard	NM_014213		Approved		uc010zex.2	P28356	OTTHUMG00000132516	ENST00000249499.6:c.215C>G	2.37:g.176987711C>G	ENSP00000249499:p.Ser72Trp						p.S72W	NM_014213	NP_055028	P28356	HXD9_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	1	299	+			72					Q86ST1	Missense_Mutation	SNP	ENST00000249499.6	37	c.215C>G	CCDS2267.2	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168813	0.57584	.	.	ENSG00000128709	ENST00000249499	D	0.94576	-3.46	3.73	3.73	0.42828	Hox9, N-terminal activation domain (1);	2.116780	0.03642	U	0.239633	D	0.97548	0.9197	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91732	0.5397	10	0.72032	D	0.01	.	16.0396	0.80654	0.0:1.0:0.0:0.0	.	72	P28356	HXD9_HUMAN	W	72	ENSP00000249499:S72W	ENSP00000249499:S72W	S	+	2	0	HOXD9	176695957	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.195000	0.65131	2.053000	0.61076	0.407000	0.27541	TCG		PASS	0.761	HOXD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255698.4			3	4	3	4	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179604277	179604277	+	Silent	SNP	G	G	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr2:179604277G>C	ENST00000591111.1	-	46	12956	c.12732C>G	c.(12730-12732)gtC>gtG	p.V4244V	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Silent_p.V4323V|TTN_ENST00000460472.2_Silent_p.V4198V|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Silent_p.V4561V|TTN_ENST00000342175.6_Silent_p.V4390V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0					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.V4323V(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)			TTTCGTCAGAGACAACAGCTG	0.423																																						uc010zfh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(13168-13170)GTC>GTG		titin isoform novex-2							98.0	95.0	96.0					2																	179604277		1890	4131	6021	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604277G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12732C>G	2.37:g.179604277G>C						TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Silent_p.V4323V|TTN_uc010zfj.1_Silent_p.V4198V|TTN_uc002umz.1_Intron	p.V4390V	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	13394	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.13170C>G																																																																																					PASS	0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	135	5	135	---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187523842	187523842	+	Silent	SNP	T	T	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr2:187523842T>A	ENST00000261023.3	+	18	2071	c.1797T>A	c.(1795-1797)gcT>gcA	p.A599A	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Silent_p.A553A|ITGAV_ENST00000374907.3_Silent_p.A563A	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	599					angiogenesis (GO:0001525)|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)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)	p.A599A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GAACAGCTGCTGATACAACAG	0.368																																					Melanoma(58;108 1995 6081)	uc002upq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(1)|skin(1)	4						c.(1795-1797)GCT>GCA		integrin alpha-V isoform 1 precursor							111.0	107.0	108.0					2																	187523842		2203	4300	6503	SO:0001819	synonymous_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187523842T>A		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1797T>A	2.37:g.187523842T>A						ITGAV_uc010frs.2_Silent_p.A563A|ITGAV_uc010zfv.1_Silent_p.A553A	p.A599A	NM_002210	NP_002201	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	18	2073	+			599			Extracellular (Potential).		A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Silent	SNP	ENST00000261023.3	37	c.1797T>A	CCDS2292.1																																																																																				PASS	0.368	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		70	86	70	86	---	---	---	---
AGXT	189	broad.mit.edu	37	2	241813423	241813423	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr2:241813423G>C	ENST00000307503.3	+	6	1011	c.624G>C	c.(622-624)caG>caC	p.Q208H		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	208					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)	p.Q208H(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	CGGGCTCCCAGAAGGCCCTGA	0.637																																						uc002waa.3																			1	Substitution - Missense(1)		lung(1)		0						c.(622-624)CAG>CAC		alanine-glyoxylate aminotransferase	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						109.0	96.0	100.0					2																	241813423		2203	4300	6503	SO:0001583	missense	189				glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	g.chr2:241813423G>C	D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"""oxalosis I"", ""primary hyperoxaluria type 1"", ""L-alanine: glyoxylate aminotransferase 1"", ""serine:pyruvate aminotransferase"", ""glycolicaciduria"""	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.624G>C	2.37:g.241813423G>C	ENSP00000302620:p.Gln208His					AGXT_uc002wab.3_5'Flank	p.Q208H	NM_000030	NP_000021	P21549	SPYA_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	6	745	+		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	208					Q53QU6	Missense_Mutation	SNP	ENST00000307503.3	37	c.624G>C	CCDS2543.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494502	0.44352	.	.	ENSG00000172482	ENST00000307503	T	0.80480	-1.38	4.1	4.1	0.47936	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.056892	0.64402	N	0.000001	D	0.92116	0.7501	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94556	0.7758	10	0.87932	D	0	-35.9651	16.6951	0.85333	0.0:0.0:1.0:0.0	.	208	P21549	SPYA_HUMAN	H	208	ENSP00000302620:Q208H	ENSP00000302620:Q208H	Q	+	3	2	AGXT	241462096	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	2.624000	0.46444	2.008000	0.58898	0.579000	0.79373	CAG		PASS	0.637	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	NM_000030		48	132	48	132	---	---	---	---
ZCWPW2	152098	broad.mit.edu	37	3	28454871	28454871	+	Silent	SNP	A	A	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr3:28454871A>T	ENST00000383768.2	+	3	500	c.312A>T	c.(310-312)gtA>gtT	p.V104V	ZCWPW2_ENST00000421010.1_Silent_p.V104V			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	104	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.						zinc ion binding (GO:0008270)	p.V104V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						TGGTTTTGGTAAAATTACAGA	0.358																																						uc003ceh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(310-312)GTA>GTT		zinc finger, CW type with PWWP domain 2							110.0	111.0	111.0					3																	28454871		2203	4300	6503	SO:0001819	synonymous_variant	152098						zinc ion binding	g.chr3:28454871A>T	BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	ENST00000383768.2:c.312A>T	3.37:g.28454871A>T						ZCWPW2_uc003cei.2_Silent_p.V104V	p.V104V	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN			3	480	+			104			PWWP.			Silent	SNP	ENST00000383768.2	37	c.312A>T	CCDS33723.1	.	.	.	.	.	.	.	.	.	.	A	10.36	1.329614	0.24167	.	.	ENSG00000206559	ENST00000428875	.	.	.	5.41	3.01	0.34805	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.9918	3.2847	0.06927	0.6135:0.244:0.1424:0.0	.	.	.	.	X	88	.	.	K	+	1	0	ZCWPW2	28429875	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.585000	0.23879	0.857000	0.35407	0.533000	0.62120	AAA		PASS	0.358	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341318.1	XM_087384		134	141	134	141	---	---	---	---
OXSR1	9943	broad.mit.edu	37	3	38294341	38294341	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr3:38294341G>A	ENST00000311806.3	+	18	1915	c.1543G>A	c.(1543-1545)Gat>Aat	p.D515N		NM_005109.2	NP_005100.1			oxidative stress responsive 1									p.D515N(1)		skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TATTCCTGATGATGGTAAACT	0.423																																						uc003chy.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1543-1545)GAT>AAT		oxidative-stress responsive 1							132.0	121.0	124.0					3																	38294341		2203	4300	6503	SO:0001583	missense	9943				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr3:38294341G>A	AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"""oxidative-stress responsive 1"""	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000311806.3:c.1543G>A	3.37:g.38294341G>A	ENSP00000311713:p.Asp515Asn					OXSR1_uc010hhb.2_Missense_Mutation_p.D449N	p.D515N	NM_005109	NP_005100	O95747	OXSR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	18	1885	+			515						Missense_Mutation	SNP	ENST00000311806.3	37	c.1543G>A	CCDS2675.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542904	0.86022	.	.	ENSG00000172939	ENST00000311806	T	0.74526	-0.85	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.76263	0.3963	L	0.55990	1.75	0.80722	D	1	P	0.41947	0.766	P	0.46275	0.51	T	0.79654	-0.1713	10	0.87932	D	0	-18.4589	15.9544	0.79871	0.0:0.0:1.0:0.0	.	515	O95747	OXSR1_HUMAN	N	515	ENSP00000311713:D515N	ENSP00000311713:D515N	D	+	1	0	OXSR1	38269345	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.218000	0.89768	2.519000	0.84933	0.585000	0.79938	GAT		PASS	0.423	OXSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253744.1	NM_005109		47	41	47	41	---	---	---	---
NKTR	4820	broad.mit.edu	37	3	42679873	42679873	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr3:42679873C>T	ENST00000232978.8	+	13	2865	c.2677C>T	c.(2677-2679)Cga>Tga	p.R893*	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	893					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R893*(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AAATTCAGAACGAGATGTCAC	0.398																																						uc003clo.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2677-2679)CGA>TGA		natural killer-tumor recognition sequence							48.0	48.0	48.0					3																	42679873		2203	4300	6503	SO:0001587	stop_gained	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42679873C>T		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.2677C>T	3.37:g.42679873C>T	ENSP00000232978:p.Arg893*					NKTR_uc003clm.1_Nonsense_Mutation_p.R640*|NKTR_uc003clp.2_Nonsense_Mutation_p.R640*|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Nonsense_Mutation_p.R783*|NKTR_uc003clr.1_Nonsense_Mutation_p.R640*|NKTR_uc003cls.2_Nonsense_Mutation_p.R593*	p.R893*	NM_005385	NP_005376	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	2824	+			893						Nonsense_Mutation	SNP	ENST00000232978.8	37	c.2677C>T	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	C	37	6.591255	0.97688	.	.	ENSG00000114857	ENST00000232978	.	.	.	5.52	4.62	0.57501	.	0.291317	0.27807	N	0.017771	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0364	9.2405	0.37493	0.2362:0.5473:0.2165:0.0	.	.	.	.	X	893	.	ENSP00000232978:R893X	R	+	1	2	NKTR	42654877	1.000000	0.71417	0.998000	0.56505	0.736000	0.42039	2.236000	0.43052	2.598000	0.87819	0.655000	0.94253	CGA		PASS	0.398	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		11	64	11	64	---	---	---	---
ADAMTS9	56999	broad.mit.edu	37	3	64619205	64619205	+	Silent	SNP	T	T	A	rs143406332		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr3:64619205T>A	ENST00000498707.1	-	14	2460	c.2118A>T	c.(2116-2118)atA>atT	p.I706I	ADAMTS9_ENST00000295903.4_Silent_p.I678I	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	706	Cys-rich.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.I706I(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GAGTTCCATCTATCACTCTGT	0.493																																						uc003dmg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|urinary_tract(1)|skin(1)	4						c.(2116-2118)ATA>ATT		ADAM metallopeptidase with thrombospondin type 1							112.0	107.0	109.0					3																	64619205		2203	4300	6503	SO:0001819	synonymous_variant	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64619205T>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.2118A>T	3.37:g.64619205T>A						ADAMTS9_uc011bfo.1_Silent_p.I678I|ADAMTS9_uc003dmh.1_Silent_p.I535I|ADAMTS9_uc003dmk.1_Silent_p.I706I	p.I706I	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	14	2150	-		Lung NSC(201;0.00682)	706			Cys-rich.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Silent	SNP	ENST00000498707.1	37	c.2118A>T	CCDS2903.1																																																																																				PASS	0.493	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			51	70	51	70	---	---	---	---
CNTN3	5067	broad.mit.edu	37	3	74385767	74385767	+	Silent	SNP	C	C	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr3:74385767C>G	ENST00000263665.6	-	11	1434	c.1407G>C	c.(1405-1407)gtG>gtC	p.V469V		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	469	Ig-like C2-type 5.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.V469V(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CAGCTTTAGTCACATTGGCTA	0.353																																						uc003dpm.1																			1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(1)|skin(1)	5						c.(1405-1407)GTG>GTC		contactin 3 precursor							120.0	102.0	108.0					3																	74385767		2203	4299	6502	SO:0001819	synonymous_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74385767C>G	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1407G>C	3.37:g.74385767C>G							p.V469V	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	11	1487	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	469			Ig-like C2-type 5.		B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	c.1407G>C	CCDS33790.1																																																																																				PASS	0.353	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		21	132	21	132	---	---	---	---
CNTN3	5067	broad.mit.edu	37	3	74411092	74411092	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr3:74411092C>A	ENST00000263665.6	-	10	1340	c.1313G>T	c.(1312-1314)aGg>aTg	p.R438M		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	438	Ig-like C2-type 5.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.R438M(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AGAGAGTGCCCTTGGGGAGGC	0.488																																						uc003dpm.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|skin(1)	5						c.(1312-1314)AGG>ATG		contactin 3 precursor							78.0	79.0	79.0					3																	74411092		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74411092C>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1313G>T	3.37:g.74411092C>A	ENSP00000263665:p.Arg438Met						p.R438M	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	10	1393	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	438			Ig-like C2-type 5.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.1313G>T	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.680779	0.47886	.	.	ENSG00000113805	ENST00000263665	T	0.67523	-0.27	5.41	0.819	0.18785	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.377447	0.30840	N	0.008780	T	0.52451	0.1735	L	0.41573	1.285	0.09310	N	1	B	0.19583	0.037	B	0.29176	0.099	T	0.47484	-0.9114	10	0.56958	D	0.05	.	4.2491	0.10686	0.1539:0.432:0.0:0.4141	.	438	Q9P232	CNTN3_HUMAN	M	438	ENSP00000263665:R438M	ENSP00000263665:R438M	R	-	2	0	CNTN3	74493782	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	0.270000	0.18607	0.304000	0.22809	-0.229000	0.12294	AGG		PASS	0.488	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		35	143	35	143	---	---	---	---
ROBO2	6092	broad.mit.edu	37	3	77526583	77526583	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr3:77526583G>T	ENST00000461745.1	+	3	1307	c.407G>T	c.(406-408)cGa>cTa	p.R136L	ROBO2_ENST00000332191.8_Missense_Mutation_p.R136L|ROBO2_ENST00000487694.3_Missense_Mutation_p.R152L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	136	Ig-like C2-type 2.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.R136L(1)|p.R152L(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GATGACTTCCGACAAAACCCC	0.463																																						uc003dpy.3																			2	Substitution - Missense(2)		lung(2)	lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(406-408)CGA>CTA		roundabout, axon guidance receptor, homolog 2							126.0	121.0	122.0					3																	77526583		1854	4095	5949	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77526583G>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.407G>T	3.37:g.77526583G>T	ENSP00000417164:p.Arg136Leu					ROBO2_uc003dpz.2_Missense_Mutation_p.R136L|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.R136L	p.R136L	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	3	1050	+			136			Ig-like C2-type 2.|Extracellular (Potential).		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.407G>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168888	0.94768	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.36340	1.26;1.26;1.26	5.75	5.75	0.90469	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.000000	0.40554	U	0.001069	T	0.48677	0.1513	N	0.17901	0.54	0.39017	D	0.959665	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.998	T	0.50136	-0.8863	9	0.54805	T	0.06	.	19.9382	0.97149	0.0:0.0:1.0:0.0	.	152;136;136	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	L	152;152;152;136;136	ENSP00000417335:R152L;ENSP00000417164:R136L;ENSP00000327536:R136L	ENSP00000327536:R136L	R	+	2	0	ROBO2	77609273	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.869000	0.99810	2.720000	0.93068	0.563000	0.77884	CGA		PASS	0.463	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		80	192	80	192	---	---	---	---
GPR128	84873	broad.mit.edu	37	3	100365481	100365481	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr3:100365481G>A	ENST00000273352.3	+	10	1447	c.1179G>A	c.(1177-1179)tgG>tgA	p.W393*	GPR128_ENST00000475887.1_Nonsense_Mutation_p.W98*|SNORA31_ENST00000517180.1_RNA	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	393	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.W393*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CGAAGGACTGGGACACATATG	0.388																																					Pancreas(87;185 1975 7223 18722)	uc003duc.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1177-1179)TGG>TGA		G protein-coupled receptor 128 precursor							111.0	111.0	111.0					3																	100365481		2203	4300	6503	SO:0001587	stop_gained	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100365481G>A	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1179G>A	3.37:g.100365481G>A	ENSP00000273352:p.Trp393*					GPR128_uc011bhc.1_Nonsense_Mutation_p.W94*	p.W393*	NM_032787	NP_116176	Q96K78	GP128_HUMAN			10	1447	+			393			GPS.|Extracellular (Potential).		Q14D94|Q86SQ2	Nonsense_Mutation	SNP	ENST00000273352.3	37	c.1179G>A	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	G	36	5.685661	0.96784	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	.	.	.	5.62	4.75	0.60458	.	0.000000	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2359	0.48940	0.0844:0.0:0.9156:0.0	.	.	.	.	X	393;98	.	ENSP00000273352:W393X	W	+	3	0	GPR128	101848171	1.000000	0.71417	0.997000	0.53966	0.220000	0.24768	4.720000	0.61944	1.360000	0.45960	0.655000	0.94253	TGG		PASS	0.388	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			20	194	20	194	---	---	---	---
CBLB	868	broad.mit.edu	37	3	105495385	105495385	+	Splice_Site	SNP	G	G	A	rs369966206		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr3:105495385G>A	ENST00000264122.4	-	4	742	c.421C>T	c.(421-423)Cga>Tga	p.R141*	CBLB_ENST00000405772.1_Splice_Site_p.R141*|CBLB_ENST00000403724.1_Splice_Site_p.R141*|CBLB_ENST00000394027.3_Splice_Site_p.R163*|CBLB_ENST00000545639.1_Intron	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	141	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R141*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GTGAGATTTCGTCTGTAGGCA	0.348			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	uc003dwc.2				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		1	Substitution - Nonsense(1)		lung(1)	lung(4)|ovary(3)|breast(1)|skin(1)	9						c.(421-423)CGA>TGA		Cas-Br-M (murine) ecotropic retroviral		G	stop/ARG	0,4406		0,0,2203	103.0	100.0	101.0		421	3.9	0.8	3		101	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained-near-splice	CBLB	NM_170662.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		141/983	105495385	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105495385G>A	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.420-1C>T	3.37:g.105495385G>A						CBLB_uc011bhi.1_Nonsense_Mutation_p.R163*|CBLB_uc003dwd.1_Nonsense_Mutation_p.R141*|CBLB_uc003dwe.1_Nonsense_Mutation_p.R141*|CBLB_uc011bhj.1_Intron	p.R141*	NM_170662	NP_733762	Q13191	CBLB_HUMAN			4	743	-			141			Cbl-PTB.|4H.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Nonsense_Mutation	SNP	ENST00000264122.4	37	c.421C>T	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	G	39	7.302140	0.98196	0.0	1.16E-4	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	.	.	.	5.79	3.86	0.44501	.	0.057808	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.1062	9.6351	0.39802	0.0697:0.0:0.6249:0.3054	.	.	.	.	X	141;163;141;141	.	ENSP00000264122:R141X	R	-	1	2	CBLB	106978075	1.000000	0.71417	0.802000	0.32245	0.896000	0.52359	2.245000	0.43133	0.728000	0.32382	0.557000	0.71058	CGA		PASS	0.348	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662	Nonsense_Mutation	47	206	47	206	---	---	---	---
TMPRSS7	344805	broad.mit.edu	37	3	111780770	111780770	+	Splice_Site	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr3:111780770C>T	ENST00000452346.2	+	11	1450	c.1447C>T	c.(1447-1449)Ccc>Tcc	p.P483S	TMPRSS7_ENST00000419127.1_Splice_Site_p.P357S			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	483	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.P212S(1)|p.P357S(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CATCAGTCAACGTAAGCCTAG	0.408																																						uc010hqb.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)	2						c.(1069-1071)CCC>TCC		transmembrane protease, serine 7							102.0	98.0	100.0					3																	111780770		1888	4112	6000	SO:0001630	splice_region_variant	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111780770C>T	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1447+1C>T	3.37:g.111780770C>T						TMPRSS7_uc011bhr.1_Missense_Mutation_p.P212S	p.P357S	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN			9	1239	+			483			LDL-receptor class A 1.|Extracellular (Potential).		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37	c.1069C>T		.	.	.	.	.	.	.	.	.	.	C	21.1	4.097634	0.76870	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	D;D	0.95205	-3.64;-3.64	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.95433	0.8517	L	0.33245	0.995	0.50313	D	0.999865	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95748	0.8789	10	0.62326	D	0.03	.	16.5651	0.84577	0.0:1.0:0.0:0.0	.	483;357	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	S	483;471;457;357	ENSP00000398236:P483S;ENSP00000411645:P357S	ENSP00000411645:P357S	P	+	1	0	TMPRSS7	113263460	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	5.365000	0.66116	2.646000	0.89796	0.557000	0.71058	CCC		PASS	0.408	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599	Missense_Mutation	30	154	30	154	---	---	---	---
CFAP44	55779	broad.mit.edu	37	3	113098309	113098309	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr3:113098309C>A	ENST00000295868.2	-	17	2304	c.2142G>T	c.(2140-2142)atG>atT	p.M714I	WDR52_ENST00000393845.2_Missense_Mutation_p.M714I|WDR52_ENST00000475568.1_5'Flank	NM_018338.3	NP_060808.2												p.M714I(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CATCTTCTCCCATCTCTGCTG	0.408																																						uc003eae.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2140-2142)ATG>ATT		WD repeat domain 52 isoform 2							129.0	126.0	127.0					3																	113098309		2203	4300	6503	SO:0001583	missense	55779							g.chr3:113098309C>A																												ENST00000295868.2:c.2142G>T	3.37:g.113098309C>A	ENSP00000295868:p.Met714Ile						p.M714I	NM_018338	NP_060808	Q96MT7	WDR52_HUMAN			17	2188	-			714			Glu-rich.			Missense_Mutation	SNP	ENST00000295868.2	37	c.2142G>T	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	C	2.576	-0.298449	0.05532	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.40225	2.96;1.04	5.42	3.5	0.40072	WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.34193	0.0889	L	0.45581	1.43	0.32299	N	0.565336	B	0.09022	0.002	B	0.04013	0.001	T	0.34551	-0.9824	9	0.31617	T	0.26	.	9.1311	0.36846	0.0:0.7682:0.1438:0.088	.	714	Q96MT7	WDR52_HUMAN	I	714	ENSP00000377428:M714I;ENSP00000295868:M714I	ENSP00000295868:M714I	M	-	3	0	WDR52	114580999	0.000000	0.05858	0.254000	0.24359	0.264000	0.26372	0.054000	0.14205	0.735000	0.32537	0.563000	0.77884	ATG		PASS	0.408	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			33	352	33	352	---	---	---	---
TMEM39A	55254	broad.mit.edu	37	3	119150879	119150879	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr3:119150879T>A	ENST00000319172.5	-	9	1836	c.1416A>T	c.(1414-1416)ttA>ttT	p.L472F		NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	472						integral component of membrane (GO:0016021)		p.L472F(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		ATGCCCTGCCTAATACTATTC	0.433																																						uc003eck.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1414-1416)TTA>TTT		transmembrane protein 39A							74.0	70.0	71.0					3																	119150879		2203	4300	6503	SO:0001583	missense	55254					integral to membrane		g.chr3:119150879T>A	BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.1416A>T	3.37:g.119150879T>A	ENSP00000326063:p.Leu472Phe					TMEM39A_uc003ecl.1_Missense_Mutation_p.L320F	p.L472F	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN		GBM - Glioblastoma multiforme(114;0.244)	9	1779	-			472					D3DN80|Q53FN4|Q53GI1|Q6PKB5	Missense_Mutation	SNP	ENST00000319172.5	37	c.1416A>T	CCDS2987.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.334407	0.81801	.	.	ENSG00000176142	ENST00000319172	T	0.54071	0.59	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000001	T	0.68851	0.3046	M	0.71036	2.16	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.71925	-0.4445	10	0.72032	D	0.01	-8.6606	9.6199	0.39714	0.0:0.0764:0.0:0.9236	.	472	Q9NV64	TM39A_HUMAN	F	472	ENSP00000326063:L472F	ENSP00000326063:L472F	L	-	3	2	TMEM39A	120633569	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.422000	0.52749	2.371000	0.80710	0.533000	0.62120	TTA		PASS	0.433	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3	NM_018266		19	91	19	91	---	---	---	---
RAB7A	7879	broad.mit.edu	37	3	128526399	128526399	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr3:128526399G>A	ENST00000265062.3	+	5	659	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	RAB7A_ENST00000482525.1_Missense_Mutation_p.R91Q|RAB7A_ENST00000485280.1_Intron	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family	138					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|bone resorption (GO:0045453)|cell death (GO:0008219)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|epidermal growth factor catabolic process (GO:0007174)|GTP catabolic process (GO:0006184)|phagosome acidification (GO:0090383)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein targeting to lysosome (GO:0006622)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	alveolar lamellar body (GO:0097208)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R138Q(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		GCCACAAAGCGGGCACAGGCC	0.567																																						uc003eks.1																			1	Substitution - Missense(1)		lung(1)		0						c.(412-414)CGG>CAG		RAB7, member RAS oncogene family							136.0	129.0	132.0					3																	128526399		2203	4300	6503	SO:0001583	missense	7879				endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction	Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle	GDP binding|GTP binding|GTPase activity|protein binding	g.chr3:128526399G>A	X93499	CCDS3052.1	3q21	2014-09-17	2007-01-15	2007-01-15	ENSG00000075785	ENSG00000075785		"""RAB, member RAS oncogene"""	9788	protein-coding gene	gene with protein product		602298	"""RAB7, member RAS oncogene family"""	RAB7		9126495, 9428630	Standard	NM_004637		Approved		uc003eks.1	P51149	OTTHUMG00000159812	ENST00000265062.3:c.413G>A	3.37:g.128526399G>A	ENSP00000265062:p.Arg138Gln					RAB7A_uc010hsv.1_Missense_Mutation_p.R91Q|RAB7A_uc003ekt.2_Missense_Mutation_p.R114Q	p.R138Q	NM_004637	NP_004628	P51149	RAB7A_HUMAN		GBM - Glioblastoma multiforme(114;0.231)	5	645	+			138					A8K3V6|Q9NWJ0|Q9UPB0	Missense_Mutation	SNP	ENST00000265062.3	37	c.413G>A	CCDS3052.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998285	0.93227	.	.	ENSG00000075785	ENST00000265062;ENST00000482525;ENST00000464496;ENST00000490093;ENST00000483906	T;T;T;T;T	0.79141	-0.99;-1.24;-0.99;-1.24;-1.24	5.07	4.2	0.49525	Small GTP-binding protein domain (1);	.	.	.	.	T	0.51346	0.1669	N	0.01424	-0.875	0.80722	D	1	B;B	0.25809	0.135;0.133	B;B	0.15052	0.012;0.008	T	0.51276	-0.8726	9	0.30078	T	0.28	-11.1752	14.1122	0.65129	0.0727:0.0:0.9273:0.0	.	91;138	C9J8S3;P51149	.;RAB7A_HUMAN	Q	138;91;138;97;65	ENSP00000265062:R138Q;ENSP00000417668:R91Q;ENSP00000417978:R138Q;ENSP00000418955:R97Q;ENSP00000417155:R65Q	ENSP00000265062:R138Q	R	+	2	0	RAB7A	130009089	1.000000	0.71417	0.997000	0.53966	0.944000	0.59088	8.735000	0.91549	1.497000	0.48584	-0.150000	0.13652	CGG		PASS	0.567	RAB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357479.1			5	216	5	216	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130290127	130290127	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr3:130290127T>C	ENST00000358511.6	+	6	2898	c.2867T>C	c.(2866-2868)cTg>cCg	p.L956P	COL6A6_ENST00000453409.2_Missense_Mutation_p.L956P	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	956	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.L956P(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCCGTGGAGCTGTTAGCCATG	0.507																																						uc010htl.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(2866-2868)CTG>CCG		collagen type VI alpha 6 precursor							56.0	55.0	55.0					3																	130290127		1982	4169	6151	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130290127T>C	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2867T>C	3.37:g.130290127T>C	ENSP00000351310:p.Leu956Pro						p.L956P	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			6	2898	+			956			VWFA 5.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.2867T>C	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	T	19.77	3.890226	0.72524	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.86297	-2.1;-2.1	4.82	4.82	0.62117	von Willebrand factor, type A (3);	0.000000	0.44483	D	0.000441	D	0.95284	0.8470	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96589	0.9436	10	0.87932	D	0	.	14.3361	0.66592	0.0:0.0:0.0:1.0	.	956	A6NMZ7	CO6A6_HUMAN	P	956	ENSP00000351310:L956P;ENSP00000399236:L956P	ENSP00000351310:L956P	L	+	2	0	COL6A6	131772817	1.000000	0.71417	0.996000	0.52242	0.828000	0.46876	7.455000	0.80726	1.946000	0.56461	0.459000	0.35465	CTG		PASS	0.507	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		4	132	4	132	---	---	---	---
CPNE4	131034	broad.mit.edu	37	3	131261561	131261561	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr3:131261561G>T	ENST00000512055.1	-	19	3505	c.1379C>A	c.(1378-1380)gCc>gAc	p.A460D	CPNE4_ENST00000511604.1_Missense_Mutation_p.A460D|CPNE4_ENST00000502818.1_Missense_Mutation_p.A478D|CPNE4_ENST00000512332.1_Missense_Mutation_p.A478D|CPNE4_ENST00000429747.1_Missense_Mutation_p.A460D			Q96A23	CPNE4_HUMAN	copine IV	460	VWFA.					extracellular vesicular exosome (GO:0070062)		p.A460D(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						GAGGTGGGAGGCATGGACAAT	0.547																																						uc003eok.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1378-1380)GCC>GAC		copine IV							146.0	124.0	132.0					3																	131261561		2203	4300	6503	SO:0001583	missense	131034							g.chr3:131261561G>T	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1379C>A	3.37:g.131261561G>T	ENSP00000421705:p.Ala460Asp					CPNE4_uc011blq.1_Missense_Mutation_p.A478D|CPNE4_uc003eol.2_Missense_Mutation_p.A478D|CPNE4_uc003eom.2_Missense_Mutation_p.A460D|CPNE4_uc003eoj.2_Missense_Mutation_p.A11D	p.A460D	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN			15	1814	-			460			VWFA.		D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	c.1379C>A	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098813	0.94197	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	5.54	5.54	0.83059	von Willebrand factor, type A (1);Copine (1);	0.000000	0.85682	D	0.000000	T	0.76321	0.3971	H	0.97852	4.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.85547	0.1219	10	0.87932	D	0	-23.2922	19.563	0.95380	0.0:0.0:1.0:0.0	.	478;460	Q96A23-2;Q96A23	.;CPNE4_HUMAN	D	460;460;478;460;478	ENSP00000421705:A460D;ENSP00000411904:A460D;ENSP00000424853:A478D;ENSP00000423811:A460D;ENSP00000421646:A478D	ENSP00000411904:A460D	A	-	2	0	CPNE4	132744251	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.865000	0.99609	2.619000	0.88677	0.650000	0.86243	GCC		PASS	0.547	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		65	96	65	96	---	---	---	---
PRR23B	389151	broad.mit.edu	37	3	138739142	138739142	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr3:138739142C>A	ENST00000329447.5	-	1	626	c.362G>T	c.(361-363)gGg>gTg	p.G121V	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	121								p.G121V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACTTCCAGCCCGGCAGACGA	0.637																																						uc003esy.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(361-363)GGG>GTG		proline rich 23B							50.0	52.0	51.0					3																	138739142		2203	4300	6503	SO:0001583	missense	389151							g.chr3:138739142C>A	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.362G>T	3.37:g.138739142C>A	ENSP00000328768:p.Gly121Val						p.G121V	NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN			1	627	-			121					B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	c.362G>T	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	C	6.707	0.499209	0.12762	.	.	ENSG00000184814	ENST00000329447	.	.	.	2.69	0.854	0.19007	.	0.671682	0.13098	N	0.413983	T	0.30541	0.0768	L	0.50333	1.59	0.09310	N	1	D	0.55385	0.971	P	0.48598	0.583	T	0.15150	-1.0447	9	0.14252	T	0.57	.	3.3352	0.07098	0.2529:0.6029:0.0:0.1442	.	121	Q6ZRT6	PR23B_HUMAN	V	121	.	ENSP00000328768:G121V	G	-	2	0	PRR23B	140221832	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.204000	0.09425	0.210000	0.20664	-0.823000	0.03104	GGG		PASS	0.637	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		39	57	39	57	---	---	---	---
TRIM42	287015	broad.mit.edu	37	3	140401761	140401761	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr3:140401761C>A	ENST00000286349.3	+	2	990	c.799C>A	c.(799-801)Cac>Aac	p.H267N		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	267						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.H267N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CAAGGCCTTCCACTCGGATGT	0.607																																						uc003eto.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						c.(799-801)CAC>AAC		tripartite motif-containing 42							116.0	103.0	107.0					3																	140401761		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140401761C>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.799C>A	3.37:g.140401761C>A	ENSP00000286349:p.His267Asn						p.H267N	NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN			2	990	+			267			B box-type 1.		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.799C>A	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999555	0.74818	.	.	ENSG00000155890	ENST00000286349	T	0.47177	0.85	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000005	T	0.65770	0.2723	M	0.67700	2.07	0.36752	D	0.882826	D	0.63880	0.993	D	0.68483	0.958	T	0.73113	-0.4085	10	0.66056	D	0.02	-20.8164	14.6835	0.69035	0.0:1.0:0.0:0.0	.	267	Q8IWZ5	TRI42_HUMAN	N	267	ENSP00000286349:H267N	ENSP00000286349:H267N	H	+	1	0	TRIM42	141884451	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.850000	0.62889	2.546000	0.85860	0.561000	0.74099	CAC		PASS	0.607	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		37	55	37	55	---	---	---	---
TRIM42	287015	broad.mit.edu	37	3	140406742	140406742	+	Silent	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr3:140406742G>A	ENST00000286349.3	+	3	1409	c.1218G>A	c.(1216-1218)caG>caA	p.Q406Q		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	406						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Q406Q(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGTCCAGGCAGAAGGAAATTG	0.443																																						uc003eto.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						c.(1216-1218)CAG>CAA		tripartite motif-containing 42							101.0	98.0	99.0					3																	140406742		2203	4300	6503	SO:0001819	synonymous_variant	287015					intracellular	zinc ion binding	g.chr3:140406742G>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1218G>A	3.37:g.140406742G>A							p.Q406Q	NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN			3	1409	+			406			Potential.		A1L4B4|Q8N832|Q8NDL3	Silent	SNP	ENST00000286349.3	37	c.1218G>A	CCDS3113.1																																																																																				PASS	0.443	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		4	152	4	152	---	---	---	---
U2SURP	23350	broad.mit.edu	37	3	142775291	142775291	+	Nonstop_Mutation	SNP	G	G	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr3:142775291G>C	ENST00000473835.2	+	28	3179	c.3089G>C	c.(3088-3090)tGa>tCa	p.*1030S	U2SURP_ENST00000397933.2_Nonstop_Mutation_p.*621S|U2SURP_ENST00000493598.2_Nonstop_Mutation_p.*1029S	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	0					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.*1030S(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						AACAAACACTGACGTAAATTT	0.358																																						uc003evh.1																			1	Nonstop extension(1)		lung(1)		0						c.(3088-3090)TGA>TCA		U2-associated SR140 protein							55.0	56.0	56.0					3																	142775291		1842	4083	5925	SO:0001578	stop_lost	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142775291G>C	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.3089G>C	3.37:g.142775291G>C	ENSP00000418563:p.*1030Serext*73					SR140_uc003evi.1_Nonstop_Mutation_p.*621S|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Nonstop_Mutation_p.*1029S	p.*1030S	NM_001080415	NP_001073884	O15042	SR140_HUMAN			28	3188	+			1030					A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Nonstop_Mutation	SNP	ENST00000473835.2	37	c.3089G>C	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710009	0.68730	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000397933;ENST00000493598	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6736	0.95921	0.0:0.0:1.0:0.0	.	.	.	.	S	1030;1030;621;1029	.	.	X	+	2	2	U2SURP	144257981	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	9.476000	0.97823	2.660000	0.90430	0.650000	0.86243	TGA		PASS	0.358	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		28	40	28	40	---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147128309	147128310	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr3:147128309_147128310CC>AA	ENST00000282928.4	+	1	1139_1140	c.410_411CC>AA	c.(409-411)gCC>gAA	p.A137E		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	137					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|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.A137E(1)|p.A137D(1)|p.A137A(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CACACGGACGCCGCGGGCCACC	0.718																																						uc003ewe.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)|central_nervous_system(1)	2						c.(409-411)GCC>GAC|c.(409-411)GCC>GCA		zinc finger protein of the cerebellum 1																																				SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128309C>A|g.chr3:147128310C>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	Exception_encountered	3.37:g.147128309_147128310delinsAA	ENSP00000282928:p.Ala137Glu						p.A137D|p.A137A	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	1129|1130	+			137					Q2M3N1	Missense_Mutation|Silent	SNP	ENST00000282928.4	37	c.410C>A|c.411C>A	CCDS3136.1																																																																																				PASS	0.718	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		12	16|17	12	16	---	---	---	---
TIPARP	25976	broad.mit.edu	37	3	156395782	156395782	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr3:156395782C>G	ENST00000461166.1	+	2	884	c.296C>G	c.(295-297)tCa>tGa	p.S99*	TIPARP_ENST00000295924.7_Nonsense_Mutation_p.S99*|TIPARP_ENST00000486483.1_Nonsense_Mutation_p.S99*|TIPARP_ENST00000542783.1_Nonsense_Mutation_p.S99*	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	99					androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.S99*(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ATCAATTCATCATGCCCACCA	0.438																																					Ovarian(171;276 1987 3319 6837 11197)	uc003fav.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)	2						c.(295-297)TCA>TGA		TCDD-inducible poly(ADP-ribose) polymerase							109.0	108.0	108.0					3																	156395782		2203	4300	6503	SO:0001587	stop_gained	25976						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr3:156395782C>G	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.296C>G	3.37:g.156395782C>G	ENSP00000420612:p.Ser99*					LOC100287227_uc011boq.1_5'Flank|TIPARP_uc003faw.2_Nonsense_Mutation_p.S99*	p.S99*	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		2	544	+			99					D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Nonsense_Mutation	SNP	ENST00000461166.1	37	c.296C>G	CCDS3177.1	.	.	.	.	.	.	.	.	.	.	C	40	8.148927	0.98678	.	.	ENSG00000163659	ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783	.	.	.	5.11	5.11	0.69529	.	0.920416	0.09296	N	0.821643	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	13.1667	0.59575	0.1597:0.8403:0.0:0.0	.	.	.	.	X	99	.	ENSP00000295924:S99X	S	+	2	0	TIPARP	157878476	0.017000	0.18338	0.086000	0.20670	0.943000	0.58893	2.608000	0.46308	2.390000	0.81377	0.563000	0.77884	TCA		PASS	0.438	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		61	295	61	295	---	---	---	---
MCF2L2	23101	broad.mit.edu	37	3	182948762	182948762	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr3:182948762T>C	ENST00000328913.3	-	16	2203	c.1906A>G	c.(1906-1908)Aaa>Gaa	p.K636E	MCF2L2_ENST00000447025.2_Missense_Mutation_p.K636E|MCF2L2_ENST00000473233.1_Missense_Mutation_p.K636E	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	636	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K636E(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTAATCTCTTTTATGTAAATC	0.403																																						uc003fli.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.(1906-1908)AAA>GAA		Rho family guanine-nucleotide exchange factor							154.0	143.0	147.0					3																	182948762		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182948762T>C	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1906A>G	3.37:g.182948762T>C	ENSP00000328118:p.Lys636Glu					MCF2L2_uc003flj.1_Missense_Mutation_p.K636E|MCF2L2_uc011bqr.1_RNA	p.K636E	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		16	1996	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		636			DH.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.1906A>G	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	T	9.029	0.986761	0.18889	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025	T;T;T	0.62639	0.01;0.01;1.55	5.25	4.12	0.48240	Dbl homology (DH) domain (5);	0.063913	0.64402	D	0.000010	T	0.26304	0.0642	N	0.01146	-0.985	0.80722	D	1	B;P	0.36616	0.007;0.561	B;B	0.39660	0.004;0.306	T	0.47724	-0.9095	10	0.02654	T	1	.	4.708	0.12858	0.0:0.1672:0.0:0.8328	.	636;636	Q86YR7-2;Q86YR7	.;MF2L2_HUMAN	E	636	ENSP00000328118:K636E;ENSP00000420070:K636E;ENSP00000388190:K636E	ENSP00000328118:K636E	K	-	1	0	MCF2L2	184431456	1.000000	0.71417	0.983000	0.44433	0.775000	0.43874	2.044000	0.41241	1.971000	0.57363	0.482000	0.46254	AAA		PASS	0.403	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		41	62	41	62	---	---	---	---
EHHADH	1962	broad.mit.edu	37	3	184953216	184953216	+	Silent	SNP	T	T	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr3:184953216T>C	ENST00000231887.3	-	3	288	c.213A>G	c.(211-213)acA>acG	p.T71T	EHHADH_ENST00000475987.1_5'UTR|EHHADH_ENST00000456310.1_5'UTR	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	71	Enoyl-CoA hydratase / isomerase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)	p.T71T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			TAAGGCCAAATGTCCTAGGAG	0.463																																						uc003fpf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(211-213)ACA>ACG		enoyl-Coenzyme A, hydratase/3-hydroxyacyl	NADH(DB00157)						56.0	53.0	54.0					3																	184953216		2203	4300	6503	SO:0001819	synonymous_variant	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184953216T>C	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.213A>G	3.37:g.184953216T>C						EHHADH_uc011brs.1_5'UTR	p.T71T	NM_001966	NP_001957	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		3	240	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		71			Enoyl-CoA hydratase / isomerase.		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Silent	SNP	ENST00000231887.3	37	c.213A>G	CCDS33901.1																																																																																				PASS	0.463	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			67	48	67	48	---	---	---	---
TRA2B	6434	broad.mit.edu	37	3	185638958	185638958	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr3:185638958C>A	ENST00000453386.2	-	6	931	c.656G>T	c.(655-657)cGg>cTg	p.R219L	TRA2B_ENST00000382191.4_Missense_Mutation_p.R119L	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	219	Linker.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R219L(1)		breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						ATAGTAATCCCGACGGCGAGA	0.418																																						uc003fpv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(655-657)CGG>CTG		splicing factor, arginine/serine-rich 10							80.0	77.0	78.0					3																	185638958		2203	4300	6503	SO:0001583	missense	6434				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding	g.chr3:185638958C>A	AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"""RNA binding motif (RRM) containing"""	10781	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 156"""	602719	"""splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"""	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.656G>T	3.37:g.185638958C>A	ENSP00000416959:p.Arg219Leu					TRA2B_uc003fpt.2_RNA|TRA2B_uc003fpu.2_RNA|TRA2B_uc010hym.2_Missense_Mutation_p.R119L|TRA2B_uc003fpw.2_Missense_Mutation_p.R219L	p.R219L	NM_004593	NP_004584	P62995	TRA2B_HUMAN			6	932	-			219			Linker.		B4DVK2|D3DNU3|O15449|Q15815|Q64283	Missense_Mutation	SNP	ENST00000453386.2	37	c.656G>T	CCDS33905.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.37|14.37	2.516254|2.516254	0.44763|0.44763	.|.	.|.	ENSG00000136527|ENSG00000136527	ENST00000259043;ENST00000414862|ENST00000453386;ENST00000382191	.|T;T	.|0.74632	.|1.86;-0.86	6.07|6.07	5.2|5.2	0.72013|0.72013	.|.	.|0.516815	.|0.21200	.|N	.|0.078498	T|T	0.63698|0.63698	0.2533|0.2533	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|B;B	.|0.11235	.|0.002;0.004	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.57906|0.57906	-0.7730|-0.7730	5|10	.|0.11182	.|T	.|0.66	-2.4619|-2.4619	14.5301|14.5301	0.67920|0.67920	0.0:0.9287:0.0:0.0713|0.0:0.9287:0.0:0.0713	.|.	.|219;219	.|B2RDQ3;P62995	.|.;TRA2B_HUMAN	W|L	78;39|219;119	.|ENSP00000416959:R219L;ENSP00000371626:R119L	.|ENSP00000371626:R119L	G|R	-|-	1|2	0|0	TRA2B|TRA2B	187121652|187121652	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.951000|0.951000	0.60555|0.60555	5.487000|5.487000	0.66863|0.66863	1.578000|1.578000	0.49821|0.49821	0.655000|0.655000	0.94253|0.94253	GGG|CGG		PASS	0.418	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344984.1	NM_004593		42	60	42	60	---	---	---	---
GP5	2814	broad.mit.edu	37	3	194118141	194118141	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr3:194118141C>A	ENST00000401815.1	-	1	942	c.871G>T	c.(871-873)Ggc>Tgc	p.G291C	GP5_ENST00000323007.3_Missense_Mutation_p.G291C			P40197	GPV_HUMAN	glycoprotein V (platelet)	291					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.G291C(2)		breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TCCTGCAGGCCCCCCATCTCC	0.652																																						uc003ftv.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|breast(1)	3						c.(871-873)GGC>TGC		glycoprotein V (platelet) precursor							12.0	16.0	15.0					3																	194118141		2147	4249	6396	SO:0001583	missense	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194118141C>A	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.871G>T	3.37:g.194118141C>A	ENSP00000383931:p.Gly291Cys						p.G291C	NM_004488	NP_004479	P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	2	902	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	291			Extracellular (Potential).|LRR 10.		D1MER9	Missense_Mutation	SNP	ENST00000401815.1	37	c.871G>T	CCDS3307.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399670	0.42512	.	.	ENSG00000178732	ENST00000401815;ENST00000323007	T;T	0.25250	1.81;1.81	3.95	1.09	0.20402	.	0.425649	0.17438	N	0.174220	T	0.34106	0.0886	L	0.45352	1.415	0.09310	N	1	D	0.89917	1.0	D	0.73380	0.98	T	0.06789	-1.0807	10	0.56958	D	0.05	.	4.1759	0.10351	0.0:0.4709:0.1815:0.3476	.	291	P40197	GPV_HUMAN	C	291	ENSP00000383931:G291C;ENSP00000319286:G291C	ENSP00000319286:G291C	G	-	1	0	GP5	195599430	0.000000	0.05858	0.097000	0.21041	0.803000	0.45373	-0.002000	0.12924	0.389000	0.25086	0.455000	0.32223	GGC		PASS	0.652	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		7	67	7	67	---	---	---	---
ATP13A3	79572	broad.mit.edu	37	3	194151031	194151031	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr3:194151031T>C	ENST00000439040.1	-	25	3429	c.2638A>G	c.(2638-2640)Atg>Gtg	p.M880V	ATP13A3_ENST00000256031.4_Missense_Mutation_p.M880V			Q9H7F0	AT133_HUMAN	ATPase type 13A3	880						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.M880V(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TCACCACACATCCCAACAAAA	0.264																																						uc003fty.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2638-2640)ATG>GTG		ATPase type 13A3							71.0	68.0	69.0					3																	194151031		1878	4112	5990	SO:0001583	missense	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194151031T>C	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.2638A>G	3.37:g.194151031T>C	ENSP00000416508:p.Met880Val					ATP13A3_uc003ftz.1_Missense_Mutation_p.M586V	p.M880V	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	24	3040	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	880					Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.2638A>G	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.085245	0.76642	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	T;T	0.68181	-0.31;-0.31	5.6	5.6	0.85130	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.77579	0.4151	L	0.52126	1.63	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	T	0.79867	-0.1622	10	0.87932	D	0	-0.3624	15.8035	0.78473	0.0:0.0:0.0:1.0	.	880	Q9H7F0	AT133_HUMAN	V	880;880;618	ENSP00000416508:M880V;ENSP00000256031:M880V	ENSP00000256031:M880V	M	-	1	0	ATP13A3	195632320	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	8.040000	0.89188	2.130000	0.65690	0.482000	0.46254	ATG		PASS	0.264	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		7	74	7	74	---	---	---	---
PACRGL	133015	broad.mit.edu	37	4	20715094	20715094	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr4:20715094G>T	ENST00000503585.1	+	7	932	c.541G>T	c.(541-543)Gct>Tct	p.A181S	PACRGL_ENST00000444671.2_Missense_Mutation_p.A83S|PACRGL_ENST00000507634.1_Missense_Mutation_p.A181S|PACRGL_ENST00000513459.1_Missense_Mutation_p.A128S|PACRGL_ENST00000538990.1_Missense_Mutation_p.A83S|PACRGL_ENST00000295290.8_Missense_Mutation_p.A181S|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000360916.5_Missense_Mutation_p.A181S|PACRGL_ENST00000502374.1_Missense_Mutation_p.A128S	NM_001258345.1	NP_001245274.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	181								p.A181S(1)		endometrium(2)|lung(7)|prostate(1)	10						AGGATTGAATGCTCTAGTTCA	0.423																																						uc010iek.2																			1	Substitution - Missense(1)		lung(1)		0						c.(541-543)GCT>TCT		PARK2 co-regulated-like isoform 1							273.0	221.0	239.0					4																	20715094		2203	4300	6503	SO:0001583	missense	133015						binding	g.chr4:20715094G>T	AK098692	CCDS3427.1, CCDS47034.1, CCDS58895.1, CCDS58896.1	4p15.31	2008-10-02	2008-10-02	2008-10-02	ENSG00000163138	ENSG00000163138			28442	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 28"""	C4orf28		12477932	Standard	NM_145048		Approved	MGC29898	uc010iek.3	Q8N7B6	OTTHUMG00000128550	ENST00000503585.1:c.541G>T	4.37:g.20715094G>T	ENSP00000423881:p.Ala181Ser					PACRGL_uc003gpu.2_RNA|PACRGL_uc010iei.1_Missense_Mutation_p.A229S|PACRGL_uc003gpz.2_Missense_Mutation_p.A181S|PACRGL_uc011bxm.1_Missense_Mutation_p.A128S|PACRGL_uc003gqa.2_Missense_Mutation_p.A83S|PACRGL_uc003gpx.3_RNA|PACRGL_uc003gpv.2_Missense_Mutation_p.A181S|PACRGL_uc003gpw.2_RNA|PACRGL_uc010iej.1_RNA|PACRGL_uc011bxn.1_Missense_Mutation_p.A83S|PACRGL_uc003gpy.2_Missense_Mutation_p.A128S	p.A181S	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN			7	932	+			181					B2RDB9|B4DFF8|B4DMN7|Q8TBA8	Missense_Mutation	SNP	ENST00000503585.1	37	c.541G>T	CCDS58895.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321617	0.81580	.	.	ENSG00000163138	ENST00000510051;ENST00000503585;ENST00000360916;ENST00000295290;ENST00000444671;ENST00000513861;ENST00000502374;ENST00000538990;ENST00000513590;ENST00000514292;ENST00000507634;ENST00000513459;ENST00000511089	T;T;T;T;T;T;T;T;T;T	0.69040	3.39;-0.37;3.39;3.39;1.2;3.39;3.39;3.39;3.39;3.39	5.64	5.64	0.86602	Armadillo-like helical (1);Armadillo-type fold (1);	0.074546	0.56097	D	0.000031	T	0.77170	0.4091	M	0.64404	1.975	0.35204	D	0.774545	P;P;P;D;D;P	0.61697	0.875;0.619;0.854;0.99;0.977;0.698	P;B;P;P;P;B	0.57371	0.683;0.331;0.609;0.819;0.766;0.222	T	0.79422	-0.1810	10	0.33940	T	0.23	-18.8608	19.6973	0.96031	0.0:0.0:1.0:0.0	.	128;181;229;83;128;181	B4DFF8;Q8N7B6;D6R9N9;B4DMN7;D6RGK2;Q8N7B6-2	.;PACRL_HUMAN;.;.;.;.	S	229;181;181;181;83;128;128;83;181;83;181;128;128	ENSP00000423499:A229S;ENSP00000423881:A181S;ENSP00000354171:A181S;ENSP00000295290:A181S;ENSP00000422394:A128S;ENSP00000425461:A128S;ENSP00000422425:A181S;ENSP00000425938:A181S;ENSP00000426286:A128S;ENSP00000421687:A128S	ENSP00000295290:A181S	A	+	1	0	PACRGL	20324192	1.000000	0.71417	0.829000	0.32907	0.873000	0.50193	7.083000	0.76859	2.674000	0.91012	0.655000	0.94253	GCT		PASS	0.423	PACRGL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360321.2	NM_145048		53	149	53	149	---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48533293	48533293	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr4:48533293A>C	ENST00000503238.1	-	47	6782	c.6783T>G	c.(6781-6783)gaT>gaG	p.D2261E	FRYL_ENST00000537810.1_Missense_Mutation_p.D2261E|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.D2261E|FRYL_ENST00000507873.2_5'UTR			O94915	FRYL_HUMAN	FRY-like	2261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.D2261E(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCTTGGGGATATCACTGGGTA	0.408																																						uc003gyh.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(6781-6783)GAT>GAG		furry-like							85.0	84.0	84.0					4																	48533293		1858	4091	5949	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48533293A>C	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.6783T>G	4.37:g.48533293A>C	ENSP00000426064:p.Asp2261Glu					FRYL_uc003gyg.1_Missense_Mutation_p.D957E|FRYL_uc003gyi.1_Missense_Mutation_p.D1149E|FRYL_uc003gyj.1_Missense_Mutation_p.D556E	p.D2261E	NM_015030	NP_055845	O94915	FRYL_HUMAN			50	7388	-			2261					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.6783T>G	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.58|13.58	2.280395|2.280395	0.40294|0.40294	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810|ENST00000514617	T;T;T|.	0.21361|.	2.01;2.01;2.01|.	5.25|5.25	-2.69|-2.69	0.06022|0.06022	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.31009|0.31009	0.0783|0.0783	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B;B|.	0.14012|.	0.009;0.005;0.002|.	B;B;B|.	0.14578|.	0.011;0.007;0.009|.	T|T	0.07693|0.07693	-1.0759|-1.0759	10|5	0.11485|.	T|.	0.65|.	.|.	11.3003|11.3003	0.49302|0.49302	0.4791:0.0:0.5209:0.0|0.4791:0.0:0.5209:0.0	.|.	1091;2261;2261|.	Q6ZR29;O94915;F5GX82|.	.;FRYL_HUMAN;.|.	E|D	2261|1131	ENSP00000426064:D2261E;ENSP00000351113:D2261E;ENSP00000441114:D2261E|.	ENSP00000351113:D2261E|.	D|Y	-|-	3|1	2|0	FRYL|FRYL	48228050|48228050	0.997000|0.997000	0.39634|0.39634	0.823000|0.823000	0.32752|0.32752	0.658000|0.658000	0.38924|0.38924	0.562000|0.562000	0.23531|0.23531	-0.467000|-0.467000	0.06932|0.06932	-0.415000|-0.415000	0.06103|0.06103	GAT|TAT		PASS	0.408	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			4	204	4	204	---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48537684	48537684	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr4:48537684T>C	ENST00000503238.1	-	45	6553	c.6554A>G	c.(6553-6555)tAt>tGt	p.Y2185C	FRYL_ENST00000537810.1_Missense_Mutation_p.Y2185C|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.Y2185C|FRYL_ENST00000507873.2_5'UTR			O94915	FRYL_HUMAN	FRY-like	2185					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.Y2185C(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTCTGCAAGATAAGTCACAAG	0.343																																						uc003gyh.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(6553-6555)TAT>TGT		furry-like							65.0	61.0	62.0					4																	48537684		1845	4111	5956	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48537684T>C	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.6554A>G	4.37:g.48537684T>C	ENSP00000426064:p.Tyr2185Cys					FRYL_uc003gyg.1_Missense_Mutation_p.Y881C|FRYL_uc003gyi.1_Missense_Mutation_p.Y1073C|FRYL_uc003gyj.1_Missense_Mutation_p.Y480C	p.Y2185C	NM_015030	NP_055845	O94915	FRYL_HUMAN			48	7159	-			2185					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.6554A>G	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.664742	0.47572	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810	T;T;T	0.31247	1.5;1.5;1.5	5.41	5.41	0.78517	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52789	0.1756	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.55457	-0.8138	10	0.87932	D	0	.	15.738	0.77863	0.0:0.0:0.0:1.0	.	1015;2185;2185	Q6ZR29;O94915;F5GX82	.;FRYL_HUMAN;.	C	2185	ENSP00000426064:Y2185C;ENSP00000351113:Y2185C;ENSP00000441114:Y2185C	ENSP00000351113:Y2185C	Y	-	2	0	FRYL	48232441	1.000000	0.71417	0.974000	0.42286	0.027000	0.11550	7.997000	0.88414	2.171000	0.68590	0.482000	0.46254	TAT		PASS	0.343	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			20	52	20	52	---	---	---	---
CLOCK	9575	broad.mit.edu	37	4	56309861	56309861	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr4:56309861G>A	ENST00000309964.4	-	19	2145	c.1895C>T	c.(1894-1896)tCa>tTa	p.S632L	CLOCK_ENST00000513440.1_Missense_Mutation_p.S632L|CLOCK_ENST00000381322.1_Missense_Mutation_p.S632L	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	632	Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|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)|signal transducer activity (GO:0004871)	p.S632L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TACCTGAGTTGATGTACTCTG	0.413																																						uc003haz.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1894-1896)TCA>TTA		clock							212.0	177.0	189.0					4																	56309861		2203	4300	6503	SO:0001583	missense	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56309861G>A	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.1895C>T	4.37:g.56309861G>A	ENSP00000308741:p.Ser632Leu					CLOCK_uc003hba.1_Missense_Mutation_p.S632L|CLOCK_uc010igu.1_RNA	p.S632L	NM_004898	NP_004889	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		21	2821	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		632					A0AV01|A2I2N9|O14516|Q9UIT8	Missense_Mutation	SNP	ENST00000309964.4	37	c.1895C>T	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463606	0.43736	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	T;T;T	0.04502	3.61;3.61;3.61	5.87	5.87	0.94306	.	0.655743	0.16327	N	0.219278	T	0.05273	0.0140	N	0.14661	0.345	0.45899	D	0.998747	B	0.09022	0.002	B	0.12156	0.007	T	0.53578	-0.8419	10	0.40728	T	0.16	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	632	O15516	CLOCK_HUMAN	L	632	ENSP00000308741:S632L;ENSP00000370723:S632L;ENSP00000426983:S632L	ENSP00000308741:S632L	S	-	2	0	CLOCK	56004618	0.976000	0.34144	0.998000	0.56505	0.573000	0.36030	4.464000	0.60134	2.941000	0.99782	0.655000	0.94253	TCA		PASS	0.413	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		64	605	64	605	---	---	---	---
CLOCK	9575	broad.mit.edu	37	4	56310047	56310047	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr4:56310047G>C	ENST00000309964.4	-	19	1959	c.1709C>G	c.(1708-1710)tCa>tGa	p.S570*	CLOCK_ENST00000513440.1_Nonsense_Mutation_p.S570*|CLOCK_ENST00000381322.1_Nonsense_Mutation_p.S570*	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	570	Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.|Interaction with SIRT1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|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)|signal transducer activity (GO:0004871)	p.S570*(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CCCAGGATTTGATTGTTGCAA	0.323																																						uc003haz.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1708-1710)TCA>TGA		clock							56.0	54.0	54.0					4																	56310047		2203	4300	6503	SO:0001587	stop_gained	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56310047G>C	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.1709C>G	4.37:g.56310047G>C	ENSP00000308741:p.Ser570*					CLOCK_uc003hba.1_Nonsense_Mutation_p.S570*|CLOCK_uc010igu.1_RNA	p.S570*	NM_004898	NP_004889	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		21	2635	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		570					A0AV01|A2I2N9|O14516|Q9UIT8	Nonsense_Mutation	SNP	ENST00000309964.4	37	c.1709C>G	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	G	43	10.200229	0.99358	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	.	.	.	5.77	5.77	0.91146	.	0.740772	0.13763	N	0.364458	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	.	.	.	X	570	.	ENSP00000308741:S570X	S	-	2	0	CLOCK	56004804	1.000000	0.71417	1.000000	0.80357	0.461000	0.32589	5.630000	0.67805	2.885000	0.99019	0.655000	0.94253	TCA		PASS	0.323	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		34	449	34	449	---	---	---	---
AASDH	132949	broad.mit.edu	37	4	57221562	57221562	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr4:57221562C>A	ENST00000205214.6	-	6	1069	c.889G>T	c.(889-891)Gga>Tga	p.G297*	AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000451613.1_Nonsense_Mutation_p.G297*|AASDH_ENST00000602986.1_Nonsense_Mutation_p.G144*|AASDH_ENST00000502617.1_Nonsense_Mutation_p.G297*|AASDH_ENST00000513376.1_Nonsense_Mutation_p.G197*	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	297					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)	p.G297*(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				AGCTGAGATCCAAATCTTCTA	0.353																																						uc003hbn.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)	4						c.(889-891)GGA>TGA		aminoadipate-semialdehyde dehydrogenase							107.0	102.0	104.0					4																	57221562		2203	4300	6503	SO:0001587	stop_gained	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57221562C>A	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.889G>T	4.37:g.57221562C>A	ENSP00000205214:p.Gly297*					AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Nonsense_Mutation_p.G144*|AASDH_uc003hbo.2_Nonsense_Mutation_p.G197*|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Nonsense_Mutation_p.G297*|AASDH_uc003hbp.2_Nonsense_Mutation_p.G297*	p.G297*	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN			6	1042	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	297					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Nonsense_Mutation	SNP	ENST00000205214.6	37	c.889G>T	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	C	37	6.410296	0.97546	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000503808;ENST00000502617	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-19.6778	20.3172	0.98658	0.0:1.0:0.0:0.0	.	.	.	.	X	297;197;297;144;297	.	ENSP00000205214:G297X	G	-	1	0	AASDH	56916319	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	7.062000	0.76706	2.801000	0.96364	0.650000	0.86243	GGA		PASS	0.353	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		50	62	50	62	---	---	---	---
UGT2A3	79799	broad.mit.edu	37	4	69811132	69811132	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr4:69811132C>G	ENST00000251566.4	-	2	786	c.756G>C	c.(754-756)gaG>gaC	p.E252D	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	252					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.E252D(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTAGCCATATCTCAGCTTTTC	0.353																																						uc003hef.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(754-756)GAG>GAC		UDP glucuronosyltransferase 2 family,							103.0	97.0	99.0					4																	69811132		2203	4300	6503	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69811132C>G		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.756G>C	4.37:g.69811132C>G	ENSP00000251566:p.Glu252Asp					UGT2A3_uc010ihp.1_RNA	p.E252D	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN			2	787	-			252			Extracellular (Potential).		Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.756G>C	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.826830	0.00584	.	.	ENSG00000135220	ENST00000251566	T	0.59638	0.25	3.23	-6.47	0.01902	.	0.106565	0.64402	N	0.000007	T	0.19967	0.0480	N	0.08118	0	0.45403	D	0.998384	B	0.17852	0.024	B	0.24974	0.057	T	0.48115	-0.9063	10	0.05351	T	0.99	.	0.1785	0.00121	0.2654:0.1908:0.2702:0.2736	.	252	Q6UWM9	UD2A3_HUMAN	D	252	ENSP00000251566:E252D	ENSP00000251566:E252D	E	-	3	2	UGT2A3	69845721	0.965000	0.33210	0.013000	0.15412	0.590000	0.36582	-0.195000	0.09546	-1.902000	0.01094	-1.342000	0.01247	GAG		PASS	0.353	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		38	43	38	43	---	---	---	---
HELQ	113510	broad.mit.edu	37	4	84342850	84342850	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr4:84342850A>C	ENST00000295488.3	-	15	2977	c.2815T>G	c.(2815-2817)Ttt>Gtt	p.F939V	HELQ_ENST00000510985.1_Missense_Mutation_p.F872V	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	939					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.F939V(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TAAAGAACAAAAGACAGATAT	0.338								Other identified genes with known or suspected DNA repair function																														uc003hom.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(2815-2817)TTT>GTT	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA helicase HEL308							85.0	84.0	84.0					4																	84342850		2203	4300	6503	SO:0001583	missense	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84342850A>C	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.2815T>G	4.37:g.84342850A>C	ENSP00000295488:p.Phe939Val					HELQ_uc010ikb.2_Missense_Mutation_p.F872V|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA	p.F939V	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN			15	2994	-			939					Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	c.2815T>G	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.709191	0.48517	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.72505	-0.66;-0.66	5.04	5.04	0.67666	.	0.056516	0.64402	D	0.000001	T	0.68210	0.2976	M	0.70275	2.135	0.51012	D	0.999905	B;B	0.34372	0.451;0.215	B;B	0.28553	0.07;0.091	T	0.71649	-0.4529	10	0.54805	T	0.06	-50.9182	14.7666	0.69642	1.0:0.0:0.0:0.0	.	872;939	E3W980;Q8TDG4	.;HELQ_HUMAN	V	939;872	ENSP00000295488:F939V;ENSP00000424539:F872V	ENSP00000295488:F939V	F	-	1	0	HELQ	84561874	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.937000	0.48979	1.895000	0.54865	0.482000	0.46254	TTT		PASS	0.338	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		31	46	31	46	---	---	---	---
FAM13A	10144	broad.mit.edu	37	4	89679910	89679910	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr4:89679910C>G	ENST00000264344.5	-	14	1928	c.1721G>C	c.(1720-1722)tGg>tCg	p.W574S	FAM13A_ENST00000395002.2_Missense_Mutation_p.W248S|FAM13A_ENST00000511976.1_Missense_Mutation_p.W160S|FAM13A_ENST00000513837.1_Missense_Mutation_p.W220S|FAM13A_ENST00000508369.1_Missense_Mutation_p.W248S|FAM13A_ENST00000503556.1_Missense_Mutation_p.W234S	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	574					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.W248L(1)|p.W574S(1)|p.W574L(1)|p.W248S(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CCTACCTTCCCAGTTCTTTTC	0.448																																						uc003hse.1																			4	Substitution - Missense(4)		lung(4)	ovary(1)|liver(1)	2						c.(1720-1722)TGG>TCG		family with sequence similarity 13, member A1							104.0	102.0	103.0					4																	89679910		2203	4300	6503	SO:0001583	missense	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89679910C>G	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1721G>C	4.37:g.89679910C>G	ENSP00000264344:p.Trp574Ser					FAM13A_uc003hsa.1_Missense_Mutation_p.W45S|FAM13A_uc003hsb.1_Missense_Mutation_p.W248S|FAM13A_uc003hsd.1_Missense_Mutation_p.W248S|FAM13A_uc003hsc.1_Missense_Mutation_p.W234S|FAM13A_uc011cdq.1_Missense_Mutation_p.W220S|FAM13A_uc003hsf.1_Missense_Mutation_p.W160S|FAM13A_uc003hsg.1_Missense_Mutation_p.W45S|FAM13A_uc010ikr.1_Missense_Mutation_p.W70S	p.W574S	NM_014883	NP_055698	O94988	FA13A_HUMAN			14	1929	-			574					B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	c.1721G>C	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584949	0.65992	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000511976;ENST00000508369;ENST00000513837	T;T;T;T;T;T	0.49139	0.79;2.11;1.43;1.47;1.43;1.44	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.60983	0.2311	L	0.43152	1.355	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.999;0.998;0.998;0.999;0.999;0.999	T	0.49744	-0.8907	10	0.15952	T	0.53	.	19.3137	0.94202	0.0:1.0:0.0:0.0	.	220;253;160;574;248;234;248	O94988-6;E7ENS3;E9PGM7;O94988;O94988-3;O94988-5;O94988-1	.;.;.;FA13A_HUMAN;.;.;.	S	248;574;234;160;248;220	ENSP00000378450:W248S;ENSP00000264344:W574S;ENSP00000427189:W234S;ENSP00000421914:W160S;ENSP00000421562:W248S;ENSP00000423252:W220S	ENSP00000264344:W574S	W	-	2	0	FAM13A	89898933	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	6.387000	0.73191	2.788000	0.95919	0.650000	0.86243	TGG		PASS	0.448	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			47	60	47	60	---	---	---	---
ANK2	287	broad.mit.edu	37	4	113970900	113970900	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr4:113970900G>T	ENST00000357077.4	+	1	69	c.16G>T	c.(16-18)Gca>Tca	p.A6S	RP11-650J17.1_ENST00000508959.1_RNA|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Missense_Mutation_p.A6S|ANK2_ENST00000264366.6_Missense_Mutation_p.A6S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	6					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.A6S(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)		GAACGAAGATGCAGCTCAGAA	0.458																																						uc003ibe.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(16-18)GCA>TCA		ankyrin 2 isoform 1							75.0	79.0	78.0					4																	113970900		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:113970900G>T	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.16G>T	4.37:g.113970900G>T	ENSP00000349588:p.Ala6Ser					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Missense_Mutation_p.A6S|ANK2_uc003ibc.2_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.A6S	p.A6S	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	1	116	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	6					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.16G>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.949009	0.34377	.	.	ENSG00000145362	ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366	T;T;T;T	0.67345	-0.1;-0.19;-0.23;-0.26	5.28	5.28	0.74379	.	0.000000	0.37483	N	0.002073	T	0.45538	0.1347	N	0.03608	-0.345	0.80722	D	1	P;B;P	0.40180	0.58;0.03;0.705	B;B;B	0.41510	0.196;0.031;0.359	T	0.53201	-0.8472	10	0.45353	T	0.12	.	11.2282	0.48897	0.0847:0.0:0.9153:0.0	.	6;6;6	Q01484;Q01484-2;Q01484-4	ANK2_HUMAN;.;.	S	6	ENSP00000424722:A6S;ENSP00000378044:A6S;ENSP00000349588:A6S;ENSP00000264366:A6S	ENSP00000264366:A6S	A	+	1	0	ANK2	114190349	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.992000	0.56980	2.455000	0.83008	0.655000	0.94253	GCA		PASS	0.458	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		15	15	15	15	---	---	---	---
PRSS12	8492	broad.mit.edu	37	4	119220048	119220048	+	Silent	SNP	T	T	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr4:119220048T>C	ENST00000296498.3	-	9	1959	c.1677A>G	c.(1675-1677)aaA>aaG	p.K559K	PRSS12_ENST00000510903.1_5'Flank	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	559	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.K559K(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GGATGGGTCCTTTTCCTTCTC	0.448																																						uc003ica.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1675-1677)AAA>AAG		neurotrypsin precursor							133.0	121.0	125.0					4																	119220048		2203	4300	6503	SO:0001819	synonymous_variant	8492					membrane	scavenger receptor activity	g.chr4:119220048T>C	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1677A>G	4.37:g.119220048T>C							p.K559K	NM_003619	NP_003610	P56730	NETR_HUMAN			9	1724	-			559			SRCR 4.		Q9UP16	Silent	SNP	ENST00000296498.3	37	c.1677A>G	CCDS3709.1																																																																																				PASS	0.448	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			16	82	16	82	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126239263	126239263	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr4:126239263C>T	ENST00000394329.3	+	1	1710	c.1697C>T	c.(1696-1698)gCc>gTc	p.A566V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	566	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A566V(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTGTCCTATGCCCAGCTTGTA	0.522											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ifj.3																			2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(1696-1698)GCC>GTC		FAT tumor suppressor homolog 4 precursor							46.0	48.0	48.0					4																	126239263		1949	4155	6104	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126239263C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1697C>T	4.37:g.126239263C>T	ENSP00000377862:p.Ala566Val		OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.A566V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	1697	+			566			Cadherin 5.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.1697C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876290	0.51801	.	.	ENSG00000196159	ENST00000394329	T	0.54071	0.59	4.57	4.57	0.56435	Cadherin (4);Cadherin-like (1);	0.000000	0.34110	U	0.004253	T	0.42449	0.1203	N	0.11818	0.18	0.80722	D	1	B	0.33448	0.412	B	0.40982	0.345	T	0.39461	-0.9613	10	0.31617	T	0.26	.	17.5521	0.87879	0.0:1.0:0.0:0.0	.	566	Q6V0I7	FAT4_HUMAN	V	566	ENSP00000377862:A566V	ENSP00000377862:A566V	A	+	2	0	FAT4	126458713	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	7.495000	0.81514	2.371000	0.80710	0.561000	0.74099	GCC		PASS	0.522	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		31	36	31	36	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134073308	134073308	+	Silent	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr4:134073308C>A	ENST00000264360.5	+	1	2839	c.2013C>A	c.(2011-2013)acC>acA	p.T671T		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	671	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T671T(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TTTCCTCCACCGCCACCCTGG	0.726																																						uc003iha.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2011-2013)ACC>ACA		protocadherin 10 isoform 1 precursor							17.0	21.0	20.0					4																	134073308		2198	4284	6482	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073308C>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2013C>A	4.37:g.134073308C>A						PCDH10_uc003igz.2_Silent_p.T671T	p.T671T	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2839	+			671			Cadherin 6.|Extracellular (Potential).		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.2013C>A	CCDS34063.1																																																																																				PASS	0.726	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		11	13	11	13	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146073750	146073750	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr4:146073750T>A	ENST00000447906.2	-	11	1098	c.911A>T	c.(910-912)gAt>gTt	p.D304V	Y_RNA_ENST00000459374.1_RNA|OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_Missense_Mutation_p.D239V			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	304					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.D238V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TCCTTGAACATCTGCATTCAA	0.363																																						uc003ika.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(715-717)GAT>GTT		OTU domain containing 4 protein isoform 3							75.0	72.0	73.0					4																	146073750		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146073750T>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.911A>T	4.37:g.146073750T>A	ENSP00000395487:p.Asp304Val					OTUD4_uc003ijz.3_Missense_Mutation_p.D238V	p.D239V	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN			11	854	-	all_hematologic(180;0.151)		303					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.716A>T		.	.	.	.	.	.	.	.	.	.	T	15.63	2.889585	0.52014	.	.	ENSG00000164164	ENST00000454497;ENST00000447906;ENST00000514973	T;T;T	0.29917	1.56;1.55;1.55	5.77	5.77	0.91146	.	0.139361	0.47852	D	0.000206	T	0.32585	0.0834	L	0.51422	1.61	0.80722	D	1	B;B	0.20052	0.041;0.024	B;B	0.20384	0.029;0.013	T	0.05699	-1.0869	10	0.54805	T	0.06	-14.3214	16.1475	0.81580	0.0:0.0:0.0:1.0	.	304;303	G3V0I6;Q01804	.;OTUD4_HUMAN	V	239;304;238	ENSP00000409279:D239V;ENSP00000395487:D304V;ENSP00000425972:D238V	ENSP00000395487:D304V	D	-	2	0	OTUD4	146293200	1.000000	0.71417	0.967000	0.41034	0.793000	0.44817	5.346000	0.65992	2.213000	0.71641	0.529000	0.55759	GAT		PASS	0.363	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		39	35	39	35	---	---	---	---
KIAA0922	23240	broad.mit.edu	37	4	154502648	154502648	+	Silent	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr4:154502648C>T	ENST00000409663.3	+	9	880	c.828C>T	c.(826-828)aaC>aaT	p.N276N	KIAA0922_ENST00000440693.1_Silent_p.N276N|KIAA0922_ENST00000409959.3_Silent_p.N276N	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	276						integral component of membrane (GO:0016021)		p.N276N(1)|p.N128N(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TTGAAGAAAACACACAACATT	0.323																																						uc003inm.3																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(826-828)AAC>AAT		hypothetical protein LOC23240 isoform 2							123.0	119.0	120.0					4																	154502648		2203	4300	6503	SO:0001819	synonymous_variant	23240					integral to membrane		g.chr4:154502648C>T	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.828C>T	4.37:g.154502648C>T						KIAA0922_uc010ipp.2_Silent_p.N276N|KIAA0922_uc010ipq.2_Silent_p.N128N	p.N276N	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN			9	880	+	all_hematologic(180;0.093)	Renal(120;0.118)	276			Extracellular (Potential).		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Silent	SNP	ENST00000409663.3	37	c.828C>T	CCDS3783.2																																																																																				PASS	0.323	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		41	70	41	70	---	---	---	---
GUCY1A3	2982	broad.mit.edu	37	4	156634713	156634713	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr4:156634713G>T	ENST00000296518.7	+	7	1759	c.1550G>T	c.(1549-1551)tGt>tTt	p.C517F	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.C517F|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.C517F|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.C517F|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.C517F|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.C259F|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.C517F			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	517	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.C517F(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GACCAGCAGTGTGGAGAGCTG	0.512																																						uc003iov.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1549-1551)TGT>TTT		guanylate cyclase 1, soluble, alpha 3 isoform A							46.0	40.0	42.0					4																	156634713		2203	4300	6503	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156634713G>T		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1550G>T	4.37:g.156634713G>T	ENSP00000296518:p.Cys517Phe					GUCY1A3_uc010iqc.2_Missense_Mutation_p.C517F|GUCY1A3_uc003iow.2_Missense_Mutation_p.C517F|GUCY1A3_uc010iqd.2_Missense_Mutation_p.C516F|GUCY1A3_uc003iox.2_Missense_Mutation_p.C517F|GUCY1A3_uc003ioz.2_Missense_Mutation_p.C282F|GUCY1A3_uc003ioy.2_Missense_Mutation_p.C517F|GUCY1A3_uc010iqe.2_Missense_Mutation_p.C282F|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.C517F	p.C517F	NM_000856	NP_000847	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	8	2086	+	all_hematologic(180;0.24)	Renal(120;0.0854)	517			Guanylate cyclase.		D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.1550G>T	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634672	0.87660	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87	5.78	5.78	0.91487	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000001	D	0.93789	0.8014	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94114	0.7373	10	0.87932	D	0	.	20.0086	0.97443	0.0:0.0:1.0:0.0	.	517;517	B3KU69;Q02108	.;GCYA3_HUMAN	F	517;517;517;517;259;517;517	ENSP00000424361:C517F;ENSP00000421493:C517F;ENSP00000426968:C517F;ENSP00000412201:C517F;ENSP00000377418:C259F;ENSP00000296518:C517F;ENSP00000426040:C517F	ENSP00000296518:C517F	C	+	2	0	GUCY1A3	156854163	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	9.835000	0.99442	2.717000	0.92951	0.655000	0.94253	TGT		PASS	0.512	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			17	22	17	22	---	---	---	---
ASIC5	51802	broad.mit.edu	37	4	156773401	156773401	+	Missense_Mutation	SNP	G	G	C	rs371189803		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr4:156773401G>C	ENST00000537611.2	-	4	699	c.653C>G	c.(652-654)gCa>gGa	p.A218G		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	218					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)	p.A218G(1)									TTTTCTCTTTGCTTGGAGAGT	0.363																																						uc003ipe.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(652-654)GCA>GGA		amiloride-sensitive cation channel 5,							122.0	122.0	122.0					4																	156773401		2203	4300	6503	SO:0001583	missense	51802					integral to membrane|plasma membrane		g.chr4:156773401G>C	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.653C>G	4.37:g.156773401G>C	ENSP00000442477:p.Ala218Gly						p.A218G	NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141)	4	700	-	all_hematologic(180;0.24)	Renal(120;0.0458)	218			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000537611.2	37	c.653C>G	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	G	1.138	-0.650430	0.03506	.	.	ENSG00000256394	ENST00000537611	T	0.63913	-0.07	4.79	-0.489	0.12052	.	1.270400	0.05589	N	0.574252	T	0.54351	0.1853	M	0.63428	1.95	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.26538	-1.0100	10	0.26408	T	0.33	-13.5937	4.1482	0.10225	0.0734:0.1994:0.4096:0.3176	.	218	Q9NY37	ACCN5_HUMAN	G	218	ENSP00000442477:A218G	ENSP00000264432:A218G	A	-	2	0	ACCN5	156992851	0.591000	0.26824	0.001000	0.08648	0.163000	0.22366	0.320000	0.19540	-0.259000	0.09432	0.557000	0.71058	GCA		PASS	0.363	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			66	99	66	99	---	---	---	---
ASIC5	51802	broad.mit.edu	37	4	156775429	156775429	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr4:156775429A>G	ENST00000537611.2	-	3	431	c.385T>C	c.(385-387)Ttt>Ctt	p.F129L		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	129					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)	p.F129L(1)									CATAAGAAAAAAATAACACCA	0.373																																						uc003ipe.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(385-387)TTT>CTT		amiloride-sensitive cation channel 5,							65.0	69.0	68.0					4																	156775429		2203	4300	6503	SO:0001583	missense	51802					integral to membrane|plasma membrane		g.chr4:156775429A>G	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.385T>C	4.37:g.156775429A>G	ENSP00000442477:p.Phe129Leu						p.F129L	NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141)	3	432	-	all_hematologic(180;0.24)	Renal(120;0.0458)	129			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000537611.2	37	c.385T>C	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	A	0.643	-0.812547	0.02798	.	.	ENSG00000256394	ENST00000537611	T	0.62105	0.05	4.4	0.14	0.14804	.	0.089064	0.48286	D	0.000199	T	0.50888	0.1642	M	0.70595	2.14	0.35241	D	0.77786	B	0.02656	0.0	B	0.06405	0.002	T	0.44967	-0.9293	10	0.11485	T	0.65	-33.3573	6.4996	0.22162	0.4943:0.2576:0.0:0.2481	.	129	Q9NY37	ACCN5_HUMAN	L	129	ENSP00000442477:F129L	ENSP00000264432:F129L	F	-	1	0	ACCN5	156994879	1.000000	0.71417	0.697000	0.30258	0.040000	0.13550	1.761000	0.38440	-0.041000	0.13558	-0.403000	0.06358	TTT		PASS	0.373	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			3	119	3	119	---	---	---	---
GRIA2	2891	broad.mit.edu	37	4	158257833	158257834	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr4:158257833_158257834GG>TT	ENST00000264426.9	+	11	2057_2058	c.1778_1779GG>TT	c.(1777-1779)gGG>gTT	p.G593V	GRIA2_ENST00000507898.1_Missense_Mutation_p.G546V|GRIA2_ENST00000296526.7_Missense_Mutation_p.G593V|GRIA2_ENST00000449365.1_Missense_Mutation_p.G546V|GRIA2_ENST00000393815.2_Missense_Mutation_p.G546V	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	593					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.G593V(4)|p.G593G(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AATGAATTTGGGATTTTTAATA	0.421																																						uc003ipm.3																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	central_nervous_system(3)|ovary(1)	4						c.(1777-1779)GGG>GTG|c.(1777-1779)GGG>GGT		glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)																																			SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158257833G>T|g.chr4:158257834G>T		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	Exception_encountered	4.37:g.158257833_158257834delinsTT	ENSP00000264426:p.Gly593Val					GRIA2_uc011cit.1_Missense_Mutation_p.G546V|GRIA2_uc003ipl.3_Missense_Mutation_p.G593V|GRIA2_uc003ipk.3_Missense_Mutation_p.G546V|GRIA2_uc010iqh.1_RNA|GRIA2_uc011cit.1_Silent_p.G546G|GRIA2_uc003ipl.3_Silent_p.G593G|GRIA2_uc003ipk.3_Silent_p.G546G|GRIA2_uc010iqh.1_RNA	p.G593V|p.G593G	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	11	2237|2238	+	all_hematologic(180;0.24)	Renal(120;0.0458)	593			Cytoplasmic (Potential).		A8MT92|I6L997|Q96FP6	Missense_Mutation|Silent	SNP	ENST00000264426.9	37	c.1778G>T|c.1779G>T	CCDS43274.1																																																																																				PASS	0.421	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			70	132|134	70	132	---	---	---	---
GRIA2	2891	broad.mit.edu	37	4	158281082	158281082	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr4:158281082C>G	ENST00000264426.9	+	13	2357	c.2078C>G	c.(2077-2079)aCc>aGc	p.T693S	GRIA2_ENST00000507898.1_Missense_Mutation_p.T646S|AC079233.1_ENST00000578227.1_RNA|GRIA2_ENST00000296526.7_Missense_Mutation_p.T693S|GRIA2_ENST00000449365.1_Missense_Mutation_p.T646S|GRIA2_ENST00000393815.2_Missense_Mutation_p.T646S	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	693					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.T693S(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AAAATGTGGACCTACATGCGG	0.468																																						uc003ipm.3																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(3)|ovary(1)	4						c.(2077-2079)ACC>AGC		glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)						69.0	69.0	69.0					4																	158281082		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158281082C>G		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.2078C>G	4.37:g.158281082C>G	ENSP00000264426:p.Thr693Ser					GRIA2_uc011cit.1_Missense_Mutation_p.T646S|GRIA2_uc003ipl.3_Missense_Mutation_p.T693S|GRIA2_uc003ipk.3_Missense_Mutation_p.T646S|GRIA2_uc010iqh.1_RNA|GRIA2_uc011ciu.1_Missense_Mutation_p.T3S|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_Missense_Mutation_p.T3S|GRIA2_uc011ciy.1_Missense_Mutation_p.T3S|GRIA2_uc011ciz.1_RNA	p.T693S	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	13	2537	+	all_hematologic(180;0.24)	Renal(120;0.0458)	693			Extracellular (Potential).		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.2078C>G	CCDS43274.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.796|2.796	-0.250142|-0.250142	0.05867|0.05867	.|.	.|.	ENSG00000120251|ENSG00000120251	ENST00000510854|ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	.|T;T;T;T;T	.|0.37235	.|1.21;1.21;1.21;1.21;1.21	5.69|5.69	5.69|5.69	0.88448|0.88448	.|Ionotropic glutamate receptor (2);	.|0.165679	.|0.52532	.|D	.|0.000080	T|T	0.14743|0.14743	0.0356|0.0356	N|N	0.01188|0.01188	-0.97|-0.97	0.50632|0.50632	D|D	0.999883|0.999883	.|B;B;B;B;B	.|0.12630	.|0.002;0.002;0.006;0.003;0.003	.|B;B;B;B;B	.|0.15052	.|0.003;0.009;0.012;0.007;0.003	T|T	0.27606|0.27606	-1.0069|-1.0069	5|10	.|0.02654	.|T	.|1	.|.	19.8165|19.8165	0.96571|0.96571	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|721;693;693;693;646	.|Q59F93;P42262-3;P42262;P42262-2;A8MT92	.|.;.;GRIA2_HUMAN;.;.	E|S	23|646;646;693;693;646	.|ENSP00000426845:T646S;ENSP00000377403:T646S;ENSP00000296526:T693S;ENSP00000264426:T693S;ENSP00000389837:T646S	.|ENSP00000264426:T693S	D|T	+|+	3|2	2|0	GRIA2|GRIA2	158500532|158500532	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.873000|4.873000	0.63057|0.63057	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	GAC|ACC		PASS	0.468	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			34	30	34	30	---	---	---	---
FAM149A	25854	broad.mit.edu	37	4	187093067	187093067	+	Splice_Site	SNP	G	G	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr4:187093067G>C	ENST00000356371.5	+	14	2248		c.e14-1		FAM149A_ENST00000503432.1_Splice_Site|FAM149A_ENST00000227065.4_Splice_Site|FAM149A_ENST00000502970.1_Splice_Site|FAM149A_ENST00000514153.1_Splice_Site|FAM149A_ENST00000389354.5_Splice_Site			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A									p.?(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GGTGTTTCCAGGTTCACAATA	0.378																																						uc003iyt.3																			1	Unknown(1)		lung(1)	breast(1)	1						c.e14-1		hypothetical protein LOC25854							110.0	105.0	106.0					4																	187093067		2203	4300	6503	SO:0001630	splice_region_variant	25854							g.chr4:187093067G>C	AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.2249-1G>C	4.37:g.187093067G>C						FAM149A_uc003iyu.3_Splice_Site_p.G459_splice|FAM149A_uc010isl.2_Splice_Site_p.G459_splice|FAM149A_uc011clb.1_Splice_Site_p.G458_splice	p.G459_splice	NM_015398	NP_056213	A5PLN7	F149A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)	14	1955	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)						B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Splice_Site	SNP	ENST00000356371.5	37	c.1376_splice		.	.	.	.	.	.	.	.	.	.	G	16.39	3.110991	0.56398	.	.	ENSG00000109794	ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354;ENST00000512271	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2684	0.87093	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM149A	187330061	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	5.533000	0.67160	2.602000	0.87976	0.650000	0.86243	.		PASS	0.378	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655	Intron	25	50	25	50	---	---	---	---
TUBB7P	56604	broad.mit.edu	37	4	190904507	190904507	+	IGR	SNP	T	T	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr4:190904507T>A								FRG1 (20148 upstream) : RNA5SP174 (31785 downstream)														p.Y158F(1)									CCTGTCTGGGTACTCCTCCCA	0.572																																						uc011clg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(472-474)TAC>TTC		tubulin, beta polypeptide 4, member Q							40.0	55.0	50.0					4																	190904507		2019	3957	5976	SO:0001628	intergenic_variant	56604				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr4:190904507T>A																													4.37:g.190904507T>A							p.Y158F	NM_020040	NP_064424	Q99867	TBB4Q_HUMAN		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)	4	476	-		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	159						Missense_Mutation	SNP		37	c.473A>T																																																																																				0	PASS	0.572									44	67	44	67	---	---	---	---
AHRR	57491	broad.mit.edu	37	5	428049	428049	+	Missense_Mutation	SNP	C	C	T	rs201569519		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr5:428049C>T	ENST00000505113.1	+	8	892	c.848C>T	c.(847-849)gCg>gTg	p.A283V	AHRR_ENST00000316418.5_Missense_Mutation_p.A301V|AHRR_ENST00000512529.1_Missense_Mutation_p.A129V|AHRR_ENST00000506456.1_Missense_Mutation_p.A139V	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	283					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.A297V(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CCCTCCGCAGCGGAGATGAAA	0.617													c|||	1	0.000199681	0.0	0.0	5008	,	,		16346	0.0		0.001	False		,,,				2504	0.0					uc003jav.2																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(901-903)GCG>GTG		arylhydrocarbon receptor repressor							26.0	31.0	30.0					5																	428049		1993	4159	6152	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:428049C>T	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.848C>T	5.37:g.428049C>T	ENSP00000424601:p.Ala283Val					AHRR_uc003jaw.2_Missense_Mutation_p.A279V|AHRR_uc010isy.2_Missense_Mutation_p.A129V|AHRR_uc010isz.2_Missense_Mutation_p.A279V|AHRR_uc003jax.2_Missense_Mutation_p.A42V|AHRR_uc003jay.2_Missense_Mutation_p.A139V	p.A301V	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		9	946	+			283					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.902C>T	CCDS56355.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	5.138	0.211015	0.09757	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456;ENST00000511487	T;T;T;T;T	0.52983	2.29;2.3;1.98;1.96;0.64	4.88	3.1	0.35709	.	0.403353	0.28641	N	0.014627	T	0.20618	0.0496	N	0.12182	0.205	0.09310	N	1	B;B;B	0.31351	0.048;0.219;0.32	B;B;B	0.27500	0.011;0.026;0.08	T	0.18681	-1.0329	10	0.08599	T	0.76	.	4.5226	0.11966	0.1751:0.6346:0.0:0.1903	.	139;283;301	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	V	283;301;129;139;6	ENSP00000424601:A283V;ENSP00000323816:A301V;ENSP00000424880:A129V;ENSP00000426932:A139V;ENSP00000426076:A6V	ENSP00000323816:A301V	A	+	2	0	AHRR	481049	0.160000	0.22878	0.000000	0.03702	0.005000	0.04900	2.031000	0.41117	0.469000	0.27268	0.580000	0.79431	GCG		PASS	0.617	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		20	64	20	64	---	---	---	---
TAS2R1	50834	broad.mit.edu	37	5	9629449	9629449	+	Silent	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr5:9629449G>T	ENST00000382492.2	-	1	1014	c.696C>A	c.(694-696)tcC>tcA	p.S232S	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	232					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.S232S(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GGATCAGGAAGGACAGGATAG	0.502																																						uc003jem.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(694-696)TCC>TCA		taste receptor T2R1							74.0	81.0	79.0					5																	9629449		2203	4300	6503	SO:0001819	synonymous_variant	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9629449G>T	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.696C>A	5.37:g.9629449G>T							p.S232S	NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN			1	1015	-			232			Helical; Name=6; (Potential).		Q646G8	Silent	SNP	ENST00000382492.2	37	c.696C>A	CCDS3876.1																																																																																				PASS	0.502	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			35	75	35	75	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13830718	13830718	+	Silent	SNP	G	G	T	rs143679999	byFrequency	TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr5:13830718G>T	ENST00000265104.4	-	36	6153	c.6049C>A	c.(6049-6051)Cgg>Agg	p.R2017R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2017	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R2017R(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTAAAAATCCGTCCAAGTCCT	0.398									Kartagener syndrome																													uc003jfd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(6049-6051)CGG>AGG		dynein, axonemal, heavy chain 5							95.0	95.0	95.0					5																	13830718		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13830718G>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.6049C>A	5.37:g.13830718G>T							p.R2017R	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			36	6091	-	Lung NSC(4;0.00476)		2017			AAA 1 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.6049C>A	CCDS3882.1																																																																																				PASS	0.398	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		22	136	22	136	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31799815	31799815	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr5:31799815G>T	ENST00000438447.1	+	2	848	c.460G>T	c.(460-462)Gat>Tat	p.D154Y	PDZD2_ENST00000282493.3_Missense_Mutation_p.D154Y			O15018	PDZD2_HUMAN	PDZ domain containing 2	154	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.D154Y(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGTTGGAGTTGATGTCAGTGG	0.582																																						uc003jhl.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(460-462)GAT>TAT		PDZ domain containing 2							78.0	82.0	81.0					5																	31799815		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31799815G>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.460G>T	5.37:g.31799815G>T	ENSP00000402033:p.Asp154Tyr					PDZD2_uc003jhm.2_Missense_Mutation_p.D154Y	p.D154Y	NM_178140	NP_835260	O15018	PDZD2_HUMAN			2	848	+			154			PDZ 1.		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.460G>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283565	0.80803	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.79141	-1.24;-1.24	5.38	5.38	0.77491	PDZ/DHR/GLGF (3);	0.000000	0.47455	D	0.000231	T	0.81955	0.4932	L	0.27053	0.805	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	D	0.84356	0.0535	10	0.87932	D	0	.	16.6162	0.84916	0.0:0.0:1.0:0.0	.	154	O15018	PDZD2_HUMAN	Y	154	ENSP00000402033:D154Y;ENSP00000282493:D154Y	ENSP00000282493:D154Y	D	+	1	0	PDZD2	31835572	1.000000	0.71417	0.931000	0.37212	0.992000	0.81027	7.238000	0.78173	2.515000	0.84797	0.561000	0.74099	GAT		PASS	0.582	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			31	90	31	90	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33546195	33546195	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr5:33546195C>A	ENST00000504830.1	-	22	4750	c.4415G>T	c.(4414-4416)tGc>tTc	p.C1472F	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.C1387F	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1472	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C1472F(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCAGTGACAGCACAGGTGCTC	0.443										HNSCC(64;0.19)																												uc003jia.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(4414-4416)TGC>TTC		ADAM metallopeptidase with thrombospondin type 1							121.0	106.0	111.0					5																	33546195		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33546195C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4415G>T	5.37:g.33546195C>A	ENSP00000422554:p.Cys1472Phe	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.C1387F	p.C1472F	NM_030955	NP_112217	P58397	ATS12_HUMAN			22	4578	-			1472			TSP type-1 8.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.4415G>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579824	0.65992	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	D;D	0.98762	-5.12;-5.12	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.99600	0.9855	H	0.99789	4.78	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.996;0.998	D	0.97390	0.9988	10	0.87932	D	0	.	14.6266	0.68626	0.0:1.0:0.0:0.0	.	1387;1472	P58397-3;P58397	.;ATS12_HUMAN	F	1472;1387	ENSP00000422554:C1472F;ENSP00000344847:C1387F	ENSP00000344847:C1387F	C	-	2	0	ADAMTS12	33581952	1.000000	0.71417	0.980000	0.43619	0.834000	0.47266	4.457000	0.60088	2.523000	0.85059	0.655000	0.94253	TGC		PASS	0.443	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		36	134	36	134	---	---	---	---
SPEF2	79925	broad.mit.edu	37	5	35740020	35740020	+	Splice_Site	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr5:35740020G>T	ENST00000356031.3	+	22	3217		c.e22-1		CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Splice_Site	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2						axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCATTTAACAGGAAATGCCTT	0.353																																						uc003jjo.2																			1	Unknown(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.e22-1		KPL2 protein isoform 1							66.0	62.0	63.0					5																	35740020		1836	4089	5925	SO:0001630	splice_region_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35740020G>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3064-1G>T	5.37:g.35740020G>T						SPEF2_uc003jjp.1_Splice_Site_p.E508_splice	p.E1022_splice	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		22	3175	+	all_lung(31;7.56e-05)							Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Splice_Site	SNP	ENST00000356031.3	37	c.3064_splice	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.117163	0.37339	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1338	0.98010	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPEF2	35775777	1.000000	0.71417	1.000000	0.80357	0.166000	0.22503	6.778000	0.75043	2.770000	0.95276	0.655000	0.94253	.		PASS	0.353	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722	Intron	20	106	20	106	---	---	---	---
C7	730	broad.mit.edu	37	5	40959662	40959662	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr5:40959662C>G	ENST00000313164.9	+	12	1960	c.1601C>G	c.(1600-1602)tCc>tGc	p.S534C		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	534	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.S534C(1)					Ovarian(839;0.0112)				GGTGGGAGATCCTGCGTTGGA	0.547																																						uc003jmh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1600-1602)TCC>TGC		complement component 7 precursor							69.0	77.0	74.0					5																	40959662		1986	4168	6154	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40959662C>G	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1601C>G	5.37:g.40959662C>G	ENSP00000322061:p.Ser534Cys					C7_uc011cpn.1_RNA	p.S534C	NM_000587	NP_000578	P10643	CO7_HUMAN			12	1715	+		Ovarian(839;0.0112)	534			TSP type-1 2.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.1601C>G	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	C	9.140	1.013718	0.19277	.	.	ENSG00000112936	ENST00000313164;ENST00000440677	T	0.55052	0.54	5.21	3.41	0.39046	.	0.712542	0.14464	N	0.317998	T	0.53642	0.1809	M	0.81341	2.54	0.09310	N	0.999991	B	0.30146	0.27	B	0.34931	0.192	T	0.50065	-0.8871	10	0.38643	T	0.18	-2.6585	6.5092	0.22212	0.1428:0.7013:0.0:0.1558	.	534	P10643	CO7_HUMAN	C	534;374	ENSP00000322061:S534C	ENSP00000322061:S534C	S	+	2	0	C7	40995419	0.001000	0.12720	0.542000	0.28115	0.093000	0.18481	0.375000	0.20518	1.202000	0.43218	0.462000	0.41574	TCC		PASS	0.547	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			6	35	6	35	---	---	---	---
NNT	23530	broad.mit.edu	37	5	43677883	43677883	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr5:43677883C>T	ENST00000264663.5	+	19	3072	c.2851C>T	c.(2851-2853)Ctc>Ttc	p.L951F	NNT_ENST00000512996.2_Missense_Mutation_p.L820F|NNT_ENST00000344920.4_Missense_Mutation_p.L951F	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	951					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)	p.L951F(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					GGTAAAGATGCTCACTGAGCA	0.428																																						uc003joe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2851-2853)CTC>TTC		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						152.0	147.0	149.0					5																	43677883		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43677883C>T	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2851C>T	5.37:g.43677883C>T	ENSP00000264663:p.Leu951Phe					NNT_uc003jof.2_Missense_Mutation_p.L951F	p.L951F	NM_012343	NP_036475	Q13423	NNTM_HUMAN			19	3106	+	Lung NSC(6;2.58e-06)		951			Mitochondrial matrix.		Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.2851C>T	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479042	0.84747	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.95788	-3.81;-3.81;-3.81	5.19	5.19	0.71726	.	0.061037	0.64402	D	0.000002	D	0.98438	0.9480	H	0.98178	4.165	0.58432	D	0.999998	D	0.64830	0.994	D	0.66351	0.943	D	0.99023	1.0818	10	0.87932	D	0	-8.01	12.9639	0.58473	0.0:0.9147:0.0:0.0852	.	951	Q13423	NNTM_HUMAN	F	466;951;951;820	ENSP00000264663:L951F;ENSP00000343873:L951F;ENSP00000426343:L820F	ENSP00000264663:L951F	L	+	1	0	NNT	43713640	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.294000	0.59043	2.584000	0.87258	0.558000	0.71614	CTC		PASS	0.428	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		28	255	28	255	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45645413	45645413	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr5:45645413T>G	ENST00000303230.4	-	2	780	c.723A>C	c.(721-723)aaA>aaC	p.K241N		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	241					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.K241N(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AATCCATTCCTTTTTCTACAA	0.373																																						uc003jok.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(721-723)AAA>AAC		hyperpolarization activated cyclic							58.0	55.0	56.0					5																	45645413		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45645413T>G	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.723A>C	5.37:g.45645413T>G	ENSP00000307342:p.Lys241Asn						p.K241N	NM_021072	NP_066550	O60741	HCN1_HUMAN			2	748	-			241			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.723A>C	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	T	15.09	2.729396	0.48833	.	.	ENSG00000164588	ENST00000303230	D	0.98437	-4.93	5.37	4.21	0.49690	Ion transport (1);	0.000000	0.64402	D	0.000006	D	0.96448	0.8841	L	0.38175	1.15	0.47441	D	0.999429	B	0.26577	0.153	B	0.38296	0.27	D	0.94010	0.7283	10	0.48119	T	0.1	.	11.082	0.48066	0.0:0.073:0.0:0.927	.	241	O60741	HCN1_HUMAN	N	241	ENSP00000307342:K241N	ENSP00000307342:K241N	K	-	3	2	HCN1	45681170	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.049000	0.41288	0.881000	0.35993	0.454000	0.30748	AAA		PASS	0.373	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		7	103	7	103	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71493830	71493830	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr5:71493830G>T	ENST00000296755.7	+	5	4946	c.4648G>T	c.(4648-4650)Gcc>Tcc	p.A1550S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1550					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.A1550S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GGAGGGTGTGGCCTCAGTGTC	0.512																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(4648-4650)GCC>TCC		microtubule-associated protein 1B							113.0	96.0	102.0					5																	71493830		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71493830G>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.4648G>T	5.37:g.71493830G>T	ENSP00000296755:p.Ala1550Ser					MAP1B_uc010iyw.1_Missense_Mutation_p.A1567S|MAP1B_uc010iyx.1_Missense_Mutation_p.A1424S|MAP1B_uc010iyy.1_Missense_Mutation_p.A1424S	p.A1550S	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	4889	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1550					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.4648G>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107590	0.56291	.	.	ENSG00000131711	ENST00000296755	T	0.03889	3.77	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000008	T	0.09598	0.0236	N	0.11560	0.145	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68039	0.955;0.955	T	0.50717	-0.8795	10	0.40728	T	0.16	-20.8229	18.7095	0.91651	0.0:0.0:1.0:0.0	.	1424;1550	A2BDK6;P46821	.;MAP1B_HUMAN	S	1550	ENSP00000296755:A1550S	ENSP00000296755:A1550S	A	+	1	0	MAP1B	71529586	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	9.476000	0.97823	2.435000	0.82474	0.313000	0.20887	GCC		PASS	0.512	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		61	50	61	50	---	---	---	---
POLK	51426	broad.mit.edu	37	5	74893590	74893590	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr5:74893590A>G	ENST00000241436.4	+	14	2676	c.2504A>G	c.(2503-2505)cAg>cGg	p.Q835R	POLK_ENST00000352007.5_Missense_Mutation_p.Q637R|CTC-366B18.2_ENST00000511329.1_RNA|POLK_ENST00000508526.1_Missense_Mutation_p.Q637R|POLK_ENST00000504026.1_Missense_Mutation_p.R459G|POLK_ENST00000380481.3_Missense_Mutation_p.Q745R|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	835					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.Q835R(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AGTGGAGTACAGAAGGCTGTA	0.254								DNA polymerases (catalytic subunits)																														uc003kdw.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(2)	4						c.(2503-2505)CAG>CGG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase kappa							44.0	49.0	47.0					5																	74893590		2199	4285	6484	SO:0001583	missense	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74893590A>G	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.2504A>G	5.37:g.74893590A>G	ENSP00000241436:p.Gln835Arg					POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Missense_Mutation_p.Q637R|POLK_uc003kec.2_Missense_Mutation_p.Q745R|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Missense_Mutation_p.R369G|POLK_uc003kee.2_Missense_Mutation_p.R459G|POLK_uc003kef.2_Missense_Mutation_p.Q745R	p.Q835R	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	14	2600	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	835					B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	c.2504A>G	CCDS4030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.58|11.58	1.680548|1.680548	0.29872|0.29872	.|.	.|.	ENSG00000122008|ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481|ENST00000504026	T;T;T;T|T	0.57752|0.55234	1.23;0.38;0.38;1.22|0.53	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	0.752409|.	0.12640|.	N|.	0.451363|.	T|T	0.47783|0.47783	0.1464|0.1464	M|M	0.63843|0.63843	1.955|1.955	0.37802|0.37802	D|D	0.927744|0.927744	P;B|B	0.40731|0.33694	0.728;0.014|0.421	B;B|B	0.43623|0.24848	0.425;0.007|0.056	T|T	0.59327|0.59327	-0.7475|-0.7475	10|9	0.72032|0.87932	D|D	0.01|0	-3.5205|-3.5205	12.4533|12.4533	0.55688|0.55688	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	637;835|459	Q9UBT6-3;Q9UBT6|Q5Q9G5	.;POLK_HUMAN|.	R|G	835;637;637;745|459	ENSP00000241436:Q835R;ENSP00000342256:Q637R;ENSP00000426853:Q637R;ENSP00000369848:Q745R|ENSP00000425075:R459G	ENSP00000241436:Q835R|ENSP00000425075:R459G	Q|R	+|+	2|1	0|2	POLK|POLK	74929346|74929346	0.997000|0.997000	0.39634|0.39634	0.991000|0.991000	0.47740|0.47740	0.308000|0.308000	0.27856|0.27856	3.077000|3.077000	0.50089|0.50089	1.947000|1.947000	0.56498|0.56498	0.459000|0.459000	0.35465|0.35465	CAG|AGA		PASS	0.254	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218		40	39	40	39	---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79084821	79084821	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr5:79084821G>T	ENST00000446378.2	+	10	11614	c.11583G>T	c.(11581-11583)caG>caT	p.Q3861H	CTC-431G16.2_ENST00000421252.2_RNA	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3861	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.Q3861H(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAGGACTCCAGCTGAAAGTTA	0.368																																						uc003kgc.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(2)|lung(1)	9						c.(11581-11583)CAG>CAT		cardiomyopathy associated 5							137.0	132.0	134.0					5																	79084821		1859	4107	5966	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79084821G>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.11583G>T	5.37:g.79084821G>T	ENSP00000394770:p.Gln3861His						p.Q3861H	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	10	11655	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	3861			Fibronectin type-III 2.		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.11583G>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320350	0.60634	.	.	ENSG00000164309	ENST00000446378	T	0.52057	0.68	5.75	3.04	0.35103	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46386	0.1390	N	0.12569	0.235	0.36097	D	0.843877	D	0.89917	1.0	D	0.73708	0.981	T	0.54275	-0.8318	9	0.52906	T	0.07	.	9.1527	0.36973	0.3379:0.0:0.6621:0.0	.	3861	Q8N3K9	CMYA5_HUMAN	H	3861	ENSP00000394770:Q3861H	ENSP00000394770:Q3861H	Q	+	3	2	CMYA5	79120577	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.580000	0.46068	0.369000	0.24510	0.650000	0.86243	CAG		PASS	0.368	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		83	96	83	96	---	---	---	---
YTHDC2	64848	broad.mit.edu	37	5	112849645	112849645	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr5:112849645G>A	ENST00000161863.4	+	1	266	c.53G>A	c.(52-54)gGa>gAa	p.G18E	YTHDC2_ENST00000515883.1_Missense_Mutation_p.G18E	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	18	Gly-rich.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)	p.G18E(1)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GGCGGTGGCGGAGGCGGCGGC	0.692																																						uc003kqn.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(52-54)GGA>GAA		YTH domain containing 2							7.0	9.0	8.0					5																	112849645		2113	4109	6222	SO:0001583	missense	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112849645G>A	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.53G>A	5.37:g.112849645G>A	ENSP00000161863:p.Gly18Glu					YTHDC2_uc010jce.1_Missense_Mutation_p.G18E|YTHDC2_uc010jcf.1_5'UTR	p.G18E	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	1	236	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	18			Gly-rich.		B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	c.53G>A	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.504679	0.26949	.	.	ENSG00000047188	ENST00000161863;ENST00000515883	T;T	0.06687	4.27;3.27	4.05	3.16	0.36331	.	0.218614	0.23237	N	0.050395	T	0.04952	0.0133	N	0.14661	0.345	0.28865	N	0.895316	B	0.16166	0.016	B	0.14023	0.01	T	0.14254	-1.0479	10	0.72032	D	0.01	.	6.9995	0.24801	0.1282:0.0:0.8718:0.0	.	18	Q9H6S0	YTDC2_HUMAN	E	18	ENSP00000161863:G18E;ENSP00000423101:G18E	ENSP00000161863:G18E	G	+	2	0	YTHDC2	112877544	0.907000	0.30839	0.516000	0.27786	0.102000	0.19082	1.801000	0.38843	1.968000	0.57251	0.436000	0.28706	GGA		PASS	0.692	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		2	1	2	1	---	---	---	---
KCNN2	3781	broad.mit.edu	37	5	113831657	113831657	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr5:113831657G>T	ENST00000512097.3	+	9	2536	c.1518G>T	c.(1516-1518)agG>agT	p.R506S	RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000503706.1_Missense_Mutation_p.R158S|KCNN2_ENST00000264773.3_Missense_Mutation_p.R506S			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	506					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.R158S(1)|p.R506S(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	TCGAGAAGAGGATTGTTACCC	0.428																																						uc003kqo.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1516-1518)AGG>AGT		small conductance calcium-activated potassium							123.0	127.0	125.0					5																	113831657		2202	4300	6502	SO:0001583	missense	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113831657G>T	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.1518G>T	5.37:g.113831657G>T	ENSP00000427120:p.Arg506Ser					KCNN2_uc003kqp.2_Missense_Mutation_p.R158S|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron	p.R506S	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	8	1975	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	506					A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	c.1518G>T	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585199	0.66105	.	.	ENSG00000080709	ENST00000264773;ENST00000503706	D;D	0.98876	-5.2;-3.78	5.28	2.49	0.30216	.	0.000000	0.85682	D	0.000000	D	0.97813	0.9282	M	0.78456	2.415	0.80722	D	1	D	0.52996	0.957	P	0.49502	0.613	D	0.95713	0.8759	10	0.87932	D	0	.	5.524	0.16947	0.296:0.1362:0.5678:0.0	.	506	Q9H2S1	KCNN2_HUMAN	S	506;158	ENSP00000264773:R506S;ENSP00000421439:R158S	ENSP00000264773:R506S	R	+	3	2	KCNN2	113859556	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.270000	0.65547	0.223000	0.20920	-0.163000	0.13421	AGG		PASS	0.428	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		109	121	109	121	---	---	---	---
FTMT	94033	broad.mit.edu	37	5	121187977	121187977	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr5:121187977G>T	ENST00000321339.1	+	1	328	c.319G>T	c.(319-321)Gcc>Tcc	p.A107S		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	107	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)	p.A107S(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GGATGACGTGGCCTTGAACAA	0.587																																						uc003kss.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(319-321)GCC>TCC		ferritin mitochondrial precursor							80.0	65.0	70.0					5																	121187977		2203	4300	6503	SO:0001583	missense	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121187977G>T	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.319G>T	5.37:g.121187977G>T	ENSP00000313691:p.Ala107Ser						p.A107S	NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	328	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	107			Ferritin-like diiron.			Missense_Mutation	SNP	ENST00000321339.1	37	c.319G>T	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927662	0.73327	.	.	ENSG00000181867	ENST00000321339	T	0.69306	-0.39	3.39	3.39	0.38822	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.000000	0.85682	D	0.000000	T	0.78253	0.4254	M	0.73319	2.225	0.53005	D	0.999966	D	0.53619	0.961	D	0.66602	0.945	T	0.80919	-0.1167	10	0.66056	D	0.02	.	13.0932	0.59176	0.0:0.0:1.0:0.0	.	107	Q8N4E7	FTMT_HUMAN	S	107	ENSP00000313691:A107S	ENSP00000313691:A107S	A	+	1	0	FTMT	121215876	1.000000	0.71417	0.989000	0.46669	0.971000	0.66376	7.027000	0.76463	2.190000	0.69967	0.655000	0.94253	GCC		PASS	0.587	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		33	34	33	34	---	---	---	---
SNX24	28966	broad.mit.edu	37	5	122272481	122272481	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr5:122272481G>A	ENST00000261369.4	+	2	298	c.113G>A	c.(112-114)aGa>aAa	p.R38K	SNX24_ENST00000506996.1_Missense_Mutation_p.R38K|SNX24_ENST00000511211.1_3'UTR|SNX24_ENST00000395451.4_Missense_Mutation_p.R71K|SNX24_ENST00000513881.1_Missense_Mutation_p.R38K	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	38	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.R38K(1)		lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		GTTGAAAAGAGATACAGCGAA	0.299																																						uc011cwo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(112-114)AGA>AAA		SBBI31 protein							128.0	116.0	120.0					5																	122272481		2203	4299	6502	SO:0001583	missense	28966				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr5:122272481G>A	AF139461	CCDS4132.1	5q23.2	2008-03-11	2007-08-15		ENSG00000064652	ENSG00000064652		"""Sorting nexins"""	21533	protein-coding gene	gene with protein product						12461558	Standard	NM_014035		Approved	SBBI31	uc011cwo.2	Q9Y343	OTTHUMG00000128913	ENST00000261369.4:c.113G>A	5.37:g.122272481G>A	ENSP00000261369:p.Arg38Lys					SNX24_uc003ktf.2_Missense_Mutation_p.R38K|SNX24_uc010jcy.2_Missense_Mutation_p.R38K	p.R38K	NM_014035	NP_054754	Q9Y343	SNX24_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)	2	282	+		Prostate(80;0.0387)	38			PX.	Phosphatidylinositol 3-phosphate (By similarity).	Q6UY33	Missense_Mutation	SNP	ENST00000261369.4	37	c.113G>A	CCDS4132.1	.	.	.	.	.	.	.	.	.	.	G	34	5.294787	0.95546	.	.	ENSG00000064652	ENST00000261369;ENST00000513881;ENST00000395451;ENST00000506996	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.69	5.69	0.88448	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.80691	0.4671	H	0.96748	3.875	0.80722	D	1	P;D	0.55605	0.794;0.972	P;D	0.69824	0.867;0.966	D	0.86236	0.1640	10	0.87932	D	0	-7.3166	20.181	0.98201	0.0:0.0:1.0:0.0	.	38;38	Q9Y343;Q9Y343-2	SNX24_HUMAN;.	K	38;38;71;38	ENSP00000261369:R38K;ENSP00000424149:R38K;ENSP00000378837:R71K;ENSP00000422535:R38K	ENSP00000261369:R38K	R	+	2	0	SNX24	122300380	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.348000	0.97062	2.840000	0.97914	0.655000	0.94253	AGA		PASS	0.299	SNX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250885.2	NM_014035		39	48	39	48	---	---	---	---
PCDHGB2	56103	broad.mit.edu	37	5	140741839	140741839	+	Silent	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr5:140741839C>T	ENST00000522605.1	+	1	2137	c.2137C>T	c.(2137-2139)Ctg>Ttg	p.L713L	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA3_ENST00000253812.6_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	713					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L713L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAATCTCCCTGCGCCTGCG	0.572																																						uc003ljs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(2137-2139)CTG>TTG		protocadherin gamma subfamily B, 2 isoform 1							94.0	98.0	97.0					5																	140741839		2035	4191	6226	SO:0001819	synonymous_variant	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140741839C>T	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.2137C>T	5.37:g.140741839C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Silent_p.L713L|PCDHGA5_uc011das.1_5'Flank	p.L713L	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2137	+			713			Cytoplasmic (Potential).		Q3MIJ3|Q9UN65	Silent	SNP	ENST00000522605.1	37	c.2137C>T	CCDS54924.1																																																																																				PASS	0.572	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		63	103	63	103	---	---	---	---
PCDHGB4	8641	broad.mit.edu	37	5	140769700	140769700	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr5:140769700A>T	ENST00000519479.1	+	1	2249	c.2249A>T	c.(2248-2250)tAc>tTc	p.Y750F	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_5'Flank|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	750					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y750F(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTATTCCTACAATCTATGT	0.483																																						uc003lkc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2248-2250)TAC>TTC		protocadherin gamma subfamily B, 4 isoform 1							253.0	257.0	256.0					5																	140769700		1921	4133	6054	SO:0001583	missense	8641				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140769700A>T	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.2249A>T	5.37:g.140769700A>T	ENSP00000428288:p.Tyr750Phe					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.Y750F	p.Y750F	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2249	+			750			Cytoplasmic (Potential).		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.2249A>T	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	16.48	3.134162	0.56828	.	.	ENSG00000253953	ENST00000519479	T	0.52057	0.68	5.63	5.63	0.86233	.	.	.	.	.	T	0.65544	0.2701	M	0.93939	3.475	0.30381	N	0.781939	B;B	0.29481	0.245;0.19	B;B	0.36335	0.222;0.118	T	0.70777	-0.4780	9	0.72032	D	0.01	.	15.5034	0.75719	1.0:0.0:0.0:0.0	.	750;750	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	F	750	ENSP00000428288:Y750F	ENSP00000428288:Y750F	Y	+	2	0	PCDHGB4	140749884	1.000000	0.71417	1.000000	0.80357	0.534000	0.34807	7.562000	0.82300	2.142000	0.66516	0.460000	0.39030	TAC		PASS	0.483	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		199	242	199	242	---	---	---	---
PCDH1	5097	broad.mit.edu	37	5	141248635	141248635	+	Silent	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr5:141248635C>T	ENST00000394536.3	-	2	541	c.402G>A	c.(400-402)ctG>ctA	p.L134L	PCDH1_ENST00000503492.1_Silent_p.L134L|PCDH1_ENST00000456271.1_Silent_p.L134L|PCDH1_ENST00000511044.1_5'Flank|PCDH1_ENST00000287008.3_Silent_p.L134L|PCDH1_ENST00000536585.1_Silent_p.L112L	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	134	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L134L(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CCTCAAACTCCAGGATGCAGG	0.547																																					Ovarian(132;1609 1739 4190 14731 45037)	uc003llq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(400-402)CTG>CTA		protocadherin 1 isoform 1 precursor							148.0	141.0	143.0					5																	141248635		2203	4300	6503	SO:0001819	synonymous_variant	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141248635C>T	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.402G>A	5.37:g.141248635C>T						PCDH1_uc003llp.2_Silent_p.L134L|PCDH1_uc011dbf.1_Silent_p.L112L	p.L134L	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	2	519	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	134			Extracellular (Potential).|Cadherin 1.		Q8IUP2	Silent	SNP	ENST00000394536.3	37	c.402G>A	CCDS43375.1																																																																																				PASS	0.547	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		47	58	47	58	---	---	---	---
LCP2	3937	broad.mit.edu	37	5	169679495	169679495	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr5:169679495C>G	ENST00000046794.5	-	19	1881	c.1266G>C	c.(1264-1266)tgG>tgC	p.W422C	LCP2_ENST00000521416.1_Missense_Mutation_p.W217C	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	422	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)		p.W422C(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		AAGAAACGTACCACTCTTCAT	0.294																																						uc003man.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1264-1266)TGG>TGC		lymphocyte cytosolic protein 2							45.0	42.0	43.0					5																	169679495		1809	4070	5879	SO:0001583	missense	3937				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding	g.chr5:169679495C>G		CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"""SH2 domain containing"""	6529	protein-coding gene	gene with protein product	"""76 kDa tyrosine phosphoprotein"", ""SH2 domain-containing leukocyte protein of 76kD"""	601603	"""lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"""	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.1266G>C	5.37:g.169679495C>G	ENSP00000046794:p.Trp422Cys					C5orf58_uc003mal.2_RNA|LCP2_uc011des.1_Missense_Mutation_p.W217C|LCP2_uc011det.1_Missense_Mutation_p.W251C	p.W422C	NM_005565	NP_005556	Q13094	LCP2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)	19	1473	-	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	422			SH2.		A8KA25|Q53XV4	Missense_Mutation	SNP	ENST00000046794.5	37	c.1266G>C	CCDS47339.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623699	0.66901	.	.	ENSG00000043462	ENST00000046794;ENST00000521416	D;D	0.94687	-3.49;-3.49	4.99	4.99	0.66335	SH2 motif (4);	0.158507	0.46758	D	0.000277	D	0.98137	0.9385	H	0.95260	3.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99437	1.0937	9	.	.	.	-8.2808	17.2156	0.86943	0.0:1.0:0.0:0.0	.	217;422	E7ESF6;Q13094	.;LCP2_HUMAN	C	422;217	ENSP00000046794:W422C;ENSP00000428871:W217C	.	W	-	3	0	LCP2	169612073	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.297000	0.65704	2.475000	0.83589	0.462000	0.41574	TGG		PASS	0.294	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	NM_005565		7	12	7	12	---	---	---	---
SYCP2L	221711	broad.mit.edu	37	6	10894192	10894192	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr6:10894192A>T	ENST00000283141.6	+	3	467	c.171A>T	c.(169-171)aaA>aaT	p.K57N	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_5'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	57						nucleus (GO:0005634)		p.K57N(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TTCCTCAAAAATATAATCGTC	0.308																																						uc003mzo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(169-171)AAA>AAT		synaptonemal complex protein 2-like							37.0	35.0	36.0					6																	10894192		1806	4068	5874	SO:0001583	missense	221711					nucleus		g.chr6:10894192A>T	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.171A>T	6.37:g.10894192A>T	ENSP00000283141:p.Lys57Asn					SYCP2L_uc011dim.1_RNA	p.K57N	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		3	467	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	57					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	c.171A>T	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	A	12.09	1.832416	0.32421	.	.	ENSG00000153157	ENST00000283141	T	0.25579	1.79	5.41	1.6	0.23607	.	0.255092	0.33895	N	0.004442	T	0.24084	0.0583	M	0.79258	2.445	0.41296	D	0.987011	D	0.67145	0.996	P	0.59948	0.866	T	0.08166	-1.0735	10	0.48119	T	0.1	-17.9975	1.0792	0.01639	0.47:0.1481:0.2392:0.1427	.	57	Q5T4T6	SYC2L_HUMAN	N	57	ENSP00000283141:K57N	ENSP00000283141:K57N	K	+	3	2	SYCP2L	11002178	0.972000	0.33761	0.675000	0.29917	0.043000	0.13939	0.198000	0.17217	0.035000	0.15519	0.459000	0.35465	AAA		PASS	0.308	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		25	81	25	81	---	---	---	---
LRRC16A	55604	broad.mit.edu	37	6	25450634	25450634	+	Silent	SNP	A	A	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr6:25450634A>G	ENST00000329474.6	+	7	905	c.537A>G	c.(535-537)caA>caG	p.Q179Q	LRRC16A_ENST00000377969.3_Silent_p.Q18Q	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	179					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)	p.Q179Q(2)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AAGAAGTACAATGGGTAAGAA	0.388																																						uc011djw.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						c.(535-537)CAA>CAG		leucine rich repeat containing 16A							176.0	149.0	158.0					6																	25450634		1877	4114	5991	SO:0001819	synonymous_variant	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25450634A>G	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.537A>G	6.37:g.25450634A>G						LRRC16A_uc010jpx.2_Silent_p.Q179Q|LRRC16A_uc010jpy.2_Silent_p.Q179Q|LRRC16A_uc003nez.1_Silent_p.Q18Q	p.Q179Q	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN			7	913	+			179					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Silent	SNP	ENST00000329474.6	37	c.537A>G	CCDS54973.1																																																																																				PASS	0.388	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		20	48	20	48	---	---	---	---
HIST1H4D	8360	broad.mit.edu	37	6	26189072	26189072	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr6:26189072T>A	ENST00000340756.2	-	1	232	c.233A>T	c.(232-234)aAa>aTa	p.K78I		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	78					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.K78I(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				TGTCTTGCGTTTGGCGTGTTC	0.522																																						uc003ngu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(232-234)AAA>ATA		histone cluster 1, H4d							138.0	119.0	125.0					6																	26189072		2203	4300	6503	SO:0001583	missense	8360				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26189072T>A	X60482	CCDS4589.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000188987	ENSG00000277157		"""Histones / Replication-dependent"""	4782	protein-coding gene	gene with protein product		602823	"""H4 histone family, member B"", ""histone 1, H4d"""	H4FB		9119399, 12408966	Standard	NM_003539		Approved	H4/b	uc003ngu.3	P62805	OTTHUMG00000014423	ENST00000340756.2:c.233A>T	6.37:g.26189072T>A	ENSP00000343282:p.Lys78Ile						p.K78I	NM_003539	NP_003530	P62805	H4_HUMAN			1	233	-		all_hematologic(11;0.196)	78					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000340756.2	37	c.233A>T	CCDS4589.1	.	.	.	.	.	.	.	.	.	.	.	34	5.308707	0.95629	.	.	ENSG00000188987	ENST00000340756	T	0.76839	-1.05	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.81987	0.4939	.	.	.	0.41753	D	0.98967	.	.	.	.	.	.	D	0.85185	0.1006	7	0.87932	D	0	.	14.4576	0.67428	0.0:0.0:0.0:1.0	.	.	.	.	I	78	ENSP00000343282:K78I	ENSP00000343282:K78I	K	-	2	0	HIST1H4D	26297051	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	7.572000	0.82409	2.017000	0.59298	0.528000	0.53228	AAA		PASS	0.522	HIST1H4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040085.1	NM_003539		46	94	46	94	---	---	---	---
HIST1H4K	8362	broad.mit.edu	37	6	27799020	27799020	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr6:27799020G>A	ENST00000357549.2	-	1	285	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C		NM_003541.2	NP_003532.1	P62805	H4_HUMAN	histone cluster 1, H4k	96					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.R96C(1)		breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						TAGAGGGTGCGGCCCTGGCGC	0.587																																						uc003njr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(286-288)CGC>TGC		histone cluster 1, H4k							30.0	33.0	32.0					6																	27799020		2203	4297	6500	SO:0001583	missense	8362				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27799020G>A	X60483	CCDS4631.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197914	ENSG00000273542		"""Histones / Replication-dependent"""	4784	protein-coding gene	gene with protein product		602825	"""H4 histone family, member D"", ""histone 1, H4k"""	H4FD		9439656, 12408966	Standard	NM_003541		Approved	H4/d, H4F2iii, dJ160A22.1	uc003njr.3	P62805	OTTHUMG00000014488	ENST00000357549.2:c.286C>T	6.37:g.27799020G>A	ENSP00000350159:p.Arg96Cys						p.R96C	NM_003541	NP_003532	P62805	H4_HUMAN			1	286	-			96					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000357549.2	37	c.286C>T	CCDS4631.1	.	.	.	.	.	.	.	.	.	.	.	23.2	4.391803	0.83011	.	.	ENSG00000197914	ENST00000357549	.	.	.	4.14	4.14	0.48551	.	0.000000	0.56097	U	0.000034	T	0.69433	0.3110	.	.	.	0.52099	D	0.999949	.	.	.	.	.	.	T	0.75314	-0.3361	6	0.72032	D	0.01	.	15.7871	0.78315	0.0:0.0:1.0:0.0	.	.	.	.	C	96	.	ENSP00000350159:R96C	R	-	1	0	HIST1H4K	27906999	1.000000	0.71417	0.999000	0.59377	0.551000	0.35334	6.953000	0.75995	2.007000	0.58848	0.650000	0.86243	CGC		PASS	0.587	HIST1H4K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040156.1	NM_003541		3	83	3	83	---	---	---	---
OR2J2	26707	broad.mit.edu	37	6	29141629	29141629	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr6:29141629T>C	ENST00000377167.2	+	1	319	c.217T>C	c.(217-219)Tgc>Cgc	p.C73R		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C73R(1)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TCTGGATCTCTGCTACACCAC	0.478																																						uc011dlm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(217-219)TGC>CGC		olfactory receptor, family 2, subfamily J,							148.0	138.0	141.0					6																	29141629		2004	4210	6214	SO:0001583	missense	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29141629T>C		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.217T>C	6.37:g.29141629T>C	ENSP00000366372:p.Cys73Arg						p.C73R	NM_030905	NP_112167	O76002	OR2J2_HUMAN			1	319	+			73			Helical; Name=2; (Potential).		A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	ENST00000377167.2	37	c.217T>C	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	T	10.20	1.284562	0.23392	.	.	ENSG00000204700	ENST00000377167	T	0.01106	5.33	2.3	0.866	0.19079	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.05547	0.0146	H	0.97635	4.045	0.43942	D	0.996604	D	0.89917	1.0	D	0.91635	0.999	T	0.02617	-1.1133	9	0.87932	D	0	.	7.0532	0.25085	0.0:0.0:0.3171:0.6829	.	73	O76002	OR2J2_HUMAN	R	73	ENSP00000366372:C73R	ENSP00000366372:C73R	C	+	1	0	OR2J2	29249608	0.000000	0.05858	1.000000	0.80357	0.380000	0.30137	-0.106000	0.10890	1.039000	0.40074	0.172000	0.16884	TGC		PASS	0.478	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			78	300	78	300	---	---	---	---
C6orf15	29113	broad.mit.edu	37	6	31079319	31079319	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr6:31079319C>T	ENST00000259870.3	-	2	820	c.817G>A	c.(817-819)Ggg>Agg	p.G273R		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	273	Gly-rich.				extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.G273R(1)		endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						TTAATATTCCCCCAGCTGCCT	0.507																																						uc003nsk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(817-819)GGG>AGG		STG protein precursor							67.0	77.0	74.0					6																	31079319		1740	3396	5136	SO:0001583	missense	29113							g.chr6:31079319C>T	AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.817G>A	6.37:g.31079319C>T	ENSP00000259870:p.Gly273Arg						p.G273R	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN			2	817	-			273			Gly-rich.		B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Missense_Mutation	SNP	ENST00000259870.3	37	c.817G>A	CCDS4693.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712086	0.48517	.	.	ENSG00000204542	ENST00000259870	T	0.07114	3.22	4.19	2.39	0.29439	.	0.132432	0.34580	N	0.003859	T	0.02688	0.0081	L	0.27053	0.805	0.25751	N	0.985056	D	0.54047	0.964	P	0.45712	0.491	T	0.35919	-0.9769	10	0.87932	D	0	-8.5694	8.0269	0.30442	0.0:0.7955:0.0:0.2045	.	273	Q6UXA7	CF015_HUMAN	R	273	ENSP00000259870:G273R	ENSP00000259870:G273R	G	-	1	0	C6orf15	31187298	0.972000	0.33761	0.520000	0.27837	0.403000	0.30841	0.970000	0.29383	0.405000	0.25532	0.453000	0.30009	GGG		PASS	0.507	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	NM_014070		34	118	34	118	---	---	---	---
NOTCH4	4855	broad.mit.edu	37	6	32187380	32187380	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr6:32187380A>G	ENST00000375023.3	-	8	1637	c.1499T>C	c.(1498-1500)cTc>cCc	p.L500P		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	500	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.L500P(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGGCGGGCAGAGGCAGTGGAA	0.592																																						uc003obb.2																			1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(1498-1500)CTC>CCC		notch4 preproprotein							61.0	46.0	51.0					6																	32187380		1510	2709	4219	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32187380A>G		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1499T>C	6.37:g.32187380A>G	ENSP00000364163:p.Leu500Pro					NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Missense_Mutation_p.L500P	p.L500P	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			8	1638	-			500			EGF-like 12; calcium-binding (Potential).|Extracellular (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.1499T>C	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.734403	0.69189	.	.	ENSG00000204301	ENST00000375023	T	0.69435	-0.4	4.0	4.0	0.46444	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.200083	0.24957	N	0.034259	T	0.75406	0.3845	M	0.86864	2.845	0.80722	D	1	D;B	0.69078	0.997;0.346	D;B	0.69142	0.962;0.085	T	0.76000	-0.3119	10	0.31617	T	0.26	.	10.9263	0.47193	1.0:0.0:0.0:0.0	.	500;500	Q6P3V5;Q99466	.;NOTC4_HUMAN	P	500	ENSP00000364163:L500P	ENSP00000364163:L500P	L	-	2	0	NOTCH4	32295358	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.208000	0.77907	1.682000	0.51000	0.374000	0.22700	CTC		PASS	0.592	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			14	25	14	25	---	---	---	---
HLA-DQA1	3117	broad.mit.edu	37	6	32609223	32609223	+	Silent	SNP	G	G	A	rs9272697|rs546754435	byFrequency	TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr6:32609223G>A	ENST00000343139.5	+	2	321	c.219G>A	c.(217-219)gaG>gaA	p.E73E	HLA-DQA1_ENST00000374949.2_Silent_p.E73E|HLA-DQA1_ENST00000395363.1_Silent_p.E73E	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	73	Alpha-1.		V -> D.|V -> E (in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:03, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*01:06 and allele DQA1*01:07; dbSNP:rs3208105).|V -> L (in allele DQA1*02:01, allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)	p.E73E(1)		NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						GGTGGCCTGAGTTCAGCAAAT	0.502																																						uc003obr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(217-219)GAG>GAA		major histocompatibility complex, class II, DQ							99.0	89.0	93.0					6																	32609223		2030	3875	5905	SO:0001819	synonymous_variant	3117				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32609223G>A		CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	ENST00000343139.5:c.219G>A	6.37:g.32609223G>A						HLA-DQA1_uc003obs.2_RNA|HLA-DQA1_uc003obt.1_Silent_p.E73E|HLA-DQA1_uc003obu.2_5'Flank	p.E73E	NM_002122	NP_002113	P01909	DQA1_HUMAN			2	272	+			73		V -> D.|V -> L (in allele DQA1*02:01, allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03).	Alpha-1.|Extracellular (Potential).		O19630|O19706|P01907|P01908|P04225|P04226|P05536|P79553|Q06751|Q29876|Q29994|Q2Q6Y6|Q2Q6Y7|Q2Q6Y8|Q2WCM3|Q30064|Q30067|Q30068|Q30070|Q30071|Q30072|Q30073|Q30086|Q30101|Q5Y7D5|Q5Y7F5|Q6ICU6|Q6PR46|Q6QDB1|Q860W2|Q860W4|Q9BD37|Q9TPM3|Q9UM31	Silent	SNP	ENST00000343139.5	37	c.219G>A	CCDS4752.1	.	.	.	.	.	.	.	.	.	.	.	1.724	-0.495796	0.04291	.	.	ENSG00000196735	ENST00000486548	.	.	.	3.97	0.0954	0.14485	.	.	.	.	.	T	0.13372	0.0324	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32079	-0.9920	4	.	.	.	.	6.2782	0.20993	0.1684:0.0:0.569:0.2627	.	.	.	.	N	46	.	.	S	+	2	0	HLA-DQA1	32717201	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.123000	0.10611	-0.108000	0.12066	-1.357000	0.01221	AGT		PASS	0.502	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076176.3	NM_002122		40	74	40	74	---	---	---	---
TBC1D22B	55633	broad.mit.edu	37	6	37284591	37284591	+	Silent	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr6:37284591G>A	ENST00000373491.3	+	11	1424	c.1278G>A	c.(1276-1278)ctG>ctA	p.L426L		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	426	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)	p.L426L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			CCATCCGCCTGTGGGACACAT	0.552																																						uc003onn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1276-1278)CTG>CTA		TBC1 domain family, member 22B							112.0	107.0	109.0					6																	37284591		2203	4300	6503	SO:0001819	synonymous_variant	55633					intracellular	Rab GTPase activator activity	g.chr6:37284591G>A	AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 197"""	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.1278G>A	6.37:g.37284591G>A						TBC1D22B_uc010jwt.2_RNA|TBC1D22B_uc003ono.1_Silent_p.L84L|TBC1D22B_uc003onp.2_Silent_p.L84L	p.L426L	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		11	1424	+			426			Rab-GAP TBC.		A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Silent	SNP	ENST00000373491.3	37	c.1278G>A	CCDS4832.1																																																																																				PASS	0.552	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040402.1	NM_017772		60	152	60	152	---	---	---	---
GLP1R	2740	broad.mit.edu	37	6	39047418	39047418	+	Silent	SNP	C	C	T	rs12212036	byFrequency	TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr6:39047418C>T	ENST00000373256.4	+	11	1165	c.1122C>T	c.(1120-1122)caC>caT	p.H374H		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	374					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)	p.H374H(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	TGGACGAGCACGCCCGGGGGA	0.562													C|||	4	0.000798722	0.0	0.0043	5008	,	,		19612	0.0		0.001	False		,,,				2504	0.0					uc003ooj.3																			1	Substitution - coding silent(1)		lung(1)	lung(3)|breast(1)|pancreas(1)	5						c.(1120-1122)CAC>CAT		glucagon-like peptide 1 receptor precursor	Exenatide(DB01276)|Glucagon recombinant(DB00040)	C		6,4400	11.4+/-27.6	0,6,2197	92.0	89.0	90.0		1122	-4.1	1.0	6	dbSNP_120	90	37,8563	24.6+/-71.5	0,37,4263	no	coding-synonymous	GLP1R	NM_002062.3		0,43,6460	TT,TC,CC		0.4302,0.1362,0.3306		374/464	39047418	43,12963	2203	4300	6503	SO:0001819	synonymous_variant	2740				activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled	g.chr6:39047418C>T		CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"""GPCR / Class B : Glucagon receptors"""	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.1122C>T	6.37:g.39047418C>T						GLP1R_uc003ooh.2_RNA|GLP1R_uc003ooi.2_RNA	p.H374H	NM_002062	NP_002053	P43220	GLP1R_HUMAN			11	1182	+			374			Extracellular (Potential).		Q2M229|Q99669	Silent	SNP	ENST00000373256.4	37	c.1122C>T	CCDS4839.1																																																																																				PASS	0.562	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1			21	94	21	94	---	---	---	---
TREML4	285852	broad.mit.edu	37	6	41197820	41197820	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr6:41197820G>A	ENST00000341495.2	+	4	570	c.466G>A	c.(466-468)Ggg>Agg	p.G156R	TREML4_ENST00000448827.2_Missense_Mutation_p.G156R	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	156						extracellular region (GO:0005576)		p.G156R(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					TTCTCCAGAGGGGACCTCTGG	0.537																																						uc003oqc.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(466-468)GGG>AGG		triggering receptor expressed on myeloid							124.0	116.0	118.0					6																	41197820		2203	4300	6503	SO:0001583	missense	285852					extracellular region		g.chr6:41197820G>A	AF534826	CCDS34446.1	6p21.1	2013-01-11			ENSG00000188056	ENSG00000188056		"""Immunoglobulin superfamily / V-set domain containing"""	30807	protein-coding gene	gene with protein product	"""TREM like transcript 4"""	614664				12645956	Standard	NM_198153		Approved	TLT4	uc003oqc.3	Q6UXN2	OTTHUMG00000016408	ENST00000341495.2:c.466G>A	6.37:g.41197820G>A	ENSP00000342570:p.Gly156Arg					TREML4_uc003oqd.2_RNA	p.G156R	NM_198153	NP_937796	Q6UXN2	TRML4_HUMAN			4	570	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		156					B7ZL92	Missense_Mutation	SNP	ENST00000341495.2	37	c.466G>A	CCDS34446.1	.	.	.	.	.	.	.	.	.	.	.	17.57	3.423541	0.62733	.	.	ENSG00000188056	ENST00000341495;ENST00000448827	T;T	0.06768	3.26;3.26	3.47	-0.876	0.10624	.	.	.	.	.	T	0.01061	0.0035	N	0.14661	0.345	0.09310	N	1	P	0.37015	0.578	B	0.28305	0.088	T	0.47484	-0.9114	9	0.25106	T	0.35	0.0259	6.5899	0.22642	0.5983:0.0:0.4017:0.0	.	156	Q6UXN2	TRML4_HUMAN	R	156	ENSP00000342570:G156R;ENSP00000418078:G156R	ENSP00000342570:G156R	G	+	1	0	TREML4	41305798	0.002000	0.14202	0.001000	0.08648	0.947000	0.59692	-0.373000	0.07494	-0.183000	0.10585	0.591000	0.81541	GGG		PASS	0.537	TREML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043873.2			57	144	57	144	---	---	---	---
ZNF318	24149	broad.mit.edu	37	6	43307502	43307502	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr6:43307502C>T	ENST00000361428.2	-	10	4311	c.4234G>A	c.(4234-4236)Ggg>Agg	p.G1412R	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1412					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.G1412R(2)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ACCTCTTCCCCTCCAAATGCT	0.458																																						uc003oux.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7						c.(4234-4236)GGG>AGG		zinc finger protein 318							63.0	62.0	62.0					6																	43307502		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43307502C>T	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.4234G>A	6.37:g.43307502C>T	ENSP00000354964:p.Gly1412Arg					ZNF318_uc003ouw.2_Intron	p.G1412R	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	4312	-			1412					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.4234G>A	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671215	0.67814	.	.	ENSG00000171467	ENST00000361428	T	0.44881	0.91	5.45	5.45	0.79879	.	0.160214	0.43579	D	0.000541	T	0.46833	0.1413	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.51888	-0.8648	10	0.66056	D	0.02	-14.5425	19.2881	0.94087	0.0:1.0:0.0:0.0	.	1412	Q5VUA4	ZN318_HUMAN	R	1412	ENSP00000354964:G1412R	ENSP00000354964:G1412R	G	-	1	0	ZNF318	43415480	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.978000	0.56881	2.567000	0.86603	0.655000	0.94253	GGG		PASS	0.458	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		22	82	22	82	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51491894	51491894	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr6:51491894G>T	ENST00000371117.3	-	66	11961	c.11686C>A	c.(11686-11688)Cct>Act	p.P3896T		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3896					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.P3896T(1)		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)					TGGGATTCAGGAATCTCTTCA	0.393																																						uc003pah.1																			1	Substitution - Missense(1)		lung(1)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(11686-11688)CCT>ACT		fibrocystin isoform 1							219.0	224.0	222.0					6																	51491894		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.chr6:51491894G>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.11686C>A	6.37:g.51491894G>T	ENSP00000360158:p.Pro3896Thr						p.P3896T	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			66	11962	-	Lung NSC(77;0.0605)		3896			Cytoplasmic (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.11686C>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	2.035	-0.421372	0.04734	.	.	ENSG00000170927	ENST00000371117	D	0.85088	-1.94	5.19	-1.76	0.08006	.	1.045120	0.07557	N	0.916359	T	0.45155	0.1328	N	0.08118	0	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.29305	-1.0016	10	0.41790	T	0.15	.	2.9399	0.05826	0.4321:0.0:0.2663:0.3016	.	3896	P08F94	PKHD1_HUMAN	T	3896	ENSP00000360158:P3896T	ENSP00000360158:P3896T	P	-	1	0	PKHD1	51599853	0.869000	0.29996	0.041000	0.18516	0.086000	0.17979	0.323000	0.19593	-0.347000	0.08299	-0.302000	0.09304	CCT		PASS	0.393	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		57	271	57	271	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51892634	51892634	+	Silent	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr6:51892634G>T	ENST00000371117.3	-	31	3896	c.3621C>A	c.(3619-3621)tcC>tcA	p.S1207S	PKHD1_ENST00000340994.4_Silent_p.S1207S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1207	IPT/TIG 7.				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.S1207S(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)					CACCCAGCAGGGACCCACAGC	0.428																																						uc003pah.1																			2	Substitution - coding silent(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(3619-3621)TCC>TCA		fibrocystin isoform 1							64.0	63.0	63.0					6																	51892634		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:51892634G>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.3621C>A	6.37:g.51892634G>T						PKHD1_uc003pai.2_Silent_p.S1207S	p.S1207S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			31	3897	-	Lung NSC(77;0.0605)		1207			Extracellular (Potential).|IPT/TIG 7.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.3621C>A	CCDS4935.1																																																																																				PASS	0.428	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		17	70	17	70	---	---	---	---
PRIM2	5558	broad.mit.edu	37	6	57472440	57472440	+	3'UTR	SNP	A	A	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr6:57472440A>T	ENST00000389488.2	+	0	1316				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.Q410L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		GGGATAAGCCAGGTAGGTCAT	0.438																																						uc003pdx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1228-1230)CAG>CTG		DNA primase polypeptide 2							166.0	155.0	158.0					6																	57472440		2012	4192	6204	SO:0001624	3_prime_UTR_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57472440A>T		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1313A>T	6.37:g.57472440A>T							p.Q410L	NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	13	1316	+			410					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	ENST00000389488.2	37	c.1229A>T																																																																																					PASS	0.438	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3	NM_000947		8	78	8	78	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75875302	75875302	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr6:75875302C>G	ENST00000322507.8	-	14	3213	c.2904G>C	c.(2902-2904)gaG>gaC	p.E968D	COL12A1_ENST00000483888.2_Missense_Mutation_p.E968D|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.E968D	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	968	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.E968D(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TGTATTTGGTCTCTGGCTGCA	0.413																																						uc003phs.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(2902-2904)GAG>GAC		collagen, type XII, alpha 1 long isoform							134.0	130.0	131.0					6																	75875302		1890	4114	6004	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75875302C>G	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2904G>C	6.37:g.75875302C>G	ENSP00000325146:p.Glu968Asp					COL12A1_uc003pht.2_Intron	p.E968D	NM_004370	NP_004361	Q99715	COCA1_HUMAN			14	3070	-			968			Fibronectin type-III 6.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.2904G>C	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.962073	0.53400	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.56103	0.48;0.48;0.48	5.55	4.67	0.58626	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.44953	0.1318	L	0.39692	1.235	0.45250	D	0.998256	D	0.76494	0.999	D	0.83275	0.996	T	0.40869	-0.9540	10	0.08179	T	0.78	.	10.0853	0.42415	0.0:0.8508:0.0:0.1492	.	968	Q99715	COCA1_HUMAN	D	968	ENSP00000325146:E968D;ENSP00000412864:E968D;ENSP00000421216:E968D	ENSP00000325146:E968D	E	-	3	2	COL12A1	75932022	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.517000	0.35867	2.597000	0.87782	0.655000	0.94253	GAG		PASS	0.413	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		94	200	94	200	---	---	---	---
GABRR1	2569	broad.mit.edu	37	6	89890084	89890084	+	Nonsense_Mutation	SNP	G	G	T	rs570984233		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr6:89890084G>T	ENST00000454853.2	-	9	1183	c.1073C>A	c.(1072-1074)tCg>tAg	p.S358*	GABRR1_ENST00000369451.3_Nonsense_Mutation_p.S271*|GABRR1_ENST00000435811.1_Nonsense_Mutation_p.S341*	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	358					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.S352*(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	CTCCAGCACCGAGAGGAACAC	0.567																																						uc003pna.2																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(1072-1074)TCG>TAG		gamma-aminobutyric acid (GABA) receptor, rho 1	Picrotoxin(DB00466)						146.0	111.0	123.0					6																	89890084		2203	4300	6503	SO:0001587	stop_gained	2569				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|GABA-A receptor activity	g.chr6:89890084G>T		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.1073C>A	6.37:g.89890084G>T	ENSP00000412673:p.Ser358*					GABRR1_uc011dzv.1_Nonsense_Mutation_p.S335*	p.S358*	NM_002042	NP_002033	P24046	GBRR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00917)	9	1528	-		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	358			Helical; (Probable).		A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Nonsense_Mutation	SNP	ENST00000454853.2	37	c.1073C>A	CCDS5019.2	.	.	.	.	.	.	.	.	.	.	G	41	9.128207	0.99075	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.3995	18.4709	0.90774	0.0:0.0:1.0:0.0	.	.	.	.	X	358;341;271;271	.	.	S	-	2	0	GABRR1	89946803	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.331000	0.79229	0.557000	0.71058	TCG		PASS	0.567	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2			26	32	26	32	---	---	---	---
BACH2	60468	broad.mit.edu	37	6	90718357	90718357	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr6:90718357C>G	ENST00000257749.4	-	6	914	c.207G>C	c.(205-207)caG>caC	p.Q69H	BACH2_ENST00000537989.1_Missense_Mutation_p.Q69H|BACH2_ENST00000343122.3_Missense_Mutation_p.Q69H	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	69	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.Q69H(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CATTTTTTGTCTGTCCAACCA	0.478																																						uc011eab.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(1)|lung(1)|skin(1)	6						c.(205-207)CAG>CAC		BTB and CNC homology 1, basic leucine zipper							68.0	68.0	68.0					6																	90718357		2203	4300	6503	SO:0001583	missense	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90718357C>G	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.207G>C	6.37:g.90718357C>G	ENSP00000257749:p.Gln69His					BACH2_uc003pnw.2_Missense_Mutation_p.Q69H|BACH2_uc010kch.2_Missense_Mutation_p.Q69H	p.Q69H	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	6	1016	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	69			BTB.		E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	c.207G>C	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316045	0.60524	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122;ENST00000406998;ENST00000453877	T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96	5.33	4.45	0.53987	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.056599	0.64402	D	0.000001	T	0.22820	0.0551	L	0.31157	0.91	0.42879	D	0.994168	D	0.69078	0.997	D	0.76575	0.988	T	0.04065	-1.0980	10	0.54805	T	0.06	-0.181	14.3419	0.66633	0.0:0.9276:0.0:0.0724	.	69	Q9BYV9	BACH2_HUMAN	H	69	ENSP00000257749:Q69H;ENSP00000437473:Q69H;ENSP00000345642:Q69H;ENSP00000384145:Q69H;ENSP00000397668:Q69H	ENSP00000257749:Q69H	Q	-	3	2	BACH2	90775078	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	0.523000	0.22925	1.230000	0.43646	0.591000	0.81541	CAG		PASS	0.478	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		4	91	4	91	---	---	---	---
BVES	11149	broad.mit.edu	37	6	105573294	105573294	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr6:105573294C>A	ENST00000314641.5	-	4	727	c.511G>T	c.(511-513)Gac>Tac	p.D171Y	BVES_ENST00000336775.5_Missense_Mutation_p.D171Y|BVES_ENST00000446408.2_Missense_Mutation_p.D171Y	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	171					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)	p.D171Y(1)		NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				CTCAGACGGTCATCAACTGAG	0.408																																						uc003pqw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(511-513)GAC>TAC		blood vessel epicardial substance isoform 5							157.0	158.0	158.0					6																	105573294		2203	4300	6503	SO:0001583	missense	11149				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	g.chr6:105573294C>A	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.511G>T	6.37:g.105573294C>A	ENSP00000313172:p.Asp171Tyr					BVES_uc003pqx.2_Missense_Mutation_p.D171Y|BVES_uc003pqy.2_Missense_Mutation_p.D171Y	p.D171Y	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN			4	668	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	171			Cytoplasmic (Potential).		A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	c.511G>T	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571958	0.86542	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.44083	0.93;0.93;0.93	5.76	5.76	0.90799	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.131249	0.64402	D	0.000002	T	0.58323	0.2114	M	0.65975	2.015	0.80722	D	1	D	0.69078	0.997	D	0.67103	0.949	T	0.59867	-0.7373	10	0.72032	D	0.01	-15.1311	19.9384	0.97150	0.0:1.0:0.0:0.0	.	171	Q8NE79	POPD1_HUMAN	Y	171	ENSP00000313172:D171Y;ENSP00000337259:D171Y;ENSP00000397310:D171Y	ENSP00000313172:D171Y	D	-	1	0	BVES	105679987	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.388000	0.79795	2.716000	0.92895	0.655000	0.94253	GAC		PASS	0.408	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147		132	173	132	173	---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117641146	117641146	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr6:117641146C>A	ENST00000368508.3	-	36	6023	c.5825G>T	c.(5824-5826)cGg>cTg	p.R1942L	ROS1_ENST00000368507.3_Missense_Mutation_p.R1936L|GOPC_ENST00000467125.1_5'UTR	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1942					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R1942L(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CAGTTTTTCCCGAGGGAAGGC	0.463			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(5824-5826)CGG>CTG		proto-oncogene c-ros-1 protein precursor							114.0	106.0	109.0					6																	117641146		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117641146C>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.5825G>T	6.37:g.117641146C>A	ENSP00000357494:p.Arg1942Leu					ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Missense_Mutation_p.R268L	p.R1942L	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	36	6024	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1942			Cytoplasmic (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.5825G>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797898	0.90538	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.88509	-2.39;-2.39	5.65	4.77	0.60923	.	0.000000	0.64402	D	0.000020	D	0.91482	0.7311	L	0.55834	1.745	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.91715	0.5384	10	0.72032	D	0.01	.	14.6283	0.68638	0.0:0.9264:0.0:0.0736	.	1942	P08922	ROS1_HUMAN	L	1942;1936	ENSP00000357494:R1942L;ENSP00000357493:R1936L	ENSP00000357493:R1936L	R	-	2	0	ROS1	117747839	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.934000	0.63491	2.824000	0.97209	0.655000	0.94253	CGG		PASS	0.463	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			56	66	56	66	---	---	---	---
THEMIS	387357	broad.mit.edu	37	6	128134171	128134171	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr6:128134171G>T	ENST00000368248.2	-	4	1763	c.1615C>A	c.(1615-1617)Caa>Aaa	p.Q539K	THEMIS_ENST00000537166.1_Missense_Mutation_p.Q504K|THEMIS_ENST00000368250.1_Missense_Mutation_p.Q460K|THEMIS_ENST00000543064.1_Missense_Mutation_p.Q539K	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	539					negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q539K(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ATGTAATATTGCTCTTCAGTG	0.463																																						uc003qbi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1615-1617)CAA>AAA		thymocyte selection pathway associated isoform							96.0	96.0	96.0					6																	128134171		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134171G>T	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1615C>A	6.37:g.128134171G>T	ENSP00000357231:p.Gln539Lys					THEMIS_uc010kfa.2_Missense_Mutation_p.Q442K|THEMIS_uc011ebt.1_Missense_Mutation_p.Q539K|THEMIS_uc010kfb.2_Missense_Mutation_p.Q504K	p.Q539K	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN			5	1934	-			539					A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.1615C>A	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	G	5.393	0.257725	0.10239	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.16897	2.31;2.33;2.31;2.31	5.9	5.01	0.66863	.	0.311666	0.33005	N	0.005400	T	0.11196	0.0273	M	0.61703	1.905	0.24354	N	0.994906	P;P	0.51933	0.949;0.666	B;B	0.43052	0.406;0.162	T	0.05801	-1.0863	10	0.35671	T	0.21	-12.4782	16.0397	0.80654	0.0:0.3743:0.6257:0.0	.	539;539	F5H1J9;Q8N1K5	.;THMS1_HUMAN	K	460;539;539;504	ENSP00000357233:Q460K;ENSP00000439594:Q539K;ENSP00000357231:Q539K;ENSP00000439863:Q504K	ENSP00000357231:Q539K	Q	-	1	0	THEMIS	128175864	0.998000	0.40836	0.839000	0.33178	0.942000	0.58702	1.741000	0.38238	1.438000	0.47492	0.563000	0.77884	CAA		PASS	0.463	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		85	94	85	94	---	---	---	---
TAAR5	9038	broad.mit.edu	37	6	132910096	132910096	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr6:132910096C>A	ENST00000258034.2	-	1	781	c.730G>T	c.(730-732)Gcc>Tcc	p.A244S		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	244					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)	p.A244S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		TCATGCTTGGCAGCCCCAGCC	0.527																																						uc003qdk.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(730-732)GCC>TCC		trace amine associated receptor 5							48.0	48.0	48.0					6																	132910096		2203	4300	6503	SO:0001583	missense	9038				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr6:132910096C>A	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.730G>T	6.37:g.132910096C>A	ENSP00000258034:p.Ala244Ser						p.A244S	NM_003967	NP_003958	O14804	TAAR5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)	1	782	-	Breast(56;0.112)		244			Cytoplasmic (Potential).		D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	ENST00000258034.2	37	c.730G>T	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	C	4.558	0.103578	0.08731	.	.	ENSG00000135569	ENST00000258034	T	0.71461	-0.57	5.58	2.38	0.29361	GPCR, rhodopsin-like superfamily (1);	0.423438	0.21007	N	0.081751	T	0.17152	0.0412	N	0.03071	-0.42	0.09310	N	1	B	0.14805	0.011	B	0.18263	0.021	T	0.27262	-1.0079	10	0.15499	T	0.54	-3.0798	4.175	0.10348	0.5104:0.3016:0.1077:0.0803	.	244	O14804	TAAR5_HUMAN	S	244	ENSP00000258034:A244S	ENSP00000258034:A244S	A	-	1	0	TAAR5	132951789	0.000000	0.05858	0.998000	0.56505	0.972000	0.66771	0.208000	0.17415	0.760000	0.33108	0.655000	0.94253	GCC		PASS	0.527	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		43	42	43	42	---	---	---	---
EYA4	2070	broad.mit.edu	37	6	133789710	133789710	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr6:133789710C>G	ENST00000367895.5	+	11	1275	c.811C>G	c.(811-813)Cca>Gca	p.P271A	EYA4_ENST00000452339.2_Missense_Mutation_p.P217A|EYA4_ENST00000531901.1_Missense_Mutation_p.P271A|EYA4_ENST00000431403.2_Missense_Mutation_p.P271A|EYA4_ENST00000355286.6_Missense_Mutation_p.P248A|EYA4_ENST00000355167.3_Missense_Mutation_p.P271A|EYA4_ENST00000430974.2_Missense_Mutation_p.P217A|EYA4_ENST00000525849.1_Missense_Mutation_p.P248A	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	271					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)	p.P271A(2)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TCAGGATTATCCATCCTATAC	0.383																																					Melanoma(57;398 1237 3528 4702 7415)	uc003qec.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)	2						c.(811-813)CCA>GCA		eyes absent 4 isoform a							103.0	95.0	98.0					6																	133789710		2203	4299	6502	SO:0001583	missense	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133789710C>G	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.811C>G	6.37:g.133789710C>G	ENSP00000356870:p.Pro271Ala					EYA4_uc011ecq.1_Missense_Mutation_p.P217A|EYA4_uc011ecr.1_Missense_Mutation_p.P217A|EYA4_uc003qed.3_Missense_Mutation_p.P271A|EYA4_uc003qee.3_Missense_Mutation_p.P248A|EYA4_uc011ecs.1_Missense_Mutation_p.P271A|uc003qef.1_Intron	p.P271A	NM_004100	NP_004091	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	11	1269	+	Colorectal(23;0.221)		271					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.811C>G	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730493	0.48939	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87	5.49	4.62	0.57501	.	0.047862	0.85682	D	0.000000	T	0.76601	0.4010	M	0.69823	2.125	0.80722	D	1	B;B;B;B;B;B	0.22683	0.0;0.001;0.073;0.073;0.001;0.001	B;B;B;B;B;B	0.20955	0.007;0.008;0.032;0.032;0.007;0.007	T	0.76517	-0.2930	10	0.44086	T	0.13	-9.6658	12.8943	0.58091	0.0:0.8632:0.0:0.1368	.	271;217;217;248;271;271	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	A	217;217;271;271;248;271;248;271	ENSP00000395916:P217A;ENSP00000388670:P217A;ENSP00000356870:P271A;ENSP00000347294:P271A;ENSP00000347434:P248A;ENSP00000432770:P271A;ENSP00000433219:P248A;ENSP00000404558:P271A	ENSP00000347294:P271A	P	+	1	0	EYA4	133831403	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.683000	0.54663	1.439000	0.47511	0.655000	0.94253	CCA		PASS	0.383	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		68	76	68	76	---	---	---	---
EYA4	2070	broad.mit.edu	37	6	133836552	133836552	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr6:133836552C>G	ENST00000367895.5	+	17	2059	c.1595C>G	c.(1594-1596)tCt>tGt	p.S532C	EYA4_ENST00000452339.2_Missense_Mutation_p.S478C|EYA4_ENST00000531901.1_Missense_Mutation_p.S538C|EYA4_ENST00000431403.2_Missense_Mutation_p.S532C|EYA4_ENST00000355286.6_Missense_Mutation_p.S509C|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000355167.3_Missense_Mutation_p.S532C|EYA4_ENST00000430974.2_Missense_Mutation_p.S484C|EYA4_ENST00000525849.1_Missense_Mutation_p.S509C	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	532					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)	p.S532C(2)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GCACTTAAGTCTTTATCAATT	0.388																																					Melanoma(57;398 1237 3528 4702 7415)	uc003qec.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)	2						c.(1594-1596)TCT>TGT		eyes absent 4 isoform a							171.0	166.0	168.0					6																	133836552		2203	4300	6503	SO:0001583	missense	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133836552C>G	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1595C>G	6.37:g.133836552C>G	ENSP00000356870:p.Ser532Cys					EYA4_uc011ecq.1_Missense_Mutation_p.S478C|EYA4_uc011ecr.1_Missense_Mutation_p.S484C|EYA4_uc003qed.3_Missense_Mutation_p.S532C|EYA4_uc003qee.3_Missense_Mutation_p.S509C|EYA4_uc011ecs.1_Missense_Mutation_p.S538C|uc003qeg.1_Intron	p.S532C	NM_004100	NP_004091	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	17	2053	+	Colorectal(23;0.221)		532					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.1595C>G	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271625	0.59649	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	T;T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	5.73	5.73	0.89815	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	T	0.79405	0.4440	N	0.20574	0.59	0.80722	D	1	B;B;D;D;B;B	0.89917	0.014;0.032;1.0;1.0;0.032;0.014	B;B;D;D;B;B	0.87578	0.03;0.044;0.998;0.998;0.03;0.03	T	0.75269	-0.3377	10	0.22706	T	0.39	-16.843	20.2602	0.98440	0.0:1.0:0.0:0.0	.	538;484;478;509;532;532	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	C	478;484;532;532;509;538;509;532	ENSP00000395916:S478C;ENSP00000388670:S484C;ENSP00000356870:S532C;ENSP00000347294:S532C;ENSP00000347434:S509C;ENSP00000432770:S538C;ENSP00000433219:S509C;ENSP00000404558:S532C	ENSP00000347294:S532C	S	+	2	0	EYA4	133878245	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.776000	0.85560	2.861000	0.98227	0.655000	0.94253	TCT		PASS	0.388	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		86	116	86	116	---	---	---	---
SLC2A12	154091	broad.mit.edu	37	6	134349793	134349793	+	Silent	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr6:134349793C>A	ENST00000275230.5	-	2	1325	c.1170G>T	c.(1168-1170)gtG>gtT	p.V390V		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	390					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.V390V(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GTCCATAAATCACAGACTCAT	0.458																																					Melanoma(122;1663 1672 14489 35294 41228)	uc003qem.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1168-1170)GTG>GTT		solute carrier family 2 (facilitated glucose							152.0	143.0	146.0					6																	134349793		2203	4300	6503	SO:0001819	synonymous_variant	154091					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity	g.chr6:134349793C>A	AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"""Solute carriers"""	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.1170G>T	6.37:g.134349793C>A							p.V390V	NM_145176	NP_660159	Q8TD20	GTR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)	2	1341	-	Breast(56;0.214)|Colorectal(23;0.221)		390			Extracellular (Potential).		B3KV17|Q7Z6U3|Q96MR8	Silent	SNP	ENST00000275230.5	37	c.1170G>T	CCDS5169.1																																																																																				PASS	0.458	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1			4	201	4	201	---	---	---	---
GPR126	57211	broad.mit.edu	37	6	142726876	142726876	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr6:142726876C>T	ENST00000230173.6	+	15	2655	c.2179C>T	c.(2179-2181)Cca>Tca	p.P727S	GPR126_ENST00000296932.8_Missense_Mutation_p.P699S|GPR126_ENST00000367609.3_Missense_Mutation_p.P727S|GPR126_ENST00000367608.2_Missense_Mutation_p.P699S	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	727					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P727S(1)|p.P698S(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AATTTTGCCTCCAAACTTACT	0.368																																						uc010khc.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2179-2181)CCA>TCA		G protein-coupled receptor 126 alpha 1							107.0	101.0	103.0					6																	142726876		1842	4093	5935	SO:0001583	missense	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142726876C>T	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.2179C>T	6.37:g.142726876C>T	ENSP00000230173:p.Pro727Ser					GPR126_uc010khd.2_Missense_Mutation_p.P699S|GPR126_uc010khe.2_Missense_Mutation_p.P727S|GPR126_uc010khf.2_Missense_Mutation_p.P699S	p.P727S	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	15	2590	+	Breast(32;0.176)		727			Extracellular (Potential).		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	c.2179C>T	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.571832	0.28003	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.24350	1.86;1.87;1.86;1.86	5.79	4.91	0.64330	.	0.200024	0.35646	N	0.003066	T	0.10121	0.0248	L	0.45581	1.43	0.36763	D	0.883371	B;B;B;B	0.20459	0.045;0.045;0.045;0.027	B;B;B;B	0.23419	0.046;0.046;0.046;0.021	T	0.08472	-1.0720	10	0.22706	T	0.39	.	9.5471	0.39288	0.0:0.6566:0.2729:0.0705	.	699;727;699;727	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	S	727;699;699;727	ENSP00000230173:P727S;ENSP00000356580:P699S;ENSP00000296932:P699S;ENSP00000356581:P727S	ENSP00000230173:P727S	P	+	1	0	GPR126	142768569	0.989000	0.36119	1.000000	0.80357	0.985000	0.73830	0.492000	0.22435	1.409000	0.46915	-0.175000	0.13238	CCA		PASS	0.368	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			22	21	22	21	---	---	---	---
PARK2	5071	broad.mit.edu	37	6	161781192	161781192	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr6:161781192C>G	ENST00000366898.1	-	11	1315	c.1213G>C	c.(1213-1215)Gca>Cca	p.A405P	PARK2_ENST00000338468.3_Missense_Mutation_p.A214P|PARK2_ENST00000366894.1_Missense_Mutation_p.A214P|PARK2_ENST00000366896.1_Missense_Mutation_p.A256P|PARK2_ENST00000366897.1_Missense_Mutation_p.A377P	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	405	REP. {ECO:0000250}.				adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)	p.A405P(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TTGGAGGCTGCTTCCCAACGA	0.512																																						uc003qtx.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1213-1215)GCA>CCA		parkin isoform 1							200.0	188.0	192.0					6																	161781192		2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:161781192C>G		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.1213G>C	6.37:g.161781192C>G	ENSP00000355865:p.Ala405Pro					PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Missense_Mutation_p.A214P|PARK2_uc003qtw.3_Intron|PARK2_uc003qty.3_Missense_Mutation_p.A377P|PARK2_uc003qtz.3_Missense_Mutation_p.A256P|PARK2_uc011egf.1_Missense_Mutation_p.A79P	p.A405P	NM_004562	NP_004553	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	11	1347	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	405					A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.1213G>C	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.349457	0.41599	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468	D;D;D;D;D	0.93659	-2.93;-3.06;-3.26;-2.65;-2.65	4.89	4.02	0.46733	Zinc finger, C6HC-type (1);	0.213578	0.39909	N	0.001230	D	0.84110	0.5400	L	0.38175	1.15	0.80722	D	1	B;B;B	0.30526	0.001;0.283;0.283	B;B;B	0.28465	0.001;0.09;0.09	D	0.83678	0.0170	10	0.62326	D	0.03	.	12.6452	0.56731	0.0:0.8337:0.1663:0.0	.	256;377;405	Q5VVX3;Q5VVX4;O60260	.;.;PRKN2_HUMAN	P	405;377;256;214;214	ENSP00000355865:A405P;ENSP00000355863:A377P;ENSP00000355862:A256P;ENSP00000355860:A214P;ENSP00000343589:A214P	ENSP00000343589:A214P	A	-	1	0	PARK2	161701182	0.984000	0.35163	0.844000	0.33320	0.677000	0.39632	2.248000	0.43160	1.032000	0.39892	0.643000	0.83706	GCA		PASS	0.512	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			61	82	61	82	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21826351	21826351	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:21826351G>A	ENST00000409508.3	+	59	9738	c.9707G>A	c.(9706-9708)cGa>cAa	p.R3236Q	DNAH11_ENST00000328843.6_Missense_Mutation_p.R3243Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3243	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R3243Q(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CCCAAAGACCGAAGTTGGAAA	0.488									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(9727-9729)CGA>CAA		dynein, axonemal, heavy chain 11							155.0	150.0	151.0					7																	21826351		1906	4126	6032	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21826351G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.9707G>A	7.37:g.21826351G>A	ENSP00000475939:p.Arg3236Gln						p.R3243Q	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			60	9759	+			3243			Stalk (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.9728G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.278085	0.95459	.	.	ENSG00000105877	ENST00000328843	T	0.77098	-1.07	6.03	6.03	0.97812	Dynein heavy chain, coiled coil stalk (1);	0.116388	0.64402	D	0.000019	D	0.83626	0.5295	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77787	-0.2457	9	0.12430	T	0.62	.	14.6872	0.69057	0.0706:0.0:0.9294:0.0	.	3243	Q96DT5	DYH11_HUMAN	Q	3243	ENSP00000330671:R3243Q	ENSP00000330671:R3243Q	R	+	2	0	DNAH11	21792876	0.974000	0.33945	1.000000	0.80357	0.999000	0.98932	3.767000	0.55288	2.861000	0.98227	0.655000	0.94253	CGA		PASS	0.488	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		10	259	10	259	---	---	---	---
CDCA7L	55536	broad.mit.edu	37	7	21946241	21946241	+	Missense_Mutation	SNP	G	G	A	rs369952841		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:21946241G>A	ENST00000406877.3	-	5	977	c.698C>T	c.(697-699)gCg>gTg	p.A233V	CDCA7L_ENST00000356195.5_Missense_Mutation_p.A199V|CDCA7L_ENST00000373934.4_Missense_Mutation_p.A187V|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	233	MYC-binding.				positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.A233V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						GTTCAATTCCGCCAATAACTG	0.403																																						uc010kuk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(697-699)GCG>GTG		cell division cycle associated 7-like isoform 1							88.0	90.0	89.0					7																	21946241		2203	4300	6503	SO:0001583	missense	55536				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr7:21946241G>A		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.698C>T	7.37:g.21946241G>A	ENSP00000383986:p.Ala233Val					CDCA7L_uc003sve.3_Missense_Mutation_p.A199V|CDCA7L_uc010kul.2_Missense_Mutation_p.A187V|CDCA7L_uc003svf.3_Missense_Mutation_p.A232V|CDCA7L_uc011jyk.1_Missense_Mutation_p.A233V	p.A233V	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN			5	818	-			233			MYC-binding.		A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	c.698C>T	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	G	33	5.229854	0.95173	.	.	ENSG00000164649	ENST00000356195;ENST00000406877;ENST00000373934	T;T;T	0.63417	0.04;-0.0;-0.04	5.82	5.82	0.92795	.	0.055294	0.64402	D	0.000001	T	0.80374	0.4611	M	0.73962	2.25	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74674	0.963;0.984;0.96;0.984	T	0.81245	-0.1020	10	0.87932	D	0	-4.739	20.0953	0.97838	0.0:0.0:1.0:0.0	.	233;187;233;232	A8K8X5;C9K0Y1;Q96GN5;Q96GN5-2	.;.;CDA7L_HUMAN;.	V	199;233;187	ENSP00000348523:A199V;ENSP00000383986:A233V;ENSP00000363045:A187V	ENSP00000348523:A199V	A	-	2	0	CDCA7L	21912766	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	8.829000	0.92055	2.767000	0.95098	0.655000	0.94253	GCG		PASS	0.403	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		6	151	6	151	---	---	---	---
OSBPL3	26031	broad.mit.edu	37	7	24854819	24854819	+	Silent	SNP	A	A	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:24854819A>G	ENST00000313367.2	-	19	2482	c.2031T>C	c.(2029-2031)ttT>ttC	p.F677F	OSBPL3_ENST00000396431.1_Silent_p.F646F|OSBPL3_ENST00000352860.1_Silent_p.F646F|OSBPL3_ENST00000409069.1_Silent_p.F610F|OSBPL3_ENST00000396429.1_Silent_p.F641F|OSBPL3_ENST00000487020.1_5'Flank|OSBPL3_ENST00000431825.2_Silent_p.F610F|OSBPL3_ENST00000353930.1_Silent_p.F641F	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	677					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)	p.F677F(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						AATGATCCCCAAAACTAAAAA	0.393																																						uc003sxf.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2029-2031)TTT>TTC		oxysterol-binding protein-like protein 3 isoform							77.0	77.0	77.0					7																	24854819		2203	4300	6503	SO:0001819	synonymous_variant	26031				lipid transport		lipid binding|protein binding	g.chr7:24854819A>G	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.2031T>C	7.37:g.24854819A>G						OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Silent_p.F641F|OSBPL3_uc003sxh.2_Silent_p.F646F|OSBPL3_uc003sxi.2_Silent_p.F610F	p.F677F	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN			19	2436	-			677					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Silent	SNP	ENST00000313367.2	37	c.2031T>C	CCDS5390.1																																																																																				PASS	0.393	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			70	144	70	144	---	---	---	---
HOXA1	3198	broad.mit.edu	37	7	27134301	27134301	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:27134301G>A	ENST00000343060.4	-	2	827	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	HOTAIRM1_ENST00000429611.3_RNA|HOXA1_ENST00000355633.5_3'UTR|HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000434063.3_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	256					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R256C(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTGCGGGCGCGCGTCAGGTAC	0.562																																						uc003sye.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(766-768)CGC>TGC		homeobox A1 isoform a							117.0	103.0	107.0					7																	27134301		2203	4300	6503	SO:0001583	missense	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27134301G>A		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.766C>T	7.37:g.27134301G>A	ENSP00000343246:p.Arg256Cys					HOXA1_uc003syd.2_3'UTR|uc003syg.2_5'Flank	p.R256C	NM_005522	NP_005513	P49639	HXA1_HUMAN			2	860	-			256			Homeobox.		A4D184|B2R8U7|O43363	Missense_Mutation	SNP	ENST00000343060.4	37	c.766C>T	CCDS5401.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741564	0.49151	.	.	ENSG00000105991	ENST00000343060	D	0.96459	-4.02	5.31	2.28	0.28536	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.097855	0.64402	D	0.000002	D	0.98438	0.9480	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99525	1.0959	10	0.87932	D	0	.	15.0935	0.72215	0.0:0.0:0.3974:0.6026	.	256	P49639	HXA1_HUMAN	C	256	ENSP00000343246:R256C	ENSP00000343246:R256C	R	-	1	0	HOXA1	27100826	0.985000	0.35326	0.088000	0.20740	0.942000	0.58702	1.802000	0.38853	0.567000	0.29293	0.655000	0.94253	CGC		PASS	0.562	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			77	140	77	140	---	---	---	---
CRHR2	1395	broad.mit.edu	37	7	30693149	30693149	+	Missense_Mutation	SNP	G	G	C	rs143693159	byFrequency	TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:30693149G>C	ENST00000471646.1	-	12	1580	c.1163C>G	c.(1162-1164)gCc>gGc	p.A388G	CRHR2_ENST00000506074.2_3'UTR|CRHR2_ENST00000341843.4_Missense_Mutation_p.A374G|CRHR2_ENST00000348438.4_Missense_Mutation_p.A415G	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	388					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)	p.A374G(1)|p.A388G(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CATGGCCCGGGCCATGGGGAC	0.652																																						uc003tbn.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|ovary(1)|skin(1)	4						c.(1162-1164)GCC>GGC		corticotropin releasing hormone receptor 2							154.0	137.0	143.0					7																	30693149		2203	4300	6503	SO:0001583	missense	1395				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr7:30693149G>C		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.1163C>G	7.37:g.30693149G>C	ENSP00000418722:p.Ala388Gly					CRHR2_uc010kvw.1_3'UTR|CRHR2_uc010kvx.1_Missense_Mutation_p.A387G|CRHR2_uc010kvy.1_Missense_Mutation_p.A224G|CRHR2_uc003tbo.2_Missense_Mutation_p.A374G|CRHR2_uc003tbp.2_Missense_Mutation_p.A415G	p.A388G	NM_001883	NP_001874	Q13324	CRFR2_HUMAN			12	1407	-			388			Cytoplasmic (Potential).		B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP	ENST00000471646.1	37	c.1163C>G	CCDS5429.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316331	0.81469	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843	T;T;T	0.44482	0.92;1.06;0.93	4.49	3.61	0.41365	.	0.000000	0.85682	D	0.000000	T	0.44008	0.1273	L	0.47716	1.5	0.80722	D	1	P;P;P;P	0.45283	0.658;0.768;0.855;0.658	P;P;P;P	0.51550	0.474;0.5;0.673;0.474	T	0.16928	-1.0386	10	0.21540	T	0.41	.	10.5564	0.45121	0.0974:0.0:0.9026:0.0	.	387;415;374;388	B3SXT0;Q13324-2;Q13324-3;Q13324	.;.;.;CRFR2_HUMAN	G	388;415;374	ENSP00000418722:A388G;ENSP00000340943:A415G;ENSP00000344304:A374G	ENSP00000344304:A374G	A	-	2	0	CRHR2	30659674	1.000000	0.71417	0.972000	0.41901	0.903000	0.53119	7.922000	0.87538	1.020000	0.39573	0.467000	0.42956	GCC		PASS	0.652	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			61	147	61	147	---	---	---	---
INMT	11185	broad.mit.edu	37	7	30791833	30791833	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:30791833A>G	ENST00000013222.5	+	1	83	c.67A>G	c.(67-69)Act>Gct	p.T23A	INMT_ENST00000484180.1_Intron|INMT-FAM188B_ENST00000458257.1_Missense_Mutation_p.T23A|INMT_ENST00000409539.1_Missense_Mutation_p.T23A	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	23					amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)	p.T23A(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						CTACTTGGCTACTTACTACAG	0.557																																						uc003tbs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(67-69)ACT>GCT		indolethylamine N-methyltransferase							127.0	120.0	122.0					7																	30791833		2203	4300	6503	SO:0001583	missense	11185					cytoplasm	amine N-methyltransferase activity	g.chr7:30791833A>G		CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.67A>G	7.37:g.30791833A>G	ENSP00000013222:p.Thr23Ala					FAM188B_uc010kwe.2_5'UTR|INMT_uc010kwc.1_Intron|INMT_uc010kwd.1_Missense_Mutation_p.T23A	p.T23A	NM_006774	NP_006765	O95050	INMT_HUMAN			1	83	+			23					B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Missense_Mutation	SNP	ENST00000013222.5	37	c.67A>G	CCDS5430.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.591486	0.46214	.	.	ENSG00000241644	ENST00000013222;ENST00000409539	T;T	0.03330	3.97;3.97	3.2	3.2	0.36748	.	0.184300	0.32372	N	0.006186	T	0.07863	0.0197	M	0.83223	2.63	0.09310	N	1	P;P	0.43750	0.816;0.816	P;P	0.48982	0.597;0.597	T	0.09357	-1.0678	10	0.07482	T	0.82	-0.3306	5.8222	0.18534	0.7636:0.0:0.0:0.2364	.	23;23	B8ZZ69;O95050	.;INMT_HUMAN	A	23	ENSP00000013222:T23A;ENSP00000386961:T23A	ENSP00000013222:T23A	T	+	1	0	INMT	30758358	0.018000	0.18449	0.086000	0.20670	0.052000	0.14988	1.593000	0.36686	1.679000	0.50963	0.533000	0.62120	ACT		PASS	0.557	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214993.3	NM_006774		41	121	41	121	---	---	---	---
GHRHR	2692	broad.mit.edu	37	7	31018795	31018795	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:31018795G>C	ENST00000326139.2	+	13	1254	c.1208G>C	c.(1207-1209)aGg>aCg	p.R403T	GHRHR_ENST00000409316.1_3'UTR|GHRHR_ENST00000461424.1_Intron|GHRHR_ENST00000409904.3_Missense_Mutation_p.R339T	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	403					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.R403T(1)		biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	CCAGCCTGGAGGACCCGTGCT	0.592																																						uc003tbx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)|large_intestine(1)	5						c.(1207-1209)AGG>ACG		growth hormone releasing hormone receptor	Sermorelin(DB00010)						131.0	95.0	107.0					7																	31018795		2203	4300	6503	SO:0001583	missense	2692				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	g.chr7:31018795G>C		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.1208G>C	7.37:g.31018795G>C	ENSP00000320180:p.Arg403Thr					GHRHR_uc003tby.2_Missense_Mutation_p.R339T|GHRHR_uc003tbz.2_3'UTR	p.R403T	NM_000823	NP_000814	Q02643	GHRHR_HUMAN			13	1256	+			403			Cytoplasmic (Potential).		Q99863	Missense_Mutation	SNP	ENST00000326139.2	37	c.1208G>C	CCDS5432.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149341	0.37923	.	.	ENSG00000106128	ENST00000326139;ENST00000409904	T;T	0.52754	0.65;0.84	5.34	2.54	0.30619	.	.	.	.	.	T	0.41558	0.1164	M	0.75777	2.31	0.22457	N	0.999086	P;P	0.40909	0.732;0.605	B;B	0.35413	0.202;0.202	T	0.31052	-0.9957	9	0.39692	T	0.17	.	5.0406	0.14456	0.1753:0.0:0.6581:0.1666	.	339;403	Q9HB45;Q02643	.;GHRHR_HUMAN	T	403;339	ENSP00000320180:R403T;ENSP00000387113:R339T	ENSP00000320180:R403T	R	+	2	0	GHRHR	30985320	0.939000	0.31865	0.315000	0.25238	0.813000	0.45954	1.472000	0.35376	0.321000	0.23259	0.643000	0.83706	AGG		PASS	0.592	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2			32	95	32	95	---	---	---	---
CCDC129	223075	broad.mit.edu	37	7	31617870	31617870	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:31617870G>T	ENST00000407970.3	+	8	1030	c.992G>T	c.(991-993)gGt>gTt	p.G331V	CCDC129_ENST00000409210.1_Missense_Mutation_p.G239V|CCDC129_ENST00000451887.2_Missense_Mutation_p.G357V|CCDC129_ENST00000319386.3_Intron	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	331								p.G331V(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CCTCCTCATGGTCTTCTGAGC	0.507																																						uc003tcj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(991-993)GGT>GTT		coiled-coil domain containing 129							80.0	78.0	79.0					7																	31617870		2034	4184	6218	SO:0001583	missense	223075							g.chr7:31617870G>T	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.992G>T	7.37:g.31617870G>T	ENSP00000384416:p.Gly331Val					CCDC129_uc011kad.1_Missense_Mutation_p.G341V|CCDC129_uc003tci.1_Intron|CCDC129_uc011kae.1_Missense_Mutation_p.G357V|CCDC129_uc003tck.1_Missense_Mutation_p.G239V	p.G331V	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			8	1985	+			331					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.992G>T	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	9.720	1.159364	0.21454	.	.	ENSG00000180347	ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T	0.17691	2.52;2.51;2.26	5.08	-1.56	0.08532	.	.	.	.	.	T	0.08537	0.0212	N	0.19112	0.55	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.39292	-0.9621	8	.	.	.	1.4309	5.0558	0.14531	0.2338:0.3313:0.3665:0.0683	.	357;341;331	F5H3V5;F5H2J8;Q6ZRS4	.;.;CC129_HUMAN	V	331;357;341;239	ENSP00000384416:G331V;ENSP00000395835:G357V;ENSP00000387214:G239V	.	G	+	2	0	CCDC129	31584395	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.134000	0.03228	-0.376000	0.07943	-0.911000	0.02809	GGT		PASS	0.507	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		10	104	10	104	---	---	---	---
PDE1C	5137	broad.mit.edu	37	7	31890253	31890253	+	Splice_Site	SNP	A	A	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:31890253A>T	ENST00000396191.1	-	8	1307		c.e8+1		PDE1C_ENST00000396184.3_Splice_Site|PDE1C_ENST00000396182.2_Splice_Site|PDE1C_ENST00000396193.1_Splice_Site|PDE1C_ENST00000321453.7_Splice_Site	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa						activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.?(3)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	AAACACCCTCACCGAGTCTGA	0.453																																						uc003tcm.1																			3	Unknown(3)		lung(3)	skin(3)|central_nervous_system(1)	4						c.e8+1		phosphodiesterase 1C							169.0	151.0	157.0					7																	31890253		2203	4300	6503	SO:0001630	splice_region_variant	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31890253A>T	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.851+1T>A	7.37:g.31890253A>T						PDE1C_uc003tcn.1_Splice_Site_p.R284_splice|PDE1C_uc003tco.1_Splice_Site_p.R344_splice|PDE1C_uc003tcr.2_Splice_Site_p.R284_splice|PDE1C_uc003tcs.2_Splice_Site_p.R284_splice	p.R284_splice	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		8	1320	-								B3KPC6|E9PE92|Q14124|Q8NB10	Splice_Site	SNP	ENST00000396191.1	37	c.851_splice	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	a	25.8	4.672909	0.88445	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4714	0.84112	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDE1C	31856778	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	2.368000	0.80403	0.529000	0.55759	.		PASS	0.453	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1		Intron	66	147	66	147	---	---	---	---
POLD2	5425	broad.mit.edu	37	7	44155788	44155788	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:44155788C>A	ENST00000406581.2	-	9	1594	c.945G>T	c.(943-945)atG>atT	p.M315I	POLD2_ENST00000223361.3_Missense_Mutation_p.M315I|POLD2_ENST00000452185.1_Missense_Mutation_p.M315I	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	315					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.M315I(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CCAGCGGGAACATGCAGGGGT	0.627																																						uc010kxz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(943-945)ATG>ATT		DNA-directed DNA polymerase delta 2							66.0	73.0	71.0					7																	44155788		2203	4300	6503	SO:0001583	missense	5425				base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding	g.chr7:44155788C>A		CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"""DNA polymerases"""	9176	protein-coding gene	gene with protein product	"""Pol delta B subunit (p50)"", ""DNA polymerase delta subunit p50"""	600815	"""polymerase (DNA directed), delta 2, regulatory subunit (50kD)"", ""polymerase (DNA directed), delta 2, regulatory subunit 50kDa"""			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.945G>T	7.37:g.44155788C>A	ENSP00000386105:p.Met315Ile					POLD2_uc003tke.3_Missense_Mutation_p.M315I|POLD2_uc010kya.2_Missense_Mutation_p.M315I|POLD2_uc003tkf.3_Missense_Mutation_p.M315I	p.M315I	NM_006230	NP_006221	P49005	DPOD2_HUMAN			9	1595	-			315					A4D2J4|B2R5S4	Missense_Mutation	SNP	ENST00000406581.2	37	c.945G>T	CCDS5477.1	.	.	.	.	.	.	.	.	.	.	C	34	5.318877	0.95682	.	.	ENSG00000106628	ENST00000406581;ENST00000223361;ENST00000452185;ENST00000436400;ENST00000436844	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.84	5.84	0.93424	DNA polymerase alpha/epsilon, subunit B (1);	0.000000	0.85682	D	0.000000	T	0.51635	0.1686	M	0.66297	2.02	0.80722	D	1	D;D	0.55172	0.97;0.962	P;P	0.58660	0.843;0.734	T	0.33854	-0.9852	10	0.35671	T	0.21	-16.1596	19.7615	0.96321	0.0:1.0:0.0:0.0	.	315;315	P49005;F8W8R3	DPOD2_HUMAN;.	I	315;315;315;34;233	ENSP00000386105:M315I;ENSP00000223361:M315I;ENSP00000395231:M315I;ENSP00000399447:M34I;ENSP00000416203:M233I	ENSP00000223361:M315I	M	-	3	0	POLD2	44122313	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.299000	0.78831	2.778000	0.95560	0.655000	0.94253	ATG		PASS	0.627	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250994.2	NM_001127218		29	78	29	78	---	---	---	---
FIGNL1	63979	broad.mit.edu	37	7	50514621	50514621	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:50514621C>T	ENST00000419119.1	-	2	1918	c.365G>A	c.(364-366)gGc>gAc	p.G122D	FIGNL1_ENST00000433017.1_Missense_Mutation_p.G122D|FIGNL1_ENST00000395556.2_Missense_Mutation_p.G122D|FIGNL1_ENST00000356889.4_Missense_Mutation_p.G122D|FIGNL1_ENST00000435566.1_3'UTR			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	122					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)	p.G122D(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				GAATTTTTTGCCAGCTTGCAT	0.393																																						uc003tpc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(364-366)GGC>GAC		fidgetin-like 1							93.0	94.0	94.0					7																	50514621		2203	4300	6503	SO:0001583	missense	63979				ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	g.chr7:50514621C>T	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.365G>A	7.37:g.50514621C>T	ENSP00000410811:p.Gly122Asp					FIGNL1_uc003tpb.2_Missense_Mutation_p.G11D|FIGNL1_uc003tpd.2_Missense_Mutation_p.G122D|FIGNL1_uc003tpe.2_Missense_Mutation_p.G122D|FIGNL1_uc010kyy.2_Missense_Mutation_p.G122D	p.G122D	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN			4	742	-	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)	122					D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	ENST00000419119.1	37	c.365G>A	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370676	0.61624	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119;ENST00000436590	T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04	5.49	5.49	0.81192	.	0.063706	0.64402	D	0.000007	T	0.38081	0.1027	M	0.66939	2.045	0.80722	D	1	P	0.52577	0.954	P	0.50860	0.652	T	0.13845	-1.0494	10	0.66056	D	0.02	-13.1976	19.7401	0.96223	0.0:1.0:0.0:0.0	.	122	Q6PIW4	FIGL1_HUMAN	D	122	ENSP00000349356:G122D;ENSP00000378924:G122D;ENSP00000399997:G122D;ENSP00000410811:G122D;ENSP00000394070:G122D	ENSP00000349356:G122D	G	-	2	0	FIGNL1	50482115	0.999000	0.42202	0.988000	0.46212	0.983000	0.72400	4.197000	0.58413	2.735000	0.93741	0.563000	0.77884	GGC		PASS	0.393	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		5	271	5	271	---	---	---	---
GRB10	2887	broad.mit.edu	37	7	50674067	50674067	+	Silent	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:50674067C>T	ENST00000401949.1	-	14	1708	c.1239G>A	c.(1237-1239)agG>agA	p.R413R	GRB10_ENST00000398812.2_Silent_p.R413R|GRB10_ENST00000398810.2_Silent_p.R355R|GRB10_ENST00000439599.1_Silent_p.R407R|GRB10_ENST00000403097.1_Silent_p.R407R|GRB10_ENST00000335866.3_Silent_p.R355R|GRB10_ENST00000357271.5_Silent_p.R367R|GRB10_ENST00000406641.1_Silent_p.R355R|GRB10_ENST00000402578.1_Silent_p.R355R|GRB10_ENST00000407526.1_Silent_p.R355R|GRB10_ENST00000402497.1_Silent_p.R355R			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	413					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)	p.R413R(1)|p.R407R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GCAAGGCCTTCCTCTGCTGAG	0.552									Russell-Silver syndrome																													uc003tpi.2																			2	Substitution - coding silent(2)		lung(2)	lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1237-1239)AGG>AGA		growth factor receptor-bound protein 10 isoform							104.0	109.0	107.0					7																	50674067		1977	4140	6117	SO:0001819	synonymous_variant	2887	Russell-Silver_syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50674067C>T		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1239G>A	7.37:g.50674067C>T						GRB10_uc003tph.3_Silent_p.R355R|GRB10_uc003tpj.2_Silent_p.R367R|GRB10_uc003tpk.2_Silent_p.R413R|GRB10_uc010kzb.2_Silent_p.R355R|GRB10_uc003tpl.2_Silent_p.R407R|GRB10_uc003tpm.2_Silent_p.R355R|GRB10_uc003tpn.2_Silent_p.R355R	p.R413R	NM_005311	NP_005302	Q13322	GRB10_HUMAN			11	1270	-	Glioma(55;0.08)|all_neural(89;0.245)		413					A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Silent	SNP	ENST00000401949.1	37	c.1239G>A	CCDS43582.1																																																																																				PASS	0.552	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			38	131	38	131	---	---	---	---
EGFR	1956	broad.mit.edu	37	7	55231501	55231501	+	Silent	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:55231501C>T	ENST00000275493.2	+	14	1884	c.1707C>T	c.(1705-1707)atC>atT	p.I569I	EGFR_ENST00000342916.3_Silent_p.I569I|EGFR_ENST00000344576.2_Silent_p.I569I|EGFR_ENST00000454757.2_Silent_p.I516I|EGFR_ENST00000455089.1_Silent_p.I524I|EGFR_ENST00000442591.1_Silent_p.I569I	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	569					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.I569I(2)		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)	CCATGAACATCACCTGCACAG	0.567		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		2	Substitution - coding silent(2)		lung(2)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(1705-1707)ATC>ATT		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						140.0	130.0	134.0					7																	55231501		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:55231501C>T		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.1707C>T	7.37:g.55231501C>T		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.2_Silent_p.I569I|EGFR_uc003tqj.2_Silent_p.I569I|EGFR_uc010kzg.1_Silent_p.I524I|EGFR_uc011kco.1_Silent_p.I516I|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron|EGFR_uc003tqn.2_5'Flank	p.I569I	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)		14	1953	+	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)		569			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	c.1707C>T	CCDS5514.1																																																																																				PASS	0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		42	111	42	111	---	---	---	---
CALN1	83698	broad.mit.edu	37	7	71571265	71571265	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:71571265A>T	ENST00000329008.5	-	3	431	c.133T>A	c.(133-135)Ttt>Att	p.F45I	CALN1_ENST00000395275.2_Missense_Mutation_p.F87I|CALN1_ENST00000395276.2_Missense_Mutation_p.F45I|CALN1_ENST00000405452.2_Missense_Mutation_p.F45I|CALN1_ENST00000431984.1_Missense_Mutation_p.F45I|CALN1_ENST00000412588.1_Missense_Mutation_p.F87I	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	45	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)	p.F45I(1)|p.F87I(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				AGAACCCGAAAGGCCTCTCGG	0.537																																						uc003twa.3																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(133-135)TTT>ATT		calneuron 1 isoform 2							55.0	55.0	55.0					7																	71571265		2203	4300	6503	SO:0001583	missense	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71571265A>T	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.133T>A	7.37:g.71571265A>T	ENSP00000332498:p.Phe45Ile					CALN1_uc003twb.3_Missense_Mutation_p.F87I|CALN1_uc003twc.3_Missense_Mutation_p.F45I	p.F45I	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN			3	660	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	45			EF-hand 1.|Cytoplasmic (Potential).		J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	c.133T>A	CCDS5541.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.034746	0.75617	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452;ENST00000446128	D;D;D;D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01;-3.01;-3.01	5.51	5.51	0.81932	EF-hand-like domain (1);	0.044464	0.85682	D	0.000000	D	0.95950	0.8681	H	0.95816	3.725	0.58432	D	0.999991	P;P	0.39831	0.69;0.69	P;P	0.47626	0.552;0.552	D	0.96807	0.9594	10	0.87932	D	0	-0.2278	14.8418	0.70230	1.0:0.0:0.0:0.0	.	45;45	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	I	45;87;45;45;87;45;45	ENSP00000332498:F45I;ENSP00000378690:F87I;ENSP00000378691:F45I;ENSP00000410704:F45I;ENSP00000391882:F87I;ENSP00000384354:F45I;ENSP00000411806:F45I	ENSP00000332498:F45I	F	-	1	0	CALN1	71209201	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.941000	0.92964	2.107000	0.64212	0.486000	0.48141	TTT		PASS	0.537	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		16	45	16	45	---	---	---	---
ABCB1	5243	broad.mit.edu	37	7	87174182	87174182	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:87174182C>G	ENST00000265724.3	-	17	2438	c.2021G>C	c.(2020-2022)gGa>gCa	p.G674A	ABCB1_ENST00000543898.1_Missense_Mutation_p.G610A	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	674					drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.G674A(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GGCTTGTGATCCACGGACACT	0.413																																						uc003uiz.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(2020-2022)GGA>GCA		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						165.0	146.0	152.0					7																	87174182		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87174182C>G	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2021G>C	7.37:g.87174182C>G	ENSP00000265724:p.Gly674Ala					ABCB1_uc011khc.1_Missense_Mutation_p.G610A	p.G674A	NM_000927	NP_000918	P08183	MDR1_HUMAN			17	2439	-	Esophageal squamous(14;0.00164)		674			Cytoplasmic (Potential).		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.2021G>C	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.147361	0.37923	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.86769	-2.16;-2.17	5.45	0.209	0.15226	.	0.544825	0.15130	N	0.278873	T	0.70290	0.3207	N	0.12443	0.215	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.52946	-0.8507	10	0.07644	T	0.81	-2.6121	9.9333	0.41537	0.0:0.6637:0.1608:0.1755	.	610;674	B5AK60;P08183	.;MDR1_HUMAN	A	455;674;610	ENSP00000265724:G674A;ENSP00000444095:G610A	ENSP00000265724:G674A	G	-	2	0	ABCB1	87012118	0.000000	0.05858	0.023000	0.16930	0.965000	0.64279	-0.054000	0.11826	0.367000	0.24454	0.650000	0.86243	GGA		PASS	0.413	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		88	201	88	201	---	---	---	---
ABCB1	5243	broad.mit.edu	37	7	87196138	87196138	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:87196138C>T	ENST00000265724.3	-	7	910	c.493G>A	c.(493-495)Gtg>Atg	p.V165M	ABCB1_ENST00000543898.1_Intron	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	165	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.V165M(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	ACATCGTGCACATCAAACCAG	0.383																																						uc003uiz.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(493-495)GTG>ATG		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						128.0	130.0	129.0					7																	87196138		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87196138C>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.493G>A	7.37:g.87196138C>T	ENSP00000265724:p.Val165Met					ABCB1_uc011khc.1_Intron	p.V165M	NM_000927	NP_000918	P08183	MDR1_HUMAN			7	911	-	Esophageal squamous(14;0.00164)		165			ABC transmembrane type-1 1.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.493G>A	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699610	0.48307	.	.	ENSG00000085563	ENST00000265724	T	0.81247	-1.47	5.91	3.16	0.36331	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.241631	0.41712	N	0.000830	T	0.73737	0.3625	L	0.41961	1.31	0.80722	D	1	B	0.16603	0.018	B	0.32864	0.154	T	0.66320	-0.5953	10	0.54805	T	0.06	-9.5883	6.239	0.20778	0.1298:0.6698:0.0:0.2004	.	165	P08183	MDR1_HUMAN	M	165	ENSP00000265724:V165M	ENSP00000265724:V165M	V	-	1	0	ABCB1	87034074	0.269000	0.24143	0.755000	0.31263	0.975000	0.68041	0.916000	0.28651	0.419000	0.25927	0.655000	0.94253	GTG		PASS	0.383	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		47	80	47	80	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88963284	88963284	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:88963284C>G	ENST00000333190.4	+	4	1597	c.988C>G	c.(988-990)Cat>Gat	p.H330D		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	330							metal ion binding (GO:0046872)	p.H330Y(1)|p.H330D(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATCTAACATTCATCTTTCAGA	0.338										HNSCC(36;0.09)																												uc011khi.1																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(988-990)CAT>GAT		zinc finger protein 804B							36.0	38.0	38.0					7																	88963284		2202	4296	6498	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963284C>G	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.988C>G	7.37:g.88963284C>G	ENSP00000329638:p.His330Asp	HNSCC(36;0.09)					p.H330D	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1526	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		330					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.988C>G	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625787	0.28889	.	.	ENSG00000182348	ENST00000333190	T	0.05081	3.5	5.14	2.35	0.29111	.	0.435577	0.21823	N	0.068585	T	0.06142	0.0159	L	0.54323	1.7	0.09310	N	0.999999	P	0.38922	0.651	B	0.32805	0.153	T	0.27706	-1.0066	10	0.48119	T	0.1	0.2842	7.685	0.28536	0.1335:0.7265:0.0:0.1401	.	330	A4D1E1	Z804B_HUMAN	D	330	ENSP00000329638:H330D	ENSP00000329638:H330D	H	+	1	0	ZNF804B	88801220	0.007000	0.16637	0.035000	0.18076	0.992000	0.81027	1.592000	0.36676	0.329000	0.23460	0.655000	0.94253	CAT		PASS	0.338	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		48	86	48	86	---	---	---	---
CFAP69	79846	broad.mit.edu	37	7	89901183	89901183	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:89901183A>T	ENST00000389297.4	+	8	1022	c.771A>T	c.(769-771)ttA>ttT	p.L257F	C7orf63_ENST00000316089.8_Missense_Mutation_p.L257F|AC002064.4_ENST00000420245.1_RNA|C7orf63_ENST00000463311.1_Intron|C7orf63_ENST00000497910.1_Missense_Mutation_p.L239F	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		257								p.L257F(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						GACAGCTTTTATTTCGTTCAT	0.368																																						uc010lep.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(769-771)TTA>TTT		hypothetical protein LOC79846 isoform 1							29.0	29.0	29.0					7																	89901183		1821	4074	5895	SO:0001583	missense	79846						binding	g.chr7:89901183A>T																												ENST00000389297.4:c.771A>T	7.37:g.89901183A>T	ENSP00000373948:p.Leu257Phe					C7orf63_uc003ukf.2_Intron|C7orf63_uc003ukg.2_5'UTR|C7orf63_uc011khj.1_Missense_Mutation_p.L239F	p.L257F	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN			8	1022	+			257					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	c.771A>T	CCDS43613.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.56|15.56	2.868551|2.868551	0.51588|0.51588	.|.	.|.	ENSG00000105792|ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170|ENST00000418199	T;T;T;T|.	0.51325|.	0.71;0.71;0.71;0.71|.	5.74|5.74	-11.5|-11.5	0.00074|0.00074	.|.	0.171325|.	0.38326|.	N|.	0.001731|.	T|T	0.56863|0.56863	0.2014|0.2014	M|M	0.76002|0.76002	2.32|2.32	0.20196|0.20196	N|N	0.999923|0.999923	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.77004|.	0.989;0.976|.	T|T	0.64127|0.64127	-0.6480|-0.6480	10|5	0.66056|.	D|.	0.02|.	-7.3744|-7.3744	15.5329|15.5329	0.75977|0.75977	0.1856:0.0774:0.6652:0.0718|0.1856:0.0774:0.6652:0.0718	.|.	239;257|.	A5D8W1-5;A5D8W1|.	.;CG063_HUMAN|.	F|F	257;257;239;197|59	ENSP00000373948:L257F;ENSP00000321753:L257F;ENSP00000419549:L239F;ENSP00000392365:L197F|.	ENSP00000321753:L257F|.	L|Y	+|+	3|2	2|0	C7orf63|C7orf63	89739119|89739119	0.003000|0.003000	0.15002|0.15002	0.159000|0.159000	0.22649|0.22649	0.668000|0.668000	0.39293|0.39293	-1.772000|-1.772000	0.01787|0.01787	-2.243000|-2.243000	0.00707|0.00707	-0.911000|-0.911000	0.02809|0.02809	TTA|TAT		PASS	0.368	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			13	47	13	47	---	---	---	---
CALCR	799	broad.mit.edu	37	7	93090230	93090230	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:93090230T>A	ENST00000394441.1	-	7	866	c.551A>T	c.(550-552)cAc>cTc	p.H184L	CALCR_ENST00000421592.1_Missense_Mutation_p.H200L|CALCR_ENST00000426151.1_Missense_Mutation_p.H184L|CALCR_ENST00000359558.2_Missense_Mutation_p.H218L|CALCR_ENST00000360249.4_Missense_Mutation_p.H200L	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	218					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.H184L(1)|p.H218L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	CATGTTCTTGTGCAGGGTTAC	0.428																																						uc003umv.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(652-654)CAC>CTC		calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)						126.0	122.0	123.0					7																	93090230		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	g.chr7:93090230T>A	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.551A>T	7.37:g.93090230T>A	ENSP00000377959:p.His184Leu					CALCR_uc011kia.1_5'UTR|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.H184L|CALCR_uc003umw.2_Missense_Mutation_p.H184L	p.H218L	NM_001742	NP_001733	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		9	914	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		200			Helical; Name=2; (Potential).		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.653A>T	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.073488	0.76415	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	5.44	5.44	0.79542	.	.	.	.	.	T	0.81583	0.4853	H	0.96889	3.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87809	0.2630	9	0.87932	D	0	.	14.7929	0.69857	0.0:0.0:0.0:1.0	.	218;184	F5H605;A4D1G6	.;.	L	218;200;200;184;184	ENSP00000352561:H218L;ENSP00000353385:H200L;ENSP00000399552:H200L;ENSP00000377959:H184L;ENSP00000389295:H184L	ENSP00000352561:H218L	H	-	2	0	CALCR	92928166	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	6.922000	0.75811	2.197000	0.70478	0.454000	0.30748	CAC		PASS	0.428	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		57	153	57	153	---	---	---	---
CASD1	64921	broad.mit.edu	37	7	94176441	94176441	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:94176441A>T	ENST00000297273.4	+	13	1954	c.1667A>T	c.(1666-1668)aAa>aTa	p.K556I		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	556						integral component of membrane (GO:0016021)		p.K556I(1)		NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTACTGTTGAAACTAGGCTTT	0.239																																						uc003uni.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1666-1668)AAA>ATA		CAS1 domain containing 1 precursor							124.0	121.0	122.0					7																	94176441		2202	4298	6500	SO:0001583	missense	64921					integral to membrane		g.chr7:94176441A>T	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1667A>T	7.37:g.94176441A>T	ENSP00000297273:p.Lys556Ile					CASD1_uc003unj.3_Missense_Mutation_p.K556I	p.K556I	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		13	1894	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		556			Helical; (Potential).		B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	ENST00000297273.4	37	c.1667A>T	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.090856	0.76756	.	.	ENSG00000127995	ENST00000297273	T	0.62364	0.03	5.14	5.14	0.70334	.	0.045924	0.85682	D	0.000000	T	0.82102	0.4964	M	0.88906	2.99	0.52501	D	0.999954	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.86044	0.1521	10	0.87932	D	0	.	15.2858	0.73828	1.0:0.0:0.0:0.0	.	556;556	Q8WZ77;Q96PB1	.;CASD1_HUMAN	I	556	ENSP00000297273:K556I	ENSP00000297273:K556I	K	+	2	0	CASD1	94014377	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.409000	0.66374	2.083000	0.62718	0.454000	0.30748	AAA		PASS	0.239	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900		56	110	56	110	---	---	---	---
PEG10	23089	broad.mit.edu	37	7	94293676	94293676	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:94293676C>A	ENST00000482108.1	+	2	1287	c.808C>A	c.(808-810)Cca>Aca	p.P270T	PEG10_ENST00000488574.1_Missense_Mutation_p.P270T	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	270	Necessary for interaction with ALK1.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P270T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CCAGGTAGATCCAACCGAGCC	0.612																																						uc011kie.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1036-1038)CCA>ACA		paternally expressed 10 isoform RF1							16.0	21.0	19.0					7																	94293676		1991	4164	6155	SO:0001583	missense	23089				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr7:94293676C>A	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.808C>A	7.37:g.94293676C>A	ENSP00000417587:p.Pro270Thr						p.P346T	NM_001040152	NP_001035242	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	1253	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		270			Necessary for interaction with ALK1.		Q96A68|Q9UPV1	Missense_Mutation	SNP	ENST00000482108.1	37	c.1036C>A	CCDS55126.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619084	0.28801	.	.	ENSG00000242265	ENST00000482108;ENST00000488574	T;T	0.14144	2.53;2.53	4.34	3.45	0.39498	.	.	.	.	.	T	0.15003	0.0362	L	0.45352	1.415	0.09310	N	1	P;P	0.51057	0.941;0.941	P;P	0.46320	0.512;0.512	T	0.08269	-1.0730	9	0.31617	T	0.26	.	10.0823	0.42397	0.0:0.8973:0.0:0.1027	.	346;270	B4DSP0;Q86TG7	.;PEG10_HUMAN	T	270	ENSP00000417587:P270T;ENSP00000418944:P270T	ENSP00000417587:P270T	P	+	1	0	PEG10	94131612	0.078000	0.21339	0.093000	0.20910	0.176000	0.22953	3.391000	0.52530	2.429000	0.82318	0.555000	0.69702	CCA		PASS	0.612	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	NM_015068		4	16	4	16	---	---	---	---
PON1	5444	broad.mit.edu	37	7	94931587	94931588	+	Missense_Mutation	DNP	AG	AG	TT			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:94931587_94931588AG>TT	ENST00000222381.3	-	8	1069_1070	c.838_839CT>AA	c.(838-840)CTt>AAt	p.L280N	PON1_ENST00000542556.1_Missense_Mutation_p.L280N	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	280					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)	p.L280N(1)|p.L280I(1)|p.L280H(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	TCCAACCCAAAGGTCTCCTGTC	0.376																																					GBM(119;715 1622 17358 22490 33240)	uc003uns.2																			3	Substitution - Missense(3)		lung(3)	pancreas(1)	1						c.(838-840)CTT>CAT|c.(838-840)CTT>ATT		paraoxonase 1 precursor	Atorvastatin(DB01076)|Cefazolin(DB01327)																																			SO:0001583	missense	5444				aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	g.chr7:94931587A>T|g.chr7:94931588G>T	AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"""Paraoxonases"""	9204	protein-coding gene	gene with protein product	"""esterase A"", ""arylesterase 1"""	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.838_839delinsTT	7.37:g.94931587_94931588delinsTT	ENSP00000222381:p.Leu280Asn					PON1_uc011kih.1_Missense_Mutation_p.L280H|PON1_uc011kih.1_Missense_Mutation_p.L280I	p.L280H|p.L280I	NM_000446	NP_000437	P27169	PON1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		8	936|935	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		280					B2RA40|Q16052|Q6B0J6|Q9UCB1	Missense_Mutation	SNP	ENST00000222381.3	37	c.839T>A|c.838C>A	CCDS5638.1																																																																																				PASS	0.376	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2	NM_000446		30	123|122	30	122	---	---	---	---
PTCD1	26024	broad.mit.edu	37	7	99022625	99022625	+	Silent	SNP	G	G	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:99022625G>C	ENST00000292478.4	-	6	1780	c.1530C>G	c.(1528-1530)ctC>ctG	p.L510L	ATP5J2-PTCD1_ENST00000413834.1_Silent_p.L559L|PTCD1_ENST00000555673.1_Silent_p.L559L	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	510					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.L510L(1)		endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GCTCATCCAGGAGGGCCAGCA	0.617																																						uc003uqh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1528-1530)CTC>CTG		pentatricopeptide repeat domain 1							75.0	73.0	73.0					7																	99022625		2203	4300	6503	SO:0001819	synonymous_variant	26024							g.chr7:99022625G>C	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.1530C>G	7.37:g.99022625G>C						PTCD1_uc011kiw.1_Silent_p.L559L	p.L510L	NM_015545	NP_056360	O75127	PTCD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		6	1661	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		510					Q3ZB78|Q66K60|Q9UDV2	Silent	SNP	ENST00000292478.4	37	c.1530C>G	CCDS34691.1																																																																																				PASS	0.617	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		56	110	56	110	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103230067	103230067	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:103230067A>T	ENST00000428762.1	-	28	4280	c.4121T>A	c.(4120-4122)gTt>gAt	p.V1374D	RELN_ENST00000343529.5_Missense_Mutation_p.V1374D|RELN_ENST00000424685.2_Missense_Mutation_p.V1374D	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1374					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.V1374D(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCTTGGAATAACAATGGTGAT	0.428																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(4120-4122)GTT>GAT		reelin isoform a							204.0	183.0	190.0					7																	103230067		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103230067A>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4121T>A	7.37:g.103230067A>T	ENSP00000392423:p.Val1374Asp					RELN_uc010liz.2_Missense_Mutation_p.V1374D	p.V1374D	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	28	4281	-			1374					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.4121T>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.006324	0.74932	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.41758	0.99;1.86;0.99	5.48	4.33	0.51752	.	0.196922	0.43747	D	0.000525	T	0.54046	0.1834	L	0.54323	1.7	0.58432	D	0.999998	D;D	0.69078	0.994;0.997	D;D	0.66602	0.924;0.945	T	0.49495	-0.8934	10	0.33940	T	0.23	.	10.7777	0.46358	0.9242:0.0:0.0758:0.0	.	1374;1374	P78509-2;P78509	.;RELN_HUMAN	D	1374	ENSP00000392423:V1374D;ENSP00000345694:V1374D;ENSP00000388446:V1374D	ENSP00000345694:V1374D	V	-	2	0	RELN	103017303	0.989000	0.36119	0.998000	0.56505	0.997000	0.91878	4.561000	0.60809	1.034000	0.39945	0.460000	0.39030	GTT		PASS	0.428	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		100	273	100	273	---	---	---	---
RINT1	60561	broad.mit.edu	37	7	105207724	105207724	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:105207724A>T	ENST00000257700.2	+	15	2576	c.2345A>T	c.(2344-2346)aAt>aTt	p.N782I	EFCAB10_ENST00000480514.1_Intron|EFCAB10_ENST00000486180.1_3'UTR|EFCAB10_ENST00000490493.1_5'UTR|EFCAB10_ENST00000485614.1_Intron|EFCAB10_ENST00000460135.1_3'UTR	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	782	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.N782I(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATTCTACTTAATTTGAGGACA	0.378																																						uc003vda.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(2344-2346)AAT>ATT		RAD50 interactor 1							67.0	66.0	66.0					7																	105207724		2203	4300	6503	SO:0001583	missense	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105207724A>T	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.2345A>T	7.37:g.105207724A>T	ENSP00000257700:p.Asn782Ile					RINT1_uc010ljj.1_Missense_Mutation_p.N357I|EFCAB10_uc003vdb.2_Intron|EFCAB10_uc003vdc.3_3'UTR|uc003vdd.1_5'Flank	p.N782I	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN			15	2576	+			782			RINT1/TIP20.		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	c.2345A>T	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.210478	0.79240	.	.	ENSG00000135249	ENST00000257700	T	0.31769	1.48	5.98	5.98	0.97165	.	0.082859	0.85682	D	0.000000	T	0.45895	0.1365	M	0.62723	1.935	0.80722	D	1	D	0.60160	0.987	P	0.57846	0.828	T	0.33574	-0.9863	10	0.35671	T	0.21	-27.8465	12.2592	0.54640	0.9324:0.0:0.0676:0.0	.	782	Q6NUQ1	RINT1_HUMAN	I	782	ENSP00000257700:N782I	ENSP00000257700:N782I	N	+	2	0	RINT1	104994960	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.867000	0.56047	2.289000	0.77006	0.482000	0.46254	AAT		PASS	0.378	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		47	90	47	90	---	---	---	---
GPR22	2845	broad.mit.edu	37	7	107115495	107115495	+	Silent	SNP	T	T	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:107115495T>A	ENST00000304402.4	+	3	2333	c.990T>A	c.(988-990)tcT>tcA	p.S330S	COG5_ENST00000393603.2_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000347053.3_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	330					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.S330S(1)		large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						CACCAATTTCTGTTTTAAATA	0.353																																						uc003vef.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(988-990)TCT>TCA		G protein-coupled receptor 22							101.0	103.0	102.0					7																	107115495		2203	4300	6503	SO:0001819	synonymous_variant	2845					integral to plasma membrane	G-protein coupled receptor activity	g.chr7:107115495T>A	U66581	CCDS5744.1	7q22-q31.1	2012-08-21			ENSG00000172209	ENSG00000172209		"""GPCR / Class A : Orphans"""	4477	protein-coding gene	gene with protein product		601910				9073069	Standard	NM_005295		Approved		uc003vef.3	Q99680	OTTHUMG00000154902	ENST00000304402.4:c.990T>A	7.37:g.107115495T>A						COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron	p.S330S	NM_005295	NP_005286	Q99680	GPR22_HUMAN			3	2336	+			330			Helical; Name=6; (Potential).		O14554	Silent	SNP	ENST00000304402.4	37	c.990T>A	CCDS5744.1																																																																																				PASS	0.353	GPR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337598.1			63	134	63	134	---	---	---	---
SPAM1	6677	broad.mit.edu	37	7	123594310	123594310	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:123594310A>G	ENST00000439500.1	+	4	1299	c.686A>G	c.(685-687)tAt>tGt	p.Y229C	SPAM1_ENST00000340011.5_Missense_Mutation_p.Y229C|SPAM1_ENST00000402183.2_Missense_Mutation_p.Y229C|SPAM1_ENST00000460182.1_Missense_Mutation_p.Y229C|SPAM1_ENST00000223028.7_Missense_Mutation_p.Y229C	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	229					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.Y229C(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AACCATCACTATAAGAAACCC	0.388																																						uc003vld.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|kidney(1)	4						c.(685-687)TAT>TGT		sperm adhesion molecule 1 isoform 2	Hyaluronidase(DB00070)						87.0	90.0	89.0					7																	123594310		2203	4300	6503	SO:0001583	missense	6677				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123594310A>G	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.686A>G	7.37:g.123594310A>G	ENSP00000402123:p.Tyr229Cys					SPAM1_uc003vle.2_Missense_Mutation_p.Y229C|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.Y229C|SPAM1_uc010lku.2_Missense_Mutation_p.Y229C	p.Y229C	NM_153189	NP_694859	P38567	HYALP_HUMAN			4	1088	+			229					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.686A>G	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.430898	0.62844	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	6.17	-4.3	0.03710	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.523945	0.22752	N	0.056076	T	0.47600	0.1454	M	0.90369	3.11	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.74023	0.982;0.982	T	0.37150	-0.9718	9	.	.	.	-15.6284	7.8426	0.29408	0.3188:0.2007:0.0:0.4806	.	229;229	Q8TC30;P38567	.;HYALP_HUMAN	C	229	ENSP00000386028:Y229C;ENSP00000417934:Y229C;ENSP00000345849:Y229C;ENSP00000402123:Y229C;ENSP00000223028:Y229C	.	Y	+	2	0	SPAM1	123381546	0.245000	0.23899	0.000000	0.03702	0.147000	0.21601	0.811000	0.27198	-0.512000	0.06505	0.533000	0.62120	TAT		PASS	0.388	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			103	184	103	184	---	---	---	---
MKLN1	4289	broad.mit.edu	37	7	131122659	131122659	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:131122659G>C	ENST00000352689.6	+	10	1116	c.1076G>C	c.(1075-1077)aGt>aCt	p.S359T	MKLN1_ENST00000421797.2_Missense_Mutation_p.S267T	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	359					signal transduction (GO:0007165)	cytoplasm (GO:0005737)		p.S359T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TCTCTGAAAAGTGACTTCTAT	0.413																																						uc011kpm.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1075-1077)AGT>ACT		muskelin 1, intracellular mediator containing							235.0	224.0	228.0					7																	131122659		2203	4300	6503	SO:0001583	missense	4289				signal transduction	cytoplasm	protein binding	g.chr7:131122659G>C	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.1076G>C	7.37:g.131122659G>C	ENSP00000323527:p.Ser359Thr					MKLN1_uc011kpl.1_Missense_Mutation_p.S336T|MKLN1_uc010lmh.2_Missense_Mutation_p.S359T|MKLN1_uc003vqs.2_Missense_Mutation_p.S152T	p.S359T	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN			10	1140	+	Melanoma(18;0.162)		359			Kelch 2.		A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Missense_Mutation	SNP	ENST00000352689.6	37	c.1076G>C	CCDS34754.1	.	.	.	.	.	.	.	.	.	.	G	33	5.200806	0.94997	.	.	ENSG00000128585	ENST00000421797;ENST00000352689	T;T	0.68479	-0.33;-0.33	5.83	5.83	0.93111	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.79275	0.4418	M	0.76002	2.32	0.80722	D	1	P;D;D	0.58268	0.782;0.982;0.982	P;P;P	0.56088	0.542;0.791;0.791	T	0.80430	-0.1386	10	0.62326	D	0.03	-18.513	19.1072	0.93301	0.0:0.0:1.0:0.0	.	359;336;267	Q9UL63;B4DG30;C9J7E8	MKLN1_HUMAN;.;.	T	267;359	ENSP00000398094:S267T;ENSP00000323527:S359T	ENSP00000323527:S359T	S	+	2	0	MKLN1	130773199	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.763000	0.94921	0.555000	0.69702	AGT		PASS	0.413	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		5	427	5	427	---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138529070	138529070	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:138529070C>A	ENST00000422774.1	-	18	5492	c.5444G>T	c.(5443-5445)gGt>gTt	p.G1815V	KIAA1549_ENST00000242365.4_Missense_Mutation_p.G1765V|KIAA1549_ENST00000440172.1_Missense_Mutation_p.G1815V			Q9HCM3	K1549_HUMAN	KIAA1549	1815						integral component of membrane (GO:0016021)		p.G1765V(1)|p.G1815V(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ACCTGTGGTACCCCCGACAGG	0.557			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	2	Substitution - Missense(2)		lung(2)	central_nervous_system(229)|pancreas(1)	230						c.(5443-5445)GGT>GTT		hypothetical protein LOC57670 isoform 1							28.0	31.0	30.0					7																	138529070		1886	4108	5994	SO:0001583	missense	57670					integral to membrane		g.chr7:138529070C>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.5444G>T	7.37:g.138529070C>A	ENSP00000416040:p.Gly1815Val					KIAA1549_uc011kqi.1_Missense_Mutation_p.G599V|KIAA1549_uc003vuk.3_Missense_Mutation_p.G1765V|KIAA1549_uc011kqj.1_Missense_Mutation_p.G1815V|KIAA1549_uc011kqk.1_Missense_Mutation_p.G599V	p.G1815V	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			18	5493	-			1815					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.5444G>T	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.625735	0.87560	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.26223	1.75;1.76;1.8	5.56	5.56	0.83823	.	0.145914	0.64402	D	0.000006	T	0.49236	0.1545	M	0.61703	1.905	0.80722	D	1	D;P;D;P	0.71674	0.997;0.928;0.998;0.928	P;P;D;P	0.68039	0.902;0.526;0.955;0.526	T	0.46638	-0.9177	10	0.72032	D	0.01	.	18.0992	0.89500	0.0:1.0:0.0:0.0	.	1815;599;1815;599	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	V	1815;1765;1815	ENSP00000406661:G1815V;ENSP00000242365:G1765V;ENSP00000416040:G1815V	ENSP00000242365:G1765V	G	-	2	0	KIAA1549	138179610	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.451000	0.73481	2.635000	0.89317	0.650000	0.86243	GGT		PASS	0.557	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			7	42	7	42	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	146536991	146536991	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:146536991A>G	ENST00000361727.3	+	3	913	c.397A>G	c.(397-399)Atc>Gtc	p.I133V		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	133	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				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.I133V(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)			AGATGGGAATATCTGGGTAAG	0.403										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(397-399)ATC>GTC		cell recognition molecule Caspr2 precursor							72.0	69.0	70.0					7																	146536991		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146536991A>G	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.397A>G	7.37:g.146536991A>G	ENSP00000354778:p.Ile133Val	HNSCC(39;0.1)					p.I133V	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		3	913	+	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)	133			F5/8 type C.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.397A>G	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	A	13.49	2.253062	0.39797	.	.	ENSG00000174469	ENST00000361727	D	0.97138	-4.26	5.72	5.72	0.89469	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.56097	D	0.000036	D	0.92831	0.7720	N	0.25144	0.715	0.80722	D	1	B	0.14012	0.009	B	0.18561	0.022	D	0.89862	0.4017	10	0.11182	T	0.66	.	14.8289	0.70132	1.0:0.0:0.0:0.0	.	133	Q9UHC6	CNTP2_HUMAN	V	133	ENSP00000354778:I133V	ENSP00000354778:I133V	I	+	1	0	CNTNAP2	146167924	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	4.499000	0.60380	2.181000	0.69327	0.528000	0.53228	ATC		PASS	0.403	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			13	41	13	41	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	147092866	147092866	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:147092866T>C	ENST00000361727.3	+	10	2180	c.1664T>C	c.(1663-1665)aTa>aCa	p.I555T		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	555	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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.I555T(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)			TGTGCGATCATAGACAGGTAA	0.413										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1663-1665)ATA>ACA		cell recognition molecule Caspr2 precursor							134.0	118.0	124.0					7																	147092866		2203	4299	6502	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147092866T>C	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.1664T>C	7.37:g.147092866T>C	ENSP00000354778:p.Ile555Thr	HNSCC(39;0.1)					p.I555T	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		10	2180	+	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)	555			EGF-like 1.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1664T>C	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	T	14.37	2.516606	0.44763	.	.	ENSG00000174469	ENST00000361727	T	0.76060	-0.99	5.27	5.27	0.74061	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.64713	0.2623	L	0.41415	1.275	0.80722	D	1	B	0.22003	0.063	B	0.24394	0.053	T	0.59484	-0.7446	10	0.11182	T	0.66	.	14.0553	0.64764	0.0:0.0:0.0:1.0	.	555	Q9UHC6	CNTP2_HUMAN	T	555	ENSP00000354778:I555T	ENSP00000354778:I555T	I	+	2	0	CNTNAP2	146723799	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.576000	0.82467	2.004000	0.58718	0.482000	0.46254	ATA		PASS	0.413	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			65	156	65	156	---	---	---	---
ZNF783	100289678	broad.mit.edu	37	7	148964225	148964225	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:148964225A>G	ENST00000434415.1	+	4	748	c.585A>G	c.(583-585)atA>atG	p.I195M		NM_001195220.1	NP_001182149.1	Q6ZMS7	ZN783_HUMAN	zinc finger family member 783	195	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I195M(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			TCACCCGGATAGAGAGGGGAG	0.532																																						uc003wfr.3																			1	Substitution - Missense(1)		lung(1)										Homo sapiens cDNA FLJ36716 fis, clone UTERU2010651.							54.0	57.0	56.0					7																	148964225		2162	4280	6442	SO:0001583	missense	0							g.chr7:148964225A>G	AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946		"""Zinc fingers, C2H2-type"", ""-"""	27222	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001195220		Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000434415.1:c.585A>G	7.37:g.148964225A>G	ENSP00000410890:p.Ile195Met													4		+								C9J9J2	RNA	SNP	ENST00000434415.1	37	c.748A>G	CCDS56519.1	.	.	.	.	.	.	.	.	.	.	A	10.71	1.427053	0.25726	.	.	ENSG00000204946	ENST00000434415	T	0.00824	5.65	4.66	-4.01	0.04045	.	0.694548	0.11989	N	0.510074	T	0.00754	0.0025	N	0.19112	0.55	0.80722	D	1	.	.	.	.	.	.	T	0.59773	-0.7391	8	0.19590	T	0.45	-6.756	5.2365	0.15448	0.5201:0.0:0.3243:0.1556	.	.	.	.	M	195	ENSP00000410890:I195M	ENSP00000367291:I195M	I	+	3	3	ZNF783	148595158	0.000000	0.05858	0.982000	0.44146	0.987000	0.75469	-2.147000	0.01293	-0.321000	0.08627	0.454000	0.30748	ATA		PASS	0.532	ZNF783-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352715.1	NM_001195220		22	37	22	37	---	---	---	---
GIMAP1	170575	broad.mit.edu	37	7	150418003	150418003	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:150418003G>T	ENST00000307194.5	+	3	1051	c.911G>T	c.(910-912)gGg>gTg	p.G304V		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	304					B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)	p.G304V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCGGAGGTCGGGCCTGACTGA	0.617																																						uc003whq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(910-912)GGG>GTG		GTPase, IMAP family member 1							12.0	13.0	13.0					7																	150418003		1851	3682	5533	SO:0001583	missense	170575					endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr7:150418003G>T	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.911G>T	7.37:g.150418003G>T	ENSP00000302833:p.Gly304Val					GIMAP1_uc003whp.2_Missense_Mutation_p.G312V	p.G304V	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	998	+			304			Extracellular (Potential).		B2RCI3|Q8NAZ0	Missense_Mutation	SNP	ENST00000307194.5	37	c.911G>T	CCDS5906.1	.	.	.	.	.	.	.	.	.	.	G	1.521	-0.546910	0.04024	.	.	ENSG00000213203	ENST00000307194	T	0.05025	3.51	1.09	-2.17	0.07059	.	0.222920	0.15472	U	0.260528	T	0.02929	0.0087	N	0.14661	0.345	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.37361	-0.9709	10	0.33940	T	0.23	.	3.8279	0.08863	0.2053:0.4946:0.3002:0.0	.	304	Q8WWP7	GIMA1_HUMAN	V	304	ENSP00000302833:G304V	ENSP00000302833:G304V	G	+	2	0	GIMAP1	150048936	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.244000	0.08903	-1.205000	0.02645	-0.894000	0.02916	GGG		PASS	0.617	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		9	24	9	24	---	---	---	---
PIWIL2	55124	broad.mit.edu	37	8	22138668	22138668	+	Silent	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr8:22138668G>A	ENST00000454009.2	+	3	743	c.234G>A	c.(232-234)ctG>ctA	p.L78L	PIWIL2_ENST00000521356.1_Silent_p.L78L|PIWIL2_ENST00000356766.6_Silent_p.L78L	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	78					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)	p.L78L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TCCGAGGCCTGGGCATTGAAA	0.423																																						uc003xbn.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(232-234)CTG>CTA		piwi-like 2							89.0	89.0	89.0					8																	22138668		2203	4300	6503	SO:0001819	synonymous_variant	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22138668G>A	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.234G>A	8.37:g.22138668G>A						PIWIL2_uc011kzf.1_Silent_p.L78L|PIWIL2_uc010ltv.2_Silent_p.L78L	p.L78L	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	3	382	+			78					A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Silent	SNP	ENST00000454009.2	37	c.234G>A	CCDS6029.1																																																																																				PASS	0.423	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			66	72	66	72	---	---	---	---
EBF2	64641	broad.mit.edu	37	8	25897593	25897593	+	Nonsense_Mutation	SNP	T	T	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr8:25897593T>A	ENST00000520164.1	-	5	970	c.433A>T	c.(433-435)Aag>Tag	p.K145*	EBF2_ENST00000408929.3_5'UTR	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	145					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K145*(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TCCGGATTCTTATTCTGTCCC	0.557																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	uc003xes.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)|skin(1)	4						c.(433-435)AAG>TAG		early B-cell factor 2							141.0	141.0	141.0					8																	25897593		1945	4141	6086	SO:0001587	stop_gained	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25897593T>A	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.433A>T	8.37:g.25897593T>A	ENSP00000430241:p.Lys145*					PPP2R2A_uc003xek.2_Intron|EBF2_uc003xet.1_Nonsense_Mutation_p.K145*	p.K145*	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	5	450	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	145					A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Nonsense_Mutation	SNP	ENST00000520164.1	37	c.433A>T	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	T	44	10.528061	0.99422	.	.	ENSG00000221818	ENST00000520164	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.6396	15.6119	0.76727	0.0:0.0:0.0:1.0	.	.	.	.	X	145	.	ENSP00000430241:K145X	K	-	1	0	EBF2	25953510	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.943000	0.87716	2.080000	0.62538	0.533000	0.62120	AAG		PASS	0.557	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		7	168	7	168	---	---	---	---
ADRA1A	148	broad.mit.edu	37	8	26722124	26722125	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr8:26722124_26722125GG>TT	ENST00000519229.1	-	1	368_369	c.362_363CC>AA	c.(361-363)tCC>tAA	p.S121*	ADRA1A_ENST00000354550.4_Nonsense_Mutation_p.S121*|ADRA1A_ENST00000380573.3_Nonsense_Mutation_p.S121*|ADRA1A_ENST00000276393.4_Nonsense_Mutation_p.S121*|ADRA1A_ENST00000380581.2_Nonsense_Mutation_p.S121*|ADRA1A_ENST00000380587.1_Nonsense_Mutation_p.S121*|ADRA1A_ENST00000380586.1_Nonsense_Mutation_p.S121*|ADRA1A_ENST00000380572.3_Nonsense_Mutation_p.S121*|ADRA1A_ENST00000358857.5_Nonsense_Mutation_p.S121*|ADRA1A_ENST00000380582.3_Nonsense_Mutation_p.S121*			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	191					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)	p.S121Y(5)|p.S121*(5)|p.S121S(5)		breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	AGCGGTCGATGGAGATGATGCA	0.629																																						uc003xfh.1																			15	Substitution - Nonsense(5)|Substitution - Missense(5)|Substitution - coding silent(5)		lung(15)	breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(361-363)TCC>TCA|c.(361-363)TCC>TAC		alpha-1A-adrenergic receptor isoform 1	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)																																			SO:0001587	stop_gained	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26722124G>T|g.chr8:26722125G>T	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.362_363delinsTT	8.37:g.26722124_26722125delinsTT	ENSP00000430793:p.Ser121*					ADRA1A_uc003xfc.1_Silent_p.S121S|ADRA1A_uc010lul.1_Silent_p.S121S|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Silent_p.S121S|ADRA1A_uc010lum.1_Silent_p.S121S|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Silent_p.S121S|ADRA1A_uc003xfc.1_Missense_Mutation_p.S121Y|ADRA1A_uc010lul.1_Missense_Mutation_p.S121Y|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Missense_Mutation_p.S121Y|ADRA1A_uc010lum.1_Missense_Mutation_p.S121Y|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Missense_Mutation_p.S121Y	p.S121S|p.S121Y	NM_000680	NP_000671	P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	1	799|798	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	121			Helical; Name=3; (By similarity).		Q9NPY0	Silent|Missense_Mutation	SNP	ENST00000519229.1	37	c.363C>A|c.362C>A																																																																																					PASS	0.629	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		24	45|46	24	45	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35583824	35583824	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr8:35583824G>T	ENST00000404895.2	+	10	1786	c.1458G>T	c.(1456-1458)caG>caT	p.Q486H	UNC5D_ENST00000416672.1_Missense_Mutation_p.Q491H|UNC5D_ENST00000453357.2_Missense_Mutation_p.Q481H|UNC5D_ENST00000287272.2_Missense_Mutation_p.Q417H|UNC5D_ENST00000449677.1_Missense_Mutation_p.Q62H|UNC5D_ENST00000420357.1_Missense_Mutation_p.Q419H	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	486					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.Q481H(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGAAAGTCCAGAGCTCGTTCA	0.502																																						uc003xjr.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(1456-1458)CAG>CAT		unc-5 homolog D precursor							69.0	68.0	68.0					8																	35583824		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35583824G>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1458G>T	8.37:g.35583824G>T	ENSP00000385143:p.Gln486His					UNC5D_uc003xjs.1_Missense_Mutation_p.Q481H|UNC5D_uc003xju.1_Missense_Mutation_p.Q62H|UNC5D_uc003xjt.1_Missense_Mutation_p.Q244H	p.Q486H	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	10	1786	+			486			Cytoplasmic (Potential).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.1458G>T	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921907	0.33908	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.55930	0.53;0.98;0.98;0.53;0.49;2.49	6.04	6.04	0.98038	.	0.213610	0.49916	D	0.000126	T	0.36524	0.0970	N	0.10809	0.05	0.58432	D	0.999994	B;B;B;B	0.18610	0.017;0.017;0.029;0.017	B;B;B;B	0.15052	0.005;0.005;0.012;0.005	T	0.21518	-1.0243	10	0.13853	T	0.58	-17.9322	20.5948	0.99439	0.0:0.0:1.0:0.0	.	62;491;481;486	E9PDS8;C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;.;UNC5D_HUMAN	H	486;419;417;491;481;62	ENSP00000385143:Q486H;ENSP00000392739:Q419H;ENSP00000287272:Q417H;ENSP00000412652:Q491H;ENSP00000394303:Q481H;ENSP00000397211:Q62H	ENSP00000287272:Q417H	Q	+	3	2	UNC5D	35703366	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.753000	0.55180	2.873000	0.98535	0.563000	0.77884	CAG		PASS	0.502	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			34	331	34	331	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52320773	52320773	+	Silent	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr8:52320773C>T	ENST00000356297.4	-	17	3511	c.3411G>A	c.(3409-3411)tcG>tcA	p.S1137S	PXDNL_ENST00000543296.1_Silent_p.S1137S	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1137					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.S336S(1)|p.S1137S(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGGTGGCAGCCGAATCCACGG	0.522																																						uc003xqu.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(3409-3411)TCG>TCA		peroxidasin homolog-like precursor							83.0	88.0	86.0					8																	52320773		1878	4111	5989	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52320773C>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3411G>A	8.37:g.52320773C>T						PXDNL_uc003xqt.3_RNA	p.S1137S	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	3512	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1137					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.3411G>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	0.119	-1.128566	0.01756	.	.	ENSG00000147485	ENST00000522933	.	.	.	3.82	1.45	0.22620	.	.	.	.	.	T	0.55689	0.1936	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49283	-0.8956	4	.	.	.	.	8.3575	0.32340	0.0:0.7401:0.0:0.2599	.	.	.	.	Q	256	.	.	R	-	2	0	PXDNL	52483326	0.999000	0.42202	0.025000	0.17156	0.004000	0.04260	1.136000	0.31467	0.560000	0.29169	0.655000	0.94253	CGG		PASS	0.522	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		23	169	23	169	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52321320	52321320	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr8:52321320A>T	ENST00000356297.4	-	17	2964	c.2864T>A	c.(2863-2865)cTg>cAg	p.L955Q	PXDNL_ENST00000543296.1_Missense_Mutation_p.L955Q	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	955					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.L955Q(1)|p.L154Q(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GTCCCCGGCCAGGAAACAGGG	0.652																																						uc003xqu.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(2863-2865)CTG>CAG		peroxidasin homolog-like precursor							12.0	13.0	13.0					8																	52321320		1965	4140	6105	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321320A>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2864T>A	8.37:g.52321320A>T	ENSP00000348645:p.Leu955Gln					PXDNL_uc003xqt.3_RNA	p.L955Q	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	2965	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	955					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.2864T>A	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.53|11.53	1.666732|1.666732	0.29604|0.29604	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000356297;ENST00000543296|ENST00000522933	T;T|.	0.75260|.	-0.92;-0.92|.	4.02|4.02	-2.58|-2.58	0.06228|0.06228	.|.	0.175082|.	0.27159|.	N|.	0.020655|.	T|T	0.47581|0.47581	0.1453|0.1453	M|M	0.78801|0.78801	2.425|2.425	0.32277|0.32277	N|N	0.568049|0.568049	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	T|T	0.53767|0.53767	-0.8392|-0.8392	10|5	0.87932|.	D|.	0|.	.|.	1.1211|1.1211	0.01725|0.01725	0.4422:0.1571:0.0955:0.3051|0.4422:0.1571:0.0955:0.3051	.|.	955|.	A1KZ92|.	PXDNL_HUMAN|.	Q|R	955|74	ENSP00000348645:L955Q;ENSP00000444865:L955Q|.	ENSP00000348645:L955Q|.	L|W	-|-	2|1	0|0	PXDNL|PXDNL	52483873|52483873	1.000000|1.000000	0.71417|0.71417	0.001000|0.001000	0.08648|0.08648	0.003000|0.003000	0.03518|0.03518	6.266000|6.266000	0.72540|0.72540	-0.881000|-0.881000	0.03992|0.03992	-0.256000|-0.256000	0.11100|0.11100	CTG|TGG		PASS	0.652	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		11	22	11	22	---	---	---	---
PCMTD1	115294	broad.mit.edu	37	8	52773687	52773687	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr8:52773687C>A	ENST00000360540.5	-	3	431	c.25G>T	c.(25-27)Gaa>Taa	p.E9*	PCMTD1_ENST00000521344.1_Nonsense_Mutation_p.E9*|PCMTD1_ENST00000519559.1_Intron|PCMTD1_ENST00000544451.1_Intron|PCMTD1_ENST00000522514.1_Nonsense_Mutation_p.E9*	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	9						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.E9*(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TCATTATCTTCCCCAGCACTC	0.343																																						uc003xqx.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(25-27)GAA>TAA		protein-L-isoaspartate (D-aspartate)							40.0	41.0	40.0					8																	52773687		2202	4300	6502	SO:0001587	stop_gained	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52773687C>A		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.25G>T	8.37:g.52773687C>A	ENSP00000353739:p.Glu9*					PCMTD1_uc003xqw.3_Nonsense_Mutation_p.E9*|PCMTD1_uc011ldn.1_Intron|PCMTD1_uc010lya.2_Intron|PCMTD1_uc011ldo.1_Nonsense_Mutation_p.E9*	p.E9*	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN			2	366	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	9					Q96FK9	Nonsense_Mutation	SNP	ENST00000360540.5	37	c.25G>T	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	C	38	6.753341	0.97813	.	.	ENSG00000168300	ENST00000360540;ENST00000522514;ENST00000521344	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-29.3437	19.2398	0.93877	0.0:1.0:0.0:0.0	.	.	.	.	X	9	.	ENSP00000353739:E9X	E	-	1	0	PCMTD1	52936240	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.312000	0.78968	2.618000	0.88619	0.650000	0.86243	GAA		PASS	0.343	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		114	93	114	93	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55541589	55541589	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr8:55541589G>T	ENST00000220676.1	+	4	5295	c.5147G>T	c.(5146-5148)gGt>gTt	p.G1716V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1716					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.G1716V(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TATTGTAGGGGTGACATTGTA	0.403																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(5146-5148)GGT>GTT		retinitis pigmentosa RP1 protein							148.0	145.0	146.0					8																	55541589		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541589G>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5147G>T	8.37:g.55541589G>T	ENSP00000220676:p.Gly1716Val					RP1_uc011ldy.1_Intron	p.G1716V	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5295	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1716						Missense_Mutation	SNP	ENST00000220676.1	37	c.5147G>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	4.094	0.015389	0.07959	.	.	ENSG00000104237	ENST00000220676	T	0.20598	2.06	5.93	-2.15	0.07102	.	0.802103	0.10786	N	0.634358	T	0.14399	0.0348	L	0.36672	1.1	0.18873	N	0.999989	P	0.34462	0.454	B	0.32805	0.153	T	0.21314	-1.0249	10	0.62326	D	0.03	-0.4243	7.6127	0.28139	0.6832:0.1514:0.1654:0.0	.	1716	P56715	RP1_HUMAN	V	1716	ENSP00000220676:G1716V	ENSP00000220676:G1716V	G	+	2	0	RP1	55704142	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.644000	0.05415	-0.252000	0.09528	-0.136000	0.14681	GGT		PASS	0.403	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		65	278	65	278	---	---	---	---
TTPA	7274	broad.mit.edu	37	8	63976811	63976811	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr8:63976811A>G	ENST00000260116.4	-	4	648	c.617T>C	c.(616-618)gTc>gCc	p.V206A	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	206	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)	p.V206A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	CATGGAAAAGACAGCATGGAA	0.323																																						uc003xux.1																			1	Substitution - Missense(1)		lung(1)		0						c.(616-618)GTC>GCC		tocopherol (alpha) transfer protein	Vitamin E(DB00163)						85.0	84.0	84.0					8																	63976811		2203	4300	6503	SO:0001583	missense	7274				lipid metabolic process		transporter activity|vitamin E binding	g.chr8:63976811A>G	BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"""ataxia (Friedreich-like) with vitamin E deficiency"""	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.617T>C	8.37:g.63976811A>G	ENSP00000260116:p.Val206Ala						p.V206A	NM_000370	NP_000361	P49638	TTPA_HUMAN			4	649	-	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)	206			CRAL-TRIO.		Q71V64	Missense_Mutation	SNP	ENST00000260116.4	37	c.617T>C	CCDS6178.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.244270	0.79912	.	.	ENSG00000137561	ENST00000260116	T	0.73789	-0.78	5.67	4.48	0.54585	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.121669	0.56097	D	0.000033	T	0.72827	0.3509	L	0.54965	1.715	0.53688	D	0.999977	P	0.35656	0.514	B	0.40228	0.323	T	0.73623	-0.3924	10	0.87932	D	0	.	12.7213	0.57144	0.8625:0.1375:0.0:0.0	.	206	P49638	TTPA_HUMAN	A	206	ENSP00000260116:V206A	ENSP00000260116:V206A	V	-	2	0	TTPA	64139365	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	8.696000	0.91302	0.939000	0.37446	0.533000	0.62120	GTC		PASS	0.323	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378460.1	NM_000370		32	154	32	154	---	---	---	---
C8orf44	56260	broad.mit.edu	37	8	67590143	67590143	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr8:67590143C>T	ENST00000519561.1	+	2	351	c.200C>T	c.(199-201)cCa>cTa	p.P67L	C8orf44_ENST00000390159.3_Missense_Mutation_p.P67L|C8orf44_ENST00000521889.1_Missense_Mutation_p.P67L|C8orf44-SGK3_ENST00000519289.1_Intron|C8orf44-SGK3_ENST00000520044.1_Intron	NM_019607.2	NP_062553.1	Q96CB5	CH044_HUMAN	chromosome 8 open reading frame 44	67						nucleus (GO:0005634)		p.P67L(1)		endometrium(1)|kidney(1)|lung(2)	4	Breast(64;0.186)		Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149)			ccagcctggccaacatggcga	0.542																																						uc003xwo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(199-201)CCA>CTA		hypothetical protein LOC56260							13.0	13.0	13.0					8																	67590143		2199	4290	6489	SO:0001583	missense	56260							g.chr8:67590143C>T	AK002129	CCDS6193.1	8q13.1	2012-05-16		2005-08-09	ENSG00000213865	ENSG00000213865			25646	protein-coding gene	gene with protein product						12477932	Standard	NM_019607		Approved	FLJ11267	uc003xwo.2	Q96CB5	OTTHUMG00000164562	ENST00000519561.1:c.200C>T	8.37:g.67590143C>T	ENSP00000428002:p.Pro67Leu					SGK3_uc003xwp.2_Intron|C8orf44_uc003xwq.1_Missense_Mutation_p.P67L	p.P67L	NM_019607	NP_062553	Q96CB5	CH044_HUMAN	Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149)		2	353	+	Breast(64;0.186)		67					Q9NUM6	Missense_Mutation	SNP	ENST00000519561.1	37	c.200C>T	CCDS6193.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.577470	0.28180	.	.	ENSG00000213865	ENST00000519561;ENST00000521889;ENST00000390159	T;T	0.37058	1.22;1.22	0.235	0.235	0.15431	.	.	.	.	.	T	0.30293	0.0760	L	0.45581	1.43	0.09310	N	1	D	0.55172	0.97	B	0.43680	0.427	T	0.18178	-1.0345	8	0.66056	D	0.02	.	.	.	.	.	67	Q96CB5	CH044_HUMAN	L	67	ENSP00000428002:P67L;ENSP00000375087:P67L	ENSP00000375087:P67L	P	+	2	0	C8orf44	67752697	0.002000	0.14202	0.004000	0.12327	0.004000	0.04260	0.469000	0.22067	0.308000	0.22923	0.313000	0.20887	CCA		PASS	0.542	C8orf44-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379242.2	NM_019607		6	18	6	18	---	---	---	---
PREX2	80243	broad.mit.edu	37	8	68939533	68939533	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr8:68939533T>C	ENST00000288368.4	+	5	795	c.518T>C	c.(517-519)aTa>aCa	p.I173T	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	173	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.I173T(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATACAAAGAATATGCAAGTAC	0.338																																						uc003xxv.1																			2	Substitution - Missense(2)		lung(2)	skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(517-519)ATA>ACA		DEP domain containing 2 isoform a							134.0	125.0	128.0					8																	68939533		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68939533T>C	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.518T>C	8.37:g.68939533T>C	ENSP00000288368:p.Ile173Thr					PREX2_uc003xxu.1_Missense_Mutation_p.I173T|PREX2_uc011lez.1_Missense_Mutation_p.I108T	p.I173T	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			5	545	+			173			DH.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.518T>C	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.459532	0.84317	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.73789	-0.78	5.66	5.66	0.87406	Guanine-nucleotide dissociation stimulator, CDC24, conserved site (1);Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.90967	0.7160	H	0.96720	3.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.997	D	0.93879	0.7169	10	0.87932	D	0	.	16.2026	0.82095	0.0:0.0:0.0:1.0	.	173;173;173	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	T	173	ENSP00000288368:I173T	ENSP00000288368:I173T	I	+	2	0	PREX2	69102087	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.544000	0.82117	2.285000	0.76669	0.533000	0.62120	ATA		PASS	0.338	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		45	141	45	141	---	---	---	---
CRISPLD1	83690	broad.mit.edu	37	8	75898239	75898239	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr8:75898239G>A	ENST00000262207.4	+	2	485	c.17G>A	c.(16-18)cGg>cAg	p.R6Q	CRISPLD1_ENST00000519798.1_3'UTR	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	6					face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)		p.R6Q(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TGTACCGCGCGGGAGTGGCTC	0.463																																						uc003yan.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(16-18)CGG>CAG		cysteine-rich secretory protein LCCL domain							141.0	152.0	148.0					8																	75898239		2203	4300	6503	SO:0001583	missense	83690					extracellular region		g.chr8:75898239G>A	AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.17G>A	8.37:g.75898239G>A	ENSP00000262207:p.Arg6Gln						p.R6Q	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)		2	392	+	Breast(64;0.0799)		6					B2RA60|B7Z929	Missense_Mutation	SNP	ENST00000262207.4	37	c.17G>A	CCDS6219.1	.	.	.	.	.	.	.	.	.	.	G	5.192	0.220980	0.09863	.	.	ENSG00000121005	ENST00000262207;ENST00000520277	T;T	0.58060	0.36;2.01	5.37	-0.829	0.10796	.	1.173110	0.05930	N	0.634973	T	0.24699	0.0599	N	0.03115	-0.41	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.18493	-1.0335	10	0.08837	T	0.75	.	7.0549	0.25093	0.6801:0.1573:0.1626:0.0	.	6	Q9H336	CRLD1_HUMAN	Q	6	ENSP00000262207:R6Q;ENSP00000430504:R6Q	ENSP00000262207:R6Q	R	+	2	0	CRISPLD1	76060794	0.972000	0.33761	0.453000	0.27007	0.992000	0.81027	0.991000	0.29654	-0.173000	0.10761	0.563000	0.77884	CGG		PASS	0.463	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461		113	365	113	365	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77766792	77766792	+	Silent	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr8:77766792G>A	ENST00000521891.2	+	10	8083	c.7635G>A	c.(7633-7635)ccG>ccA	p.P2545P	ZFHX4_ENST00000050961.6_Silent_p.P2500P|ZFHX4_ENST00000455469.2_Silent_p.P2500P|ZFHX4_ENST00000518282.1_Silent_p.P2519P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2500					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.P2529P(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCAACAATCCGCTGATGACTG	0.537										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(7498-7500)CCG>CCA		zinc finger homeodomain 4							113.0	111.0	112.0					8																	77766792		1974	4152	6126	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766792G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7635G>A	8.37:g.77766792G>A		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.P2545P|ZFHX4_uc003yaw.1_Silent_p.P2500P	p.P2500P	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7887	+			2500					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.7500G>A	CCDS47878.2																																																																																				PASS	0.537	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		12	248	12	248	---	---	---	---
RUNX1T1	862	broad.mit.edu	37	8	92983053	92983053	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr8:92983053G>A	ENST00000523629.1	-	11	1826	c.1372C>T	c.(1372-1374)Cgc>Tgc	p.R458C	RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R458C|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R421C|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R431C|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R469C|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R421C|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R421C|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R431C	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	458					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R469C(1)|p.R421C(1)|p.R458C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			ATCGCCTGGCGCTTCACCTCA	0.567																																						uc003yfd.2																			3	Substitution - Missense(3)		lung(3)	lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(1372-1374)CGC>TGC		acute myelogenous leukemia 1 translocation 1							61.0	49.0	53.0					8																	92983053		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92983053G>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1372C>T	8.37:g.92983053G>A	ENSP00000428543:p.Arg458Cys					RUNX1T1_uc003yfc.1_Missense_Mutation_p.R431C|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R421C|RUNX1T1_uc010mao.2_Missense_Mutation_p.R431C|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R469C|RUNX1T1_uc010man.1_Missense_Mutation_p.R83C|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R421C	p.R458C	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		10	1456	-			458					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1372C>T	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009116	0.93346	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.74450	0.3718	M	0.84433	2.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.983;1.0;0.959;0.998	T	0.76926	-0.2778	10	0.72032	D	0.01	-14.8894	20.2181	0.98305	0.0:0.0:1.0:0.0	.	469;421;458;431	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	C	458;431;458;421;421;421;469;431	ENSP00000428543:R458C;ENSP00000379520:R431C;ENSP00000265814:R458C;ENSP00000353504:R421C;ENSP00000390137:R421C;ENSP00000428742:R421C;ENSP00000402257:R469C;ENSP00000430728:R431C	ENSP00000265814:R458C	R	-	1	0	RUNX1T1	93052229	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.695000	0.84257	2.785000	0.95823	0.655000	0.94253	CGC		PASS	0.567	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		28	64	28	64	---	---	---	---
INTS8	55656	broad.mit.edu	37	8	95866063	95866063	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr8:95866063A>G	ENST00000523731.1	+	14	1805	c.1672A>G	c.(1672-1674)Atc>Gtc	p.I558V	INTS8_ENST00000520845.1_3'UTR|INTS8_ENST00000447247.1_Missense_Mutation_p.I558V	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	558					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.I558V(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TAGTGGTGTTATCCTGGGAAT	0.333																																						uc003yhb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1672-1674)ATC>GTC		integrator complex subunit 8							190.0	196.0	194.0					8																	95866063		2203	4300	6503	SO:0001583	missense	55656				snRNA processing	integrator complex	protein binding	g.chr8:95866063A>G	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.1672A>G	8.37:g.95866063A>G	ENSP00000430338:p.Ile558Val					INTS8_uc003yha.1_Missense_Mutation_p.I558V|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Missense_Mutation_p.I385V	p.I558V	NM_017864	NP_060334	Q75QN2	INT8_HUMAN			14	1798	+	Breast(36;1.05e-06)		558					B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	ENST00000523731.1	37	c.1672A>G	CCDS34925.1	.	.	.	.	.	.	.	.	.	.	A	12.95	2.092756	0.36952	.	.	ENSG00000164941	ENST00000523731;ENST00000447247	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.66858	0.2832	L	0.38838	1.175	0.80722	D	1	P;P	0.51791	0.876;0.948	D;D	0.67103	0.927;0.949	T	0.65129	-0.6243	9	0.37606	T	0.19	-7.5292	16.0055	0.80359	1.0:0.0:0.0:0.0	.	558;558	Q75QN2;Q75QN2-2	INT8_HUMAN;.	V	558	.	ENSP00000343274:I558V	I	+	1	0	INTS8	95935239	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.058000	0.76676	2.184000	0.69523	0.533000	0.62120	ATC		PASS	0.333	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		163	221	163	221	---	---	---	---
POP1	10940	broad.mit.edu	37	8	99149122	99149122	+	Silent	SNP	G	G	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr8:99149122G>C	ENST00000401707.2	+	9	1383	c.1302G>C	c.(1300-1302)ctG>ctC	p.L434L	POP1_ENST00000349693.3_Silent_p.L434L	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	434					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)	p.L434L(1)		autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GATTCCGGCTGATTGGGCCAC	0.393																																						uc003yij.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1300-1302)CTG>CTC		processing of precursor 1							187.0	187.0	187.0					8																	99149122		2203	4300	6503	SO:0001819	synonymous_variant	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99149122G>C	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.1302G>C	8.37:g.99149122G>C						POP1_uc011lgv.1_Silent_p.L434L|POP1_uc003yik.2_Silent_p.L434L	p.L434L	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		9	1402	+	Breast(36;1.78e-06)		434					A8K5W9|Q15037	Silent	SNP	ENST00000401707.2	37	c.1302G>C	CCDS6277.1																																																																																				PASS	0.393	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		106	345	106	345	---	---	---	---
DCSTAMP	81501	broad.mit.edu	37	8	105361702	105361702	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr8:105361702G>T	ENST00000297581.2	+	2	971	c.922G>T	c.(922-924)Gtg>Ttg	p.V308L	DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	308					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.V308L(1)									CTGCATCTGGGTGCTGTTTGC	0.468																																						uc003ylx.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|large_intestine(1)|ovary(1)	4						c.(922-924)GTG>TTG		dendritic cell-specific transmembrane protein							176.0	179.0	178.0					8																	105361702		2203	4300	6503	SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361702G>T	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.922G>T	8.37:g.105361702G>T	ENSP00000297581:p.Val308Leu						p.V308L	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		2	971	+			308			Helical; (Potential).		B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	c.922G>T	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	G	8.526	0.869937	0.17322	.	.	ENSG00000164935	ENST00000297581	T	0.30981	1.51	5.5	1.64	0.23874	Dendritic cell-specific transmembrane protein-like (1);	0.506968	0.20977	N	0.082292	T	0.16727	0.0402	L	0.31294	0.92	0.80722	D	1	B	0.12013	0.005	B	0.10450	0.005	T	0.13229	-1.0517	10	0.08381	T	0.77	-3.5572	6.7694	0.23585	0.2128:0.3853:0.4018:0.0	.	308	Q9H295	TM7S4_HUMAN	L	308	ENSP00000297581:V308L	ENSP00000297581:V308L	V	+	1	0	TM7SF4	105430878	1.000000	0.71417	0.998000	0.56505	0.829000	0.46940	1.281000	0.33214	0.024000	0.15214	-0.226000	0.12346	GTG		PASS	0.468	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		139	558	139	558	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110451216	110451216	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr8:110451216T>A	ENST00000378402.5	+	32	3955	c.3851T>A	c.(3850-3852)aTt>aAt	p.I1284N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1284	IPT/TIG 6.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.I1286N(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)			ACCTGCCAGATTCTTCACTGG	0.378										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.(3850-3852)ATT>AAT		fibrocystin L precursor							102.0	99.0	100.0					8																	110451216		1831	4080	5911	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110451216T>A	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.3851T>A	8.37:g.110451216T>A	ENSP00000367655:p.Ile1284Asn	HNSCC(38;0.096)					p.I1284N	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		32	3955	+			1284			Extracellular (Potential).|IPT/TIG 6.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.3851T>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.098405	0.76870	.	.	ENSG00000205038	ENST00000378402	T	0.76968	-1.06	6.07	6.07	0.98685	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	1.028080	0.07691	N	0.938769	T	0.78368	0.4272	M	0.72479	2.2	0.24235	N	0.995385	B	0.10296	0.003	B	0.18263	0.021	T	0.66701	-0.5857	10	0.87932	D	0	.	9.0128	0.36150	0.0:0.0811:0.0:0.9189	.	1284	Q86WI1	PKHL1_HUMAN	N	1284	ENSP00000367655:I1284N	ENSP00000367655:I1284N	I	+	2	0	PKHD1L1	110520392	0.978000	0.34361	0.827000	0.32855	0.988000	0.76386	2.606000	0.46291	2.326000	0.78906	0.533000	0.62120	ATT		PASS	0.378	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		7	253	7	253	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113256797	113256797	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr8:113256797T>A	ENST00000297405.5	-	65	10472	c.10228A>T	c.(10228-10230)Agc>Tgc	p.S3410C	CSMD3_ENST00000455883.2_Missense_Mutation_p.S3241C|CSMD3_ENST00000343508.3_Missense_Mutation_p.S3370C|CSMD3_ENST00000352409.3_Missense_Mutation_p.S3340C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3410	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S3370C(1)|p.S3410C(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						TGTTTACAGCTGTGGGCTATA	0.368										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.(10228-10230)AGC>TGC		CUB and Sushi multiple domains 3 isoform 1							92.0	83.0	86.0					8																	113256797		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113256797T>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.10228A>T	8.37:g.113256797T>A	ENSP00000297405:p.Ser3410Cys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.S2612C|CSMD3_uc003ynt.2_Missense_Mutation_p.S3370C|CSMD3_uc011lhx.1_Missense_Mutation_p.S3241C	p.S3410C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			65	10387	-			3410			Extracellular (Potential).|Sushi 28.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10228A>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.479364	0.44044	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.17	5.17	0.71159	Complement control module (2);Sushi/SCR/CCP (1);	0.366627	0.28544	N	0.014977	T	0.70343	0.3213	M	0.86097	2.795	0.44595	D	0.997567	D;D;D	0.69078	0.987;0.977;0.997	D;P;D	0.68765	0.94;0.838;0.96	T	0.73582	-0.3937	10	0.44086	T	0.13	.	15.1795	0.72945	0.0:0.0:0.0:1.0	.	3241;3410;3370	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	3370;3410;2680;3241;3340	ENSP00000345799:S3370C;ENSP00000297405:S3410C;ENSP00000341558:S2680C;ENSP00000412263:S3241C;ENSP00000343124:S3340C	ENSP00000297405:S3410C	S	-	1	0	CSMD3	113325973	1.000000	0.71417	1.000000	0.80357	0.151000	0.21798	2.339000	0.43965	2.170000	0.68504	0.482000	0.46254	AGC		PASS	0.368	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		74	95	74	95	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113304920	113304920	+	Silent	SNP	A	A	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr8:113304920A>T	ENST00000297405.5	-	55	8878	c.8634T>A	c.(8632-8634)ccT>ccA	p.P2878P	CSMD3_ENST00000455883.2_Silent_p.P2709P|CSMD3_ENST00000343508.3_Silent_p.P2838P|CSMD3_ENST00000352409.3_Silent_p.P2808P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2878	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P2878P(1)|p.P2838P(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						TTGGACTACCAGGGTGACCAC	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - coding silent(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.(8632-8634)CCT>CCA		CUB and Sushi multiple domains 3 isoform 1							98.0	85.0	89.0					8																	113304920		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113304920A>T	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.8634T>A	8.37:g.113304920A>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.P2080P|CSMD3_uc003ynt.2_Silent_p.P2838P|CSMD3_uc011lhx.1_Silent_p.P2709P	p.P2878P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			55	8793	-			2878			Extracellular (Potential).|Sushi 19.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.8634T>A	CCDS6315.1																																																																																				PASS	0.368	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		42	145	42	145	---	---	---	---
CPSF1	29894	broad.mit.edu	37	8	145634410	145634410	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr8:145634410G>C	ENST00000349769.3	-	2	227	c.133C>G	c.(133-135)Cgc>Ggc	p.R45G	GS1-393G12.14_ENST00000607491.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	45					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)	p.R45G(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TCGGCGTCGCGGTTGAGGCGG	0.652																																					NSCLC(133;1088 1848 27708 34777 35269)	uc003zcj.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(133-135)CGC>GGC		cleavage and polyadenylation specific factor 1,							88.0	88.0	88.0					8																	145634410		2203	4300	6503	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145634410G>C	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.133C>G	8.37:g.145634410G>C	ENSP00000339353:p.Arg45Gly					CPSF1_uc011lle.1_Missense_Mutation_p.R45G|CPSF1_uc011llf.1_Missense_Mutation_p.R45G|CPSF1_uc003zcl.1_RNA	p.R45G	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		2	208	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		45					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.133C>G	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117976	0.56505	.	.	ENSG00000071894	ENST00000349769;ENST00000531042	T	0.46063	0.88	5.18	5.18	0.71444	.	0.143577	0.47093	D	0.000254	T	0.32102	0.0818	L	0.28115	0.83	0.38078	D	0.936586	B;B	0.06786	0.001;0.001	B;B	0.12837	0.005;0.008	T	0.13176	-1.0519	10	0.25106	T	0.35	0.2571	16.1609	0.81704	0.0:0.0:1.0:0.0	.	45;45	B4DEF4;Q10570	.;CPSF1_HUMAN	G	45	ENSP00000339353:R45G	ENSP00000339353:R45G	R	-	1	0	CPSF1	145605218	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.039000	0.76544	2.415000	0.81967	0.561000	0.74099	CGC		PASS	0.652	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		147	90	147	90	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14801698	14801698	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr9:14801698G>A	ENST00000380880.3	-	20	4429	c.3646C>T	c.(3646-3648)Cag>Tag	p.Q1216*	FREM1_ENST00000422223.2_Nonsense_Mutation_p.Q1216*|FREM1_ENST00000380881.4_Nonsense_Mutation_p.Q1217*			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1216					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.Q1217*(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCATGTTTCTGGTGAGGGTTG	0.453																																						uc003zlm.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(3646-3648)CAG>TAG		FRAS1 related extracellular matrix 1 precursor							136.0	134.0	135.0					9																	14801698		1964	4163	6127	SO:0001587	stop_gained	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14801698G>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.3646C>T	9.37:g.14801698G>A	ENSP00000370262:p.Gln1216*					FREM1_uc010mic.2_RNA	p.Q1216*	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	20	4236	-			1216			CSPG 8.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Nonsense_Mutation	SNP	ENST00000380880.3	37	c.3646C>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	G	47	13.865404	0.99767	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	.	.	.	5.12	3.14	0.36123	.	0.594339	0.17833	N	0.160478	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-3.9907	12.4565	0.55708	0.0:0.0:0.6973:0.3027	.	.	.	.	X	1217;1216;1216	.	ENSP00000370257:Q1219X	Q	-	1	0	FREM1	14791698	0.894000	0.30519	0.122000	0.21767	0.002000	0.02628	3.508000	0.53378	1.092000	0.41356	0.591000	0.81541	CAG		PASS	0.453	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		26	70	26	70	---	---	---	---
CNTLN	54875	broad.mit.edu	37	9	17416046	17416046	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr9:17416046G>T	ENST00000380647.3	+	18	3057	c.2973G>T	c.(2971-2973)ttG>ttT	p.L991F	CNTLN_ENST00000262360.5_Missense_Mutation_p.L991F|CNTLN_ENST00000425824.1_Missense_Mutation_p.L991F			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	991					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.L991F(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TTATATCCTTGCAACAACAAA	0.313																																						uc003zmz.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2968-2970)TTG>TTT		centlein isoform 1							80.0	75.0	77.0					9																	17416046		1816	4074	5890	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17416046G>T	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.2973G>T	9.37:g.17416046G>T	ENSP00000370021:p.Leu991Phe					CNTLN_uc003zmy.2_Missense_Mutation_p.L991F|CNTLN_uc010mio.2_Missense_Mutation_p.L670F	p.L990F	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	18	2996	+			991			Potential.		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.2970G>T	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835087	0.50951	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.27720	1.65;1.65;1.92	4.76	1.89	0.25635	.	.	.	.	.	T	0.47619	0.1455	M	0.71581	2.175	0.34243	D	0.677901	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.69479	0.962;0.964;0.964	T	0.55717	-0.8097	9	0.44086	T	0.13	.	7.7798	0.29058	0.3449:0.0:0.6551:0.0	.	991;991;991	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	F	991	ENSP00000370021:L991F;ENSP00000392798:L991F;ENSP00000262360:L991F	ENSP00000262360:L991F	L	+	3	2	CNTLN	17406046	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	0.900000	0.28431	0.173000	0.19788	0.467000	0.42956	TTG		PASS	0.313	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		62	121	62	121	---	---	---	---
KLHL9	55958	broad.mit.edu	37	9	21333175	21333175	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr9:21333175C>G	ENST00000359039.4	-	1	2204	c.1684G>C	c.(1684-1686)Gaa>Caa	p.E562Q	KLHL9_ENST00000537938.1_Missense_Mutation_p.E494Q			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	562					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)		p.E562Q(1)		endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		TGGACAATTTCTACCATACAA	0.398																																						uc003zoy.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1684-1686)GAA>CAA		kelch-like 9							142.0	139.0	140.0					9																	21333175		2203	4300	6503	SO:0001583	missense	55958				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		g.chr9:21333175C>G	AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.1684G>C	9.37:g.21333175C>G	ENSP00000351933:p.Glu562Gln					KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA	p.E562Q	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN		Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)	1	2255	-			562			Kelch 6.		Q8TCQ2	Missense_Mutation	SNP	ENST00000359039.4	37	c.1684G>C	CCDS6503.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298732	0.23650	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	T;T	0.77877	-1.13;-1.13	4.97	4.97	0.65823	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.69079	0.3071	N	0.10837	0.055	0.58432	D	0.999994	P	0.51240	0.943	P	0.49192	0.602	T	0.74137	-0.3762	10	0.48119	T	0.1	.	16.1096	0.81250	0.0:1.0:0.0:0.0	.	562	Q9P2J3	KLHL9_HUMAN	Q	562;494	ENSP00000351933:E562Q;ENSP00000437733:E494Q	ENSP00000351933:E562Q	E	-	1	0	KLHL9	21323175	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.014000	0.70784	2.472000	0.83506	0.655000	0.94253	GAA		PASS	0.398	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847		66	182	66	182	---	---	---	---
SPATA31D1	389763	broad.mit.edu	37	9	84609748	84609748	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr9:84609748C>G	ENST00000344803.2	+	4	4410	c.4363C>G	c.(4363-4365)Cag>Gag	p.Q1455E		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1455					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.Q1455E(2)									AGAGCCTGTCCAGGGCTGTCC	0.532																																						uc004amn.2																			2	Substitution - Missense(2)		lung(2)		0						c.(4363-4365)CAG>GAG		hypothetical protein LOC389763							45.0	44.0	44.0					9																	84609748		1943	4133	6076	SO:0001583	missense	389763					integral to membrane		g.chr9:84609748C>G		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.4363C>G	9.37:g.84609748C>G	ENSP00000341988:p.Gln1455Glu						p.Q1455E	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	4410	+			1455						Missense_Mutation	SNP	ENST00000344803.2	37	c.4363C>G	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.119520	0.37436	.	.	ENSG00000214929	ENST00000344803	T	0.07567	3.18	2.91	1.99	0.26369	.	.	.	.	.	T	0.09202	0.0227	L	0.27053	0.805	0.09310	N	1	D	0.64830	0.994	P	0.52554	0.702	T	0.31971	-0.9924	9	0.26408	T	0.33	-4.7768	7.2515	0.26152	0.2633:0.7367:0.0:0.0	.	1455	Q6ZQQ2	F75D1_HUMAN	E	1455	ENSP00000341988:Q1455E	ENSP00000341988:Q1455E	Q	+	1	0	FAM75D1	83799568	0.000000	0.05858	0.006000	0.13384	0.023000	0.10783	0.579000	0.23788	0.764000	0.33197	0.655000	0.94253	CAG		PASS	0.532	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		28	38	28	38	---	---	---	---
ROR2	4920	broad.mit.edu	37	9	94493272	94493272	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr9:94493272G>T	ENST00000375708.3	-	7	1301	c.1103C>A	c.(1102-1104)cCc>cAc	p.P368H	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.P228H	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	368	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.P368H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTGGCCTCCGGGGTTCCGGCA	0.602																																						uc004arj.1																			1	Substitution - Missense(1)		lung(1)	lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						c.(1102-1104)CCC>CAC		receptor tyrosine kinase-like orphan receptor 2							62.0	60.0	61.0					9																	94493272		2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94493272G>T	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1103C>A	9.37:g.94493272G>T	ENSP00000364860:p.Pro368His					ROR2_uc004ari.1_Missense_Mutation_p.P228H|ROR2_uc004ark.2_Missense_Mutation_p.P368H	p.P368H	NM_004560	NP_004551	Q01974	ROR2_HUMAN			7	1302	-			368			Extracellular (Potential).|Kringle.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.1103C>A	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588794	0.86851	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	D;D	0.83419	-1.72;-1.72	3.95	3.95	0.45737	Kringle (5);Kringle-like fold (1);Kringle, conserved site (1);	0.000000	0.40302	U	0.001126	D	0.94663	0.8279	H	0.98314	4.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.979;0.998	D	0.97027	0.9747	10	0.87932	D	0	.	16.5487	0.84458	0.0:0.0:1.0:0.0	.	368;368;228	A1L4F5;Q01974;B1APY4	.;ROR2_HUMAN;.	H	228;368	ENSP00000364867:P228H;ENSP00000364860:P368H	ENSP00000364860:P368H	P	-	2	0	ROR2	93533093	1.000000	0.71417	0.977000	0.42913	0.990000	0.78478	9.469000	0.97679	2.199000	0.70637	0.561000	0.74099	CCC		PASS	0.602	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			34	40	34	40	---	---	---	---
NOL8	55035	broad.mit.edu	37	9	95077001	95077001	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr9:95077001C>A	ENST00000535387.1	-	6	1905	c.1906G>T	c.(1906-1908)Gcg>Tcg	p.A636S	NOL8_ENST00000542053.1_Missense_Mutation_p.A568S|NOL8_ENST00000545558.1_Missense_Mutation_p.A636S|NOL8_ENST00000442668.2_Missense_Mutation_p.A636S|NOL8_ENST00000358855.4_Missense_Mutation_p.A568S					nucleolar protein 8									p.A636S(1)|p.A638S(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GGGCCATTCGCCTTCTTTGCA	0.448																																						uc004arv.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1906-1908)GCG>TCG		nucleolar protein 8							70.0	62.0	64.0					9																	95077001		1925	4135	6060	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95077001C>A	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1906G>T	9.37:g.95077001C>A	ENSP00000441300:p.Ala636Ser					NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Missense_Mutation_p.A568S	p.A636S	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN			7	2243	-			636						Missense_Mutation	SNP	ENST00000535387.1	37	c.1906G>T	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	C	5.157	0.214612	0.09810	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.26	1.2	0.21068	.	0.847879	0.10709	N	0.643093	T	0.23611	0.0571	N	0.08118	0	0.09310	N	1	P	0.35077	0.483	B	0.30943	0.122	T	0.12243	-1.0555	10	0.54805	T	0.06	-0.2918	5.9992	0.19511	0.0:0.5161:0.1251:0.3588	.	636	Q76FK4	NOL8_HUMAN	S	636;638;568;636;636;568;636	ENSP00000401177:A636S;ENSP00000351723:A568S;ENSP00000441140:A636S;ENSP00000441300:A636S;ENSP00000440709:A568S;ENSP00000414112:A636S	ENSP00000351723:A568S	A	-	1	0	NOL8	94116822	0.000000	0.05858	0.189000	0.23252	0.167000	0.22549	-0.114000	0.10757	0.204000	0.20548	0.561000	0.74099	GCG		PASS	0.448	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		29	27	29	27	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107556765	107556765	+	Silent	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr9:107556765C>A	ENST00000374736.3	-	40	5803	c.5409G>T	c.(5407-5409)ctG>ctT	p.L1803L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1803					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.L1803L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	ACACGGACTTCAGGATATCAT	0.443																																						uc004bcl.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(5407-5409)CTG>CTT		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						72.0	67.0	68.0					9																	107556765		2203	4300	6503	SO:0001819	synonymous_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107556765C>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5409G>T	9.37:g.107556765C>A							p.L1803L	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	40	5722	-			1803			Helical; (Potential).		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	c.5409G>T	CCDS6762.1																																																																																				PASS	0.443	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		43	23	43	23	---	---	---	---
LAMC3	10319	broad.mit.edu	37	9	133901778	133901778	+	Nonsense_Mutation	SNP	C	C	A	rs140728983	byFrequency	TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr9:133901778C>A	ENST00000361069.4	+	2	613	c.480C>A	c.(478-480)taC>taA	p.Y160*	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	160	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.Y160*(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GGGAGCCCTACCAGTTCTACA	0.642																																						uc004caa.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(478-480)TAC>TAA		laminin, gamma 3 precursor							40.0	46.0	44.0					9																	133901778		2203	4300	6503	SO:0001587	stop_gained	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133901778C>A	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.480C>A	9.37:g.133901778C>A	ENSP00000354360:p.Tyr160*						p.Y160*	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	2	578	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	160			Laminin N-terminal.		B1APX9|B1APY0|Q59H72	Nonsense_Mutation	SNP	ENST00000361069.4	37	c.480C>A	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	C	38	7.029995	0.98013	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	.	.	.	5.93	5.04	0.67666	.	0.063072	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1904	0.65635	0.0:0.9291:0.0:0.0709	.	.	.	.	X	160	.	ENSP00000325873:Y160X	Y	+	3	2	LAMC3	132891599	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	4.932000	0.63476	1.537000	0.49254	-0.136000	0.14681	TAC		PASS	0.642	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		30	18	30	18	---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137642705	137642705	+	Missense_Mutation	SNP	C	C	A	rs201625736		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr9:137642705C>A	ENST00000371817.3	+	13	2053	c.1639C>A	c.(1639-1641)Caa>Aaa	p.Q547K		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	547	Interrupted collagenous region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.Q547K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GTCCCAGGCGCAAGCCATTCT	0.632																																						uc004cfe.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(1639-1641)CAA>AAA		alpha 1 type V collagen preproprotein							29.0	30.0	29.0					9																	137642705		2203	4299	6502	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137642705C>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1639C>A	9.37:g.137642705C>A	ENSP00000360882:p.Gln547Lys						p.Q547K	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	13	2021	+		Myeloproliferative disorder(178;0.0341)	547			Interrupted collagenous region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.1639C>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952950	0.73902	.	.	ENSG00000130635	ENST00000371817	D	0.89875	-2.58	4.67	4.67	0.58626	.	0.143982	0.47455	U	0.000235	D	0.94105	0.8110	M	0.83603	2.65	0.58432	D	0.999998	P	0.49447	0.924	P	0.62298	0.9	D	0.94224	0.7470	10	0.48119	T	0.1	.	16.7019	0.85351	0.0:1.0:0.0:0.0	.	547	P20908	CO5A1_HUMAN	K	547	ENSP00000360882:Q547K	ENSP00000360882:Q547K	Q	+	1	0	COL5A1	136782526	1.000000	0.71417	0.941000	0.38009	0.972000	0.66771	6.764000	0.74960	2.293000	0.77203	0.655000	0.94253	CAA		PASS	0.632	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		4	17	4	17	---	---	---	---
TRAF2	7186	broad.mit.edu	37	9	139802569	139802569	+	Silent	SNP	G	G	T	rs533013634		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr9:139802569G>T	ENST00000247668.2	+	5	466	c.414G>T	c.(412-414)gcG>gcT	p.A138A	TRAF2_ENST00000536468.1_Silent_p.A138A|TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000359662.3_Silent_p.A190A	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	138					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|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.A138A(1)		breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		AATGTCCCGCGTGCAAAGGCC	0.642																																						uc010nbu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|breast(1)|skin(1)	4						c.(412-414)GCG>GCT		TNF receptor-associated factor 2							60.0	60.0	60.0					9																	139802569		2203	4300	6503	SO:0001819	synonymous_variant	7186				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:139802569G>T	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"""RING-type (C3HC4) zinc fingers"""	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.414G>T	9.37:g.139802569G>T						TRAF2_uc010nbv.1_Silent_p.A190A|TRAF2_uc004cjv.2_Silent_p.A138A|TRAF2_uc011mek.1_Silent_p.A127A|TRAF2_uc010nbw.2_Silent_p.A138A	p.A138A	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	6	587	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	138			TRAF-type 1.		A8K107|B4DPJ7|Q7Z337|Q96NT2	Silent	SNP	ENST00000247668.2	37	c.414G>T	CCDS7013.1																																																																																				PASS	0.642	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	NM_021138		29	45	29	45	---	---	---	---
GDI2	2665	broad.mit.edu	37	10	5836977	5836977	+	Silent	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr10:5836977G>A	ENST00000380191.4	-	4	549	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L	GDI2_ENST00000380132.4_Silent_p.L91L|GDI2_ENST00000380181.3_Intron	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	87					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)	p.L87L(1)		NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						ATCTTAACCAGCTGACCTAGA	0.323																																						uc001iil.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(259-261)CTG>TTG		GDP dissociation inhibitor 2 isoform 1							57.0	57.0	57.0					10																	5836977		2203	4300	6503	SO:0001819	synonymous_variant	2665				protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity	g.chr10:5836977G>A	D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"""rab GDP-dissociation"""	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.259C>T	10.37:g.5836977G>A						GDI2_uc001iim.3_Intron|GDI2_uc009xid.2_Silent_p.L91L	p.L87L	NM_001494	NP_001485	P50395	GDIB_HUMAN			4	550	-			87					O43928|Q5SX88|Q9UQM6	Silent	SNP	ENST00000380191.4	37	c.259C>T	CCDS7071.1																																																																																				PASS	0.323	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	NM_001494		61	119	61	119	---	---	---	---
SFMBT2	57713	broad.mit.edu	37	10	7214075	7214075	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr10:7214075T>C	ENST00000361972.4	-	19	2287	c.2197A>G	c.(2197-2199)Agt>Ggt	p.S733G	SFMBT2_ENST00000397167.1_Missense_Mutation_p.S733G	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	733					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.S733G(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GTCTCCTCACTGGCGGTGTCA	0.687																																						uc009xio.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(2197-2199)AGT>GGT		Scm-like with four mbt domains 2							29.0	34.0	32.0					10																	7214075		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7214075T>C	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2197A>G	10.37:g.7214075T>C	ENSP00000355109:p.Ser733Gly					SFMBT2_uc001ijn.1_Missense_Mutation_p.S733G|SFMBT2_uc010qay.1_Missense_Mutation_p.S568G	p.S733G	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			19	2288	-			733					A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.2197A>G	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.568668	0.45798	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.17854	2.25;2.25	5.25	5.25	0.73442	.	0.079671	0.85682	D	0.000000	T	0.25680	0.0625	M	0.74258	2.255	0.80722	D	1	P	0.50443	0.935	B	0.43194	0.411	T	0.07214	-1.0784	10	0.49607	T	0.09	.	15.1531	0.72717	0.0:0.0:0.0:1.0	.	733	Q5VUG0	SMBT2_HUMAN	G	733	ENSP00000355109:S733G;ENSP00000380353:S733G	ENSP00000355109:S733G	S	-	1	0	SFMBT2	7254081	1.000000	0.71417	0.452000	0.26994	0.526000	0.34562	7.043000	0.76572	1.978000	0.57642	0.459000	0.35465	AGT		PASS	0.687	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		7	17	7	17	---	---	---	---
NEBL	10529	broad.mit.edu	37	10	21097437	21097437	+	Splice_Site	SNP	A	A	G	rs139887121		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr10:21097437A>G	ENST00000377122.4	-	26	3158		c.e26+1		NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette						cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.?(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AATGTTTGATACCTCCTTCAT	0.398																																						uc001iqi.2																			1	Unknown(1)		lung(1)	ovary(2)	2						c.e26+1		nebulette sarcomeric isoform							93.0	87.0	89.0					10																	21097437		2203	4300	6503	SO:0001630	splice_region_variant	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21097437A>G	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2761+1T>C	10.37:g.21097437A>G						NEBL_uc001iqj.2_Splice_Site|NEBL_uc001iqk.2_Intron	p.A921_splice	NM_006393	NP_006384	O76041	NEBL_HUMAN			26	3158	-								B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Splice_Site	SNP	ENST00000377122.4	37	c.2761_splice	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.912233	0.72983	.	.	ENSG00000078114	ENST00000377122	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8016	0.78456	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NEBL	21137443	1.000000	0.71417	0.943000	0.38184	0.833000	0.47200	6.125000	0.71627	2.220000	0.72140	0.451000	0.29950	.		PASS	0.398	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393	Intron	42	125	42	125	---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24813352	24813352	+	Missense_Mutation	SNP	G	G	A	rs569802646		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr10:24813352G>A	ENST00000376454.3	+	13	2587	c.2557G>A	c.(2557-2559)Gag>Aag	p.E853K	KIAA1217_ENST00000376462.1_Missense_Mutation_p.E773K|KIAA1217_ENST00000396445.1_Missense_Mutation_p.E536K|KIAA1217_ENST00000307544.6_Missense_Mutation_p.E536K|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000396446.1_Missense_Mutation_p.E536K|KIAA1217_ENST00000376452.3_Missense_Mutation_p.E818K|KIAA1217_ENST00000376451.2_Missense_Mutation_p.E536K|KIAA1217_ENST00000458595.1_Missense_Mutation_p.E818K	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	853					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.E853K(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GAAGAGTCAGGAGGAGGCAGC	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		19372	0.0		0.0	False		,,,				2504	0.001					uc001iru.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)	7						c.(2557-2559)GAG>AAG		sickle tail isoform 1							61.0	61.0	61.0					10																	24813352		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24813352G>A	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.2557G>A	10.37:g.24813352G>A	ENSP00000365637:p.Glu853Lys					KIAA1217_uc001irs.2_Missense_Mutation_p.E773K|KIAA1217_uc001irt.3_Missense_Mutation_p.E818K|KIAA1217_uc010qcy.1_Missense_Mutation_p.E818K|KIAA1217_uc010qcz.1_Missense_Mutation_p.E818K|KIAA1217_uc001irv.1_Missense_Mutation_p.E668K|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.2_Missense_Mutation_p.E536K|KIAA1217_uc001irz.2_Missense_Mutation_p.E536K|KIAA1217_uc001irx.2_Missense_Mutation_p.E536K|KIAA1217_uc001iry.2_Missense_Mutation_p.E536K	p.E853K	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN			13	2960	+			853					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.2557G>A	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588884	0.66105	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36	5.47	5.47	0.80525	.	0.200098	0.42964	D	0.000635	T	0.71492	0.3346	M	0.64997	1.995	0.44862	D	0.997873	D;D;D;D;D;D;D;P	0.89917	0.999;0.984;0.999;0.983;1.0;0.999;0.999;0.903	D;P;D;P;D;D;D;B	0.91635	0.996;0.655;0.996;0.813;0.999;0.996;0.994;0.31	T	0.70880	-0.4752	10	0.48119	T	0.1	.	19.3114	0.94188	0.0:0.0:1.0:0.0	.	818;818;536;536;536;536;853;853	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	K	773;818;818;536;853;818;668;536;536;536;536;536	ENSP00000365645:E773K;ENSP00000365639:E818K;ENSP00000392625:E818K;ENSP00000365637:E853K;ENSP00000365635:E818K;ENSP00000404798:E668K;ENSP00000302343:E536K;ENSP00000379722:E536K;ENSP00000365634:E536K;ENSP00000379723:E536K	ENSP00000302343:E536K	E	+	1	0	KIAA1217	24853358	1.000000	0.71417	0.794000	0.32065	0.353000	0.29299	4.468000	0.60162	2.556000	0.86216	0.561000	0.74099	GAG		PASS	0.612	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		30	57	30	57	---	---	---	---
MKX	283078	broad.mit.edu	37	10	28032255	28032255	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr10:28032255G>C	ENST00000375790.5	-	2	522	c.90C>G	c.(88-90)taC>taG	p.Y30*	RP11-360I20.2_ENST00000419777.1_RNA|MKX_ENST00000419761.1_Nonsense_Mutation_p.Y30*			Q8IYA7	MKX_HUMAN	mohawk homeobox	30					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.Y30*(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GGACACCGCTGTAGGGCCGGC	0.682																																						uc001ity.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(88-90)TAC>TAG		mohawk homeobox							21.0	24.0	23.0					10																	28032255		2198	4293	6491	SO:0001587	stop_gained	283078				muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:28032255G>C	BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"""Homeoboxes / TALE class"""	23729	protein-coding gene	gene with protein product		601332	"""chromosome 10 open reading frame 48"", ""iroquois homeobox protein-like 1"""	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.90C>G	10.37:g.28032255G>C	ENSP00000364946:p.Tyr30*					MKX_uc001itx.3_Nonsense_Mutation_p.Y30*	p.Y30*	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN			2	315	-			30					B3KWM5	Nonsense_Mutation	SNP	ENST00000375790.5	37	c.90C>G	CCDS7156.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300038	0.81136	.	.	ENSG00000150051	ENST00000375790;ENST00000419761	.	.	.	5.56	-0.183	0.13284	.	0.207947	0.42821	D	0.000655	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2304	10.4073	0.44272	0.4642:0.0:0.5358:0.0	.	.	.	.	X	30	.	ENSP00000364946:Y30X	Y	-	3	2	MKX	28072261	0.524000	0.26282	0.000000	0.03702	0.036000	0.12997	0.878000	0.28126	-0.355000	0.08199	-0.258000	0.10820	TAC		PASS	0.682	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	NM_173576		3	12	3	12	---	---	---	---
RBP3	5949	broad.mit.edu	37	10	48388774	48388774	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr10:48388774A>C	ENST00000224600.4	-	1	2217	c.2104T>G	c.(2104-2106)Ttc>Gtc	p.F702V	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	702	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.F702V(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)	GGGCTGTGGAACACTAGCAAG	0.632																																						uc001jez.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(2104-2106)TTC>GTC		retinol-binding protein 3 precursor	Vitamin A(DB00162)						35.0	39.0	38.0					10																	48388774		2201	4297	6498	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48388774A>C	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.2104T>G	10.37:g.48388774A>C	ENSP00000224600:p.Phe702Val						p.F702V	NM_002900	NP_002891	P10745	RET3_HUMAN			1	2218	-			702			4 X approximate tandem repeats.|3.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.2104T>G	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	A	15.73	2.920957	0.52653	.	.	ENSG00000107618	ENST00000224600	T	0.62105	0.05	5.53	5.53	0.82687	.	0.122077	0.53938	D	0.000042	T	0.60353	0.2262	M	0.64404	1.975	0.80722	D	1	P	0.42456	0.78	B	0.38106	0.265	T	0.66232	-0.5975	10	0.59425	D	0.04	-33.9829	14.8507	0.70295	1.0:0.0:0.0:0.0	.	702	P10745	RET3_HUMAN	V	702	ENSP00000224600:F702V	ENSP00000224600:F702V	F	-	1	0	RBP3	48008780	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.228000	0.65310	2.124000	0.65301	0.459000	0.35465	TTC		PASS	0.632	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		60	75	60	75	---	---	---	---
RBP3	5949	broad.mit.edu	37	10	48388777	48388777	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr10:48388777C>T	ENST00000224600.4	-	1	2214	c.2101G>A	c.(2101-2103)Gtg>Atg	p.V701M	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	701	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.V701M(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)	CTGTGGAACACTAGCAAGCGG	0.637																																						uc001jez.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(2101-2103)GTG>ATG		retinol-binding protein 3 precursor	Vitamin A(DB00162)						35.0	39.0	38.0					10																	48388777		2201	4296	6497	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48388777C>T	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.2101G>A	10.37:g.48388777C>T	ENSP00000224600:p.Val701Met						p.V701M	NM_002900	NP_002891	P10745	RET3_HUMAN			1	2215	-			701			4 X approximate tandem repeats.|3.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.2101G>A	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.328583	0.41197	.	.	ENSG00000107618	ENST00000224600	T	0.72394	-0.65	5.53	4.63	0.57726	.	0.152356	0.41938	N	0.000797	T	0.74061	0.3667	M	0.85859	2.78	0.43214	D	0.995088	B	0.23058	0.079	B	0.23716	0.048	T	0.74768	-0.3553	10	0.87932	D	0	-20.7862	13.3243	0.60450	0.0:0.9241:0.0:0.0759	.	701	P10745	RET3_HUMAN	M	701	ENSP00000224600:V701M	ENSP00000224600:V701M	V	-	1	0	RBP3	48008783	0.989000	0.36119	0.943000	0.38184	0.978000	0.69477	2.587000	0.46128	1.349000	0.45751	0.561000	0.74099	GTG		PASS	0.637	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		58	81	58	81	---	---	---	---
BICC1	80114	broad.mit.edu	37	10	60549108	60549108	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr10:60549108G>T	ENST00000373886.3	+	7	691	c.687G>T	c.(685-687)caG>caT	p.Q229H		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	229					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.Q229H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CCTCTATTCAGCATATATCAC	0.408																																						uc001jki.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(685-687)CAG>CAT		bicaudal C homolog 1							146.0	138.0	141.0					10																	60549108		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60549108G>T	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.687G>T	10.37:g.60549108G>T	ENSP00000362993:p.Gln229His						p.Q229H	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN			7	687	+			229						Missense_Mutation	SNP	ENST00000373886.3	37	c.687G>T	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035663	0.75617	.	.	ENSG00000122870	ENST00000373886	T	0.33438	1.41	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.49201	0.1543	M	0.69823	2.125	0.80722	D	1	D	0.67145	0.996	P	0.59703	0.862	T	0.46596	-0.9180	10	0.51188	T	0.08	-9.024	12.5923	0.56449	0.1182:0.0:0.8818:0.0	.	229	Q9H694	BICC1_HUMAN	H	229	ENSP00000362993:Q229H	ENSP00000362993:Q229H	Q	+	3	2	BICC1	60219114	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.596000	0.61055	2.665000	0.90641	0.655000	0.94253	CAG		PASS	0.408	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		107	183	107	183	---	---	---	---
EGR2	1959	broad.mit.edu	37	10	64574132	64574132	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr10:64574132G>A	ENST00000242480.3	-	2	591	c.266C>T	c.(265-267)aCc>aTc	p.T89I	EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000439032.1_Missense_Mutation_p.T89I|EGR2_ENST00000411732.1_Missense_Mutation_p.T39I	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	89					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.T89I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GTAAGTGAAGGTCTGGTTTCT	0.502																																						uc010qim.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(265-267)ACC>ATC		early growth response 2 protein isoform a							159.0	146.0	150.0					10																	64574132		2203	4300	6503	SO:0001583	missense	1959				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr10:64574132G>A	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.266C>T	10.37:g.64574132G>A	ENSP00000242480:p.Thr89Ile					EGR2_uc010qin.1_Missense_Mutation_p.T39I|EGR2_uc001jmi.2_Missense_Mutation_p.T89I|EGR2_uc010qio.1_Missense_Mutation_p.T102I|EGR2_uc009xph.2_Missense_Mutation_p.T89I	p.T89I	NM_001136177	NP_001129649	P11161	EGR2_HUMAN			3	420	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		89					B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Missense_Mutation	SNP	ENST00000242480.3	37	c.266C>T	CCDS7267.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872929	0.72180	.	.	ENSG00000122877	ENST00000242480;ENST00000439032;ENST00000411732;ENST00000432380	T;T;T	0.17054	2.3;2.3;2.41	5.02	5.02	0.67125	.	0.052061	0.85682	D	0.000000	T	0.28200	0.0696	L	0.46157	1.445	0.41894	D	0.990387	D;P	0.60160	0.987;0.937	P;B	0.52217	0.693;0.4	T	0.01512	-1.1336	10	0.62326	D	0.03	-29.3301	18.1347	0.89614	0.0:0.0:1.0:0.0	.	39;89	P11161-2;P11161	.;EGR2_HUMAN	I	89;89;39;102	ENSP00000242480:T89I;ENSP00000402040:T89I;ENSP00000387634:T39I	ENSP00000242480:T89I	T	-	2	0	EGR2	64244138	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.342000	0.72982	2.592000	0.87571	0.563000	0.77884	ACC		PASS	0.502	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		7	113	7	113	---	---	---	---
JMJD1C	221037	broad.mit.edu	37	10	64975339	64975339	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr10:64975339C>T	ENST00000399262.2	-	6	1014	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	JMJD1C_ENST00000402544.1_Missense_Mutation_p.A47T|JMJD1C_ENST00000399251.1_Missense_Mutation_p.A47T|JMJD1C_ENST00000489372.2_5'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.A84T	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	266					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)	p.A47T(1)|p.A266T(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTTTGATTGGCACGAGACCTG	0.368																																						uc001jmn.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(1)|central_nervous_system(1)	6						c.(796-798)GCC>ACC		jumonji domain containing 1C isoform a							103.0	93.0	96.0					10																	64975339		1895	4125	6020	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64975339C>T	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.796G>A	10.37:g.64975339C>T	ENSP00000382204:p.Ala266Thr					JMJD1C_uc001jml.2_Missense_Mutation_p.A47T|JMJD1C_uc001jmm.2_5'UTR|JMJD1C_uc010qiq.1_Missense_Mutation_p.A84T|JMJD1C_uc009xpi.2_Missense_Mutation_p.A84T|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmp.1_5'UTR	p.A266T	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			6	1096	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		266					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.796G>A	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492869	0.84962	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.28	4.3	0.51218	.	0.072944	0.56097	U	0.000031	T	0.08714	0.0216	N	0.22421	0.69	0.40543	D	0.981041	B;B	0.31581	0.329;0.307	B;B	0.33339	0.162;0.079	T	0.21895	-1.0232	10	0.10902	T	0.67	-5.8176	10.6878	0.45854	0.4323:0.5677:0.0:0.0	.	266;84	Q15652;A0T124	JHD2C_HUMAN;.	T	266;47;47;84	ENSP00000382204:A266T;ENSP00000384990:A47T;ENSP00000382195:A47T;ENSP00000444682:A84T	ENSP00000382195:A47T	A	-	1	0	JMJD1C	64645345	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.702000	0.54800	2.473000	0.83533	0.655000	0.94253	GCC		PASS	0.368	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		81	133	81	133	---	---	---	---
TET1	80312	broad.mit.edu	37	10	70333646	70333646	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr10:70333646A>C	ENST00000373644.4	+	2	1760	c.1551A>C	c.(1549-1551)ttA>ttC	p.L517F		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	517					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.L517F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GGTTCCCATTAGCCCCTGAGA	0.473																																						uc001jok.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(1549-1551)TTA>TTC		CXXC finger 6							56.0	53.0	54.0					10																	70333646		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70333646A>C	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.1551A>C	10.37:g.70333646A>C	ENSP00000362748:p.Leu517Phe						p.L517F	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			2	2056	+			517					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.1551A>C	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	A	9.921	1.212243	0.22289	.	.	ENSG00000138336	ENST00000373644	T	0.09630	2.96	5.31	0.184	0.15086	.	3.114440	0.01367	N	0.012424	T	0.07863	0.0197	N	0.24115	0.695	0.09310	N	1	B	0.14438	0.01	B	0.12837	0.008	T	0.34825	-0.9813	10	0.52906	T	0.07	.	1.2969	0.02071	0.2839:0.1856:0.0914:0.4391	.	517	Q8NFU7	TET1_HUMAN	F	517	ENSP00000362748:L517F	ENSP00000362748:L517F	L	+	3	2	TET1	70003652	0.000000	0.05858	0.000000	0.03702	0.302000	0.27658	0.044000	0.13992	0.008000	0.14787	0.254000	0.18369	TTA		PASS	0.473	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		26	86	26	86	---	---	---	---
TET1	80312	broad.mit.edu	37	10	70451518	70451518	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr10:70451518G>T	ENST00000373644.4	+	12	6567	c.6358G>T	c.(6358-6360)Gtg>Ttg	p.V2120L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2120					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.V2120M(2)|p.V2120L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TGTTGTCACCGTGTCCCCTTA	0.443																																						uc001jok.3																			3	Substitution - Missense(3)		lung(2)|haematopoietic_and_lymphoid_tissue(1)	ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(6358-6360)GTG>TTG		CXXC finger 6							131.0	133.0	132.0					10																	70451518		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70451518G>T	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.6358G>T	10.37:g.70451518G>T	ENSP00000362748:p.Val2120Leu						p.V2120L	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			12	6863	+			2120					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.6358G>T	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655468	0.67586	.	.	ENSG00000138336	ENST00000373644	T	0.09255	3.0	5.59	5.59	0.84812	.	0.637289	0.16316	N	0.219772	T	0.22244	0.0536	L	0.53249	1.67	0.30709	N	0.749425	P	0.52692	0.955	P	0.54270	0.747	T	0.02639	-1.1130	10	0.72032	D	0.01	.	12.882	0.58022	0.0744:0.0:0.9255:0.0	.	2120	Q8NFU7	TET1_HUMAN	L	2120	ENSP00000362748:V2120L	ENSP00000362748:V2120L	V	+	1	0	TET1	70121524	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.163000	0.71880	2.635000	0.89317	0.563000	0.77884	GTG		PASS	0.443	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		101	210	101	210	---	---	---	---
CCAR1	55749	broad.mit.edu	37	10	70509373	70509373	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr10:70509373G>T	ENST00000265872.6	+	10	1168	c.1049G>T	c.(1048-1050)cGa>cTa	p.R350L	CCAR1_ENST00000543719.1_Missense_Mutation_p.R335L|CCAR1_ENST00000535016.1_Missense_Mutation_p.R335L	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	350	Arg-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)	p.R350L(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GAGCGAGAGCGATCACCTCGG	0.463																																						uc001joo.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)	7						c.(1048-1050)CGA>CTA		cell-cycle and apoptosis regulatory protein 1							186.0	182.0	183.0					10																	70509373		2203	4300	6503	SO:0001583	missense	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70509373G>T	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.1049G>T	10.37:g.70509373G>T	ENSP00000265872:p.Arg350Leu					CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Missense_Mutation_p.R155L|CCAR1_uc009xpx.1_Missense_Mutation_p.R324L|CCAR1_uc001jon.1_Missense_Mutation_p.R296L|CCAR1_uc010qiz.1_Missense_Mutation_p.R335L|CCAR1_uc010qja.1_Missense_Mutation_p.R335L|CCAR1_uc010qjb.1_RNA	p.R350L	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN			10	1168	+			350			Arg-rich.		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	c.1049G>T	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	G	9.716	1.158438	0.21454	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	T;T;T;T;T;T	0.29655	1.56;2.38;2.38;2.38;2.38;1.81	5.41	4.51	0.55191	.	0.000000	0.64402	D	0.000002	T	0.42585	0.1209	L	0.29908	0.895	0.39069	D	0.960673	D;B;B	0.63046	0.992;0.114;0.182	D;B;B	0.72982	0.979;0.056;0.12	T	0.41395	-0.9511	10	0.46703	T	0.11	-10.544	14.4345	0.67272	0.0711:0.0:0.9289:0.0	.	335;350;324	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	L	350;335;335;335;324;155	ENSP00000265872:R350L;ENSP00000441820:R335L;ENSP00000445254:R335L;ENSP00000439252:R335L;ENSP00000438610:R324L;ENSP00000439642:R155L	ENSP00000265872:R350L	R	+	2	0	CCAR1	70179379	1.000000	0.71417	0.121000	0.21740	0.061000	0.15899	9.049000	0.93837	1.428000	0.47296	-0.373000	0.07131	CGA		PASS	0.463	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		64	145	64	145	---	---	---	---
PALD1	27143	broad.mit.edu	37	10	72291069	72291070	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr10:72291069_72291070GG>TT	ENST00000263563.6	+	5	760_761	c.492_493GG>TT	c.(490-495)cgGGag>cgTTag	p.E165*		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	165						cytosol (GO:0005829)		p.E165*(2)|p.R164R(1)									TCTGTGTGCGGGAGGAACCTGT	0.589																																						uc001jrd.3																			3	Substitution - Nonsense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)|central_nervous_system(1)	3						c.(490-492)CGG>CGT|c.(493-495)GAG>TAG		KIAA1274																																				SO:0001587	stop_gained	27143							g.chr10:72291069G>T|g.chr10:72291070G>T	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	Exception_encountered	10.37:g.72291069_72291070delinsTT	ENSP00000263563:p.Glu165*						p.R164R|p.E165*	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN			5	773|774	+			164|165					B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Silent|Nonsense_Mutation	SNP	ENST00000263563.6	37	c.492G>T|c.493G>T	CCDS31215.1																																																																																				PASS	0.589	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		17	121|122	17	121	---	---	---	---
NDST2	8509	broad.mit.edu	37	10	75562271	75562271	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr10:75562271G>A	ENST00000309979.6	-	15	3146	c.2590C>T	c.(2590-2592)Cgg>Tgg	p.R864W	RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8-AS1_ENST00000456638.2_RNA|NDST2_ENST00000299641.4_Missense_Mutation_p.R741W			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	864	Heparan sulfate N-sulfotransferase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)	p.R864W(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					TGTCCAAGCCGGCTCAGCAGC	0.522																																						uc001jvk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2590-2592)CGG>TGG		heparan glucosaminyl							31.0	33.0	32.0					10																	75562271		2203	4300	6503	SO:0001583	missense	8509					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr10:75562271G>A	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.2590C>T	10.37:g.75562271G>A	ENSP00000310657:p.Arg864Trp					NDST2_uc010qks.1_Missense_Mutation_p.R490W|NDST2_uc010qkt.1_Missense_Mutation_p.R741W|NDST2_uc001jvl.1_3'UTR	p.R864W	NM_003635	NP_003626	P52849	NDST2_HUMAN			15	3394	-	Prostate(51;0.0112)		864			Lumenal (Potential).|Heparan sulfate N-sulfotransferase 2.		Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	c.2590C>T	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.542915	0.65198	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	T;T	0.57752	0.38;0.38	6.17	5.26	0.73747	.	0.112845	0.64402	D	0.000009	T	0.74816	0.3766	M	0.89478	3.035	0.58432	D	0.999996	D	0.89917	1.0	D	0.70935	0.971	T	0.79862	-0.1624	10	0.87932	D	0	.	11.9974	0.53212	0.0:0.1114:0.721:0.1676	.	864	P52849	NDST2_HUMAN	W	864;741	ENSP00000310657:R864W;ENSP00000299641:R741W	ENSP00000299641:R741W	R	-	1	2	NDST2	75232277	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.115000	0.57865	1.603000	0.50134	0.655000	0.94253	CGG		PASS	0.522	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		3	28	3	28	---	---	---	---
KAT6B	23522	broad.mit.edu	37	10	76737088	76737088	+	Missense_Mutation	SNP	A	A	G	rs145378526		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr10:76737088A>G	ENST00000287239.4	+	9	2497	c.2008A>G	c.(2008-2010)Ata>Gta	p.I670V	KAT6B_ENST00000372724.1_Missense_Mutation_p.I378V|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372714.1_Missense_Mutation_p.I378V|KAT6B_ENST00000372711.1_Missense_Mutation_p.I487V|KAT6B_ENST00000372725.1_Missense_Mutation_p.I378V	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	670	Negatively regulates HAT activity.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.I670V(1)									TGAAATAAAAATAAACATCAA	0.353																																						uc001jwn.1										T					CREBBP		AML		1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16						c.(2008-2010)ATA>GTA		MYST histone acetyltransferase (monocytic		A	VAL/ILE	0,4406		0,0,2203	124.0	117.0	119.0		2008	5.7	1.0	10	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	missense	KAT6B	NM_012330.2	29	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	670/2074	76737088	1,13005	2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76737088A>G	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.2008A>G	10.37:g.76737088A>G	ENSP00000287239:p.Ile670Val					MYST4_uc001jwm.1_Missense_Mutation_p.I378V|MYST4_uc001jwo.1_Missense_Mutation_p.I378V|MYST4_uc001jwp.1_Missense_Mutation_p.I487V	p.I670V	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN			9	2501	+	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)		670			Negatively regulates HAT activity.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.2008A>G	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	A	10.89	1.479745	0.26511	0.0	1.16E-4	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.76316	-1.01;-1.01;-0.99;-1.01;-1.01	5.67	5.67	0.87782	.	0.000000	0.51477	D	0.000084	T	0.67590	0.2909	N	0.17082	0.46	0.35235	D	0.777254	B;P;B	0.49090	0.314;0.919;0.083	B;P;B	0.49085	0.121;0.6;0.016	T	0.70174	-0.4944	10	0.14656	T	0.56	-13.0046	11.3881	0.49798	0.8377:0.1623:0.0:0.0	.	487;378;670	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	V	378;378;670;378;487	ENSP00000361810:I378V;ENSP00000361809:I378V;ENSP00000287239:I670V;ENSP00000361799:I378V;ENSP00000361796:I487V	ENSP00000287239:I670V	I	+	1	0	KAT6B	76407094	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.039000	0.41193	2.158000	0.67659	0.477000	0.44152	ATA		PASS	0.353	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		3	113	3	113	---	---	---	---
LIPF	8513	broad.mit.edu	37	10	90438284	90438284	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr10:90438284C>A	ENST00000238983.4	+	10	1089	c.1043C>A	c.(1042-1044)cCc>cAc	p.P348H	LIPF_ENST00000608620.1_Missense_Mutation_p.P315H|LIPF_ENST00000394375.3_Missense_Mutation_p.P358H|LIPF_ENST00000355843.2_Missense_Mutation_p.P325H	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	348			P -> T (in dbSNP:rs17333991). {ECO:0000269|Ref.4}.		lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)	p.P348H(1)|p.P358H(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	TTGGCTGACCCCCAAGATGTT	0.458																																						uc001kfg.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1042-1044)CCC>CAC		lipase, gastric precursor							181.0	169.0	173.0					10																	90438284		2203	4300	6503	SO:0001583	missense	8513				lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity	g.chr10:90438284C>A	X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.1043C>A	10.37:g.90438284C>A	ENSP00000238983:p.Pro348His					LIPF_uc001kfh.1_Missense_Mutation_p.P325H|LIPF_uc010qmt.1_Missense_Mutation_p.P358H|LIPF_uc010qmu.1_Missense_Mutation_p.P315H	p.P348H	NM_004190	NP_004181	P07098	LIPG_HUMAN		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	10	1209	+		Colorectal(252;0.0161)	348					B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Missense_Mutation	SNP	ENST00000238983.4	37	c.1043C>A	CCDS7389.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018589	0.35606	.	.	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	T;T;T	0.64085	-0.08;-0.08;-0.08	4.97	3.11	0.35812	Alpha/beta hydrolase fold-1 (1);	0.000000	0.51477	D	0.000088	T	0.80497	0.4634	M	0.93507	3.425	0.38610	D	0.950871	D;D;D;D	0.89917	0.998;1.0;0.999;1.0	D;D;D;D	0.79108	0.992;0.984;0.979;0.991	T	0.80959	-0.1149	10	0.52906	T	0.07	-16.5446	6.7358	0.23409	0.0:0.6957:0.1453:0.159	.	315;358;325;348	Q5VXI8;F5H1P4;Q658L8;P07098	.;.;.;LIPG_HUMAN	H	358;348;315	ENSP00000377900:P358H;ENSP00000238983:P348H;ENSP00000348101:P315H	ENSP00000238983:P348H	P	+	2	0	LIPF	90428264	0.910000	0.30920	0.434000	0.26772	0.079000	0.17450	3.345000	0.52182	0.821000	0.34540	0.650000	0.86243	CCC		PASS	0.458	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049256.1			97	122	97	122	---	---	---	---
IFIT1B	439996	broad.mit.edu	37	10	91143383	91143383	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr10:91143383T>A	ENST00000371809.3	+	2	393	c.313T>A	c.(313-315)Tat>Aat	p.Y105N	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	105								p.Y105N(1)		endometrium(2)|large_intestine(3)|lung(8)	13						TGCCTGGGTGTATTACCACAT	0.473																																						uc001kgh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(313-315)TAT>AAT		interferon-induced protein with							59.0	60.0	60.0					10																	91143383		2203	4300	6503	SO:0001583	missense	439996						binding	g.chr10:91143383T>A		CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"""Tetratricopeptide (TTC) repeat domain containing"""	23442	protein-coding gene	gene with protein product			"""interferon-induced protein with tetratricopeptide repeats 1-like"""	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	ENST00000371809.3:c.313T>A	10.37:g.91143383T>A	ENSP00000360874:p.Tyr105Asn					LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron	p.Y105N	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN			2	393	+			105			TPR 2.		A7E245	Missense_Mutation	SNP	ENST00000371809.3	37	c.313T>A	CCDS31242.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.423007	0.62733	.	.	ENSG00000204010	ENST00000371809	D	0.95690	-3.78	4.61	1.05	0.20165	Tetratricopeptide-like helical (1);	0.261539	0.38778	U	0.001567	D	0.96052	0.8714	M	0.65677	2.01	0.35723	D	0.817342	D	0.67145	0.996	D	0.71184	0.972	D	0.94895	0.8051	10	0.52906	T	0.07	.	7.2702	0.26252	0.0:0.2787:0.0:0.7213	.	105	Q5T764	IFT1B_HUMAN	N	105	ENSP00000360874:Y105N	ENSP00000360874:Y105N	Y	+	1	0	IFIT1B	91133363	0.999000	0.42202	0.998000	0.56505	0.918000	0.54935	0.999000	0.29757	0.176000	0.19873	0.455000	0.32223	TAT		PASS	0.473	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049296.3	NM_001010987		65	65	65	65	---	---	---	---
TLL2	7093	broad.mit.edu	37	10	98146803	98146803	+	Missense_Mutation	SNP	C	C	A	rs200588066		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr10:98146803C>A	ENST00000357947.3	-	14	1984	c.1759G>T	c.(1759-1761)Ggg>Tgg	p.G587W		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	587	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.			EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871). {ECO:0000305}.	cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G587W(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TGCTCGCACCCGCCGTGATCT	0.592																																						uc001kml.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1759-1761)GGG>TGG		tolloid-like 2 precursor							95.0	79.0	85.0					10																	98146803		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98146803C>A	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1759G>T	10.37:g.98146803C>A	ENSP00000350630:p.Gly587Trp						p.G587W	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	14	1985	-		Colorectal(252;0.0846)	587	EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871).		EGF-like 1; calcium-binding (Potential).		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.1759G>T	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553596	0.65425	.	.	ENSG00000095587	ENST00000357947	D	0.98264	-4.83	4.43	4.43	0.53597	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.46442	D	0.000287	D	0.98934	0.9638	M	0.85630	2.765	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.99308	1.0903	10	0.59425	D	0.04	.	16.5736	0.84631	0.0:1.0:0.0:0.0	.	587	Q9Y6L7	TLL2_HUMAN	W	587	ENSP00000350630:G587W	ENSP00000350630:G587W	G	-	1	0	TLL2	98136793	0.988000	0.35896	0.895000	0.35142	0.531000	0.34715	3.002000	0.49496	2.458000	0.83093	0.491000	0.48974	GGG		PASS	0.592	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			43	35	43	35	---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	106907423	106907423	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr10:106907423C>A	ENST00000369701.3	+	9	1578	c.1351C>A	c.(1351-1353)Caa>Aaa	p.Q451K		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	451					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.Q451K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGCTGCGGTCCAAGAATGGAA	0.488																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(1351-1353)CAA>AAA		VPS10 domain receptor protein SORCS 3 precursor							239.0	191.0	207.0					10																	106907423		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106907423C>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1351C>A	10.37:g.106907423C>A	ENSP00000358715:p.Gln451Lys						p.Q451K	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	9	1578	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	451			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.1351C>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806996	0.90623	.	.	ENSG00000156395	ENST00000369701	T	0.33216	1.42	5.27	5.27	0.74061	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.54598	0.1868	M	0.83483	2.645	0.80722	D	1	D	0.55172	0.97	P	0.55161	0.77	T	0.59069	-0.7523	10	0.51188	T	0.08	.	19.2555	0.93944	0.0:1.0:0.0:0.0	.	451	Q9UPU3	SORC3_HUMAN	K	451	ENSP00000358715:Q451K	ENSP00000358715:Q451K	Q	+	1	0	SORCS3	106897413	1.000000	0.71417	0.997000	0.53966	0.919000	0.55068	7.776000	0.85560	2.639000	0.89480	0.650000	0.86243	CAA		PASS	0.488	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		47	73	47	73	---	---	---	---
GRK5	2869	broad.mit.edu	37	10	121212678	121212678	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr10:121212678A>G	ENST00000392870.2	+	15	1893	c.1564A>G	c.(1564-1566)Aag>Gag	p.K522E	GRK5_ENST00000473264.1_3'UTR|GRK5_ENST00000369108.3_Missense_Mutation_p.K417E	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	522					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)	p.K522E(1)		endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		AGAATGCTTTAAGGAGCTGAA	0.552																																						uc001led.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(1)	3						c.(1564-1566)AAG>GAG		G protein-coupled receptor kinase 5							157.0	161.0	159.0					10																	121212678		2203	4300	6503	SO:0001583	missense	2869				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	g.chr10:121212678A>G	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.1564A>G	10.37:g.121212678A>G	ENSP00000376609:p.Lys522Glu					GRK5_uc009xzh.2_Missense_Mutation_p.K387E	p.K522E	NM_005308	NP_005299	P34947	GRK5_HUMAN		all cancers(201;0.0227)	15	1797	+		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)	522					D3DRD0|Q5T059	Missense_Mutation	SNP	ENST00000392870.2	37	c.1564A>G	CCDS7612.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.402939	0.42613	.	.	ENSG00000198873	ENST00000392870;ENST00000457057;ENST00000369108	T;T	0.23754	1.89;1.89	4.69	4.69	0.59074	AGC-kinase, C-terminal (1);Protein kinase-like domain (1);	0.000000	0.64402	D	0.000011	T	0.14227	0.0344	L	0.28649	0.875	0.48511	D	0.999664	P;P	0.37781	0.608;0.608	B;B	0.24701	0.055;0.055	T	0.06215	-1.0839	10	0.08599	T	0.76	-13.2174	14.1716	0.65512	1.0:0.0:0.0:0.0	.	522;522	B2R7K0;P34947	.;GRK5_HUMAN	E	522;265;417	ENSP00000376609:K522E;ENSP00000358104:K417E	ENSP00000358104:K417E	K	+	1	0	GRK5	121202668	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.035000	0.70940	1.753000	0.51906	0.533000	0.62120	AAG		PASS	0.552	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308		123	153	123	153	---	---	---	---
C10orf90	118611	broad.mit.edu	37	10	128147613	128147613	+	Silent	SNP	C	C	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr10:128147613C>G	ENST00000284694.7	-	6	2013	c.1893G>C	c.(1891-1893)ctG>ctC	p.L631L	C10orf90_ENST00000454341.1_Silent_p.L534L|C10orf90_ENST00000544758.1_Silent_p.L728L|C10orf90_ENST00000480379.1_Silent_p.L35L|C10orf90_ENST00000356858.3_Silent_p.L584L	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	631	ALMS motif. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.L631L(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GCTTACCACTCAGAGGATGGG	0.582																																						uc001ljq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1891-1893)CTG>CTC		hypothetical protein LOC118611							119.0	91.0	101.0					10																	128147613		2203	4300	6503	SO:0001819	synonymous_variant	118611							g.chr10:128147613C>G	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1893G>C	10.37:g.128147613C>G						C10orf90_uc001ljp.2_Silent_p.L487L|C10orf90_uc010qum.1_Silent_p.L728L|C10orf90_uc001ljo.2_RNA	p.L631L	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	6	2014	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	631					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Silent	SNP	ENST00000284694.7	37	c.1893G>C	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	C	0.035	-1.309367	0.01342	.	.	ENSG00000154493	ENST00000424927	.	.	.	5.01	-9.85	0.00476	.	.	.	.	.	.	.	.	.	.	.	0.43462	D	0.995664	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.6806	16.6236	0.84936	0.1559:0.1117:0.7325:0.0	.	.	.	.	S	174	.	.	X	-	2	2	C10orf90	128137603	0.083000	0.21467	0.011000	0.14972	0.109000	0.19521	-1.583000	0.02115	-2.153000	0.00793	-1.744000	0.00683	TGA		PASS	0.582	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		29	36	29	36	---	---	---	---
CFAP46	54777	broad.mit.edu	37	10	134622126	134622126	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr10:134622126C>A	ENST00000368586.5	-	58	8047	c.7947G>T	c.(7945-7947)agG>agT	p.R2649S	TTC40_ENST00000263170.5_Missense_Mutation_p.R810S	NM_001200049.2	NP_001186978.2												p.R2649S(1)|p.R810S(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						ggggagggtccctggctgagg	0.706																																						uc010qux.1																			2	Substitution - Missense(2)		lung(2)								c.(7123-7125)AGG>AGT		Homo sapiens cDNA, FLJ17989.							14.0	15.0	15.0					10																	134622126		2192	4287	6479	SO:0001583	missense	0							g.chr10:134622126C>A																												ENST00000368586.5:c.7947G>T	10.37:g.134622126C>A	ENSP00000357575:p.Arg2649Ser						p.R2375S	NM_017609	NP_060079					50	7125	-									Missense_Mutation	SNP	ENST00000368586.5	37	c.7125G>T	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	C	8.016	0.758492	0.15846	.	.	ENSG00000171811	ENST00000368586;ENST00000263170	T;T	0.15603	2.77;2.41	1.64	-3.28	0.05033	.	.	.	.	.	T	0.06872	0.0175	N	0.08118	0	0.09310	N	1	B	0.27656	0.184	B	0.19391	0.025	T	0.27502	-1.0072	9	0.87932	D	0	.	4.7134	0.12884	0.0:0.5402:0.1956:0.2641	.	810	Q8IYW2	CJ092_HUMAN	S	2649;810	ENSP00000357575:R2649S;ENSP00000263170:R810S	ENSP00000263170:R810S	R	-	3	2	C10orf93	134472116	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.799000	0.00762	-1.270000	0.02433	-1.424000	0.01105	AGG		PASS	0.706	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			13	16	13	16	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1265818	1265818	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr11:1265818A>T	ENST00000529681.1	+	31	7766	c.7708A>T	c.(7708-7710)Act>Tct	p.T2570S	MUC5B_ENST00000447027.1_Missense_Mutation_p.T2573S|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2570	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.T2573S(1)|p.T2570S(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCCTCCTCCACTCCAGAGAC	0.657																																						uc009ycr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(9622-9624)ACT>TCT		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							85.0	105.0	98.0					11																	1265818		2046	4181	6227	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1265818A>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7708A>T	11.37:g.1265818A>T	ENSP00000436812:p.Thr2570Ser					MUC5B_uc001ltb.2_Missense_Mutation_p.T2573S	p.T3208S	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	48	9748	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2570	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.9622A>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	6.165	0.398549	0.11696	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19105	2.17;2.35	2.87	-5.73	0.02398	.	.	.	.	.	T	0.13415	0.0325	L	0.46741	1.465	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.06405	0.002;0.002	T	0.35549	-0.9784	9	0.87932	D	0	.	1.268	0.02015	0.1416:0.31:0.2969:0.2515	.	3208;2573	A7Y9J9;E9PBJ0	.;.	S	2570;2573;2542;2585	ENSP00000436812:T2570S;ENSP00000415793:T2573S	ENSP00000343037:T2542S	T	+	1	0	MUC5B	1222394	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-2.933000	0.00687	-1.597000	0.01609	0.164000	0.16699	ACT		PASS	0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		5	45	5	45	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1267918	1267918	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr11:1267918A>T	ENST00000529681.1	+	31	9866	c.9808A>T	c.(9808-9810)Act>Tct	p.T3270S	MUC5B_ENST00000447027.1_Missense_Mutation_p.T3273S|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3270	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.T3270S(1)|p.T3249S(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCCTCCTCTACTCCAGAGAC	0.647																																						uc009ycr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(11557-11559)ACT>TCT		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							106.0	138.0	128.0					11																	1267918		2062	4167	6229	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1267918A>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9808A>T	11.37:g.1267918A>T	ENSP00000436812:p.Thr3270Ser					MUC5B_uc001ltb.2_Missense_Mutation_p.T3273S	p.T3853S	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	49	11683	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3270	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.11557A>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	2.898	-0.228085	0.06022	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000538459	T;T	0.19105	2.17;2.35	1.92	-3.83	0.04269	.	.	.	.	.	T	0.17152	0.0412	M	0.67397	2.05	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.06405	0.002;0.002	T	0.38373	-0.9664	9	0.87932	D	0	.	0.9334	0.01340	0.3156:0.1627:0.3592:0.1625	.	3853;3273	A7Y9J9;E9PBJ0	.;.	S	3270;3273;3242;3230;155	ENSP00000436812:T3270S;ENSP00000415793:T3273S	ENSP00000343037:T3242S	T	+	1	0	MUC5B	1224494	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.187000	0.03067	-1.369000	0.02147	0.164000	0.16699	ACT		PASS	0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		5	4	5	4	---	---	---	---
OR52B4	143496	broad.mit.edu	37	11	4389334	4389334	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr11:4389334G>T	ENST00000408920.2	-	1	282	c.192C>A	c.(190-192)ttC>ttA	p.F64L		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	64					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F64L(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCATGCAGAGGAAGAGGTACA	0.532																																						uc010qye.1																			1	Substitution - Missense(1)		lung(1)		0						c.(190-192)TTC>TTA		olfactory receptor, family 52, subfamily B,							74.0	80.0	78.0					11																	4389334		2159	4274	6433	SO:0001583	missense	143496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4389334G>T	AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"""GPCR / Class A : Olfactory receptors"""	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.192C>A	11.37:g.4389334G>T	ENSP00000386160:p.Phe64Leu						p.F64L	NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	192	-		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)	64			Helical; Name=2; (Potential).		A6NP68|Q6IFK6	Missense_Mutation	SNP	ENST00000408920.2	37	c.192C>A	CCDS41609.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948917	0.73787	.	.	ENSG00000221996	ENST00000408920	T	0.13778	2.56	5.28	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	0.102743	0.43416	D	0.000568	T	0.25232	0.0613	M	0.73319	2.225	0.37536	D	0.918105	D	0.59357	0.985	P	0.53518	0.728	T	0.17653	-1.0362	10	0.66056	D	0.02	.	10.531	0.44977	0.2243:0.0:0.7757:0.0	.	64	Q8NGK2	O52B4_HUMAN	L	64	ENSP00000386160:F64L	ENSP00000386160:F64L	F	-	3	2	OR52B4	4345910	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	1.918000	0.40006	0.780000	0.33566	0.650000	0.86243	TTC		PASS	0.532	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	NM_001005161		19	27	19	27	---	---	---	---
OR51S1	119692	broad.mit.edu	37	11	4869506	4869506	+	Silent	SNP	G	G	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr11:4869506G>C	ENST00000322101.2	-	1	1008	c.933C>G	c.(931-933)ctC>ctG	p.L311L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L311L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAACCTGTTGAGTATTCTCT	0.448																																						uc010qyo.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(931-933)CTC>CTG		olfactory receptor, family 51, subfamily S,							138.0	130.0	133.0					11																	4869506		2201	4298	6499	SO:0001819	synonymous_variant	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4869506G>C	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.933C>G	11.37:g.4869506G>C							p.L311L	NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	933	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	311			Cytoplasmic (Potential).		B9EGZ1|Q6IFI2	Silent	SNP	ENST00000322101.2	37	c.933C>G	CCDS31362.1																																																																																				PASS	0.448	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		57	74	57	74	---	---	---	---
OR51L1	119682	broad.mit.edu	37	11	5020320	5020320	+	Silent	SNP	A	A	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr11:5020320A>G	ENST00000321543.1	+	1	108	c.108A>G	c.(106-108)gcA>gcG	p.A36A		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A36A(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTGTCTTGCATATTTGGTAG	0.423																																						uc010qyu.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(106-108)GCA>GCG		olfactory receptor, family 51, subfamily L,							243.0	220.0	228.0					11																	5020320		2201	4298	6499	SO:0001819	synonymous_variant	119682				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5020320A>G	AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.108A>G	11.37:g.5020320A>G							p.A36A	NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	108	+		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	36			Helical; Name=1; (Potential).		Q6IFE5	Silent	SNP	ENST00000321543.1	37	c.108A>G	CCDS31369.1																																																																																				PASS	0.423	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755		12	248	12	248	---	---	---	---
NLRP14	338323	broad.mit.edu	37	11	7079609	7079609	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr11:7079609T>A	ENST00000299481.4	+	8	2907	c.2561T>A	c.(2560-2562)gTc>gAc	p.V854D		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	854					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.V854D(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GCAGACAATGTCTTGGGTGAT	0.433																																						uc001mfb.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(2560-2562)GTC>GAC		NLR family, pyrin domain containing 14							203.0	172.0	183.0					11																	7079609		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7079609T>A	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2561T>A	11.37:g.7079609T>A	ENSP00000299481:p.Val854Asp						p.V854D	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	8	2884	+			854			LRR 5.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.2561T>A	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	T	0.037	-1.302001	0.01353	.	.	ENSG00000158077	ENST00000299481	T	0.39997	1.05	4.2	-2.61	0.06171	.	2.563990	0.01720	N	0.028237	T	0.17874	0.0429	N	0.03224	-0.385	0.09310	N	0.999998	P	0.36909	0.573	B	0.37833	0.259	T	0.04607	-1.0939	10	0.12103	T	0.63	.	3.0149	0.06057	0.3423:0.3373:0.0:0.3204	.	854	Q86W24	NAL14_HUMAN	D	854	ENSP00000299481:V854D	ENSP00000299481:V854D	V	+	2	0	NLRP14	7036185	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-0.404000	0.07205	-0.323000	0.08602	-0.417000	0.06048	GTC		PASS	0.433	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		87	95	87	95	---	---	---	---
CAPRIN1	4076	broad.mit.edu	37	11	34113458	34113458	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr11:34113458C>A	ENST00000341394.4	+	15	1749	c.1560C>A	c.(1558-1560)ttC>ttA	p.F520L	CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.F520L|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.F520L|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.F439L|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.F520L	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	520					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.F520L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				AACAGGTGTTCAATATGAATG	0.363																																						uc001mvh.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1558-1560)TTC>TTA		membrane component chromosome 11 surface marker							74.0	75.0	75.0					11																	34113458		2202	4298	6500	SO:0001583	missense	4076				negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding	g.chr11:34113458C>A	BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"""cytoplasmic activation/proliferation-associated protein-1"""	601178	"""membrane component, chromosome 11, surface marker 1"", ""GPI-anchored membrane protein 1"""	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.1560C>A	11.37:g.34113458C>A	ENSP00000340329:p.Phe520Leu					CAPRIN1_uc001mvg.2_Missense_Mutation_p.F520L|CAPRIN1_uc001mvi.2_Missense_Mutation_p.F520L|CAPRIN1_uc001mvj.1_Missense_Mutation_p.F439L	p.F520L	NM_005898	NP_005889	Q14444	CAPR1_HUMAN			15	1749	+		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)	520					A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	SNP	ENST00000341394.4	37	c.1560C>A	CCDS31453.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001117	0.74818	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000532820;ENST00000530820;ENST00000529307	T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39	5.35	2.43	0.29744	.	0.000000	0.85682	D	0.000000	T	0.55016	0.1894	M	0.80183	2.485	0.54753	D	0.999983	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.994	T	0.53885	-0.8375	10	0.16896	T	0.51	.	9.9207	0.41462	0.0:0.7261:0.0:0.2739	.	520;520	Q14444;Q14444-2	CAPR1_HUMAN;.	L	520;520;520;520;439	ENSP00000340329:F520L;ENSP00000374296:F520L;ENSP00000434150:F520L;ENSP00000434204:F520L;ENSP00000431581:F439L	ENSP00000340329:F520L	F	+	3	2	CAPRIN1	34070034	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.366000	0.44204	0.321000	0.23259	0.650000	0.86243	TTC		PASS	0.363	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2	NM_005898		21	119	21	119	---	---	---	---
OR4C11	219429	broad.mit.edu	37	11	55371231	55371231	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr11:55371231T>A	ENST00000302231.4	-	1	643	c.619A>T	c.(619-621)Agt>Tgt	p.S207C		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S207C(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						ATGAAACTACTTGAGCAAATT	0.423																																						uc010rii.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(619-621)AGT>TGT		olfactory receptor, family 4, subfamily C,							85.0	72.0	76.0					11																	55371231		2178	4006	6184	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371231T>A	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.619A>T	11.37:g.55371231T>A	ENSP00000306651:p.Ser207Cys						p.S207C	NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN			1	619	-			207			Helical; Name=5; (Potential).		B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.619A>T	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	T	10.38	1.334704	0.24253	.	.	ENSG00000172188	ENST00000302231	T	0.37752	1.18	4.34	-8.33	0.00992	GPCR, rhodopsin-like superfamily (1);	0.563014	0.16440	U	0.214353	T	0.27933	0.0688	N	0.25286	0.73	0.09310	N	1	D	0.67145	0.996	P	0.62813	0.907	T	0.24404	-1.0161	10	0.66056	D	0.02	.	2.2707	0.04090	0.2394:0.399:0.1221:0.2395	.	207	Q6IEV9	OR4CB_HUMAN	C	207	ENSP00000306651:S207C	ENSP00000306651:S207C	S	-	1	0	OR4C11	55127807	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.878000	0.00093	-1.747000	0.01333	-0.655000	0.03904	AGT		PASS	0.423	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		72	169	72	169	---	---	---	---
OR4C11	219429	broad.mit.edu	37	11	55371753	55371753	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr11:55371753A>C	ENST00000302231.4	-	1	121	c.97T>G	c.(97-99)Tat>Gat	p.Y33D		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y33D(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GTTCCCATATAGAAAATTAAG	0.388																																						uc010rii.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(97-99)TAT>GAT		olfactory receptor, family 4, subfamily C,							68.0	65.0	66.0					11																	55371753		2176	4001	6177	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371753A>C	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.97T>G	11.37:g.55371753A>C	ENSP00000306651:p.Tyr33Asp						p.Y33D	NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN			1	97	-			33			Helical; Name=1; (Potential).		B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.97T>G	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.020118	0.54576	.	.	ENSG00000172188	ENST00000302231	T	0.04654	3.58	4.34	4.34	0.51931	.	0.000000	0.44285	U	0.000472	T	0.34424	0.0897	H	0.99573	4.635	0.25367	N	0.988735	D	0.89917	1.0	D	0.91635	0.999	T	0.52786	-0.8529	10	0.72032	D	0.01	.	6.6259	0.22828	0.8931:0.0:0.1069:0.0	.	33	Q6IEV9	OR4CB_HUMAN	D	33	ENSP00000306651:Y33D	ENSP00000306651:Y33D	Y	-	1	0	OR4C11	55128329	0.565000	0.26610	0.086000	0.20670	0.005000	0.04900	3.891000	0.56227	1.962000	0.57031	0.391000	0.25812	TAT		PASS	0.388	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		78	183	78	183	---	---	---	---
MS4A8	83661	broad.mit.edu	37	11	60482589	60482589	+	Silent	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr11:60482589C>A	ENST00000300226.2	+	6	833	c.630C>A	c.(628-630)gtC>gtA	p.V210V		NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8	210						integral component of membrane (GO:0016021)		p.V210V(1)									GCCAGTTGGTCTGCTGTCAAT	0.547																																						uc001npv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(628-630)GTC>GTA		membrane-spanning 4-domains, subfamily A, member							158.0	124.0	136.0					11																	60482589		2203	4300	6503	SO:0001819	synonymous_variant	83661					integral to membrane	receptor activity	g.chr11:60482589C>A	AF237905	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959			13380	protein-coding gene	gene with protein product		606549	"""membrane-spanning 4-domains, subfamily A, member 8B"""	MS4A8B		11245982, 11401424	Standard	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	Q9BY19	OTTHUMG00000167686	ENST00000300226.2:c.630C>A	11.37:g.60482589C>A							p.V210V	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN			6	833	+			210			Cytoplasmic (Potential).		Q8TCA5	Silent	SNP	ENST00000300226.2	37	c.630C>A	CCDS7990.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634977	0.29068	.	.	ENSG00000166959	ENST00000529752	T	0.19105	2.17	4.49	4.49	0.54785	.	.	.	.	.	T	0.31136	0.0787	.	.	.	0.49213	D	0.999763	.	.	.	.	.	.	T	0.01390	-1.1367	6	0.34782	T	0.22	-0.1368	12.5472	0.56206	0.0:1.0:0.0:0.0	.	.	.	.	M	193	ENSP00000436857:L193M	ENSP00000436857:L193M	L	+	1	2	MS4A8B	60239165	0.428000	0.25522	0.025000	0.17156	0.011000	0.07611	1.656000	0.37355	2.339000	0.79563	0.655000	0.94253	CTG		PASS	0.547	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395605.1			105	159	105	159	---	---	---	---
SLC22A12	116085	broad.mit.edu	37	11	64360948	64360948	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr11:64360948C>A	ENST00000377574.1	+	3	1325	c.578C>A	c.(577-579)gCc>gAc	p.A193D	SLC22A12_ENST00000377567.2_Intron|SLC22A12_ENST00000336464.7_Intron|SLC22A12_ENST00000473690.1_Intron|SLC22A12_ENST00000377572.1_Intron	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	193					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)	p.A193D(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	GCTGCCTTCGCCCCTGCCTTC	0.617																																						uc001oam.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(577-579)GCC>GAC		urate anion exchanger 1 isoform a							102.0	87.0	92.0					11																	64360948		2201	4297	6498	SO:0001583	missense	116085				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	g.chr11:64360948C>A	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.578C>A	11.37:g.64360948C>A	ENSP00000366797:p.Ala193Asp					SLC22A12_uc009ypr.1_Missense_Mutation_p.A193D|SLC22A12_uc001oal.1_Intron|SLC22A12_uc009yps.1_Intron|SLC22A12_uc001oan.1_Intron|SLC22A12_uc009ypt.2_Missense_Mutation_p.A11D	p.A193D	NM_144585	NP_653186	Q96S37	S22AC_HUMAN			3	1325	+			193			Helical; (Potential).		B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Missense_Mutation	SNP	ENST00000377574.1	37	c.578C>A	CCDS8075.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823239	0.32237	.	.	ENSG00000197891	ENST00000377574	T	0.65178	-0.14	4.82	-0.853	0.10709	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.315665	0.34002	N	0.004358	T	0.78033	0.4220	M	0.93016	3.37	0.09310	N	1	D;D	0.60575	0.988;0.988	D;D	0.63703	0.917;0.917	T	0.69712	-0.5071	10	0.87932	D	0	.	9.0308	0.36258	0.0:0.4283:0.0:0.5717	.	193;193	B3KV05;Q96S37	.;S22AC_HUMAN	D	193	ENSP00000366797:A193D	ENSP00000366797:A193D	A	+	2	0	SLC22A12	64117524	0.001000	0.12720	0.005000	0.12908	0.039000	0.13416	1.329000	0.33770	-0.053000	0.13289	-0.291000	0.09656	GCC		PASS	0.617	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585		73	93	73	93	---	---	---	---
SF1	7536	broad.mit.edu	37	11	64535193	64535193	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr11:64535193G>A	ENST00000377390.3	-	10	1529	c.1192C>T	c.(1192-1194)Cca>Tca	p.P398S	SF1_ENST00000227503.9_Missense_Mutation_p.P398S|SF1_ENST00000334944.5_Missense_Mutation_p.P398S|SF1_ENST00000489544.1_5'Flank|SF1_ENST00000433274.2_Missense_Mutation_p.P372S|SF1_ENST00000422298.2_Missense_Mutation_p.P283S|SF1_ENST00000377394.3_Missense_Mutation_p.P398S|SF1_ENST00000377387.1_Missense_Mutation_p.P523S	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	398	Pro-rich.				Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.P398S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						AATGGGTGTGGGAAGCTGTGG	0.652											OREG0004010|OREG0021062	type=REGULATORY REGION|Gene=LOC476031|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001obb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(1192-1194)CCA>TCA		splicing factor 1 isoform 1							48.0	52.0	51.0					11																	64535193		2201	4297	6498	SO:0001583	missense	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64535193G>A	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.1192C>T	11.37:g.64535193G>A	ENSP00000366607:p.Pro398Ser		OREG0004010|OREG0021062	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=REGULATORY REGION|Gene=LOC476031|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1077	SF1_uc010rnm.1_Missense_Mutation_p.P90S|SF1_uc010rnn.1_Missense_Mutation_p.P372S|SF1_uc001oaz.1_Missense_Mutation_p.P523S|SF1_uc001oba.1_Missense_Mutation_p.P398S|SF1_uc001obc.1_Missense_Mutation_p.P398S|SF1_uc001obd.1_Missense_Mutation_p.P398S|SF1_uc001obe.1_Missense_Mutation_p.P283S|SF1_uc010rno.1_Missense_Mutation_p.P283S	p.P398S	NM_004630	NP_004621	Q15637	SF01_HUMAN			10	1569	-			398			Pro-rich.		B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	c.1192C>T	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893602	0.72639	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000443908;ENST00000433274;ENST00000486867	T;T;T;T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15	5.82	5.82	0.92795	.	0.110813	0.64402	D	0.000005	T	0.65709	0.2717	L	0.31664	0.95	0.80722	D	1	D;D;D;D;D;D	0.67145	0.993;0.996;0.996;0.993;0.996;0.996	D;D;D;D;D;D	0.78314	0.968;0.986;0.986;0.968;0.986;0.991	T	0.60021	-0.7344	10	0.26408	T	0.33	.	17.596	0.88012	0.0:0.0:1.0:0.0	.	283;398;398;398;398;523	B4DX42;Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;.;SF01_HUMAN;.;.	S	523;398;398;398;398;283;42;372;119	ENSP00000366604:P523S;ENSP00000366607:P398S;ENSP00000227503:P398S;ENSP00000366611:P398S;ENSP00000334414:P398S;ENSP00000413084:P283S;ENSP00000391198:P42S;ENSP00000396793:P372S;ENSP00000419062:P119S	ENSP00000227503:P398S	P	-	1	0	SF1	64291769	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.596000	0.90844	2.759000	0.94783	0.555000	0.69702	CCA		PASS	0.652	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		43	72	43	72	---	---	---	---
CDC42BPG	55561	broad.mit.edu	37	11	64597312	64597312	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr11:64597312T>G	ENST00000342711.5	-	30	3597	c.3598A>C	c.(3598-3600)Aag>Cag	p.K1200Q	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)									p.K1200Q(1)		central_nervous_system(1)|lung(3)	4						ACCTGGCGCTTGACGGCTACA	0.692																																						uc001obs.3																			1	Substitution - Missense(1)		lung(1)	lung(3)|central_nervous_system(1)	4						c.(3598-3600)AAG>CAG		CDC42 binding protein kinase gamma (DMPK-like)							13.0	15.0	14.0					11																	64597312		2163	4229	6392	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64597312T>G	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.3598A>C	11.37:g.64597312T>G	ENSP00000345133:p.Lys1200Gln						p.K1200Q	NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN			30	3598	-			1200			CNH.			Missense_Mutation	SNP	ENST00000342711.5	37	c.3598A>C	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.358601	0.82243	.	.	ENSG00000171219	ENST00000342711	T	0.06768	3.26	4.79	4.79	0.61399	Citron-like (2);	0.000000	0.43579	D	0.000541	T	0.30166	0.0756	M	0.82323	2.585	0.46131	D	0.998884	D	0.76494	0.999	D	0.75020	0.985	T	0.06844	-1.0804	10	0.87932	D	0	.	12.6208	0.56601	0.0:0.0:0.0:1.0	.	1200	Q6DT37	MRCKG_HUMAN	Q	1200	ENSP00000345133:K1200Q	ENSP00000345133:K1200Q	K	-	1	0	CDC42BPG	64353888	1.000000	0.71417	0.071000	0.20095	0.937000	0.57800	5.601000	0.67606	1.945000	0.56424	0.533000	0.62120	AAG		PASS	0.692	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		14	26	14	26	---	---	---	---
PPP2R5B	5526	broad.mit.edu	37	11	64695363	64695363	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr11:64695363G>A	ENST00000164133.2	+	4	1108	c.486G>A	c.(484-486)tgG>tgA	p.W162*		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	162					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.W162*(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						AGCCTTCGTGGCCACACCTGC	0.547																																						uc001oby.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(484-486)TGG>TGA		beta isoform of regulatory subunit B56, protein							73.0	68.0	70.0					11																	64695363		2201	4297	6498	SO:0001587	stop_gained	5526				signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr11:64695363G>A	L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9310	protein-coding gene	gene with protein product	"""PP2A, B subunit, B' beta isoform"", ""PP2A, B subunit, B56 beta isoform"", ""PP2A, B subunit, PR61 beta isoform"", ""PP2A, B subunit, R5 beta isoform"", ""serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"""	601644	"""protein phosphatase 2, regulatory subunit B (B56), beta isoform"", ""protein phosphatase 2, regulatory subunit B', beta isoform"""			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.486G>A	11.37:g.64695363G>A	ENSP00000164133:p.Trp162*					PPP2R5B_uc001obz.2_Nonsense_Mutation_p.W162*	p.W162*	NM_006244	NP_006235	Q15173	2A5B_HUMAN			4	1071	+			162					Q13853	Nonsense_Mutation	SNP	ENST00000164133.2	37	c.486G>A	CCDS8085.1	.	.	.	.	.	.	.	.	.	.	G	41	8.969128	0.99019	.	.	ENSG00000068971	ENST00000526559;ENST00000164133;ENST00000359279;ENST00000532850;ENST00000527441	.	.	.	3.51	3.51	0.40186	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.7811	13.3646	0.60676	0.0:0.0:1.0:0.0	.	.	.	.	X	162;162;189;76;162	.	ENSP00000164133:W162X	W	+	3	0	PPP2R5B	64451939	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.414000	0.80117	2.284000	0.76573	0.561000	0.74099	TGG		PASS	0.547	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	NM_006244		4	128	4	128	---	---	---	---
TSGA10IP	254187	broad.mit.edu	37	11	65715500	65715500	+	RNA	SNP	G	G	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr11:65715500G>C	ENST00000532620.1	+	0	1263				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein									p.L314F(1)		endometrium(2)|kidney(3)|lung(9)	14						GGAAGACTTTGAGGGCTGCCT	0.617																																						uc001ogk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1030-1032)TTG>TTC		testis specific, 10 interacting protein							18.0	20.0	19.0					11																	65715500		1920	4111	6031			254187							g.chr11:65715500G>C	AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65715500G>C						TSGA10IP_uc009yqw.1_Intron|TSGA10IP_uc009yqx.1_Intron	p.L344F	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN			6	1064	+			344					Q3SXZ9|Q3SY01|Q96M26	Missense_Mutation	SNP	ENST00000532620.1	37	c.1032G>C																																																																																					PASS	0.617	TSGA10IP-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000391373.2	NM_152762		6	10	6	10	---	---	---	---
SART1	9092	broad.mit.edu	37	11	65743954	65743954	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr11:65743954A>T	ENST00000312397.5	+	13	1753	c.1661A>T	c.(1660-1662)aAc>aTc	p.N554I		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	554					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.N554I(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ATCGTGTTCAACGCCACGTCC	0.662																																						uc001ogl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1660-1662)AAC>ATC		squamous cell carcinoma antigen recognized by T							40.0	40.0	40.0					11																	65743954		2201	4296	6497	SO:0001583	missense	9092				cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol		g.chr11:65743954A>T	AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"""	605941	"""squamous cell carcinoma antigen recognised by T cells"""			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.1661A>T	11.37:g.65743954A>T	ENSP00000310448:p.Asn554Ile						p.N554I	NM_005146	NP_005137	O43290	SNUT1_HUMAN			13	1753	+			554					A6NDN1|Q53GB5	Missense_Mutation	SNP	ENST00000312397.5	37	c.1661A>T	CCDS31611.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.378408	0.82682	.	.	ENSG00000175467	ENST00000312397;ENST00000542816	T	0.28255	1.62	5.63	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.56337	0.1978	M	0.83483	2.645	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.60505	-0.7250	10	0.87932	D	0	-37.0013	10.9446	0.47294	0.8427:0.1573:0.0:0.0	.	554	O43290	SNUT1_HUMAN	I	554;396	ENSP00000310448:N554I	ENSP00000310448:N554I	N	+	2	0	SART1	65500530	1.000000	0.71417	0.921000	0.36526	0.888000	0.51559	6.369000	0.73109	0.921000	0.36994	0.402000	0.26972	AAC		PASS	0.662	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391409.1			13	43	13	43	---	---	---	---
CCDC87	55231	broad.mit.edu	37	11	66359969	66359969	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr11:66359969C>A	ENST00000333861.3	-	1	585	c.518G>T	c.(517-519)cGt>cTt	p.R173L	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	173					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)			p.R173L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AAGCAGGCCACGGTAGACGTT	0.642																																						uc001oiq.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(517-519)CGT>CTT		coiled-coil domain containing 87							46.0	44.0	45.0					11																	66359969		2200	4295	6495	SO:0001583	missense	55231							g.chr11:66359969C>A	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.518G>T	11.37:g.66359969C>A	ENSP00000328487:p.Arg173Leu					CCS_uc001oir.2_5'Flank	p.R173L	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN			1	586	-			173					Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	c.518G>T	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.105274	0.56291	.	.	ENSG00000182791	ENST00000333861	T	0.35605	1.3	5.2	1.23	0.21249	.	0.601209	0.13876	N	0.356655	T	0.38878	0.1057	M	0.70595	2.14	0.20307	N	0.999917	D	0.56287	0.975	P	0.45946	0.498	T	0.26292	-1.0107	10	0.66056	D	0.02	-1.4093	7.2564	0.26179	0.0:0.6358:0.0:0.3642	.	173	Q9NVE4	CCD87_HUMAN	L	173	ENSP00000328487:R173L	ENSP00000328487:R173L	R	-	2	0	CCDC87	66116545	0.087000	0.21565	0.375000	0.26029	0.476000	0.33039	0.163000	0.16520	0.361000	0.24292	0.655000	0.94253	CGT		PASS	0.642	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		40	47	40	47	---	---	---	---
KCTD14	65987	broad.mit.edu	37	11	77728080	77728080	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr11:77728080C>A	ENST00000353172.5	-	2	371	c.327G>T	c.(325-327)gaG>gaT	p.E109D	KCTD14_ENST00000533144.1_Missense_Mutation_p.E79D|NDUFC2-KCTD14_ENST00000528251.1_3'UTR|RP11-7I15.3_ENST00000533697.1_RNA	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	109	BTB.				protein homooligomerization (GO:0051260)			p.E109D(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			AGAACTGAGCCTCACGGTACA	0.547																																					NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)	uc001oyw.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(325-327)GAG>GAT		potassium channel tetramerisation domain							78.0	68.0	71.0					11																	77728080		2200	4292	6492	SO:0001583	missense	65987					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:77728080C>A	BC001062	CCDS8255.2, CCDS60908.1	11q13.4	2013-06-20	2013-06-20		ENSG00000151364	ENSG00000151364			23295	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 14"""			12477932	Standard	NM_023930		Approved	MGC2376	uc001oyw.4	Q9BQ13	OTTHUMG00000150224	ENST00000353172.5:c.327G>T	11.37:g.77728080C>A	ENSP00000316482:p.Glu109Asp						p.E109D	NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1e-24)		2	352	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		109			BTB.		B2R9R8	Missense_Mutation	SNP	ENST00000353172.5	37	c.327G>T	CCDS8255.2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086509	0.76642	.	.	ENSG00000151364	ENST00000353172;ENST00000533144	D;D	0.86230	-2.09;-2.09	5.28	-0.777	0.10981	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.91240	0.7239	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88429	0.3034	10	0.87932	D	0	.	6.2113	0.20631	0.0:0.4908:0.1319:0.3772	.	109	Q9BQ13	KCD14_HUMAN	D	109;79	ENSP00000316482:E109D;ENSP00000431155:E79D	ENSP00000316482:E109D	E	-	3	2	KCTD14	77405728	0.993000	0.37304	0.999000	0.59377	0.894000	0.52154	0.284000	0.18864	0.176000	0.19873	0.561000	0.74099	GAG		PASS	0.547	KCTD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316888.1	NM_023930		53	58	53	58	---	---	---	---
DDIAS	220042	broad.mit.edu	37	11	82643506	82643506	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr11:82643506C>T	ENST00000533655.1	+	6	1338	c.1126C>T	c.(1126-1128)Cat>Tat	p.H376Y	C11orf82_ENST00000329143.3_Missense_Mutation_p.H75Y|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.H376Y	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		376					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.H376Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TTTTCAGCATCATGGTATAGA	0.458																																						uc001ozt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1126-1128)CAT>TAT		nitric oxide-inducible gene protein							220.0	231.0	227.0					11																	82643506		2203	4300	6503	SO:0001583	missense	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82643506C>T																												ENST00000533655.1:c.1126C>T	11.37:g.82643506C>T	ENSP00000435421:p.His376Tyr					C11orf82_uc010rsr.1_Missense_Mutation_p.H75Y|C11orf82_uc010rss.1_Missense_Mutation_p.H75Y|C11orf82_uc009yvd.2_Intron	p.H376Y	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN			6	1370	+			376					Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	c.1126C>T	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	C	1.505	-0.551141	0.03996	.	.	ENSG00000165490	ENST00000430323;ENST00000533655;ENST00000329143	T;T;T	0.43294	0.95;0.95;0.95	5.84	0.492	0.16872	.	1.692490	0.02605	N	0.101533	T	0.30665	0.0772	L	0.38531	1.155	0.09310	N	1	B	0.18013	0.025	B	0.12837	0.008	T	0.06954	-1.0798	9	.	.	.	.	1.6912	0.02853	0.1338:0.4443:0.1302:0.2917	.	376	Q8IXT1	NOXIN_HUMAN	Y	376;376;75	ENSP00000414687:H376Y;ENSP00000435421:H376Y;ENSP00000329930:H75Y	.	H	+	1	0	C11orf82	82321154	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.117000	0.15583	-0.145000	0.11294	-0.259000	0.10710	CAT		PASS	0.458	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			111	606	111	606	---	---	---	---
SYTL2	54843	broad.mit.edu	37	11	85429842	85429842	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr11:85429842C>A	ENST00000528231.1	-	9	1883	c.1606G>T	c.(1606-1608)Gct>Tct	p.A536S	SYTL2_ENST00000354566.3_Missense_Mutation_p.A858S|SYTL2_ENST00000359152.5_Missense_Mutation_p.A1382S|SYTL2_ENST00000525423.1_Missense_Mutation_p.A858S|SYTL2_ENST00000528566.1_5'UTR|SYTL2_ENST00000389958.3_5'UTR|SYTL2_ENST00000533892.1_5'UTR|SYTL2_ENST00000524452.1_Missense_Mutation_p.A536S|SYTL2_ENST00000527523.1_Missense_Mutation_p.A488S|SYTL2_ENST00000316356.4_Missense_Mutation_p.A537S|SYTL2_ENST00000529581.1_5'UTR|SYTL2_ENST00000389960.4_Missense_Mutation_p.A536S	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	536					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.A858S(1)|p.A537S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CCATCTTCAGCACTACGCACT	0.408																																						uc010rth.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.(1606-1608)GCT>TCT		synaptotagmin-like 2 isoform g							147.0	116.0	126.0					11																	85429842		2203	4299	6502	SO:0001583	missense	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85429842C>A	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1606G>T	11.37:g.85429842C>A	ENSP00000431701:p.Ala536Ser					SYTL2_uc010rtg.1_Missense_Mutation_p.A537S|SYTL2_uc010rti.1_Missense_Mutation_p.A536S|SYTL2_uc010rtj.1_Missense_Mutation_p.A488S|SYTL2_uc010rte.1_5'UTR|SYTL2_uc001pax.2_5'UTR|SYTL2_uc001paz.2_5'UTR|SYTL2_uc001pba.2_5'UTR|SYTL2_uc001pay.2_5'UTR|SYTL2_uc001paw.2_5'UTR|SYTL2_uc009yvj.2_RNA|SYTL2_uc001pbd.2_Missense_Mutation_p.A858S|SYTL2_uc001pbb.2_Missense_Mutation_p.A858S|SYTL2_uc001pbc.2_Missense_Mutation_p.A858S|SYTL2_uc010rtf.1_Missense_Mutation_p.A394S	p.A536S	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	9	1882	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	536					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	c.1606G>T	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.484885	0.26598	.	.	ENSG00000137501	ENST00000389960;ENST00000359152;ENST00000354566;ENST00000316356;ENST00000525423;ENST00000530351;ENST00000528231;ENST00000527523;ENST00000524452;ENST00000534414	T;T;T;T;T;T;T;T;T	0.50001	1.6;1.58;1.39;1.73;1.59;0.76;1.7;1.51;1.6	6.07	5.16	0.70880	.	0.335616	0.32802	N	0.005638	T	0.62612	0.2442	L	0.54323	1.7	0.38731	D	0.953671	D;D;P;D;D;D;P;D	0.76494	0.984;0.998;0.765;0.984;0.996;0.999;0.694;0.999	P;D;B;P;D;D;B;D	0.76071	0.846;0.972;0.353;0.846;0.94;0.987;0.43;0.987	T	0.64989	-0.6277	9	.	.	.	-14.5009	13.6807	0.62484	0.0:0.929:0.0:0.071	.	488;536;536;537;394;858;858;858	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15;Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;SYTL2_HUMAN;.;.;.;.;.	S	536;1382;858;537;858;277;536;488;536;31	ENSP00000374610:A536S;ENSP00000352065:A1382S;ENSP00000346576:A858S;ENSP00000318803:A537S;ENSP00000432694:A858S;ENSP00000435009:A277S;ENSP00000431701:A536S;ENSP00000434010:A488S;ENSP00000435238:A536S	.	A	-	1	0	SYTL2	85107490	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.038000	0.64177	1.588000	0.49971	0.650000	0.86243	GCT		PASS	0.408	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		14	49	14	49	---	---	---	---
CTSC	1075	broad.mit.edu	37	11	88029410	88029410	+	Silent	SNP	T	T	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr11:88029410T>G	ENST00000227266.5	-	6	894	c.780A>C	c.(778-780)tcA>tcC	p.S260S		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	260					aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)	p.S260S(1)		large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TAGAAGCAAATGAGTAGCAGC	0.448																																						uc001pck.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(778-780)TCA>TCC		cathepsin C isoform a preproprotein							81.0	80.0	81.0					11																	88029410		2201	4299	6500	SO:0001819	synonymous_variant	1075				immune response	lysosome	cysteine-type endopeptidase activity	g.chr11:88029410T>G	AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"""Cathepsins"""	2528	protein-coding gene	gene with protein product	"""dipeptidyl peptidase 1"""	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.780A>C	11.37:g.88029410T>G						CTSC_uc001pcl.3_Silent_p.S112S	p.S260S	NM_001814	NP_001805	P53634	CATC_HUMAN			6	881	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	260					A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Silent	SNP	ENST00000227266.5	37	c.780A>C	CCDS8282.1	.	.	.	.	.	.	.	.	.	.	T	11.01	1.513602	0.27123	.	.	ENSG00000109861	ENST00000527018	.	.	.	5.95	2.31	0.28768	.	.	.	.	.	T	0.51702	0.1690	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39781	-0.9597	4	.	.	.	.	4.8641	0.13600	0.1059:0.0669:0.3987:0.4285	.	.	.	.	P	217	.	.	H	-	2	0	CTSC	87669058	0.118000	0.22208	1.000000	0.80357	0.992000	0.81027	-0.993000	0.03720	0.459000	0.27016	0.533000	0.62120	CAT		PASS	0.448	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	NM_001814		23	54	23	54	---	---	---	---
KBTBD3	143879	broad.mit.edu	37	11	105923716	105923716	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr11:105923716T>G	ENST00000526793.1	-	3	1859	c.1700A>C	c.(1699-1701)gAt>gCt	p.D567A	KBTBD3_ENST00000531837.1_Missense_Mutation_p.D567A|KBTBD3_ENST00000534815.1_Missense_Mutation_p.D488A	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	563								p.D567A(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		CTGCACTTCATCTGTGATTTC	0.393																																						uc001pja.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1699-1701)GAT>GCT		BTB and kelch domain containing 3							123.0	122.0	122.0					11																	105923716		2201	4298	6499	SO:0001583	missense	143879							g.chr11:105923716T>G	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.1700A>C	11.37:g.105923716T>G	ENSP00000436262:p.Asp567Ala					KBTBD3_uc001pjb.2_Missense_Mutation_p.D567A|KBTBD3_uc009yxm.2_Missense_Mutation_p.D488A	p.D567A	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	4	2340	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	563			Kelch 5.		Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000526793.1	37	c.1700A>C	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	T	11.23	1.576071	0.28092	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	T;T;T	0.79033	-1.23;-1.23;-1.23	5.97	5.97	0.96955	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.83133	0.5188	L	0.42245	1.32	0.58432	D	0.999999	P;D	0.89917	0.536;1.0	B;D	0.91635	0.373;0.999	T	0.79097	-0.1943	10	0.17369	T	0.5	.	16.4383	0.83889	0.0:0.0:0.0:1.0	.	567;563	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	A	488;567;567	ENSP00000431910:D488A;ENSP00000436262:D567A;ENSP00000432163:D567A	ENSP00000436262:D567A	D	-	2	0	KBTBD3	105428926	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.635000	0.83286	2.287000	0.76781	0.482000	0.46254	GAT		PASS	0.393	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433		70	202	70	202	---	---	---	---
CWF19L2	143884	broad.mit.edu	37	11	107299577	107299577	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr11:107299577C>G	ENST00000282251.5	-	8	1408	c.1381G>C	c.(1381-1383)Gat>Cat	p.D461H	CWF19L2_ENST00000433523.1_Missense_Mutation_p.D461H	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	461							catalytic activity (GO:0003824)	p.D461H(1)|p.D307H(1)		endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		GGAGGGTCATCTCTCAAGACT	0.363																																						uc010rvp.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1381-1383)GAT>CAT		CWF19-like 2, cell cycle control							206.0	206.0	206.0					11																	107299577		2201	4298	6499	SO:0001583	missense	143884						catalytic activity	g.chr11:107299577C>G	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1381G>C	11.37:g.107299577C>G	ENSP00000282251:p.Asp461His					CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	p.D461H	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	8	1411	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	461					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	c.1381G>C	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	C	8.393	0.840168	0.16891	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.17691	2.95;2.26	5.2	2.2	0.27929	.	1.583470	0.02888	N	0.133819	T	0.16685	0.0401	L	0.43701	1.375	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.24440	-1.0160	10	0.46703	T	0.11	1.3201	4.2376	0.10634	0.1394:0.5916:0.1362:0.1328	.	461	Q2TBE0	C19L2_HUMAN	H	461	ENSP00000282251:D461H;ENSP00000387533:D461H	ENSP00000282251:D461H	D	-	1	0	CWF19L2	106804787	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.399000	0.07250	0.653000	0.30826	0.609000	0.83330	GAT		PASS	0.363	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		135	436	135	436	---	---	---	---
SLC35F2	54733	broad.mit.edu	37	11	107677463	107677463	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr11:107677463G>A	ENST00000525815.1	-	4	974	c.554C>T	c.(553-555)gCa>gTa	p.A185V	SLC35F2_ENST00000525071.1_Missense_Mutation_p.A185V|SLC35F2_ENST00000375682.4_Missense_Mutation_p.A138V|SLC35F2_ENST00000265836.7_Missense_Mutation_p.A37V|SLC35F2_ENST00000429869.1_Missense_Mutation_p.A185V	NM_017515.4	NP_059985.2	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	185					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.A185V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		TTCCCTCCCTGCTAGTATGTC	0.423																																						uc001pjq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(553-555)GCA>GTA		solute carrier family 35, member F2							113.0	115.0	114.0					11																	107677463		2002	4180	6182	SO:0001583	missense	54733				transport	integral to membrane		g.chr11:107677463G>A		CCDS41709.1	11q22.3	2013-05-22			ENSG00000110660	ENSG00000110660		"""Solute carriers"""	23615	protein-coding gene	gene with protein product						9119394	Standard	NM_017515		Approved	FLJ13018	uc001pjq.3	Q8IXU6	OTTHUMG00000166366	ENST00000525815.1:c.554C>T	11.37:g.107677463G>A	ENSP00000436785:p.Ala185Val					SLC35F2_uc010rvu.1_Missense_Mutation_p.A37V|SLC35F2_uc001pjs.2_Missense_Mutation_p.A185V	p.A185V	NM_017515	NP_059985	Q8IXU6	S35F2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)	4	975	-		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)	185			Helical; (Potential).		Q14963|Q5JPA8|Q6ZRQ3|Q9H947	Missense_Mutation	SNP	ENST00000525815.1	37	c.554C>T	CCDS41709.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455109	0.84209	.	.	ENSG00000110660	ENST00000525815;ENST00000525071;ENST00000265836;ENST00000375682;ENST00000429869	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.54935	0.1889	L	0.28344	0.845	0.58432	D	0.999992	B;B	0.28713	0.22;0.09	B;B	0.38056	0.264;0.204	T	0.49826	-0.8898	9	0.15952	T	0.53	.	18.0192	0.89250	0.0:0.0:1.0:0.0	.	185;185	E9PJD1;Q8IXU6	.;S35F2_HUMAN	V	185;185;37;138;185	.	ENSP00000265836:A37V	A	-	2	0	SLC35F2	107182673	1.000000	0.71417	0.973000	0.42090	0.782000	0.44232	9.204000	0.95041	2.245000	0.73994	0.655000	0.94253	GCA		PASS	0.423	SLC35F2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389417.1	NM_017515		55	116	55	116	---	---	---	---
NPAT	4863	broad.mit.edu	37	11	108032210	108032210	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr11:108032210T>C	ENST00000278612.8	-	17	3708	c.3603A>G	c.(3601-3603)atA>atG	p.I1201M		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1201					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.I1201M(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GCAGTGAAGCTATAGATTTCT	0.353																																						uc001pjz.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3601-3603)ATA>ATG		nuclear protein,  ataxia-telangiectasia locus							279.0	273.0	275.0					11																	108032210		1834	4097	5931	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108032210T>C	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.3603A>G	11.37:g.108032210T>C	ENSP00000278612:p.Ile1201Met					NPAT_uc010rvv.1_Missense_Mutation_p.I257M	p.I1201M	NM_002519	NP_002510	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	17	3705	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1201					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.3603A>G	CCDS41710.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.210|5.210	0.224181|0.224181	0.09863|0.09863	.|.	.|.	ENSG00000149308|ENSG00000149308	ENST00000278612|ENST00000527296	T|.	0.04083|.	3.71|.	6.07|6.07	-8.87|-8.87	0.00792|0.00792	.|.	0.629715|.	0.15902|.	N|.	0.239018|.	T|.	0.28764|.	0.0713|.	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	B|.	0.16396|.	0.017|.	B|.	0.10450|.	0.005|.	T|.	0.34079|.	-0.9843|.	10|.	0.49607|.	T|.	0.09|.	1.3006|1.3006	4.1777|4.1777	0.10360|0.10360	0.2211:0.45:0.1657:0.1631|0.2211:0.45:0.1657:0.1631	.|.	1201|.	Q14207|.	NPAT_HUMAN|.	M|W	1201|200	ENSP00000278612:I1201M|.	ENSP00000278612:I1201M|.	I|X	-|-	3|2	3|0	NPAT|NPAT	107537420|107537420	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.245000|0.245000	0.25701|0.25701	-0.379000|-0.379000	0.07437|0.07437	-1.084000|-1.084000	0.03092|0.03092	-0.256000|-0.256000	0.11100|0.11100	ATA|TAG		PASS	0.353	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		302	593	302	593	---	---	---	---
HSPA8	3312	broad.mit.edu	37	11	122928975	122928975	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr11:122928975C>A	ENST00000532636.1	-	8	1859	c.1740G>T	c.(1738-1740)tgG>tgT	p.W580C	HSPA8_ENST00000526110.1_Missense_Mutation_p.W561C|HSPA8_ENST00000533540.1_Missense_Mutation_p.W434C|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000227378.3_Missense_Mutation_p.W580C|HSPA8_ENST00000534319.1_Missense_Mutation_p.W344C|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000534624.1_Missense_Mutation_p.W580C|SNORD14C_ENST00000365382.1_RNA|SNORD14E_ENST00000364009.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	580					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.W580C(1)		breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TCTTATCAAGCCAGTTGATAA	0.388																																					Colon(21;486 594 5900 6733 14272)	uc001pyo.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|lung(1)	8						c.(1738-1740)TGG>TGT		heat shock 70kDa protein 8 isoform 1							81.0	86.0	84.0					11																	122928975		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122928975C>A	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1740G>T	11.37:g.122928975C>A	ENSP00000437125:p.Trp580Cys					HSPA8_uc009zbc.2_Missense_Mutation_p.W344C|HSPA8_uc001pyp.2_Intron|HSPA8_uc010rzu.1_Missense_Mutation_p.W503C	p.W580C	NM_006597	NP_006588	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	8	1818	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	580					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.1740G>T	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.929747	0.73327	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000524552;ENST00000526686	T;T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.63129	0.2485	H	0.97611	4.04	0.80722	D	1	D;D	0.71674	0.998;0.98	D;D	0.73708	0.981;0.981	T	0.79019	-0.1974	10	0.87932	D	0	-3.5212	18.193	0.89813	0.0:1.0:0.0:0.0	.	580;580	Q53GZ6;P11142	.;HSP7C_HUMAN	C	580;434;580;580;344;561;171;132	ENSP00000437125:W580C;ENSP00000437189:W434C;ENSP00000432083:W580C;ENSP00000227378:W580C;ENSP00000433316:W344C;ENSP00000433584:W561C;ENSP00000435908:W171C;ENSP00000435019:W132C	ENSP00000227378:W580C	W	-	3	0	HSPA8	122434185	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.786000	0.85741	2.373000	0.80994	0.561000	0.74099	TGG		PASS	0.388	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			70	177	70	177	---	---	---	---
SPATA19	219938	broad.mit.edu	37	11	133715045	133715045	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr11:133715045T>C	ENST00000299140.3	-	2	173	c.119A>G	c.(118-120)cAt>cGt	p.H40R	SPATA19_ENST00000532889.1_Missense_Mutation_p.H40R	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	40					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	mitochondrial outer membrane (GO:0005741)		p.H40R(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		CAACCAATGATGTAGTACAGA	0.438																																						uc001qgv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(118-120)CAT>CGT		spermatogenesis associated 19 precursor							170.0	158.0	162.0					11																	133715045		2201	4297	6498	SO:0001583	missense	219938				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane		g.chr11:133715045T>C	AK098717	CCDS8493.1	11q25	2010-04-23				ENSG00000166118			30614	protein-coding gene	gene with protein product	"""spergen 1"", ""cancer/testis antigen 132"""	609805				12477932	Standard	XM_005271448		Approved	FLJ25851, spergen1, SPAS1, CT132	uc001qgv.1	Q7Z5L4		ENST00000299140.3:c.119A>G	11.37:g.133715045T>C	ENSP00000299140:p.His40Arg						p.H40R	NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)	2	170	-	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)	40					Q8N7A9	Missense_Mutation	SNP	ENST00000299140.3	37	c.119A>G	CCDS8493.1	.	.	.	.	.	.	.	.	.	.	T	13.61	2.289048	0.40494	.	.	ENSG00000166118	ENST00000299140;ENST00000532889	T;T	0.41400	1.0;1.0	5.33	5.33	0.75918	.	0.358632	0.23780	N	0.044622	T	0.24509	0.0594	N	0.08118	0	0.21604	N	0.999621	B	0.02656	0.0	B	0.01281	0.0	T	0.16541	-1.0399	10	0.51188	T	0.08	-0.5588	11.6606	0.51345	0.0:0.0:0.0:1.0	.	40	Q7Z5L4	SPT19_HUMAN	R	40	ENSP00000299140:H40R;ENSP00000435248:H40R	ENSP00000299140:H40R	H	-	2	0	SPATA19	133220255	0.997000	0.39634	0.810000	0.32431	0.952000	0.60782	3.820000	0.55693	2.021000	0.59480	0.460000	0.39030	CAT		PASS	0.438	SPATA19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393281.1	NM_174927		29	198	29	198	---	---	---	---
GLB1L3	112937	broad.mit.edu	37	11	134151966	134151966	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr11:134151966G>A	ENST00000431683.2	+	5	479	c.479G>A	c.(478-480)cGt>cAt	p.R160H	GLB1L3_ENST00000389887.5_Missense_Mutation_p.R160H	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	160					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)	p.R160H(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GTGATTCTGCGTCCAGGCCGC	0.617																																						uc009zdf.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(478-480)CGT>CAT		galactosidase, beta 1 like 3							36.0	35.0	35.0					11																	134151966		2200	4293	6493	SO:0001583	missense	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134151966G>A		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.479G>A	11.37:g.134151966G>A	ENSP00000396615:p.Arg160His					GLB1L3_uc010scs.1_Missense_Mutation_p.R160H|GLB1L3_uc010sct.1_Missense_Mutation_p.R12H	p.R160H	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	5	839	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	160					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	37	c.479G>A	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835631	0.91117	.	.	ENSG00000166105	ENST00000389887;ENST00000431683	D;D	0.99663	-6.33;-6.33	4.3	3.36	0.38483	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.99785	0.9910	H	0.99286	4.5	0.51767	D	0.999938	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.97295	0.9927	9	0.87932	D	0	.	10.9043	0.47071	0.0:0.0:0.8111:0.1889	.	160;160	Q8NCI6-4;Q8NCI6	.;GLBL3_HUMAN	H	160	ENSP00000374537:R160H;ENSP00000396615:R160H	ENSP00000374537:R160H	R	+	2	0	GLB1L3	133657176	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.375000	0.90135	1.126000	0.42016	0.591000	0.81541	CGT		PASS	0.617	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		4	39	4	39	---	---	---	---
B3GAT1	27087	broad.mit.edu	37	11	134253718	134253718	+	Silent	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr11:134253718G>A	ENST00000524765.1	-	3	5021	c.477C>T	c.(475-477)cgC>cgT	p.R159R	B3GAT1_ENST00000537389.1_Silent_p.R172R|B3GAT1_ENST00000392580.1_Silent_p.R159R|B3GAT1_ENST00000312527.4_Silent_p.R159R|B3GAT1_ENST00000531510.1_5'Flank			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	159					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.R159R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		TGCGTGGGTCGCGGGCGTCTC	0.716																																						uc001qhq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(475-477)CGC>CGT		beta-1,3-glucuronyltransferase 1							29.0	26.0	27.0					11																	134253718		2181	4243	6424	SO:0001819	synonymous_variant	27087				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr11:134253718G>A	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"""CD molecules"", ""Beta-1,3-glucuronyltransferases"""	921	protein-coding gene	gene with protein product	"""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1"", ""glucuronosyltransferase P"""	151290	"""CD57 antigen"""	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.477C>T	11.37:g.134253718G>A						B3GAT1_uc001qhr.2_Silent_p.R159R|B3GAT1_uc010scv.1_Silent_p.R172R	p.R159R	NM_018644	NP_061114	Q9P2W7	B3GA1_HUMAN		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)	4	738	-	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)	159			Lumenal (Potential).		Q96FS7	Silent	SNP	ENST00000524765.1	37	c.477C>T	CCDS8500.1																																																																																				PASS	0.716	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644		6	14	6	14	---	---	---	---
CLEC12A	160364	broad.mit.edu	37	12	10134718	10134718	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr12:10134718T>A	ENST00000304361.4	+	5	813	c.631T>A	c.(631-633)Tcc>Acc	p.S211T	CLEC12A_ENST00000355690.4_Missense_Mutation_p.S221T|CLEC12A_ENST00000434319.2_Missense_Mutation_p.S211T|CLEC12A_ENST00000350667.4_Missense_Mutation_p.S178T	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	211	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.S221T(1)|p.S211T(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						TATAATCAACTCCTCTGCCTG	0.373																																					Melanoma(197;1487 2125 16611 22221 34855)	uc001qwr.3																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(631-633)TCC>ACC		myeloid inhibitory C-type lectin-like receptor							83.0	83.0	83.0					12																	10134718		2203	4299	6502	SO:0001583	missense	160364					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10134718T>A	AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"""C-type lectin domain containing"""	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.631T>A	12.37:g.10134718T>A	ENSP00000302804:p.Ser211Thr					CLEC12A_uc001qwq.2_Missense_Mutation_p.S221T|CLEC12A_uc001qws.3_Missense_Mutation_p.S178T|CLEC12A_uc001qwt.2_Missense_Mutation_p.S140T	p.S211T	NM_138337	NP_612210	Q5QGZ9	CL12A_HUMAN			5	819	+			211			Extracellular (Potential).|C-type lectin.		B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Missense_Mutation	SNP	ENST00000304361.4	37	c.631T>A	CCDS8608.1	.	.	.	.	.	.	.	.	.	.	T	12.96	2.094586	0.36952	.	.	ENSG00000172322	ENST00000355690;ENST00000304361;ENST00000434319;ENST00000350667	T;T;T;T	0.16743	2.32;2.32;3.86;2.32	4.03	2.89	0.33648	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.35422	0.0931	M	0.82323	2.585	0.09310	N	1	D;D;D	0.64830	0.993;0.994;0.993	D;D;D	0.66716	0.91;0.946;0.91	T	0.22417	-1.0217	9	0.14656	T	0.56	.	6.2377	0.20772	0.0:0.1127:0.0:0.8873	.	178;211;221	Q5QGZ9-4;Q5QGZ9;Q5QGZ9-1	.;CL12A_HUMAN;.	T	221;211;211;178	ENSP00000347916:S221T;ENSP00000302804:S211T;ENSP00000405244:S211T;ENSP00000345448:S178T	ENSP00000302804:S211T	S	+	1	0	CLEC12A	10025985	0.001000	0.12720	0.011000	0.14972	0.054000	0.15201	0.101000	0.15251	0.895000	0.36342	0.533000	0.62120	TCC		PASS	0.373	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399545.1	NM_138337		29	69	29	69	---	---	---	---
STYK1	55359	broad.mit.edu	37	12	10786680	10786680	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr12:10786680C>A	ENST00000075503.3	-	4	616	c.96G>T	c.(94-96)ttG>ttT	p.L32F		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.L32F(1)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						TAGTAACCAACAAAGTTGGGA	0.458										HNSCC(73;0.22)																												uc001qys.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						c.(94-96)TTG>TTT		serine/threonine/tyrosine kinase 1							206.0	197.0	200.0					12																	10786680		2203	4300	6503	SO:0001583	missense	55359					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr12:10786680C>A	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.96G>T	12.37:g.10786680C>A	ENSP00000075503:p.Leu32Phe	HNSCC(73;0.22)					p.L32F	NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN			4	617	-			32			Helical; (Potential).		B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	ENST00000075503.3	37	c.96G>T	CCDS8629.1	.	.	.	.	.	.	.	.	.	.	C	0.082	-1.182062	0.01633	.	.	ENSG00000060140	ENST00000075503;ENST00000542562;ENST00000538867;ENST00000535345;ENST00000541561	T;T;T	0.79653	-1.29;0.54;0.54	5.11	-2.98	0.05513	.	0.759371	0.12540	N	0.460005	T	0.61211	0.2329	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.42447	-0.9451	10	0.22109	T	0.4	-0.0113	1.5021	0.02479	0.3816:0.2384:0.2601:0.1199	.	32	Q6J9G0	STYK1_HUMAN	F	32	ENSP00000075503:L32F;ENSP00000446241:L32F;ENSP00000445391:L32F	ENSP00000075503:L32F	L	-	3	2	STYK1	10677947	0.873000	0.30073	0.002000	0.10522	0.005000	0.04900	-0.071000	0.11505	-0.862000	0.04089	-0.234000	0.12200	TTG		PASS	0.458	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		83	261	83	261	---	---	---	---
KIAA1467	57613	broad.mit.edu	37	12	13214673	13214673	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr12:13214673C>T	ENST00000197268.8	+	4	817	c.697C>T	c.(697-699)Ctc>Ttc	p.L233F		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	233						integral component of membrane (GO:0016021)		p.L233F(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		ACACAAGATGCTCAGCGCATT	0.463																																						uc001rbi.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(697-699)CTC>TTC		hypothetical protein LOC57613							86.0	73.0	77.0					12																	13214673		2203	4300	6503	SO:0001583	missense	57613					integral to membrane		g.chr12:13214673C>T	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.697C>T	12.37:g.13214673C>T	ENSP00000197268:p.Leu233Phe					KIAA1467_uc009zhx.1_RNA	p.L233F	NM_020853	NP_065904	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	4	720	+		Prostate(47;0.184)	233					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.697C>T	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	C	8.820	0.937311	0.18206	.	.	ENSG00000084444	ENST00000197268;ENST00000537625	T;T	0.52754	0.65;1.1	5.58	3.71	0.42584	Quinonprotein alcohol dehydrogenase-like (1);	0.465974	0.24657	N	0.036664	T	0.45236	0.1332	L	0.61036	1.89	0.39246	D	0.963943	B	0.09022	0.002	B	0.10450	0.005	T	0.42189	-0.9466	10	0.51188	T	0.08	-11.8917	11.6031	0.51015	0.0:0.857:0.0:0.143	.	233	A2RU67	K1467_HUMAN	F	233;9	ENSP00000197268:L233F;ENSP00000437974:L9F	ENSP00000197268:L233F	L	+	1	0	KIAA1467	13105940	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	1.118000	0.31246	0.666000	0.31087	0.650000	0.86243	CTC		PASS	0.463	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		22	65	22	65	---	---	---	---
KIF21A	55605	broad.mit.edu	37	12	39726780	39726780	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr12:39726780C>A	ENST00000361418.5	-	19	2632	c.2617G>T	c.(2617-2619)Gca>Tca	p.A873S	KIF21A_ENST00000544797.2_Missense_Mutation_p.A860S|KIF21A_ENST00000361961.3_Missense_Mutation_p.A860S|KIF21A_ENST00000541463.2_Missense_Mutation_p.A837S|KIF21A_ENST00000395670.3_Missense_Mutation_p.A873S			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	873					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A860S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GTCCTTGATGCATCTGTTTCG	0.502																																						uc001rly.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(2617-2619)GCA>TCA		kinesin family member 21A							80.0	77.0	78.0					12																	39726780		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39726780C>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2617G>T	12.37:g.39726780C>A	ENSP00000354878:p.Ala873Ser					KIF21A_uc001rlv.2_5'Flank|KIF21A_uc001rlw.2_Missense_Mutation_p.A190S|KIF21A_uc001rlx.2_Missense_Mutation_p.A860S|KIF21A_uc001rlz.2_Missense_Mutation_p.A837S|KIF21A_uc010skl.1_Missense_Mutation_p.A860S	p.A873S	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			19	2763	-		Lung NSC(34;0.179)|all_lung(34;0.213)	873					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.2617G>T	CCDS53776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.014|3.014	-0.203252|-0.203252	0.06180|0.06180	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463|ENST00000552961	T;T;T;T;T|.	0.69926|.	-0.38;-0.36;-0.39;-0.3;-0.44|.	5.45|5.45	-3.21|-3.21	0.05140|0.05140	.|.	1.125280|.	0.06833|.	N|.	0.794244|.	T|T	0.07863|0.07863	0.0197|0.0197	N|N	0.01705|0.01705	-0.755|-0.755	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B|.	0.08055|.	0.001;0.002;0.001;0.002;0.003|.	T|T	0.30966|0.30966	-0.9960|-0.9960	10|5	0.21540|.	T|.	0.41|.	.|.	1.373|1.373	0.02215|0.02215	0.1764:0.4017:0.1754:0.2465|0.1764:0.4017:0.1754:0.2465	.|.	860;837;873;860;873|.	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3|.	.;.;KI21A_HUMAN;.;.|.	S|I	860;873;873;860;873;837|220	ENSP00000354851:A860S;ENSP00000379029:A873S;ENSP00000445606:A860S;ENSP00000354878:A873S;ENSP00000438075:A837S|.	ENSP00000344501:A873S|.	A|M	-|-	1|3	0|0	KIF21A|KIF21A	38013047|38013047	0.176000|0.176000	0.23096|0.23096	0.000000|0.000000	0.03702|0.03702	0.797000|0.797000	0.45037|0.45037	0.316000|0.316000	0.19469|0.19469	-0.385000|-0.385000	0.07833|0.07833	0.460000|0.460000	0.39030|0.39030	GCA|ATG		PASS	0.502	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		66	136	66	136	---	---	---	---
SENP1	29843	broad.mit.edu	37	12	48482584	48482584	+	Splice_Site	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr12:48482584C>T	ENST00000004980.5	-	5	858	c.380G>A	c.(379-381)aGt>aAt	p.S127N	SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000549518.1_Splice_Site_p.S127N|SENP1_ENST00000549595.1_Splice_Site_p.S127N|SENP1_ENST00000551330.1_Splice_Site_p.S127N|SENP1_ENST00000448372.1_Splice_Site_p.S127N			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	127	Ser-rich.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)	p.S127N(1)		large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				AAATACGAACCTTGAGGTCTT	0.388																																						uc001rqx.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|lung(1)	3						c.(379-381)AGT>AAT		sentrin/SUMO-specific protease 1							117.0	103.0	107.0					12																	48482584		1830	4083	5913	SO:0001630	splice_region_variant	29843				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity	g.chr12:48482584C>T	AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.380+1G>A	12.37:g.48482584C>T						SENP1_uc001rqw.2_Missense_Mutation_p.S127N|SENP1_uc001rqy.2_Translation_Start_Site|SENP1_uc001rqz.2_Translation_Start_Site|SENP1_uc009zkx.2_Missense_Mutation_p.S127N	p.S127N	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN			5	826	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	127			Ser-rich.		A8K7P5|Q86XC8	Missense_Mutation	SNP	ENST00000004980.5	37	c.380G>A	CCDS44868.2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258062	0.80246	.	.	ENSG00000079387	ENST00000004980;ENST00000448372;ENST00000551330;ENST00000549595;ENST00000549518;ENST00000551798	T;T;T;T;T	0.23348	1.92;1.91;1.92;1.91;1.92	5.17	5.17	0.71159	.	0.240295	0.37012	N	0.002281	T	0.21427	0.0516	L	0.29908	0.895	0.80722	D	1	B;B	0.30281	0.18;0.275	B;B	0.27170	0.035;0.077	T	0.04320	-1.0960	10	0.66056	D	0.02	-2.2789	15.9521	0.79846	0.0:1.0:0.0:0.0	.	127;127	Q9P0U3;Q9P0U3-2	SENP1_HUMAN;.	N	127;127;127;127;127;120	ENSP00000004980:S127N;ENSP00000394791:S127N;ENSP00000446681:S127N;ENSP00000450076:S127N;ENSP00000447328:S127N	ENSP00000004980:S127N	S	-	2	0	SENP1	46768851	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	4.186000	0.58337	2.572000	0.86782	0.555000	0.69702	AGT		PASS	0.388	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1	NM_014554	Missense_Mutation	6	18	6	18	---	---	---	---
WNT10B	7480	broad.mit.edu	37	12	49359979	49359979	+	Missense_Mutation	SNP	G	G	C	rs368571284		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr12:49359979G>C	ENST00000301061.4	-	5	1417	c.1069C>G	c.(1069-1071)Cgg>Ggg	p.R357G	WNT10B_ENST00000403957.1_3'UTR|WNT10B_ENST00000407467.1_3'UTR	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	357					bone trabecula formation (GO:0060346)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to cAMP (GO:0071320)|cellular response to hydrostatic pressure (GO:0071464)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fungiform papilla development (GO:0061196)|G2/M transition of mitotic cell cycle (GO:0000086)|hematopoietic stem cell proliferation (GO:0071425)|lipid metabolic process (GO:0006629)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of anagen (GO:0051885)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of skeletal muscle tissue development (GO:0048641)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.R357G(1)		central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						CGTGTCTGCCGGAGCACGTTG	0.607																																						uc001rss.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|lung(3)	7						c.(1069-1071)CGG>GGG		wingless-type MMTV integration site family,							67.0	52.0	57.0					12																	49359979		2203	4300	6503	SO:0001583	missense	7480				axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr12:49359979G>C	X97057	CCDS8775.1	12q13	2009-01-02			ENSG00000169884	ENSG00000169884		"""Wingless-type MMTV integration sites"""	12775	protein-coding gene	gene with protein product		601906				9121776, 9284937, 18515319	Standard	NM_003394		Approved	WNT-12, SHFM6	uc001rss.3	O00744	OTTHUMG00000150734	ENST00000301061.4:c.1069C>G	12.37:g.49359979G>C	ENSP00000301061:p.Arg357Gly					WNT10B_uc001rst.2_3'UTR	p.R357G	NM_003394	NP_003385	O00744	WN10B_HUMAN			5	1415	-			357					B2R7A5|O00747|Q4VAJ4|Q4VAJ5|Q8WZ97	Missense_Mutation	SNP	ENST00000301061.4	37	c.1069C>G	CCDS8775.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485170	0.63962	.	.	ENSG00000169884	ENST00000301061	T	0.76316	-1.01	4.67	3.77	0.43336	.	0.153445	0.42821	D	0.000645	D	0.83271	0.5218	M	0.88570	2.965	0.80722	D	1	P	0.46512	0.879	P	0.49637	0.617	T	0.82810	-0.0273	10	0.40728	T	0.16	.	9.4025	0.38442	0.0:0.157:0.6805:0.1625	.	357	O00744	WN10B_HUMAN	G	357	ENSP00000301061:R357G	ENSP00000301061:R357G	R	-	1	2	WNT10B	47646246	0.103000	0.21917	0.999000	0.59377	0.920000	0.55202	1.903000	0.39858	1.084000	0.41184	-0.268000	0.10319	CGG		PASS	0.607	WNT10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319864.1	NM_003394		8	20	8	20	---	---	---	---
NR4A1	3164	broad.mit.edu	37	12	52449821	52449821	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr12:52449821T>A	ENST00000243050.1	+	4	1198	c.884T>A	c.(883-885)gTg>gAg	p.V295E	NR4A1_ENST00000394824.2_Missense_Mutation_p.V295E|NR4A1_ENST00000360284.3_Missense_Mutation_p.V308E|RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000545748.1_Missense_Mutation_p.V349E|NR4A1_ENST00000394825.1_Missense_Mutation_p.V295E|NR4A1_ENST00000550082.1_Missense_Mutation_p.V308E	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	295					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.V295E(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CAGCGCACAGTGCAGAAAAAC	0.612																																						uc001rzs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(883-885)GTG>GAG		nuclear receptor subfamily 4, group A, member 1							68.0	62.0	64.0					12																	52449821		2203	4300	6503	SO:0001583	missense	3164				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	g.chr12:52449821T>A	L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"""Nuclear hormone receptors"""	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.884T>A	12.37:g.52449821T>A	ENSP00000243050:p.Val295Glu					NR4A1_uc010sno.1_Missense_Mutation_p.V308E|NR4A1_uc001rzt.2_Missense_Mutation_p.V295E|NR4A1_uc009zmc.2_5'Flank	p.V295E	NM_002135	NP_002126	P22736	NR4A1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	4	1198	+			295			Nuclear receptor.		B4DML7|Q15627|Q53Y00|Q6IBU8	Missense_Mutation	SNP	ENST00000243050.1	37	c.884T>A	CCDS8818.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.3|23.3	4.402790|4.402790	0.83230|0.83230	.|.	.|.	ENSG00000123358|ENSG00000123358	ENST00000550763|ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000394824	T|D;D;D;D;D;D	0.64260|0.97529	-0.09|-4.42;-4.42;-4.42;-4.42;-4.42;-4.42	4.03|4.03	4.03|4.03	0.46877|0.46877	.|Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98658|0.98658	0.9550|0.9550	M|M	0.93939|0.93939	3.475|3.475	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.991;0.999	.|D;D	.|0.76575	.|0.936;0.988	D|D	0.99260|0.99260	1.0890|1.0890	7|10	0.44086|0.87932	T|D	0.13|0	.|.	12.897|12.897	0.58106|0.58106	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|308;295	.|B4DML7;P22736	.|.;NR4A1_HUMAN	S|E	111|308;349;308;295;295;295	ENSP00000449858:C111S|ENSP00000353427:V308E;ENSP00000440864:V349E;ENSP00000449539:V308E;ENSP00000243050:V295E;ENSP00000378302:V295E;ENSP00000378301:V295E	ENSP00000449858:C111S|ENSP00000243050:V295E	C|V	+|+	1|2	0|0	NR4A1|NR4A1	50736088|50736088	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.993000|0.993000	0.82548|0.82548	7.743000|7.743000	0.85020|0.85020	2.063000|2.063000	0.61619|0.61619	0.459000|0.459000	0.35465|0.35465	TGC|GTG		PASS	0.612	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2			13	72	13	72	---	---	---	---
ITGA7	3679	broad.mit.edu	37	12	56086982	56086982	+	Silent	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr12:56086982G>A	ENST00000555728.1	-	21	2815	c.2787C>T	c.(2785-2787)ggC>ggT	p.G929G	ITGA7_ENST00000452168.2_Silent_p.G792G|ITGA7_ENST00000553804.1_Silent_p.G889G|ITGA7_ENST00000347027.6_Silent_p.G879G|ITGA7_ENST00000394229.2_Silent_p.G885G|ITGA7_ENST00000257880.7_Silent_p.G929G|ITGA7_ENST00000257879.6_Silent_p.G885G|ITGA7_ENST00000394230.2_Silent_p.G889G			Q13683	ITA7_HUMAN	integrin, alpha 7	929					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)	p.G885G(2)|p.G889G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCCCCTGCCCGCCCTCCAGCT	0.602																																						uc001shh.2																			3	Substitution - coding silent(3)	p.G885G(1)	lung(2)|ovary(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(2665-2667)GGC>GGT		integrin alpha 7 isoform 1 precursor							57.0	59.0	58.0					12																	56086982		2203	4300	6503	SO:0001819	synonymous_variant	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56086982G>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.2787C>T	12.37:g.56086982G>A						ITGA7_uc001shg.2_Silent_p.G885G|ITGA7_uc010sps.1_Silent_p.G792G|ITGA7_uc009znw.2_Silent_p.G132G|ITGA7_uc009znx.2_Silent_p.G766G	p.G889G	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN			20	2887	-			929			Extracellular (Potential).		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	ENST00000555728.1	37	c.2667C>T																																																																																					PASS	0.602	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		18	105	18	105	---	---	---	---
TRHDE	29953	broad.mit.edu	37	12	72969157	72969157	+	Missense_Mutation	SNP	C	C	T	rs138433001	byFrequency	TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr12:72969157C>T	ENST00000261180.4	+	11	2215	c.2119C>T	c.(2119-2121)Cgg>Tgg	p.R707W	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	707					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R707W(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TCAATTAATCCGGAATCATGA	0.343																																						uc001sxa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2119-2121)CGG>TGG		thyrotropin-releasing hormone degrading enzyme		C	TRP/ARG	0,4406		0,0,2203	98.0	97.0	97.0		2119	3.0	1.0	12	dbSNP_134	97	3,8597	3.0+/-9.4	0,3,4297	no	missense	TRHDE	NM_013381.2	101	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	707/1025	72969157	3,13003	2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72969157C>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2119C>T	12.37:g.72969157C>T	ENSP00000261180:p.Arg707Trp						p.R707W	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			11	2149	+			707			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2119C>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992886	0.54041	0.0	3.49E-4	ENSG00000072657	ENST00000261180	T	0.03496	3.91	5.52	3.0	0.34707	.	0.149026	0.64402	D	0.000011	T	0.11324	0.0276	L	0.52573	1.65	0.53688	D	0.999974	D	0.76494	0.999	D	0.63793	0.918	T	0.01688	-1.1295	10	0.72032	D	0.01	.	12.9458	0.58371	0.7439:0.2561:0.0:0.0	.	707	Q9UKU6	TRHDE_HUMAN	W	707	ENSP00000261180:R707W	ENSP00000261180:R707W	R	+	1	2	TRHDE	71255424	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	2.731000	0.47343	1.032000	0.39892	-0.402000	0.06365	CGG		PASS	0.343	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		14	161	14	161	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78515767	78515767	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr12:78515767C>A	ENST00000397909.2	+	16	3970	c.3797C>A	c.(3796-3798)aCt>aAt	p.T1266N	NAV3_ENST00000536525.2_Missense_Mutation_p.T1266N|NAV3_ENST00000228327.6_Missense_Mutation_p.T1266N|NAV3_ENST00000266692.7_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1266	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.T1266N(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCACCTAATACTGAGGGTGTG	0.498										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(3796-3798)ACT>AAT		neuron navigator 3							53.0	51.0	52.0					12																	78515767		2013	4191	6204	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78515767C>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3797C>A	12.37:g.78515767C>A	ENSP00000381007:p.Thr1266Asn	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.T1266N|NAV3_uc010sub.1_Missense_Mutation_p.T766N|NAV3_uc009zsf.2_Intron	p.T1266N	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			16	3970	+			1266			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.3797C>A		.	.	.	.	.	.	.	.	.	.	C	14.56	2.570432	0.45798	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327	T;T;T	0.26518	1.73;1.74;1.74	6.06	6.06	0.98353	.	0.183377	0.25154	U	0.032736	T	0.25121	0.0610	L	0.34521	1.04	0.80722	D	1	B;B;B	0.30021	0.167;0.265;0.078	B;B;B	0.27380	0.044;0.05;0.079	T	0.01940	-1.1243	10	0.46703	T	0.11	-21.2772	20.6282	0.99521	0.0:1.0:0.0:0.0	.	1266;1266;1266	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	N	1266	ENSP00000446132:T1266N;ENSP00000381007:T1266N;ENSP00000228327:T1266N	ENSP00000228327:T1266N	T	+	2	0	NAV3	77039898	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.784000	0.68990	2.871000	0.98454	0.655000	0.94253	ACT		PASS	0.498	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		38	47	38	47	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78534061	78534061	+	Splice_Site	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr12:78534061G>T	ENST00000397909.2	+	20	4803		c.e20-1		NAV3_ENST00000536525.2_Splice_Site|NAV3_ENST00000228327.6_Splice_Site|NAV3_ENST00000266692.7_Splice_Site			Q8IVL0	NAV3_HUMAN	neuron navigator 3							membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.?(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GTTTTCTCCAGTTCATGGCTC	0.373										HNSCC(70;0.22)																												uc001syp.2																			1	Unknown(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.e20-1		neuron navigator 3							256.0	224.0	234.0					12																	78534061		1847	4089	5936	SO:0001630	splice_region_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78534061G>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4631-1G>T	12.37:g.78534061G>T		HNSCC(70;0.22)				NAV3_uc001syo.2_Splice_Site_p.V1544_splice|NAV3_uc010sub.1_Splice_Site_p.V1030_splice|NAV3_uc009zsf.2_Splice_Site_p.V375_splice	p.V1544_splice	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			20	4804	+								Q8NFW7|Q9Y2E7	Splice_Site	SNP	ENST00000397909.2	37	c.4631_splice		.	.	.	.	.	.	.	.	.	.	G	24.7	4.565640	0.86439	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000552895;ENST00000550788	.	.	.	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NAV3	77058192	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	9.126000	0.94411	2.878000	0.98634	0.650000	0.86243	.		PASS	0.373	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	Intron	71	99	71	99	---	---	---	---
ATP2B1	490	broad.mit.edu	37	12	90004201	90004201	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr12:90004201T>C	ENST00000428670.3	-	14	2788	c.2332A>G	c.(2332-2334)Aaa>Gaa	p.K778E	ATP2B1_ENST00000348959.3_Missense_Mutation_p.K778E|ATP2B1_ENST00000359142.3_Missense_Mutation_p.K778E|ATP2B1_ENST00000393164.2_Missense_Mutation_p.K521E|ATP2B1_ENST00000261173.2_Missense_Mutation_p.K778E			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	778					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.K778E(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TACTTACCTTTAACCAGTGTA	0.333																																						uc001tbh.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(2332-2334)AAA>GAA		plasma membrane calcium ATPase 1 isoform 1b							152.0	145.0	147.0					12																	90004201		2203	4300	6503	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:90004201T>C	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.2332A>G	12.37:g.90004201T>C	ENSP00000392043:p.Lys778Glu					ATP2B1_uc001tbg.2_Missense_Mutation_p.K778E|ATP2B1_uc001tbf.2_Missense_Mutation_p.K448E	p.K778E	NM_001682	NP_001673	P20020	AT2B1_HUMAN			13	2513	-			778			Cytoplasmic (Potential).		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.2332A>G	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.284246	0.80803	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.95788	-3.81;-3.81;-3.81;-3.81;-3.81	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.94427	0.8207	L	0.52759	1.655	0.80722	D	1	P;P;P	0.45126	0.649;0.467;0.851	B;B;B	0.44278	0.183;0.345;0.445	D	0.95019	0.8159	10	0.87932	D	0	.	16.1718	0.81822	0.0:0.0:0.0:1.0	.	778;778;778	P20020-3;P20020-2;P20020-6	.;.;.	E	778;778;778;778;521	ENSP00000261173:K778E;ENSP00000343599:K778E;ENSP00000352054:K778E;ENSP00000392043:K778E;ENSP00000376869:K521E	ENSP00000261173:K778E	K	-	1	0	ATP2B1	88528332	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.036000	0.88901	2.267000	0.75376	0.528000	0.53228	AAA		PASS	0.333	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		115	122	115	122	---	---	---	---
POLR3B	55703	broad.mit.edu	37	12	106772055	106772055	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr12:106772055C>A	ENST00000228347.4	+	8	729	c.507C>A	c.(505-507)ttC>ttA	p.F169L	POLR3B_ENST00000539066.1_Missense_Mutation_p.F111L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	169					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.F169L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GTGGCTACTTCATTGTTAAAG	0.398																																						uc001tlp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(505-507)TTC>TTA		DNA-directed RNA polymerase III B isoform 1							114.0	113.0	113.0					12																	106772055		2203	4300	6503	SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106772055C>A	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.507C>A	12.37:g.106772055C>A	ENSP00000228347:p.Phe169Leu					POLR3B_uc001tlq.2_Missense_Mutation_p.F111L	p.F169L	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN			8	729	+			169					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.507C>A	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360363	0.82353	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066	D;D	0.86432	-2.12;-2.12	5.73	4.83	0.62350	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.95934	0.8676	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97015	0.9739	10	0.87932	D	0	-22.206	14.8089	0.69979	0.0:0.9288:0.0:0.0712	.	169	Q9NW08	RPC2_HUMAN	L	169;169;111	ENSP00000228347:F169L;ENSP00000445721:F111L	ENSP00000228347:F169L	F	+	3	2	POLR3B	105296185	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.618000	0.46393	2.704000	0.92352	0.650000	0.86243	TTC		PASS	0.398	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		54	70	54	70	---	---	---	---
CCDC64	92558	broad.mit.edu	37	12	120510336	120510336	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr12:120510336G>T	ENST00000397558.2	+	6	1111	c.1111G>T	c.(1111-1113)Gcc>Tcc	p.A371S	CCDC64_ENST00000257583.4_Missense_Mutation_p.A20S|CCDC64_ENST00000446727.2_Intron	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	371					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)	p.A371S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTCTGGGAAGCCTACTGCCA	0.512																																						uc001txl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1111-1113)GCC>TCC		coiled-coil domain containing 64							77.0	77.0	77.0					12																	120510336		2060	4213	6273	SO:0001583	missense	92558				Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding	g.chr12:120510336G>T	U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.1111G>T	12.37:g.120510336G>T	ENSP00000380690:p.Ala371Ser					CCDC64_uc001txk.2_Missense_Mutation_p.A371S|CCDC64_uc009zwv.1_Intron|CCDC64_uc010sze.1_Intron|CCDC64_uc010szf.1_Missense_Mutation_p.A20S	p.A371S	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN			6	1136	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		371			Potential.		A8MUC8|B4DWL0|B5MDJ0|O95000	Missense_Mutation	SNP	ENST00000397558.2	37	c.1111G>T	CCDS41845.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096366	0.76870	.	.	ENSG00000135127	ENST00000357093;ENST00000397558;ENST00000548673;ENST00000257583	T;T	0.04862	3.54;3.54	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.20780	0.0500	L	0.42686	1.345	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.83275	0.99;0.996	T	0.00149	-1.1987	10	0.66056	D	0.02	-6.3474	19.448	0.94855	0.0:0.0:1.0:0.0	.	20;371	B4DWL0;Q6ZP65	.;BICR1_HUMAN	S	352;371;41;20	ENSP00000380690:A371S;ENSP00000447477:A41S	ENSP00000257583:A20S	A	+	1	0	CCDC64	118994719	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.617000	0.88574	0.655000	0.94253	GCC		PASS	0.512	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311		60	70	60	70	---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39448660	39448660	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr13:39448660C>T	ENST00000280481.7	+	18	8434	c.8218C>T	c.(8218-8220)Cgc>Tgc	p.R2740C		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2740					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R2740C(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGATGAGGGGCGCTTGGCCGT	0.488																																						uc001uwv.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(8218-8220)CGC>TGC		FRAS1-related extracellular matrix protein 2							192.0	168.0	176.0					13																	39448660		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39448660C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8218C>T	13.37:g.39448660C>T	ENSP00000280481:p.Arg2740Cys						p.R2740C	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	18	8527	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2740			Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.8218C>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555946	0.65425	.	.	ENSG00000150893	ENST00000280481	T	0.27402	1.67	5.43	5.43	0.79202	.	0.059120	0.64402	D	0.000002	T	0.42585	0.1209	M	0.88105	2.93	0.80722	D	1	B	0.26147	0.143	B	0.19946	0.027	T	0.46541	-0.9184	10	0.59425	D	0.04	.	14.9267	0.70884	0.1436:0.8564:0.0:0.0	.	2740	Q5SZK8	FREM2_HUMAN	C	2740	ENSP00000280481:R2740C	ENSP00000280481:R2740C	R	+	1	0	FREM2	38346660	1.000000	0.71417	0.981000	0.43875	0.916000	0.54674	4.793000	0.62474	2.548000	0.85928	0.655000	0.94253	CGC		PASS	0.488	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		6	151	6	151	---	---	---	---
CLN5	1203	broad.mit.edu	37	13	77569277	77569277	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr13:77569277G>T	ENST00000377453.3	+	2	1692	c.400G>T	c.(400-402)Gtt>Ttt	p.V134F	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	85					brain development (GO:0007420)|cell death (GO:0008219)|glycosylation (GO:0070085)|lysosomal lumen acidification (GO:0007042)|neurogenesis (GO:0022008)|neuron maturation (GO:0042551)|protein catabolic process (GO:0030163)|signal peptide processing (GO:0006465)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|vacuolar lumen (GO:0005775)	mannose binding (GO:0005537)	p.V134F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		ACCTATCCCAGTTATGGAGGG	0.418																																						uc001vkc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(400-402)GTT>TTT		ceroid-lipofuscinosis, neuronal 5							156.0	154.0	155.0					13																	77569277		2203	4300	6503	SO:0001583	missense	1203				brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr13:77569277G>T		CCDS9456.1	13q21.2-q32	2014-09-17			ENSG00000102805	ENSG00000102805			2076	protein-coding gene	gene with protein product		608102				7942847, 8661106	Standard	NM_006493		Approved		uc001vkc.3	O75503	OTTHUMG00000017100	ENST00000377453.3:c.400G>T	13.37:g.77569277G>T	ENSP00000366673:p.Val134Phe						p.V134F	NM_006493	NP_006484	O75503	CLN5_HUMAN		GBM - Glioblastoma multiforme(99;0.0503)	2	428	+		Acute lymphoblastic leukemia(28;0.205)	85					B3KQK7	Missense_Mutation	SNP	ENST00000377453.3	37	c.400G>T	CCDS9456.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043928	0.36085	.	.	ENSG00000102805	ENST00000377453;ENST00000541907	D	0.91011	-2.77	5.84	1.96	0.26148	.	0.522626	0.20837	N	0.084777	D	0.88074	0.6339	M	0.64997	1.995	0.80722	D	1	P	0.45078	0.85	B	0.43575	0.424	D	0.85158	0.0990	10	0.45353	T	0.12	-9.021	8.7958	0.34878	0.1299:0.3428:0.5273:0.0	.	85	O75503	CLN5_HUMAN	F	134;85	ENSP00000366673:V134F	ENSP00000366673:V134F	V	+	1	0	CLN5	76467278	0.000000	0.05858	0.984000	0.44739	0.724000	0.41520	-0.500000	0.06405	0.793000	0.33875	0.655000	0.94253	GTT		PASS	0.418	CLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045318.1	NM_006493		117	104	117	104	---	---	---	---
SLITRK1	114798	broad.mit.edu	37	13	84454197	84454197	+	Silent	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr13:84454197C>A	ENST00000377084.2	-	1	2331	c.1446G>T	c.(1444-1446)ctG>ctT	p.L482L		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	482					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.L482L(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGGACCTCAGCAGGTTGTTGT	0.547																																						uc001vlk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1444-1446)CTG>CTT		slit and trk like 1 protein precursor							61.0	59.0	60.0					13																	84454197		2203	4300	6503	SO:0001819	synonymous_variant	114798					integral to membrane		g.chr13:84454197C>A	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1446G>T	13.37:g.84454197C>A							p.L482L	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	2332	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	482			Extracellular (Potential).|LRR 11.		Q5U5I6|Q96SF9	Silent	SNP	ENST00000377084.2	37	c.1446G>T	CCDS9464.1																																																																																				PASS	0.547	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		45	34	45	34	---	---	---	---
CLDN10	9071	broad.mit.edu	37	13	96086249	96086249	+	Missense_Mutation	SNP	C	C	G	rs555827487		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr13:96086249C>G	ENST00000376873.3	+	1	392	c.162C>G	c.(160-162)aaC>aaG	p.N54K		NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	claudin 10	56					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|ion transport (GO:0006811)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.N54K(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			GCGCAGGTAACGCGTTGGGTT	0.488																																						uc001vmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(160-162)AAC>AAG		claudin 10 isoform a							135.0	127.0	130.0					13																	96086249		2203	4300	6503	SO:0001583	missense	9071				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr13:96086249C>G	U89916	CCDS9475.1, CCDS9476.1	13q31-q34	2008-07-18			ENSG00000134873	ENSG00000134873		"""Claudins"""	2033	protein-coding gene	gene with protein product						18025272	Standard	NM_182848		Approved	OSP-L, CPETRL3	uc001vmh.2	P78369	OTTHUMG00000017217	ENST00000376873.3:c.162C>G	13.37:g.96086249C>G	ENSP00000366069:p.Asn54Lys					CLDN10_uc010tii.1_Intron	p.N54K	NM_182848	NP_878268	P78369	CLD10_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.18)		1	397	+	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q6IBF9|Q96N78	Missense_Mutation	SNP	ENST00000376873.3	37	c.162C>G	CCDS9475.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.756017	0.69648	.	.	ENSG00000134873	ENST00000376873	D	0.88509	-2.39	5.24	4.15	0.48705	.	.	.	.	.	D	0.89784	0.6815	.	.	.	0.80722	D	1	P	0.46512	0.879	P	0.53593	0.73	D	0.88773	0.3265	8	0.54805	T	0.06	.	7.3249	0.26549	0.0:0.7826:0.0:0.2174	.	54	Q96N78	.	K	54	ENSP00000366069:N54K	ENSP00000366069:N54K	N	+	3	2	CLDN10	94884250	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.603000	0.24149	2.602000	0.87976	0.563000	0.77884	AAC		PASS	0.488	CLDN10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045483.3	NM_006984		69	58	69	58	---	---	---	---
COL4A2	1284	broad.mit.edu	37	13	111155574	111155574	+	Silent	SNP	C	C	T	rs538131418	byFrequency	TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr13:111155574C>T	ENST00000360467.5	+	42	4290	c.3984C>T	c.(3982-3984)gcC>gcT	p.A1328A	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1328	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.A1328A(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AAGGATGGGCCGGGGACTCCG	0.647													C|||	4	0.000798722	0.0	0.0	5008	,	,		16585	0.0		0.0	False		,,,				2504	0.0041					uc001vqx.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|central_nervous_system(2)|ovary(1)	6						c.(3982-3984)GCC>GCT		alpha 2 type IV collagen preproprotein							33.0	39.0	37.0					13																	111155574		1859	4080	5939	SO:0001819	synonymous_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111155574C>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.3984C>T	13.37:g.111155574C>T							p.A1328A	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		42	4273	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	1328			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	c.3984C>T	CCDS41907.1																																																																																				PASS	0.647	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		88	43	88	43	---	---	---	---
SLC22A17	51310	broad.mit.edu	37	14	23817725	23817725	+	Silent	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr14:23817725G>A	ENST00000206544.8	-	4	1018	c.682C>T	c.(682-684)Ctg>Ttg	p.L228L	SLC22A17_ENST00000397267.1_Silent_p.L228L|SLC22A17_ENST00000397260.3_Silent_p.L117L|SLC22A17_ENST00000354772.3_Silent_p.L228L|SLC22A17_ENST00000474057.1_5'UTR	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	228					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)	p.L228L(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CCATAAAACAGGAAGAGGATG	0.562																																						uc001wjl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(682-684)CTG>TTG		solute carrier family 22, member 17 isoform a							134.0	111.0	119.0					14																	23817725		2203	4300	6503	SO:0001819	synonymous_variant	51310				siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity	g.chr14:23817725G>A	AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"""Solute carriers"""	23095	protein-coding gene	gene with protein product	"""neutrophil gelatinase-associated lipocalin receptor"""	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.682C>T	14.37:g.23817725G>A						SLC22A17_uc010akk.2_Silent_p.L10L|SLC22A17_uc001wjn.2_RNA|SLC22A17_uc001wjm.2_Silent_p.L228L	p.L228L	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	4	738	-	all_cancers(95;7.12e-06)		228			Helical; (Potential).		A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Silent	SNP	ENST00000206544.8	37	c.682C>T	CCDS9593.1																																																																																				PASS	0.562	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	NM_020372		100	124	100	124	---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23858820	23858820	+	Nonsense_Mutation	SNP	T	T	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr14:23858820T>A	ENST00000356287.3	-	26	3870	c.3841A>T	c.(3841-3843)Aag>Tag	p.K1281*	MYH6_ENST00000405093.3_Nonsense_Mutation_p.K1281*|MIR208A_ENST00000362287.1_RNA			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1281					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.K1281*(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GTCTGCAGCTTGGCTCGCTGG	0.587																																						uc001wjv.2																			1	Substitution - Nonsense(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(3841-3843)AAG>TAG		myosin heavy chain 6							106.0	88.0	94.0					14																	23858820		2203	4300	6503	SO:0001587	stop_gained	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23858820T>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.3841A>T	14.37:g.23858820T>A	ENSP00000348634:p.Lys1281*					uc010tnn.1_5'Flank|MIR208A_hsa-mir-208a|MI0000251_5'Flank	p.K1281*	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	27	3908	-	all_cancers(95;2.54e-05)		1281			Potential.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Nonsense_Mutation	SNP	ENST00000356287.3	37	c.3841A>T	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	t	43	10.371998	0.99393	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	.	.	.	4.82	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	11.9142	0.52755	0.0:0.0:0.1451:0.8549	.	.	.	.	X	1281	.	ENSP00000348634:K1281X	K	-	1	0	MYH6	22928660	0.146000	0.22672	1.000000	0.80357	0.871000	0.50021	1.780000	0.38634	1.932000	0.55993	0.459000	0.35465	AAG		PASS	0.587	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			59	98	59	98	---	---	---	---
PRKD1	5587	broad.mit.edu	37	14	30093429	30093429	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr14:30093429T>C	ENST00000331968.5	-	13	2063	c.1834A>G	c.(1834-1836)Aaa>Gaa	p.K612E	PRKD1_ENST00000415220.2_Missense_Mutation_p.K620E	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	612	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.K612E(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCAATGATTTTAATAGCTACA	0.318																																						uc001wqh.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(1834-1836)AAA>GAA		protein kinase D1							148.0	137.0	141.0					14																	30093429		2201	4298	6499	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30093429T>C		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1834A>G	14.37:g.30093429T>C	ENSP00000333568:p.Lys612Glu						p.K612E	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	13	2015	-	Hepatocellular(127;0.0604)		612	K->W: Loss of kinase activity.		Protein kinase.	ATP.	A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.1834A>G	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.941183	0.92526	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	D;D	0.96200	-3.94;-3.94	5.79	5.79	0.91817	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98801	0.9596	H	0.99011	4.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99572	1.0971	10	0.87932	D	0	-26.5224	16.1267	0.81400	0.0:0.0:0.0:1.0	.	612	Q15139	KPCD1_HUMAN	E	612;620	ENSP00000333568:K612E;ENSP00000390535:K620E	ENSP00000333568:K612E	K	-	1	0	PRKD1	29163180	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.923000	0.87546	2.205000	0.71048	0.455000	0.32223	AAA		PASS	0.318	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		4	252	4	252	---	---	---	---
FSCB	84075	broad.mit.edu	37	14	44976161	44976161	+	Silent	SNP	T	T	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr14:44976161T>C	ENST00000340446.4	-	1	321	c.30A>G	c.(28-30)gtA>gtG	p.V10V	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	10						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.V10V(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTTTCTCTATTACATCAGTTT	0.438																																						uc001wvn.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(28-30)GTA>GTG		fibrous sheath CABYR binding protein							274.0	258.0	263.0					14																	44976161		2203	4300	6503	SO:0001819	synonymous_variant	84075					cilium		g.chr14:44976161T>C	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.30A>G	14.37:g.44976161T>C							p.V10V	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	339	-			10					Q5H9U7|Q86YI2|Q9H0J3	Silent	SNP	ENST00000340446.4	37	c.30A>G	CCDS9679.1																																																																																				PASS	0.438	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		176	383	176	383	---	---	---	---
KLHL28	54813	broad.mit.edu	37	14	45400680	45400680	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr14:45400680T>C	ENST00000396128.4	-	4	1527	c.1408A>G	c.(1408-1410)Att>Gtt	p.I470V	KLHL28_ENST00000355081.2_Missense_Mutation_p.I484V	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	470								p.I470V(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCAAAGTGAATCCTTTTATCT	0.403																																						uc001wvq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1408-1410)ATT>GTT		BTB (POZ) domain containing 5							103.0	100.0	101.0					14																	45400680		2203	4300	6503	SO:0001583	missense	54813							g.chr14:45400680T>C	AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"""Kelch-like"", ""BTB/POZ domain containing"""	19741	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 5"", ""kelch-like 28 (Drosophila)"""	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.1408A>G	14.37:g.45400680T>C	ENSP00000379434:p.Ile470Val					KLHL28_uc001wvr.2_Missense_Mutation_p.I470V	p.I470V	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN			4	1654	-			470			Kelch 4.		Q0VAL5	Missense_Mutation	SNP	ENST00000396128.4	37	c.1408A>G	CCDS9680.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.048180	0.55110	.	.	ENSG00000179454	ENST00000396128;ENST00000355081	T;T	0.76578	-1.03;-1.03	4.72	4.72	0.59763	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.77864	0.4194	N	0.13235	0.315	0.58432	D	0.999997	D	0.63046	0.992	D	0.79108	0.992	T	0.78945	-0.2004	10	0.38643	T	0.18	.	14.1529	0.65398	0.0:0.0:0.0:1.0	.	470	Q9NXS3	KLH28_HUMAN	V	470;484	ENSP00000379434:I470V;ENSP00000347193:I484V	ENSP00000347193:I484V	I	-	1	0	KLHL28	44470430	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.620000	0.83070	1.881000	0.54492	0.460000	0.39030	ATT		PASS	0.403	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276790.3			46	80	46	80	---	---	---	---
PTGDR	5729	broad.mit.edu	37	14	52735195	52735195	+	Silent	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr14:52735195C>T	ENST00000306051.2	+	1	765	c.663C>T	c.(661-663)gcC>gcT	p.A221A	PTGDR_ENST00000553372.1_Silent_p.A221A	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	221					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)	p.A221A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	ACCTCGGCGCCATGCGCAACC	0.701																																						uc001wzq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(661-663)GCC>GCT		prostaglandin D2 receptor	Nedocromil(DB00716)						63.0	52.0	56.0					14																	52735195		2203	4300	6503	SO:0001819	synonymous_variant	5729					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	g.chr14:52735195C>T	U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"""GPCR / Class A : Prostanoid receptors"""	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.663C>T	14.37:g.52735195C>T							p.A221A	NM_000953	NP_000944	Q13258	PD2R_HUMAN			1	765	+	Breast(41;0.0639)|all_epithelial(31;0.0887)		221			Cytoplasmic (Potential).		G3V5L3|Q13250|Q13251|Q1ZZ52	Silent	SNP	ENST00000306051.2	37	c.663C>T	CCDS9707.1																																																																																				PASS	0.701	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1	NM_000953		22	63	22	63	---	---	---	---
PELI2	57161	broad.mit.edu	37	14	56746496	56746496	+	Splice_Site	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr14:56746496G>T	ENST00000267460.4	+	3	595		c.e3+1			NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2						innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cytosol (GO:0005829)	ligase activity (GO:0016874)	p.?(1)		kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						TATGTTTCAGGTAATATTTTT	0.358																																						uc001xch.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e3+1		pellino 2							111.0	113.0	112.0					14																	56746496		2203	4300	6503	SO:0001630	splice_region_variant	57161				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding	g.chr14:56746496G>T	AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"""Pellino homologs"""	8828	protein-coding gene	gene with protein product		614798	"""pellino (Drosophila) homolog 2"", ""pellino homolog 2 (Drosophila)"""			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.309+1G>T	14.37:g.56746496G>T							p.Q103_splice	NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN			3	595	+								B2RDY5	Splice_Site	SNP	ENST00000267460.4	37	c.309_splice	CCDS9726.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542855	0.86022	.	.	ENSG00000139946	ENST00000267460	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5132	0.90925	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PELI2	55816249	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.601000	0.98297	2.673000	0.90976	0.557000	0.71058	.		PASS	0.358	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1		Intron	69	132	69	132	---	---	---	---
FUT8	2530	broad.mit.edu	37	14	66096258	66096258	+	Silent	SNP	T	T	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr14:66096258T>A	ENST00000360689.5	+	6	2258	c.531T>A	c.(529-531)ggT>ggA	p.G177G	FUT8_ENST00000394586.2_Silent_p.G177G|FUT8_ENST00000557164.1_Silent_p.G14G|FUT8_ENST00000358307.2_Silent_p.G48G|FUT8_ENST00000394585.1_Silent_p.G177G	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	177					cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)	p.G177G(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		ATGGAGCAGGTGATTGGCGGG	0.418																																						uc001xin.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(529-531)GGT>GGA		fucosyltransferase 8 isoform a							144.0	137.0	139.0					14																	66096258		2203	4300	6503	SO:0001819	synonymous_variant	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66096258T>A	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.531T>A	14.37:g.66096258T>A						FUT8_uc001xio.2_Silent_p.G177G|FUT8_uc010tsp.1_Silent_p.G14G|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Silent_p.G177G|FUT8_uc001xiq.2_Silent_p.G48G	p.G177G	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	6	1728	+			177			Lumenal (Potential).		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Silent	SNP	ENST00000360689.5	37	c.531T>A	CCDS9775.1																																																																																				PASS	0.418	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		59	185	59	185	---	---	---	---
ZFYVE26	23503	broad.mit.edu	37	14	68234442	68234442	+	Silent	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr14:68234442C>A	ENST00000347230.4	-	31	5907	c.5769G>T	c.(5767-5769)cgG>cgT	p.R1923R	ZFYVE26_ENST00000555452.1_Silent_p.R1923R	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1923					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.R1923R(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AAAATTCACTCCGCACCAGCT	0.413																																						uc001xka.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|breast(2)	11						c.(5767-5769)CGG>CGT		zinc finger, FYVE domain containing 26							172.0	157.0	162.0					14																	68234442		2203	4300	6503	SO:0001819	synonymous_variant	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68234442C>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.5769G>T	14.37:g.68234442C>A						ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Silent_p.R1923R	p.R1923R	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	31	5908	-			1923					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	c.5769G>T	CCDS9788.1																																																																																				PASS	0.413	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		69	180	69	180	---	---	---	---
ADAM21	8747	broad.mit.edu	37	14	70925511	70925511	+	Missense_Mutation	SNP	C	C	T	rs192946121		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr14:70925511C>T	ENST00000603540.1	+	2	1553	c.1295C>T	c.(1294-1296)gCc>gTc	p.A432V	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.A432V	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	432	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A432V(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GAACAAGACGCCTGTTGTCTG	0.498													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22600	0.0		0.0	False		,,,				2504	0.0					uc001xmd.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(1294-1296)GCC>GTC		ADAM metallopeptidase domain 21 preproprotein							77.0	74.0	75.0					14																	70925511		2203	4300	6503	SO:0001583	missense	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70925511C>T	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1295C>T	14.37:g.70925511C>T	ENSP00000474385:p.Ala432Val						p.A432V	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	1	1295	+			432			Disintegrin.|Extracellular (Potential).		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	c.1295C>T	CCDS9804.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.86	2.064748	0.36470	.	.	ENSG00000139985	ENST00000267499	T	0.11169	2.8	4.48	4.48	0.54585	Blood coagulation inhibitor, Disintegrin (5);	0.157294	0.29286	N	0.012600	T	0.11537	0.0281	L	0.38953	1.18	0.31614	N	0.6511	B	0.22346	0.068	B	0.25759	0.063	T	0.03403	-1.1040	10	0.49607	T	0.09	.	15.8739	0.79145	0.0:1.0:0.0:0.0	.	432	Q9UKJ8	ADA21_HUMAN	V	432	ENSP00000267499:A432V	ENSP00000267499:A432V	A	+	2	0	ADAM21	69995264	0.003000	0.15002	1.000000	0.80357	0.322000	0.28314	0.698000	0.25571	2.480000	0.83734	0.557000	0.71058	GCC		PASS	0.498	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			47	135	47	135	---	---	---	---
DIO2	1734	broad.mit.edu	37	14	80669428	80669428	+	Splice_Site	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr14:80669428G>T	ENST00000557125.1	-	2	49	c.50C>A	c.(49-51)cCt>cAt	p.P17H	DIO2_ENST00000438257.4_Silent_p.A142A|DIO2_ENST00000555750.1_Silent_p.A178A|DIO2_ENST00000557010.1_Silent_p.A142A|DIO2_ENST00000422005.3_3'UTR			Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	0					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)	p.A178A(1)|p.A142A(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		GTTTGCGGAAGGCTGGCAGCT	0.572											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010tvq.1																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(424-426)GCC>GCA		deiodinase, iodothyronine, type II isoform a							51.0	56.0	54.0					14																	80669428		2084	4231	6315	SO:0001630	splice_region_variant	1734				hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	g.chr14:80669428G>T	AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"""thyroxine deiodinase, type II"", ""deiodonase-2"", ""deiodinase-2"""	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557125.1:c.49-1C>A	14.37:g.80669428G>T			OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1200	DIO2_uc010tvp.1_Silent_p.A178A|DIO2_uc001xut.2_RNA|DIO2_uc010asx.2_3'UTR|DIO2_uc010tvr.1_Silent_p.A142A|DIO2_uc010asy.2_3'UTR	p.A142A	NM_000793	NP_000784	Q92813	IOD2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0281)	4	828	-			142					B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Silent	SNP	ENST00000557125.1	37	c.426C>A		.	.	.	.	.	.	.	.	.	.	G	10.11	1.260396	0.23051	.	.	ENSG00000211448	ENST00000557125	.	.	.	5.67	4.78	0.61160	.	.	.	.	.	T	0.70657	0.3249	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70040	-0.4981	4	.	.	.	.	14.7288	0.69365	0.0698:0.0:0.9302:0.0	.	.	.	.	H	17	.	.	P	-	2	0	DIO2	79739181	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.110000	0.50352	1.398000	0.46701	0.585000	0.79938	CCT		PASS	0.572	DIO2-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000413753.1		Missense_Mutation	14	47	14	47	---	---	---	---
GALC	2581	broad.mit.edu	37	14	88452846	88452846	+	Silent	SNP	A	A	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr14:88452846A>G	ENST00000261304.2	-	4	535	c.429T>C	c.(427-429)aaT>aaC	p.N143N	GALC_ENST00000544807.2_Silent_p.N87N|GALC_ENST00000393569.2_Silent_p.N117N|GALC_ENST00000554916.1_5'UTR|GALC_ENST00000393568.4_Silent_p.N120N	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	143					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)	p.N143N(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGAGTGTAATATTGGGATTCC	0.378																																						uc001xvt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(427-429)AAT>AAC		galactosylceramidase isoform a precursor							166.0	151.0	156.0					14																	88452846		1877	4119	5996	SO:0001819	synonymous_variant	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88452846A>G	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.429T>C	14.37:g.88452846A>G						GALC_uc010tvx.1_Silent_p.N117N|GALC_uc010tvy.1_Silent_p.N120N|GALC_uc010tvz.1_Silent_p.N87N|GALC_uc001xvu.1_Silent_p.N143N	p.N143N	NM_000153	NP_000144	P54803	GALC_HUMAN			4	828	-			143					B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Silent	SNP	ENST00000261304.2	37	c.429T>C	CCDS9878.2																																																																																				PASS	0.378	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			27	62	27	62	---	---	---	---
SLC24A4	123041	broad.mit.edu	37	14	92959848	92959848	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr14:92959848G>T	ENST00000532405.1	+	17	1971	c.1745G>T	c.(1744-1746)cGa>cTa	p.R582L	SLC24A4_ENST00000531433.1_Missense_Mutation_p.R563L|SLC24A4_ENST00000351924.5_Missense_Mutation_p.R546L|SLC24A4_ENST00000393265.2_Missense_Mutation_p.R518L|SLC24A4_ENST00000298877.1_Missense_Mutation_p.R565L			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	582					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.R565L(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		AACAAGTGGCGACTGGACCGG	0.502																																					NSCLC(10;315 435 10383 28450 38798)	uc001yak.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(1693-1695)CGA>CTA		solute carrier family 24 member 4 isoform 1							195.0	156.0	169.0					14																	92959848		2203	4300	6503	SO:0001583	missense	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92959848G>T	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1745G>T	14.37:g.92959848G>T	ENSP00000431840:p.Arg582Leu					SLC24A4_uc001yai.2_Missense_Mutation_p.R518L|SLC24A4_uc010twm.1_Missense_Mutation_p.R563L|SLC24A4_uc001yaj.2_Missense_Mutation_p.R546L|SLC24A4_uc010auj.2_3'UTR|SLC24A4_uc010twn.1_Missense_Mutation_p.R338L|SLC24A4_uc001yan.2_Missense_Mutation_p.R276L	p.R565L	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	17	1718	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	582			Cytoplasmic (Potential).		B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	c.1694G>T	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800363	0.70567	.	.	ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924	T;T;T;T;T	0.67171	0.81;-0.25;0.81;0.81;-0.25	5.57	1.52	0.23074	Sodium/calcium exchanger membrane region (1);	0.211309	0.51477	D	0.000088	T	0.72020	0.3409	M	0.82323	2.585	0.30118	N	0.805966	P;P	0.44690	0.768;0.841	P;P	0.49421	0.573;0.61	T	0.70898	-0.4747	10	0.72032	D	0.01	.	7.9925	0.30248	0.4703:0.0:0.5297:0.0	.	563;582	Q8NFF2-3;Q8NFF2	.;NCKX4_HUMAN	L	518;563;582;565;546	ENSP00000376948:R518L;ENSP00000433302:R563L;ENSP00000431840:R582L;ENSP00000298877:R565L;ENSP00000337789:R546L	ENSP00000298877:R565L	R	+	2	0	SLC24A4	92029601	1.000000	0.71417	0.617000	0.29091	0.806000	0.45545	1.613000	0.36900	0.248000	0.21435	-1.149000	0.01842	CGA		PASS	0.502	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		12	43	12	43	---	---	---	---
RIN3	79890	broad.mit.edu	37	14	93151479	93151479	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr14:93151479C>A	ENST00000216487.7	+	9	2774	c.2615C>A	c.(2614-2616)tCc>tAc	p.S872Y	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	872					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.S872Y(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GCCCGGGCCTCCCGCTCCTCC	0.667																																						uc001yap.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(2614-2616)TCC>TAC		Ras and Rab interactor 3							26.0	27.0	26.0					14																	93151479		2203	4299	6502	SO:0001583	missense	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93151479C>A	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.2615C>A	14.37:g.93151479C>A	ENSP00000216487:p.Ser872Tyr					RIN3_uc010auk.2_Missense_Mutation_p.S534Y|RIN3_uc001yaq.2_Missense_Mutation_p.S797Y|RIN3_uc001yas.1_Missense_Mutation_p.S534Y	p.S872Y	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN			9	2767	+		all_cancers(154;0.0701)	872					Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	c.2615C>A	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092146	0.36952	.	.	ENSG00000100599	ENST00000216487;ENST00000428147	D	0.93307	-3.2	5.08	4.18	0.49190	.	0.412571	0.24700	N	0.036311	D	0.92427	0.7596	L	0.46157	1.445	0.80722	D	1	P;B;P	0.43885	0.819;0.149;0.82	P;B;B	0.46543	0.52;0.046;0.149	D	0.92618	0.6105	10	0.66056	D	0.02	-22.8204	15.1899	0.73035	0.1423:0.8577:0.0:0.0	.	872;797;872	Q8TB24-4;Q6ZRC2;Q8TB24	.;.;RIN3_HUMAN	Y	872;796	ENSP00000216487:S872Y	ENSP00000216487:S872Y	S	+	2	0	RIN3	92221232	0.867000	0.29959	0.986000	0.45419	0.487000	0.33371	1.706000	0.37878	1.269000	0.44280	0.563000	0.77884	TCC		PASS	0.667	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			12	24	12	24	---	---	---	---
DIO3	1735	broad.mit.edu	37	14	102028707	102028707	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr14:102028707T>A	ENST00000510508.4	+	1	1020	c.874T>A	c.(874-876)Tat>Aat	p.Y292N	DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_Missense_Mutation_p.Y266N			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	292					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)	p.Y266N(1)|p.Y292N(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				GTTGGAACGCTATGATGAGCA	0.597																																						uc010txq.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(796-798)TAT>AAT		deiodinase, iodothyronine, type III							48.0	53.0	52.0					14																	102028707		2069	4193	6262	SO:0001583	missense	1735				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	g.chr14:102028707T>A	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.874T>A	14.37:g.102028707T>A	ENSP00000427336:p.Tyr292Asn					DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank	p.Y266N	NM_001362	NP_001353	P55073	IOD3_HUMAN			2	1020	+		all_neural(303;0.185)	266			Extracellular (Potential).		G3XAM0|Q8WVN5	Missense_Mutation	SNP	ENST00000510508.4	37	c.796T>A	CCDS41992.2	.	.	.	.	.	.	.	.	.	.	T	22.6	4.311363	0.81358	.	.	ENSG00000197406;ENSG00000258865	ENST00000359323;ENST00000510508	T;T	0.30714	1.52;1.52	3.86	3.86	0.44501	.	0.000000	0.56097	U	0.000028	T	0.58206	0.2106	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.66015	-0.6028	10	0.72032	D	0.01	.	12.0234	0.53356	0.0:0.0:0.0:1.0	.	266	P55073	IOD3_HUMAN	N	266;292	ENSP00000352273:Y266N;ENSP00000427336:Y292N	ENSP00000352273:Y292N	Y	+	1	0	DIO3;AL049836.1	101098460	1.000000	0.71417	0.968000	0.41197	0.605000	0.37080	7.624000	0.83124	1.627000	0.50400	0.379000	0.24179	TAT		PASS	0.597	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		48	131	48	131	---	---	---	---
KIF26A	26153	broad.mit.edu	37	14	104641889	104641889	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr14:104641889G>A	ENST00000423312.2	+	12	2764	c.2764G>A	c.(2764-2766)Gac>Aac	p.D922N	KIF26A_ENST00000315264.7_Missense_Mutation_p.D783N	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	922					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)	p.D922N(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TGTCTGGGGTGACCAGAGAGA	0.682																																						uc001yos.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2764-2766)GAC>AAC		kinesin family member 26A							13.0	17.0	16.0					14																	104641889		1983	4114	6097	SO:0001583	missense	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104641889G>A	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.2764G>A	14.37:g.104641889G>A	ENSP00000388241:p.Asp922Asn						p.D922N	NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	12	2764	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	922					Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	37	c.2764G>A	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.973072	0.34848	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.78364	-1.17;-1.17	3.97	3.06	0.35304	.	.	.	.	.	T	0.67031	0.2850	L	0.40543	1.245	0.09310	N	1	B	0.29432	0.244	B	0.22601	0.04	T	0.50355	-0.8838	9	0.22109	T	0.4	.	12.2055	0.54350	0.0:0.1722:0.8278:0.0	.	922	Q9ULI4	KI26A_HUMAN	N	922;783	ENSP00000388241:D922N;ENSP00000325452:D783N	ENSP00000325452:D783N	D	+	1	0	KIF26A	103711642	0.047000	0.20315	0.037000	0.18230	0.481000	0.33189	1.281000	0.33214	0.776000	0.33473	-0.467000	0.05162	GAC		PASS	0.682	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			28	25	28	25	---	---	---	---
PLD4	122618	broad.mit.edu	37	14	105396386	105396386	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr14:105396386G>C	ENST00000392593.4	+	6	829	c.661G>C	c.(661-663)Gat>Cat	p.D221H	PLD4_ENST00000553861.1_5'Flank|PLD4_ENST00000540372.1_Missense_Mutation_p.D228H	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	221	PLD phosphodiesterase 1. {ECO:0000255|PROSITE-ProRule:PRU00153}.				glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)	p.D221H(1)|p.D204H(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)			CTGGGTTGTGGATGGACGGCA	0.582																																						uc001ypu.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(661-663)GAT>CAT		phospholipase D4	Choline(DB00122)						85.0	91.0	89.0					14																	105396386		2085	4216	6301	SO:0001583	missense	122618				lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity	g.chr14:105396386G>C		CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428			23792	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 175"""	C14orf175			Standard	XM_006720024		Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000392593.4:c.661G>C	14.37:g.105396386G>C	ENSP00000376372:p.Asp221His					PLD4_uc010tyl.1_Missense_Mutation_p.D228H	p.D221H	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		6	802	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	221			PLD phosphodiesterase 1.	Potential.	Q6UWD2	Missense_Mutation	SNP	ENST00000392593.4	37	c.661G>C	CCDS9995.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104715	0.77096	.	.	ENSG00000166428	ENST00000540372;ENST00000392593;ENST00000557573	T;T;T	0.41065	1.01;1.01;1.01	3.87	3.87	0.44632	Phospholipase D/Transphosphatidylase (3);	0.000000	0.85682	D	0.000000	T	0.79730	0.4496	H	0.99555	4.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89508	0.3769	10	0.87932	D	0	-20.0395	15.7717	0.78173	0.0:0.0:1.0:0.0	.	228;221	F5H2B5;Q96BZ4	.;PLD4_HUMAN	H	228;221;219	ENSP00000438677:D228H;ENSP00000376372:D221H;ENSP00000451278:D219H	ENSP00000376372:D221H	D	+	1	0	PLD4	104467431	1.000000	0.71417	0.835000	0.33067	0.789000	0.44602	9.386000	0.97228	1.860000	0.53959	0.561000	0.74099	GAT		PASS	0.582	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000291348.2	NM_138790		42	144	42	144	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105404734	105404734	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr14:105404734G>A	ENST00000333244.5	-	7	17173	c.17054C>T	c.(17053-17055)gCa>gTa	p.A5685V	AHNAK2_ENST00000557457.1_Missense_Mutation_p.A683V	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5685						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.A5685V(1)|p.A655V(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGGCAGTTCTGCCTCTGGTCG	0.478																																						uc010axc.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(17053-17055)GCA>GTA		AHNAK nucleoprotein 2							58.0	54.0	55.0					14																	105404734		1903	4124	6027	SO:0001583	missense	113146					nucleus		g.chr14:105404734G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.17054C>T	14.37:g.105404734G>A	ENSP00000353114:p.Ala5685Val					AHNAK2_uc001ypx.2_Missense_Mutation_p.A5585V	p.A5685V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	17174	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	5685					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.17054C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.800932	0.31869	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.02890	4.12;4.26	5.08	2.21	0.28008	.	1.932190	0.03409	U	0.204405	T	0.02807	0.0084	L	0.29908	0.895	0.09310	N	1	B	0.25312	0.123	B	0.22880	0.042	T	0.42632	-0.9440	10	0.32370	T	0.25	.	2.6493	0.04994	0.2135:0.1819:0.4854:0.1192	.	5685	Q8IVF2	AHNK2_HUMAN	V	683;5685	ENSP00000450998:A683V;ENSP00000353114:A5685V	ENSP00000353114:A5685V	A	-	2	0	AHNAK2	104475779	0.000000	0.05858	0.017000	0.16124	0.097000	0.18754	-0.386000	0.07370	1.141000	0.42275	0.655000	0.94253	GCA		PASS	0.478	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		49	60	49	60	---	---	---	---
IGHG3	3502	broad.mit.edu	37	14	106236302	106236302	+	RNA	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr14:106236302G>T	ENST00000390551.2	-	0	501							P01860	IGHG3_HUMAN	immunoglobulin heavy constant gamma 3 (G3m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										GAAGACTGACGGTCCTCCCAG	0.602																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							56.0	55.0	55.0					14																	106236302		2009	4166	6175			8755							g.chr14:106236302G>T	M12958		14q32.33	2012-10-02			ENSG00000211897	ENSG00000211897		"""Immunoglobulins / IGH locus"""	5527	other	immunoglobulin gene		147120				6808505	Standard	NG_001019		Approved			P01860	OTTHUMG00000152539		14.37:g.106236302G>T						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysh.1_RNA|uc001ysi.1_RNA								3616		-								A2NU35	RNA	SNP	ENST00000390551.2	37	c.57642C>A																																																																																					PASS	0.602	IGHG3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326654.1	NG_001019		71	88	71	88	---	---	---	---
IGHV1-45	28466	broad.mit.edu	37	14	106963106	106963106	+	RNA	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr14:106963106G>T	ENST00000390621.2	-	0	233									immunoglobulin heavy variable 1-45																		TTGTCCGGGGGCCTGTCGCAC	0.552																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							122.0	123.0	123.0					14																	106963106		1976	4155	6131			8755							g.chr14:106963106G>T	X92209		14q32.33	2012-02-08			ENSG00000211961	ENSG00000211961		"""Immunoglobulins / IGH locus"""	5553	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152075		14.37:g.106963106G>T														207		-									RNA	SNP	ENST00000390621.2	37	c.9578C>A																																																																																					PASS	0.552	IGHV1-45-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325169.1	NG_001019		74	177	74	177	---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25925977	25925977	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr15:25925977C>A	ENST00000356865.6	-	19	3769	c.3658G>T	c.(3658-3660)Ggc>Tgc	p.G1220C		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1220					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G1220C(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GTTTCAATGCCCAGGTGGAGC	0.562																																						uc010ayu.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(3658-3660)GGC>TGC		ATPase, class V, type 10A							124.0	122.0	123.0					15																	25925977		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25925977C>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3658G>T	15.37:g.25925977C>A	ENSP00000349325:p.Gly1220Cys						p.G1220C	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	19	3764	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1220			Helical; (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.3658G>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053871	0.55218	.	.	ENSG00000206190	ENST00000356865	T	0.40476	1.03	5.49	4.58	0.56647	.	0.049548	0.85682	D	0.000000	T	0.41003	0.1140	L	0.53617	1.68	0.54753	D	0.999982	B	0.28552	0.215	B	0.29353	0.101	T	0.33137	-0.9880	10	0.51188	T	0.08	-24.2531	14.2831	0.66226	0.0:0.9284:0.0:0.0716	.	1220	O60312	AT10A_HUMAN	C	1220	ENSP00000349325:G1220C	ENSP00000349325:G1220C	G	-	1	0	ATP10A	23477070	1.000000	0.71417	0.968000	0.41197	0.004000	0.04260	3.162000	0.50755	1.318000	0.45170	0.655000	0.94253	GGC		PASS	0.562	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		33	183	33	183	---	---	---	---
CDAN1	146059	broad.mit.edu	37	15	43020159	43020159	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr15:43020159T>C	ENST00000356231.3	-	22	2964	c.2941A>G	c.(2941-2943)Atc>Gtc	p.I981V		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	981					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.I981V(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		TTACCTGTGATGTTGGCTGAC	0.532																																						uc001zql.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2941-2943)ATC>GTC		codanin 1							212.0	204.0	207.0					15																	43020159		2203	4299	6502	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43020159T>C	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.2941A>G	15.37:g.43020159T>C	ENSP00000348564:p.Ile981Val					CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Missense_Mutation_p.I307V	p.I981V	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	22	3058	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	981					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.2941A>G	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.148301	0.37923	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.89552	-2.53	6.05	3.74	0.42951	.	0.042575	0.85682	D	0.000000	T	0.81118	0.4756	L	0.29908	0.895	0.45747	D	0.998649	B;B	0.26975	0.165;0.049	B;B	0.26416	0.069;0.013	T	0.76066	-0.3095	10	0.40728	T	0.16	-12.5122	9.1142	0.36746	0.0:0.1424:0.0:0.8576	.	981;979	Q8IWY9;C9K0H8	CDAN1_HUMAN;.	V	981;979	ENSP00000348564:I981V	ENSP00000267892:I979V	I	-	1	0	CDAN1	40807451	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	4.144000	0.58057	1.087000	0.41251	0.523000	0.50628	ATC		PASS	0.532	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		236	407	236	407	---	---	---	---
ADAL	161823	broad.mit.edu	37	15	43638116	43638116	+	Nonsense_Mutation	SNP	G	G	T	rs368279086		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr15:43638116G>T	ENST00000562188.1	+	6	506	c.490G>T	c.(490-492)Gag>Tag	p.E164*	ADAL_ENST00000422466.2_Nonsense_Mutation_p.E164*|ADAL_ENST00000428046.3_Nonsense_Mutation_p.E164*|ADAL_ENST00000389651.4_Nonsense_Mutation_p.E164*			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	164					adenosine catabolic process (GO:0006154)|drug metabolic process (GO:0017144)|inosine biosynthetic process (GO:0046103)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	adenosine deaminase activity (GO:0004000)|metal ion binding (GO:0046872)	p.E164*(2)		endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		AAAACTTGCCGAGGAGTTCTT	0.393																																						uc010udo.1																			2	Substitution - Nonsense(2)		lung(2)		0						c.(490-492)GAG>TAG		adenosine deaminase-like isoform 1							144.0	140.0	141.0					15																	43638116		2201	4299	6500	SO:0001587	stop_gained	161823				adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding	g.chr15:43638116G>T		CCDS32214.1, CCDS53936.1	15q15.3	2014-08-08			ENSG00000168803	ENSG00000168803			31853	protein-coding gene	gene with protein product							Standard	NM_001012969		Approved		uc010udo.2	Q6DHV7	OTTHUMG00000176646	ENST00000562188.1:c.490G>T	15.37:g.43638116G>T	ENSP00000456242:p.Glu164*					ADAL_uc001zrh.2_Nonsense_Mutation_p.E164*|ADAL_uc001zri.1_Nonsense_Mutation_p.E49*	p.E164*	NM_001159280	NP_001152752	Q6DHV7	ADAL_HUMAN		GBM - Glioblastoma multiforme(94;9.31e-07)	9	1064	+		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	164					A6NHZ3|B4DQM8	Nonsense_Mutation	SNP	ENST00000562188.1	37	c.490G>T		.	.	.	.	.	.	.	.	.	.	G	41	8.566777	0.98866	.	.	ENSG00000168803	ENST00000422466;ENST00000428046;ENST00000389651	.	.	.	5.87	1.71	0.24356	.	0.177233	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-8.9099	7.513	0.27585	0.154:0.2603:0.5858:0.0	.	.	.	.	X	164	.	ENSP00000374302:E164X	E	+	1	0	ADAL	41425408	0.998000	0.40836	0.997000	0.53966	0.986000	0.74619	1.938000	0.40203	0.426000	0.26116	0.655000	0.94253	GAG		PASS	0.393	ADAL-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432960.1	XM_091156		86	178	86	178	---	---	---	---
WDR72	256764	broad.mit.edu	37	15	53908408	53908408	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr15:53908408A>C	ENST00000396328.1	-	15	2234	c.1995T>G	c.(1993-1995)ttT>ttG	p.F665L	WDR72_ENST00000559418.1_Missense_Mutation_p.F675L|WDR72_ENST00000557913.1_Missense_Mutation_p.F662L|WDR72_ENST00000360509.5_Missense_Mutation_p.F665L	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	665								p.F665L(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GCAAGACATTAAAAGGTCTTG	0.338																																						uc002acj.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(1993-1995)TTT>TTG		WD repeat domain 72							53.0	52.0	52.0					15																	53908408		2193	4292	6485	SO:0001583	missense	256764							g.chr15:53908408A>C	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1995T>G	15.37:g.53908408A>C	ENSP00000379619:p.Phe665Leu					WDR72_uc010bfi.1_Missense_Mutation_p.F665L	p.F665L	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	15	2037	-			665					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.1995T>G	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	A	3.948	-0.012891	0.07727	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.27890	1.64;1.64	5.23	-1.31	0.09230	.	0.000000	0.85682	D	0.000000	T	0.20981	0.0505	L	0.36672	1.1	0.25842	N	0.984049	D	0.53312	0.959	P	0.47744	0.556	T	0.35201	-0.9798	10	0.02654	T	1	.	9.8807	0.41231	0.6381:0.0:0.3619:0.0	.	665	Q3MJ13	WDR72_HUMAN	L	665	ENSP00000379619:F665L;ENSP00000353699:F665L	ENSP00000353699:F665L	F	-	3	2	WDR72	51695700	0.318000	0.24598	0.217000	0.23759	0.395000	0.30598	0.774000	0.26675	-0.265000	0.09352	-0.736000	0.03550	TTT		PASS	0.338	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		22	87	22	87	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54630612	54630612	+	Silent	SNP	A	A	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr15:54630612A>T	ENST00000260323.11	+	16	4638	c.4638A>T	c.(4636-4638)gtA>gtT	p.V1546V	UNC13C_ENST00000545554.1_Silent_p.V1546V|UNC13C_ENST00000537900.1_Silent_p.V1544V	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1546					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.V1546V(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGGACTGTGTAAGGGCTTGCC	0.423																																						uc002ack.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(4636-4638)GTA>GTT		unc-13 homolog C							144.0	148.0	147.0					15																	54630612		1894	4106	6000	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54630612A>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4638A>T	15.37:g.54630612A>T						UNC13C_uc002acl.2_Silent_p.V376V	p.V1546V	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	15	4638	+			1546					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.4638A>T	CCDS45264.1																																																																																				PASS	0.423	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		40	180	40	180	---	---	---	---
PLEKHO2	80301	broad.mit.edu	37	15	65157606	65157606	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr15:65157606C>T	ENST00000323544.4	+	6	1120	c.992C>T	c.(991-993)tCt>tTt	p.S331F	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	331	Pro-rich.							p.S331F(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						ATGCAGGCTTCTGGGCCACCT	0.602																																						uc002anv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(991-993)TCT>TTT		pleckstrin homology domain containing, family O							51.0	56.0	54.0					15																	65157606		2202	4299	6501	SO:0001583	missense	80301							g.chr15:65157606C>T	AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"""Pleckstrin homology (PH) domain containing"""	30026	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family Q member 1"""	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.992C>T	15.37:g.65157606C>T	ENSP00000326706:p.Ser331Phe					PLEKHO2_uc010bgz.2_Missense_Mutation_p.S7F|PLEKHO2_uc002anw.2_Missense_Mutation_p.S281F	p.S331F	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN			6	1126	+			331			Pro-rich.		Q7L4H4|Q8WYS8	Missense_Mutation	SNP	ENST00000323544.4	37	c.992C>T	CCDS10196.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546117	0.65198	.	.	ENSG00000241839	ENST00000323544	T	0.35048	1.33	5.49	4.58	0.56647	.	0.744240	0.13413	N	0.389738	T	0.38931	0.1059	L	0.29908	0.895	0.31979	N	0.606077	P;P	0.45827	0.867;0.79	P;P	0.51135	0.66;0.459	T	0.47674	-0.9099	10	0.66056	D	0.02	.	11.6373	0.51211	0.0:0.9188:0.0:0.0812	.	281;331	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	F	331	ENSP00000326706:S331F	ENSP00000326706:S331F	S	+	2	0	PLEKHO2	62944659	0.103000	0.21917	0.982000	0.44146	0.885000	0.51271	2.057000	0.41365	1.315000	0.45114	0.655000	0.94253	TCT		PASS	0.602	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1	NM_025201		25	78	25	78	---	---	---	---
HEXA	3073	broad.mit.edu	37	15	72643512	72643512	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr15:72643512G>A	ENST00000268097.5	-	6	1137	c.634C>T	c.(634-636)Cca>Tca	p.P212S	RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000457859.2_Missense_Mutation_p.P20S|HEXA_ENST00000429918.2_Missense_Mutation_p.P39S|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000566304.1_Missense_Mutation_p.P223S|HEXA_ENST00000567159.1_Missense_Mutation_p.P212S	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	212					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)	p.P212S(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CTCTCATATGGGAAGGAAGGA	0.458																																						uc002aun.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(634-636)CCA>TCA		hexosaminidase A preproprotein							170.0	139.0	150.0					15																	72643512		2199	4297	6496	SO:0001583	missense	3073				cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	g.chr15:72643512G>A	M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.634C>T	15.37:g.72643512G>A	ENSP00000268097:p.Pro212Ser					uc002aug.2_RNA|CELF6_uc002auk.3_Intron|HEXA_uc010ukn.1_Missense_Mutation_p.P223S|HEXA_uc002auo.3_Missense_Mutation_p.P75S|HEXA_uc010bix.2_Missense_Mutation_p.P212S|HEXA_uc010biy.2_Missense_Mutation_p.P75S|HEXA_uc010uko.1_Missense_Mutation_p.P38S|HEXA_uc010biz.1_RNA	p.P212S	NM_000520	NP_000511	P06865	HEXA_HUMAN			6	841	-			212					B4DKE7|E7ENH7|Q53HS8|Q6AI32	Missense_Mutation	SNP	ENST00000268097.5	37	c.634C>T	CCDS10243.1	.	.	.	.	.	.	.	.	.	.	G	35	5.477120	0.96291	.	.	ENSG00000213614	ENST00000268097;ENST00000457859;ENST00000429918	D;D;D	0.96913	-4.17;-4.17;-4.17	5.78	5.78	0.91487	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	0.000000	0.85682	D	0.000000	D	0.98868	0.9617	H	0.95850	3.73	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.996;1.0;0.999;1.0	D;D;D;D;D	0.97110	1.0;0.996;1.0;0.993;1.0	D	0.98928	1.0786	10	0.54805	T	0.06	-10.9953	20.0119	0.97458	0.0:0.0:1.0:0.0	.	39;223;39;92;212	E9PGL4;B4DVA7;B4DVL8;Q9BVJ8;P06865	.;.;.;.;HEXA_HUMAN	S	212;20;39	ENSP00000268097:P212S;ENSP00000398026:P20S;ENSP00000416187:P39S	ENSP00000268097:P212S	P	-	1	0	HEXA	70430566	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.743000	0.98849	2.706000	0.92434	0.655000	0.94253	CCA		PASS	0.458	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520		38	53	38	53	---	---	---	---
BBS4	585	broad.mit.edu	37	15	72987552	72987552	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr15:72987552A>T	ENST00000268057.4	+	2	100	c.59A>T	c.(58-60)aAa>aTa	p.K20I	BBS4_ENST00000542334.1_Intron|BBS4_ENST00000539603.1_5'UTR|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000395205.2_Missense_Mutation_p.K28I	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	20	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)	p.K20I(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GAGTCTCAAAAACCCCGGCAG	0.323									Bardet-Biedl syndrome																													uc002avb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(58-60)AAA>ATA		Bardet-Biedl syndrome 4							66.0	71.0	70.0					15																	72987552		2198	4295	6493	SO:0001583	missense	585	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity	g.chr15:72987552A>T	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.59A>T	15.37:g.72987552A>T	ENSP00000268057:p.Lys20Ile					BBS4_uc010ukv.1_5'UTR|BBS4_uc002avc.2_Intron|BBS4_uc002avd.2_Missense_Mutation_p.K28I	p.K20I	NM_033028	NP_149017	Q96RK4	BBS4_HUMAN			2	102	+			20			Required for localization to centrosomes.		B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	ENST00000268057.4	37	c.59A>T	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	A	7.440	0.640568	0.14386	.	.	ENSG00000140463	ENST00000268057;ENST00000395205	T;T	0.51071	0.72;0.72	3.33	2.21	0.28008	.	0.436409	0.20556	N	0.090018	T	0.38746	0.1052	M	0.64997	1.995	0.44627	D	0.997605	P;B	0.41524	0.753;0.257	B;B	0.37304	0.246;0.054	T	0.22906	-1.0203	10	0.52906	T	0.07	-1.2847	4.984	0.14180	0.8616:0.0:0.1384:0.0	.	28;20	Q96RK4-2;Q96RK4	.;BBS4_HUMAN	I	20;28	ENSP00000268057:K20I;ENSP00000378631:K28I	ENSP00000268057:K20I	K	+	2	0	BBS4	70774605	0.971000	0.33674	0.602000	0.28890	0.296000	0.27459	1.365000	0.34182	0.670000	0.31165	0.482000	0.46254	AAA		PASS	0.323	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028		32	116	32	116	---	---	---	---
CYP1A1	1543	broad.mit.edu	37	15	75014915	75014915	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr15:75014915T>G	ENST00000379727.3	-	2	722	c.524A>C	c.(523-525)cAg>cCg	p.Q175P	CYP1A1_ENST00000567032.1_Missense_Mutation_p.Q175P|CYP1A1_ENST00000395048.2_Missense_Mutation_p.Q175P|CYP1A1_ENST00000395049.4_Missense_Mutation_p.Q175P|CYP1A1_ENST00000564596.1_Intron			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	175					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)	p.Q175P(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	CATCAGCTCCTGCAACGTGCT	0.542									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													uc002ayp.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(523-525)CAG>CCG		cytochrome P450, family 1, subfamily A,	Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)						83.0	77.0	79.0					15																	75014915		2197	4296	6493	SO:0001583	missense	1543	Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	g.chr15:75014915T>G	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.524A>C	15.37:g.75014915T>G	ENSP00000369050:p.Gln175Pro					CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Intron|CYP1A1_uc010bjx.2_Intron|CYP1A1_uc002ayq.3_Missense_Mutation_p.Q175P|CYP1A1_uc010bjy.2_Missense_Mutation_p.Q175P|CYP1A1_uc010bjz.1_Intron	p.Q175P	NM_000499	NP_000490	P04798	CP1A1_HUMAN			2	646	-			175					A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	ENST00000379727.3	37	c.524A>C	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	T	13.15	2.150261	0.37923	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	T;T;T	0.70045	-0.45;-0.45;-0.45	4.91	4.91	0.64330	.	0.473525	0.25442	N	0.030651	D	0.84014	0.5379	M	0.92412	3.305	0.35776	D	0.821305	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.981	D	0.89441	0.3723	10	0.56958	D	0.05	.	10.5248	0.44941	0.1538:0.0:0.0:0.8462	.	175;175	E7EMT5;P04798	.;CP1A1_HUMAN	P	175	ENSP00000369050:Q175P;ENSP00000378488:Q175P;ENSP00000378489:Q175P	ENSP00000268062:Q175P	Q	-	2	0	CYP1A1	72801968	1.000000	0.71417	0.998000	0.56505	0.742000	0.42306	1.603000	0.36794	1.832000	0.53329	0.379000	0.24179	CAG		PASS	0.542	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499		41	131	41	131	---	---	---	---
FBXO22	26263	broad.mit.edu	37	15	76225331	76225331	+	Missense_Mutation	SNP	G	G	T	rs141220458		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr15:76225331G>T	ENST00000308275.3	+	7	1205	c.1100G>T	c.(1099-1101)cGg>cTg	p.R367L	FBXO22_ENST00000540507.1_Missense_Mutation_p.R263L	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	367					cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)	p.R367L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GGATGTGATCGGATAGTCACT	0.388																																						uc002bbk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1099-1101)CGG>CTG		F-box only protein 22 isoform a							158.0	160.0	159.0					15																	76225331		2197	4294	6491	SO:0001583	missense	26263				ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity	g.chr15:76225331G>T	AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"""F-boxes /  ""other"""""	13593	protein-coding gene	gene with protein product	"""FIST domain containing 1"""	609096	"""F-box only protein 22"""			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.1100G>T	15.37:g.76225331G>T	ENSP00000307833:p.Arg367Leu					FBXO22_uc002bbl.2_Missense_Mutation_p.R263L|FBXO22OS_uc002bbm.1_RNA	p.R367L	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN			7	1205	+			367					Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Missense_Mutation	SNP	ENST00000308275.3	37	c.1100G>T	CCDS10287.1	.	.	.	.	.	.	.	.	.	.	G	32	5.161257	0.94727	.	.	ENSG00000167196	ENST00000308275;ENST00000540507	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.57140	0.2033	L	0.36672	1.1	0.80722	D	1	P	0.51449	0.945	P	0.46320	0.512	T	0.60855	-0.7180	9	0.72032	D	0.01	-16.6146	19.0872	0.93209	0.0:0.0:1.0:0.0	.	367	Q8NEZ5	FBX22_HUMAN	L	367;263	.	ENSP00000307833:R367L	R	+	2	0	FBXO22	74012386	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.122000	0.94380	2.752000	0.94435	0.655000	0.94253	CGG		PASS	0.388	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286477.2	NM_147188		86	140	86	140	---	---	---	---
ZFAND6	54469	broad.mit.edu	37	15	80423618	80423618	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr15:80423618A>G	ENST00000261749.6	+	6	883	c.461A>G	c.(460-462)aAg>aGg	p.K154R	ZFAND6_ENST00000558688.1_Missense_Mutation_p.K154R|ZFAND6_ENST00000559775.1_Missense_Mutation_p.K154R|ZFAND6_ENST00000559157.1_Missense_Mutation_p.K142R|ZFAND6_ENST00000561060.1_Missense_Mutation_p.K154R|ZFAND6_ENST00000558087.1_Missense_Mutation_p.K154R|ZFAND6_ENST00000559835.1_Missense_Mutation_p.K154R|ZFAND6_ENST00000558494.1_Missense_Mutation_p.K154R	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	154					apoptotic process (GO:0006915)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|protein targeting to peroxisome (GO:0006625)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)	p.K154R(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						ATGTGCAGGAAGAAAGTGGGA	0.348																																						uc002bfe.1																			1	Substitution - Missense(1)		lung(1)		0						c.(460-462)AAG>AGG		zinc finger, AN1-type domain 6							95.0	88.0	91.0					15																	80423618		2203	4300	6503	SO:0001583	missense	54469						DNA binding|zinc ion binding	g.chr15:80423618A>G	BC005283	CCDS10313.1, CCDS58395.1	15q24.3	2013-01-09	2006-07-07	2006-07-07	ENSG00000086666	ENSG00000086666		"""Zinc fingers, AN1-type domain containing"""	30164	protein-coding gene	gene with protein product	"""protein associated with PRK1"""	610183	"""zinc finger, A20 domain containing 3"""	ZA20D3		11054541	Standard	NM_019006		Approved	ZFAND5B, AWP1	uc002bff.2	Q6FIF0	OTTHUMG00000144169	ENST00000261749.6:c.461A>G	15.37:g.80423618A>G	ENSP00000261749:p.Lys154Arg					ZFAND6_uc002bff.1_Missense_Mutation_p.K154R|ZFAND6_uc002bfg.1_Missense_Mutation_p.K142R|ZFAND6_uc002bfh.1_Missense_Mutation_p.K154R|ZFAND6_uc002bfi.1_Missense_Mutation_p.K154R	p.K154R	NM_019006	NP_061879	Q6FIF0	ZFAN6_HUMAN			6	772	+			154			AN1-type.		D3DW92|D3DW94|O95792|Q9BQF7|Q9GZY3	Missense_Mutation	SNP	ENST00000261749.6	37	c.461A>G	CCDS10313.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.654947	0.88056	.	.	ENSG00000086666	ENST00000261749	T	0.48201	0.82	5.28	5.28	0.74379	Zinc finger, AN1-type (4);	0.000000	0.64402	D	0.000001	T	0.65312	0.2679	M	0.64080	1.96	0.80722	D	1	D;D	0.69078	0.966;0.997	P;D	0.79108	0.747;0.992	T	0.65212	-0.6223	10	0.41790	T	0.15	.	15.2219	0.73316	1.0:0.0:0.0:0.0	.	142;154	Q6FIF0-2;Q6FIF0	.;ZFAN6_HUMAN	R	154	ENSP00000261749:K154R	ENSP00000261749:K154R	K	+	2	0	ZFAND6	78210673	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.726000	0.91474	1.996000	0.58369	0.482000	0.46254	AAG		PASS	0.348	ZFAND6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291368.1	NM_019006		26	101	26	101	---	---	---	---
AKAP13	11214	broad.mit.edu	37	15	86122469	86122469	+	Silent	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr15:86122469C>T	ENST00000394518.2	+	7	1265	c.1170C>T	c.(1168-1170)gaC>gaT	p.D390D	AKAP13_ENST00000361243.2_Silent_p.D390D|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	390					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.D390D(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CTATTGTGGACTCTGGAACTG	0.483																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(1168-1170)GAC>GAT		A-kinase anchor protein 13 isoform 2							88.0	95.0	92.0					15																	86122469		2202	4299	6501	SO:0001819	synonymous_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86122469C>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.1170C>T	15.37:g.86122469C>T						AKAP13_uc002blt.1_Silent_p.D390D|AKAP13_uc002blu.1_Silent_p.D390D	p.D390D	NM_007200	NP_009131	Q12802	AKP13_HUMAN			7	1340	+			390					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.1170C>T	CCDS32319.1																																																																																				PASS	0.483	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		16	199	16	199	---	---	---	---
FLYWCH1	84256	broad.mit.edu	37	16	2983294	2983294	+	Silent	SNP	A	A	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr16:2983294A>G	ENST00000253928.9	+	5	1365	c.960A>G	c.(958-960)ggA>ggG	p.G320G	FLYWCH1_ENST00000399667.2_Silent_p.G320G|FLYWCH1_ENST00000416288.2_Silent_p.G319G			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	320						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G320G(1)		kidney(1)|lung(3)	4						TCACCCAGGGACAGCGGGTGA	0.682																																						uc002csd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(958-960)GGA>GGG		FLYWCH-type zinc finger 1 isoform a							23.0	26.0	25.0					16																	2983294		2119	4219	6338	SO:0001819	synonymous_variant	84256					nucleus	DNA binding|metal ion binding	g.chr16:2983294A>G	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"""Zinc fingers"""	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.960A>G	16.37:g.2983294A>G						FLYWCH1_uc002csb.2_Silent_p.G319G|FLYWCH1_uc002csc.2_Silent_p.G319G|FLYWCH1_uc010bsv.2_5'UTR	p.G320G	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN			5	1323	+			320			FLYWCH-type 2.		D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Silent	SNP	ENST00000253928.9	37	c.960A>G																																																																																					PASS	0.682	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	NM_032296		7	6	7	6	---	---	---	---
ACSM2A	123876	broad.mit.edu	37	16	20471590	20471590	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr16:20471590G>T	ENST00000573854.1	+	2	268	c.154G>T	c.(154-156)Gat>Tat	p.D52Y	ACSM2A_ENST00000417235.2_Intron|ACSM2A_ENST00000575558.1_Intron|ACSM2A_ENST00000396104.2_Missense_Mutation_p.D52Y|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000575690.1_Missense_Mutation_p.D52Y|ACSM2A_ENST00000424070.1_Missense_Mutation_p.D52Y|ACSM2A_ENST00000219054.6_Missense_Mutation_p.D52Y	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	52					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.D52Y(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TGATGTGTTGGATCACTGGGC	0.453																																						uc010bwe.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|breast(1)	3						c.(154-156)GAT>TAT		acyl-CoA synthetase medium-chain family member							57.0	53.0	54.0					16																	20471590		2203	4300	6503	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20471590G>T	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.154G>T	16.37:g.20471590G>T	ENSP00000459451:p.Asp52Tyr					ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Intron|ACSM2A_uc002dhf.3_Missense_Mutation_p.D52Y|ACSM2A_uc002dhg.3_Missense_Mutation_p.D52Y|ACSM2A_uc010vay.1_Intron	p.D52Y	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			3	393	+			52					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.154G>T	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412247	0.62511	.	.	ENSG00000183747	ENST00000219054;ENST00000424070;ENST00000396104	T;T;T	0.52295	0.67;0.67;0.67	3.81	3.81	0.43845	.	0.000000	0.45606	D	0.000351	T	0.67373	0.2886	M	0.79475	2.455	0.39159	D	0.962365	D	0.89917	1.0	D	0.79784	0.993	T	0.74722	-0.3569	10	0.87932	D	0	-15.5063	13.0116	0.58733	0.0:0.0:1.0:0.0	.	52	Q08AH3	ACS2A_HUMAN	Y	52	ENSP00000219054:D52Y;ENSP00000394904:D52Y;ENSP00000379411:D52Y	ENSP00000219054:D52Y	D	+	1	0	ACSM2A	20379091	0.997000	0.39634	0.868000	0.34077	0.939000	0.58152	5.159000	0.64923	1.831000	0.53308	0.454000	0.30748	GAT		PASS	0.453	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		33	69	33	69	---	---	---	---
PRKCB	5579	broad.mit.edu	37	16	24104168	24104168	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr16:24104168G>T	ENST00000321728.7	+	6	761	c.586G>T	c.(586-588)Gta>Tta	p.V196L	PRKCB_ENST00000482000.1_3'UTR|PRKCB_ENST00000303531.7_Missense_Mutation_p.V196L	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	196	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.V196L(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	AGATCCCTACGTAAAACTGAA	0.408																																						uc002dmd.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9						c.(586-588)GTA>TTA		protein kinase C, beta isoform 1	Vitamin E(DB00163)						170.0	148.0	156.0					16																	24104168		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24104168G>T	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.586G>T	16.37:g.24104168G>T	ENSP00000318315:p.Val196Leu					PRKCB_uc002dme.2_Missense_Mutation_p.V196L	p.V196L	NM_212535	NP_997700	P05771	KPCB_HUMAN			6	783	+			196			C2.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.586G>T	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488197	0.84854	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.60171	0.21;0.21	5.18	5.18	0.71444	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000001	T	0.69780	0.3149	M	0.82056	2.57	0.80722	D	1	B;B	0.31611	0.283;0.331	B;P	0.45377	0.347;0.478	T	0.65331	-0.6194	10	0.16420	T	0.52	.	18.0382	0.89311	0.0:0.0:1.0:0.0	.	196;196	P05771-2;P05771	.;KPCB_HUMAN	L	196	ENSP00000318315:V196L;ENSP00000305355:V196L	ENSP00000305355:V196L	V	+	1	0	PRKCB	24011669	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.328000	0.96403	2.577000	0.86979	0.555000	0.69702	GTA		PASS	0.408	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		123	239	123	239	---	---	---	---
SLC5A11	115584	broad.mit.edu	37	16	24895427	24895427	+	Silent	SNP	A	A	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr16:24895427A>T	ENST00000347898.3	+	8	1261	c.639A>T	c.(637-639)atA>atT	p.I213I	SLC5A11_ENST00000545376.1_Silent_p.I143I|SLC5A11_ENST00000569071.1_Silent_p.I149I|SLC5A11_ENST00000567758.1_Silent_p.I178I|SLC5A11_ENST00000539472.1_Silent_p.I149I|SLC5A11_ENST00000565769.1_Silent_p.I149I|SLC5A11_ENST00000449109.2_Silent_p.I149I|SLC5A11_ENST00000568579.1_Silent_p.I143I|SLC5A11_ENST00000424767.2_Silent_p.I178I	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.I213I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TCATGCTTATAGGAGCGCTCA	0.592																																						uc002dmu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(637-639)ATA>ATT		solute carrier family 5 (sodium/glucose							169.0	154.0	159.0					16																	24895427		2197	4300	6497	SO:0001819	synonymous_variant	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24895427A>T	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.639A>T	16.37:g.24895427A>T						SLC5A11_uc002dms.2_Silent_p.I149I|SLC5A11_uc010vcd.1_Silent_p.I178I|SLC5A11_uc002dmt.2_Silent_p.I149I|SLC5A11_uc010vce.1_Silent_p.I143I|SLC5A11_uc010bxt.2_Silent_p.I149I	p.I213I	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	8	871	+			213			Helical; (Potential).			Silent	SNP	ENST00000347898.3	37	c.639A>T	CCDS10625.1																																																																																				PASS	0.592	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		169	328	169	328	---	---	---	---
SLC5A11	115584	broad.mit.edu	37	16	24902199	24902199	+	Missense_Mutation	SNP	C	C	T	rs200088797		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr16:24902199C>T	ENST00000347898.3	+	9	1296	c.674C>T	c.(673-675)gCg>gTg	p.A225V	SLC5A11_ENST00000568579.1_Missense_Mutation_p.A155V|SLC5A11_ENST00000545376.1_Missense_Mutation_p.A155V|SLC5A11_ENST00000449109.2_Intron|SLC5A11_ENST00000569071.1_Intron|SLC5A11_ENST00000567758.1_Missense_Mutation_p.A190V|SLC5A11_ENST00000565769.1_Missense_Mutation_p.A161V|SLC5A11_ENST00000539472.1_Missense_Mutation_p.A161V|SLC5A11_ENST00000424767.2_Missense_Mutation_p.A190V	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.A225V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GGTTTTGCCGCGGTTGGTGGG	0.537													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16206	0.0		0.0	False		,,,				2504	0.0					uc002dmu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(673-675)GCG>GTG		solute carrier family 5 (sodium/glucose		C	VAL/ALA	1,4393	2.1+/-5.4	0,1,2196	121.0	125.0	124.0		674	3.9	0.1	16		124	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC5A11	NM_052944.2	64	0,2,6495	TT,TC,CC		0.0116,0.0228,0.0154	benign	225/676	24902199	2,12992	2197	4300	6497	SO:0001583	missense	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24902199C>T	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.674C>T	16.37:g.24902199C>T	ENSP00000289932:p.Ala225Val					SLC5A11_uc002dms.2_Missense_Mutation_p.A161V|SLC5A11_uc010vcd.1_Missense_Mutation_p.A190V|SLC5A11_uc002dmt.2_Intron|SLC5A11_uc010vce.1_Missense_Mutation_p.A155V|SLC5A11_uc010bxt.2_Missense_Mutation_p.A161V	p.A225V	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	9	906	+			225			Helical; (Potential).			Missense_Mutation	SNP	ENST00000347898.3	37	c.674C>T	CCDS10625.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.08	2.725812	0.48833	2.28E-4	1.16E-4	ENSG00000158865	ENST00000347898;ENST00000424767;ENST00000545376;ENST00000539472	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	5.9	3.87	0.44632	.	0.149525	0.56097	D	0.000021	D	0.87993	0.6318	L	0.41632	1.29	0.26280	N	0.978287	D;D;D	0.63046	0.992;0.978;0.97	P;P;P	0.52066	0.689;0.562;0.689	T	0.81562	-0.0876	10	0.62326	D	0.03	.	12.0765	0.53647	0.4527:0.5473:0.0:0.0	.	155;190;225	B7Z329;Q8WWX8-2;Q8WWX8	.;.;SC5AB_HUMAN	V	225;190;155;161	ENSP00000289932:A225V;ENSP00000416782:A190V;ENSP00000441384:A155V;ENSP00000441018:A161V	ENSP00000289932:A225V	A	+	2	0	SLC5A11	24809700	0.986000	0.35501	0.074000	0.20217	0.028000	0.11728	2.747000	0.47475	0.770000	0.33336	0.650000	0.86243	GCG		PASS	0.537	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		15	376	15	376	---	---	---	---
TRIM72	493829	broad.mit.edu	37	16	31235576	31235576	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr16:31235576G>A	ENST00000322122.3	+	7	1218	c.934G>A	c.(934-936)Gag>Aag	p.E312K	RP11-388M20.9_ENST00000576745.1_lincRNA	NM_001008274.3	NP_001008275.2			tripartite motif containing 72, E3 ubiquitin protein ligase									p.E312K(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						CCGCCGCGTGGAGTGCTCGGA	0.692																																						uc002ebn.1																			2	Substitution - Missense(2)		lung(2)		0						c.(934-936)GAG>AAG		tripartite motif-containing 72							19.0	20.0	20.0					16																	31235576		2194	4291	6485	SO:0001583	missense	493829				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding	g.chr16:31235576G>A	AK090695	CCDS32437.1	16p11.2	2014-02-10	2014-02-10					"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32671	protein-coding gene	gene with protein product	"""mitsugumin 53"""	613288	"""tripartite motif-containing 72"", ""tripartite motif containing 72"""			20399744, 23354051	Standard	NM_001008274		Approved	MG53	uc002ebn.2	Q6ZMU5		ENST00000322122.3:c.934G>A	16.37:g.31235576G>A	ENSP00000312675:p.Glu312Lys					uc002ebp.1_5'Flank	p.E312K	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN			7	1163	+			312			B30.2/SPRY.			Missense_Mutation	SNP	ENST00000322122.3	37	c.934G>A	CCDS32437.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635026	0.87760	.	.	ENSG00000177238	ENST00000322122	T	0.10382	2.88	5.44	4.46	0.54185	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);	0.000000	0.64402	D	0.000001	T	0.17577	0.0422	N	0.17345	0.48	0.53005	D	0.999961	D	0.89917	1.0	D	0.91635	0.999	T	0.12426	-1.0548	10	0.24483	T	0.36	.	14.9494	0.71060	0.0:0.1442:0.8558:0.0	.	312	Q6ZMU5	TRI72_HUMAN	K	312	ENSP00000312675:E312K	ENSP00000312675:E312K	E	+	1	0	TRIM72	31143077	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.557000	0.36299	1.270000	0.44297	0.491000	0.48974	GAG		PASS	0.692	TRIM72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433567.1	NM_001008274		6	32	6	32	---	---	---	---
CES1	1066	broad.mit.edu	37	16	55844487	55844487	+	Missense_Mutation	SNP	G	G	T	rs139540470		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr16:55844487G>T	ENST00000361503.4	-	11	1387	c.1257C>A	c.(1255-1257)gaC>gaA	p.D419E	CES1_ENST00000360526.3_Missense_Mutation_p.D420E|CES1_ENST00000422046.2_Missense_Mutation_p.D418E			P23141	EST1_HUMAN	carboxylesterase 1	419					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)	p.D420E(1)							all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	CTGCTATCAAGTCCAGGAACA	0.488																																					NSCLC(162;1801 2756 42904 52896)	uc002eim.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1255-1257)GAC>GAA		carboxylesterase 1 isoform b precursor	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						207.0	211.0	210.0					16																	55844487		2198	4300	6498	SO:0001583	missense	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55844487G>T	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.1257C>A	16.37:g.55844487G>T	ENSP00000355193:p.Asp419Glu					CES1_uc010ccf.2_Missense_Mutation_p.D94E|CES1_uc002eil.2_Missense_Mutation_p.D420E|CES1_uc002ein.2_Missense_Mutation_p.D418E	p.D419E	NM_001025194	NP_001020365	P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	11	1365	-			419					A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	c.1257C>A	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	3.306	-0.141742	0.06669	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.66099	-0.19;-0.19;-0.19	4.69	3.66	0.41972	Carboxylesterase, type B (1);	0.088838	0.49305	D	0.000155	T	0.44286	0.1286	L	0.33293	1	0.29582	N	0.849083	B;B;B	0.10296	0.003;0.002;0.001	B;B;B	0.16722	0.014;0.016;0.006	T	0.32052	-0.9921	10	0.09084	T	0.74	.	7.8275	0.29324	0.1316:0.0:0.8684:0.0	.	418;419;420	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	E	420;419;418;284	ENSP00000353720:D420E;ENSP00000355193:D419E;ENSP00000390492:D418E	ENSP00000353720:D420E	D	-	3	2	CES1	54401988	0.000000	0.05858	0.169000	0.22859	0.113000	0.19764	-0.707000	0.05041	0.857000	0.35407	0.456000	0.33151	GAC		PASS	0.488	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		80	255	80	255	---	---	---	---
PSKH1	5681	broad.mit.edu	37	16	67943500	67943500	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr16:67943500T>G	ENST00000291041.5	+	2	1018	c.848T>G	c.(847-849)cTg>cGg	p.L283R		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	283	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L283R(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		ATGTGGGCGCTGGGCGTCATT	0.567																																						uc002euv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(847-849)CTG>CGG		protein serine kinase H1							97.0	82.0	87.0					16																	67943500		2198	4300	6498	SO:0001583	missense	5681					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr16:67943500T>G	M14504	CCDS10851.1	16q22.1	2008-02-05			ENSG00000159792	ENSG00000159792			9529	protein-coding gene	gene with protein product		177015				8268911	Standard	NM_006742		Approved		uc002euv.3	P11801	OTTHUMG00000137548	ENST00000291041.5:c.848T>G	16.37:g.67943500T>G	ENSP00000291041:p.Leu283Arg					PSKH1_uc010cet.2_Missense_Mutation_p.L283R	p.L283R	NM_006742	NP_006733	P11801	KPSH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)	2	1018	+		Ovarian(137;0.192)	283			Protein kinase.		Q9NY19	Missense_Mutation	SNP	ENST00000291041.5	37	c.848T>G	CCDS10851.1	.	.	.	.	.	.	.	.	.	.	T	19.79	3.893071	0.72524	.	.	ENSG00000159792	ENST00000291041	T	0.52295	0.67	5.45	5.45	0.79879	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72382	0.3453	M	0.87827	2.91	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.78393	-0.2221	10	0.87932	D	0	-6.559	15.173	0.72891	0.0:0.0:0.0:1.0	.	283	P11801	KPSH1_HUMAN	R	283	ENSP00000291041:L283R	ENSP00000291041:L283R	L	+	2	0	PSKH1	66501001	1.000000	0.71417	0.867000	0.34043	0.642000	0.38348	6.289000	0.72696	2.071000	0.62044	0.533000	0.62120	CTG		PASS	0.567	PSKH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268882.3	NM_006742		31	29	31	29	---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	70934960	70934960	+	Silent	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr16:70934960G>A	ENST00000393567.2	-	53	9145	c.8995C>T	c.(8995-8997)Ctg>Ttg	p.L2999L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2999					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.L556L(1)|p.L2950L(1)|p.L2998L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGAAAGTACAGGTGCAGGCCG	0.542																																						uc002ezr.2																			3	Substitution - coding silent(3)		lung(3)	ovary(1)|skin(1)	2						c.(8992-8994)CTG>TTG		hydrocephalus inducing isoform a							116.0	115.0	116.0					16																	70934960		1983	4160	6143	SO:0001819	synonymous_variant	54768							g.chr16:70934960G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.8995C>T	16.37:g.70934960G>A							p.L2998L	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			53	9120	-		Ovarian(137;0.0654)	2999					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.8992C>T	CCDS59269.1																																																																																				PASS	0.542	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			24	227	24	227	---	---	---	---
PSMD7	5713	broad.mit.edu	37	16	74338292	74338292	+	Splice_Site	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr16:74338292G>A	ENST00000219313.4	+	6	670	c.530G>A	c.(529-531)cGa>cAa	p.R177Q	PSMD7_ENST00000540379.1_Splice_Site_p.R100Q|PSMD7_ENST00000568615.2_Missense_Mutation_p.R177Q|AC009120.6_ENST00000565313.1_RNA|AC009120.6_ENST00000566411.1_RNA|PSMD7_ENST00000567958.1_Splice_Site_p.R177H	NM_002811.4	NP_002802.2	P51665	PSMD7_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 7	177					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|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 ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	protein homodimerization activity (GO:0042803)	p.R177Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						CACTTGTTACGGTGAGACCCT	0.498																																						uc002fcq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(529-531)CGA>CAA		proteasome 26S non-ATPase subunit 7							109.0	98.0	102.0					16																	74338292		2198	4300	6498	SO:0001630	splice_region_variant	5713				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	g.chr16:74338292G>A	D50063	CCDS10910.1	16q22.3	2010-10-15	2007-07-06		ENSG00000103035	ENSG00000103035		"""Proteasome (prosome, macropain) subunits"""	9565	protein-coding gene	gene with protein product	"""Mov34 homolog"""	157970	"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 (Mov34 homolog)"""			7755639	Standard	NM_002811		Approved	S12, P40, MOV34, Rpn8	uc002fcq.3	P51665	OTTHUMG00000137601	ENST00000219313.4:c.530+1G>A	16.37:g.74338292G>A						PSMD7_uc010vmr.1_Missense_Mutation_p.R100Q	p.R177Q	NM_002811	NP_002802	P51665	PSD7_HUMAN			6	662	+			177					D3DWS9|Q6PKI2|Q96E97	Missense_Mutation	SNP	ENST00000219313.4	37	c.530G>A	CCDS10910.1	.	.	.	.	.	.	.	.	.	.	G	36	5.699254	0.96802	.	.	ENSG00000103035	ENST00000219313;ENST00000540379	T;T	0.56776	0.56;0.44	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.76877	0.4049	H	0.94886	3.595	0.80722	D	1	D	0.71674	0.998	P	0.55749	0.783	D	0.84994	0.0896	10	0.87932	D	0	-10.3627	18.6478	0.91418	0.0:0.0:1.0:0.0	.	177	P51665	PSD7_HUMAN	Q	177;100	ENSP00000219313:R177Q;ENSP00000443925:R100Q	ENSP00000219313:R177Q	R	+	2	0	PSMD7	72895793	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.567000	0.98161	2.475000	0.83589	0.650000	0.86243	CGA		PASS	0.498	PSMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269010.2	NM_002811	Missense_Mutation	4	96	4	96	---	---	---	---
DPEP1	1800	broad.mit.edu	37	16	89702443	89702443	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr16:89702443G>T	ENST00000393092.3	+	3	523	c.232G>T	c.(232-234)Ggc>Tgc	p.G78C	DPEP1_ENST00000261615.4_Missense_Mutation_p.G78C|DPEP1_ENST00000421184.1_Missense_Mutation_p.G78C	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	78					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)	p.G78C(1)		large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CTTTGTGGGAGGCCAGGTACC	0.627																																						uc010cin.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(232-234)GGC>TGC		dipeptidase 1 precursor	Cilastatin(DB01597)						70.0	52.0	58.0					16																	89702443		2179	4285	6464	SO:0001583	missense	1800				proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr16:89702443G>T		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.232G>T	16.37:g.89702443G>T	ENSP00000376807:p.Gly78Cys					DPEP1_uc002fnr.3_Missense_Mutation_p.G78C|DPEP1_uc002fns.3_Missense_Mutation_p.G78C	p.G78C	NM_001128141	NP_001121613	P16444	DPEP1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0258)	3	435	+		all_lung(18;0.0054)|all_hematologic(23;0.094)	78					D3DX80|Q96AK2	Missense_Mutation	SNP	ENST00000393092.3	37	c.232G>T	CCDS10982.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562198	0.65538	.	.	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.25250	1.81;1.81;1.81	5.36	5.36	0.76844	.	0.105878	0.64402	D	0.000005	T	0.48943	0.1528	M	0.86178	2.8	0.54753	D	0.999982	D	0.53462	0.96	P	0.52343	0.696	T	0.58171	-0.7683	10	0.87932	D	0	-11.456	17.8544	0.88758	0.0:0.0:1.0:0.0	.	78	P16444	DPEP1_HUMAN	C	78	ENSP00000397313:G78C;ENSP00000376807:G78C;ENSP00000261615:G78C	ENSP00000261615:G78C	G	+	1	0	DPEP1	88229944	1.000000	0.71417	0.974000	0.42286	0.010000	0.07245	6.774000	0.75012	2.502000	0.84385	0.555000	0.69702	GGC		PASS	0.627	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423058.1	NM_001128141		7	7	7	7	---	---	---	---
SCARF1	8578	broad.mit.edu	37	17	1538212	1538212	+	Missense_Mutation	SNP	C	C	A	rs149977313		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr17:1538212C>A	ENST00000263071.4	-	11	2382	c.2333G>T	c.(2332-2334)cGg>cTg	p.R778L	SCARF1_ENST00000348987.3_Missense_Mutation_p.R692L|SCARF1_ENST00000571272.1_3'UTR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	778	Gly-rich.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.R778L(1)		cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCCCAGCCCCCGGACCGCTTC	0.647																																						uc002fsz.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2332-2334)CGG>CTG		scavenger receptor class F, member 1 isoform 1							46.0	53.0	50.0					17																	1538212		2203	4299	6502	SO:0001583	missense	8578				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity	g.chr17:1538212C>A	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.2333G>T	17.37:g.1538212C>A	ENSP00000263071:p.Arg778Leu					SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Missense_Mutation_p.R692L	p.R778L	NM_003693	NP_003684	Q14162	SREC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	11	2383	-			778			Gly-rich.|Cytoplasmic (Potential).		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	c.2333G>T	CCDS11007.1	.	.	.	.	.	.	.	.	.	.	c	11.71	1.718724	0.30503	.	.	ENSG00000074660	ENST00000263071;ENST00000348987	T;T	0.21361	2.01;2.69	5.25	0.93	0.19454	.	1.060720	0.07449	N	0.898687	T	0.13628	0.0330	N	0.24115	0.695	0.09310	N	1	B;B	0.27498	0.177;0.18	B;B	0.23275	0.045;0.045	T	0.31779	-0.9931	10	0.62326	D	0.03	-2.3029	5.7911	0.18361	0.0:0.6301:0.1378:0.2321	.	692;778	Q14162-2;Q14162	.;SREC_HUMAN	L	778;692	ENSP00000263071:R778L;ENSP00000323964:R692L	ENSP00000263071:R778L	R	-	2	0	SCARF1	1484962	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.168000	0.16622	-0.012000	0.14223	-2.113000	0.00352	CGG		PASS	0.647	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		41	34	41	34	---	---	---	---
MYBBP1A	10514	broad.mit.edu	37	17	4443135	4443135	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr17:4443135C>A	ENST00000254718.4	-	26	3868	c.3562G>T	c.(3562-3564)Gat>Tat	p.D1188Y	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.D1188Y			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1188	Required for nuclear and nucleolar localization. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)	p.D1188Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGCGTGCCATCCTCTGACTTG	0.597																																						uc002fyb.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(3562-3564)GAT>TAT		MYB binding protein 1a isoform 2							101.0	99.0	100.0					17																	4443135		2203	4300	6503	SO:0001583	missense	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4443135C>A	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.3562G>T	17.37:g.4443135C>A	ENSP00000254718:p.Asp1188Tyr					MYBBP1A_uc002fxz.3_Missense_Mutation_p.D1188Y|SPNS2_uc002fxx.2_3'UTR|SPNS2_uc002fxy.2_3'UTR|MYBBP1A_uc002fya.3_Missense_Mutation_p.D133Y|MYBBP1A_uc010vsa.1_Missense_Mutation_p.D230Y	p.D1188Y	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN			26	3624	-			1188			Required for nuclear and nucleolar localization (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.3562G>T	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238720	0.39598	.	.	ENSG00000132382	ENST00000381556;ENST00000254718	T;T	0.17854	2.25;2.25	5.14	3.06	0.35304	.	1.392160	0.04186	N	0.327349	T	0.10895	0.0266	N	0.08118	0	0.09310	N	1	P;P	0.48230	0.85;0.907	B;B	0.41036	0.188;0.346	T	0.19386	-1.0307	10	0.59425	D	0.04	-3.0389	7.289	0.26356	0.0:0.7393:0.169:0.0918	.	1188;1188	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	Y	1188	ENSP00000370968:D1188Y;ENSP00000254718:D1188Y	ENSP00000254718:D1188Y	D	-	1	0	MYBBP1A	4389884	0.003000	0.15002	0.699000	0.30290	0.044000	0.14063	0.119000	0.15626	1.395000	0.46643	0.561000	0.74099	GAT		PASS	0.597	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		93	84	93	84	---	---	---	---
SLC25A11	8402	broad.mit.edu	37	17	4843194	4843194	+	Silent	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr17:4843194C>A	ENST00000225665.7	-	1	352	c.12G>T	c.(10-12)acG>acT	p.T4T	RNF167_ENST00000576229.1_5'Flank|RNF167_ENST00000575111.1_5'Flank|RNF167_ENST00000262482.6_5'Flank|RNF167_ENST00000572430.1_5'Flank|SLC25A11_ENST00000544061.2_Silent_p.T4T|RNF167_ENST00000571816.1_5'Flank	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	4					alpha-ketoglutarate transport (GO:0015742)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxoglutarate:malate antiporter activity (GO:0015367)|poly(A) RNA binding (GO:0044822)	p.T4T(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						CGGCACTCGCCGTCGCCGCCA	0.731																																					Esophageal Squamous(144;1178 2388 18010 48797)	uc002fzo.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(10-12)ACG>ACT		solute carrier family 25 member 11 isoform 1							12.0	13.0	13.0					17																	4843194		2090	4159	6249	SO:0001819	synonymous_variant	8402				gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity	g.chr17:4843194C>A	X66114	CCDS11059.1, CCDS54069.1	17p13.3	2013-05-22			ENSG00000108528	ENSG00000108528		"""Solute carriers"""	10981	protein-coding gene	gene with protein product		604165		SLC20A4		10072597, 1457818	Standard	NM_003562		Approved	OGC	uc002fzo.2	Q02978	OTTHUMG00000099395	ENST00000225665.7:c.12G>T	17.37:g.4843194C>A						SLC25A11_uc002fzp.1_5'UTR|RNF167_uc002fzq.2_5'Flank|RNF167_uc002fzr.2_5'Flank|RNF167_uc002fzs.2_5'Flank|RNF167_uc002fzt.2_5'Flank|RNF167_uc002fzu.2_5'Flank|RNF167_uc002fzv.2_5'Flank|RNF167_uc002fzw.1_5'Flank|RNF167_uc002fzx.2_5'Flank	p.T4T	NM_003562	NP_003553	Q02978	M2OM_HUMAN			1	125	-			4					F5GY65|O75537|Q969P7	Silent	SNP	ENST00000225665.7	37	c.12G>T	CCDS11059.1																																																																																				PASS	0.731	SLC25A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216852.4	NM_003562		3	3	3	3	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577106	7577106	+	Missense_Mutation	SNP	G	G	C	rs17849781		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr17:7577106G>C	ENST00000269305.4	-	8	1021	c.832C>G	c.(832-834)Cct>Gct	p.P278A	TP53_ENST00000445888.2_Missense_Mutation_p.P278A|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.P278A|TP53_ENST00000455263.2_Missense_Mutation_p.P278A|TP53_ENST00000420246.2_Missense_Mutation_p.P278A|TP53_ENST00000413465.2_Intron	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	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTCTCCCAGGACAGGCACAA	0.552		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		131	Substitution - Missense(105)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Insertion - Frameshift(2)|Unknown(2)|Insertion - In frame(1)	p.P278L(52)|p.P278S(48)|p.P278R(26)|p.P278T(21)|p.P278A(18)|p.P278H(11)|p.0?(7)|p.P278fs*67(5)|p.P278F(3)|p.P278fs*28(2)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274_P278del(1)|p.P278P(1)|p.C277_P278insXXXXXXX(1)|p.F270_D281del12(1)|p.P278_G279insXXXXX(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275fs*20(1)	upper_aerodigestive_tract(19)|breast(18)|skin(16)|large_intestine(14)|oesophagus(11)|lung(11)|central_nervous_system(7)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|ovary(4)|bone(4)|kidney(3)|endometrium(3)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|eye(1)|biliary_tract(1)|liver(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM011015|CM052927	TP53	M	rs17849781	c.(832-834)CCT>GCT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							72.0	62.0	65.0					17																	7577106		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577106G>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.832C>G	17.37:g.7577106G>C	ENSP00000269305:p.Pro278Ala	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_Missense_Mutation_p.P278A|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P146A|TP53_uc010cng.1_Missense_Mutation_p.P146A|TP53_uc002gii.1_Missense_Mutation_p.P146A|TP53_uc010cnh.1_Missense_Mutation_p.P278A|TP53_uc010cni.1_Missense_Mutation_p.P278A|TP53_uc002gij.2_Missense_Mutation_p.P278A	p.P278A	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1026	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	278		P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.832C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954842	0.92726	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99880	-7.46;-7.46;-7.46;-7.46;-7.46;-7.46	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	D	0.000000	D	0.99894	0.9949	M	0.88570	2.965	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.97110	0.992;1.0;0.991;0.988	D	0.96234	0.9170	10	0.72032	D	0.01	-13.7877	16.1198	0.81342	0.0:0.0:1.0:0.0	rs17849781	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	A	278;278;278;278;278;267;146	ENSP00000352610:P278A;ENSP00000269305:P278A;ENSP00000398846:P278A;ENSP00000391127:P278A;ENSP00000391478:P278A;ENSP00000425104:P146A	ENSP00000269305:P278A	P	-	1	0	TP53	7517831	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.573000	0.98181	2.667000	0.90743	0.462000	0.41574	CCT		PASS	0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	32	31	32	---	---	---	---
CNTROB	116840	broad.mit.edu	37	17	7851284	7851284	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr17:7851284G>C	ENST00000563694.1	+	15	3121	c.2196G>C	c.(2194-2196)ttG>ttC	p.L732F	CNTROB_ENST00000380262.3_Missense_Mutation_p.L732F|CNTROB_ENST00000565740.1_Missense_Mutation_p.L732F|CNTROB_ENST00000380255.3_3'UTR	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	732	Pro-rich.|Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)	p.L732F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				TCGACCTGTTGCCCCCTAAGT	0.488																																						uc002gjq.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(2194-2196)TTG>TTC		centrobin, centrosomal BRCA2 interacting protein							168.0	166.0	167.0					17																	7851284		2203	4300	6503	SO:0001583	missense	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7851284G>C	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.2196G>C	17.37:g.7851284G>C	ENSP00000456335:p.Leu732Phe					CNTROB_uc002gjp.2_Missense_Mutation_p.L732F|CNTROB_uc002gjr.2_Missense_Mutation_p.L634F	p.L732F	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN			16	3115	+		Prostate(122;0.173)	732			Pro-rich.|Required for centrosome localization.		A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	c.2196G>C	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.748523	0.30955	.	.	ENSG00000170037	ENST00000380262	T	0.38401	1.14	5.65	1.29	0.21616	.	0.000000	0.39544	N	0.001328	T	0.35595	0.0937	N	0.24115	0.695	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.64410	0.925;0.925;0.925	T	0.19811	-1.0294	10	0.87932	D	0	-0.7284	4.5609	0.12160	0.1635:0.0:0.5286:0.3079	.	732;732;732	Q8N137-3;Q8N137;Q8N137-2	.;CNTRB_HUMAN;.	F	732	ENSP00000369614:L732F	ENSP00000369614:L732F	L	+	3	2	CNTROB	7792009	0.674000	0.27549	0.855000	0.33649	0.210000	0.24377	0.495000	0.22483	0.484000	0.27630	0.655000	0.94253	TTG		PASS	0.488	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		177	171	177	171	---	---	---	---
ARHGEF15	22899	broad.mit.edu	37	17	8221893	8221893	+	Silent	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr17:8221893C>A	ENST00000361926.3	+	11	1895	c.1785C>A	c.(1783-1785)atC>atA	p.I595I	ARHGEF15_ENST00000421050.1_Silent_p.I595I|AC135178.7_ENST00000458568.1_RNA	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	595	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I595I(2)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCTAGATCATCGAGCGTTGCA	0.597																																						uc002glc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(1783-1785)ATC>ATA		Rho guanine exchange factor 15							59.0	59.0	59.0					17																	8221893		2203	4300	6503	SO:0001819	synonymous_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8221893C>A	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1785C>A	17.37:g.8221893C>A						ARHGEF15_uc002gld.2_Silent_p.I595I|ARHGEF15_uc010vuw.1_Silent_p.I484I	p.I595I	NM_173728	NP_776089	O94989	ARHGF_HUMAN			11	1906	+			595			DH.		A8K6G1|Q8N449|Q9H8B4	Silent	SNP	ENST00000361926.3	37	c.1785C>A	CCDS11139.1																																																																																				PASS	0.597	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		35	38	35	38	---	---	---	---
FLCN	201163	broad.mit.edu	37	17	17129541	17129541	+	Silent	SNP	G	G	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr17:17129541G>C	ENST00000285071.4	-	5	799	c.345C>G	c.(343-345)ccC>ccG	p.P115P	FLCN_ENST00000389169.5_Silent_p.P115P|RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	115					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)	p.P115P(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGAAGAGCTGGGGGTGGCTGG	0.607									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																													uc002gra.3																			2	Substitution - coding silent(2)		lung(2)	thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3						c.(343-345)CCC>CCG		folliculin isoform 1							80.0	81.0	81.0					17																	17129541		2203	4300	6503	SO:0001819	synonymous_variant	201163	Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	g.chr17:17129541G>C	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.345C>G	17.37:g.17129541G>C						PLD6_uc010cpn.2_Intron|FLCN_uc002grb.3_Silent_p.P115P|FLCN_uc002grc.2_Silent_p.P115P	p.P115P	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN			5	849	-			115					A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Silent	SNP	ENST00000285071.4	37	c.345C>G	CCDS32579.1																																																																																				PASS	0.607	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	NM_144606		24	38	24	38	---	---	---	---
TRAF4	9618	broad.mit.edu	37	17	27076391	27076391	+	Silent	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr17:27076391C>T	ENST00000262395.5	+	7	1338	c.1209C>T	c.(1207-1209)caC>caT	p.H403H	TRAF4_ENST00000262396.6_Intron|AC010761.9_ENST00000577325.1_RNA|AC010761.10_ENST00000579468.1_RNA|TRAF4_ENST00000444415.3_Intron	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	403	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)	p.H403H(1)		endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			AACCACAGCACGTCACTGAGA	0.587																																						uc002hcs.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)	2						c.(1207-1209)CAC>CAT		TNF receptor-associated factor 4							65.0	58.0	61.0					17																	27076391		2203	4300	6503	SO:0001819	synonymous_variant	9618				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding	g.chr17:27076391C>T	X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"""RING-type (C3HC4) zinc fingers"""	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.1209C>T	17.37:g.27076391C>T						TRAF4_uc002hcq.1_Intron	p.H403H	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)		7	1317	+	Lung NSC(42;0.01)		403			MATH.		O75615|Q14848|Q2KJU4|Q2PJN8	Silent	SNP	ENST00000262395.5	37	c.1209C>T	CCDS11243.1																																																																																				PASS	0.587	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2	NM_145751		12	63	12	63	---	---	---	---
MYO18A	399687	broad.mit.edu	37	17	27425444	27425444	+	Missense_Mutation	SNP	C	C	G	rs568992850		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr17:27425444C>G	ENST00000527372.1	-	24	3980	c.3800G>C	c.(3799-3801)cGg>cCg	p.R1267P	MYO18A_ENST00000533112.1_Missense_Mutation_p.R1267P|MYO18A_ENST00000354329.4_Missense_Mutation_p.R1267P|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1267P	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1267					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.R1267P(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GAGCTTGCTCCGCAGCTGCTG	0.627																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1																			2	Substitution - Missense(2)		lung(2)		0						c.(3799-3801)CGG>CCG		myosin 18A isoform a							46.0	47.0	47.0					17																	27425444		2061	4198	6259	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27425444C>G	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.3800G>C	17.37:g.27425444C>G	ENSP00000437073:p.Arg1267Pro					MYO18A_uc010wbc.1_Missense_Mutation_p.R809P|MYO18A_uc002hds.2_Missense_Mutation_p.R809P|MYO18A_uc010csa.1_Missense_Mutation_p.R1267P|MYO18A_uc002hdu.1_Missense_Mutation_p.R1267P|MYO18A_uc010wbd.1_Missense_Mutation_p.R936P	p.R1267P	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		24	3958	-			1267			Potential.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.3800G>C	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341254	0.60963	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	T;D;T;T	0.88896	-1.2;-2.44;-1.2;-1.2	5.53	4.56	0.56223	Myosin tail (1);	0.100986	0.64402	D	0.000005	D	0.90696	0.7081	L	0.60455	1.87	0.35270	D	0.780406	P;P;P;P;B	0.51240	0.867;0.943;0.943;0.943;0.278	P;P;P;P;B	0.60173	0.87;0.496;0.593;0.496;0.243	D	0.92597	0.6088	10	0.87932	D	0	.	6.6426	0.22917	0.0:0.6962:0.0:0.3038	.	936;879;1267;1267;1267	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	P	1267;1267;1267;1267;1267;163;163;879	ENSP00000346291:R1267P;ENSP00000435932:R1267P;ENSP00000434228:R1267P;ENSP00000437073:R1267P	ENSP00000346291:R1267P	R	-	2	0	MYO18A	24449570	0.541000	0.26417	0.995000	0.50966	0.997000	0.91878	1.465000	0.35299	1.326000	0.45319	0.655000	0.94253	CGG		PASS	0.627	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		21	21	21	21	---	---	---	---
TMIGD1	388364	broad.mit.edu	37	17	28656433	28656433	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr17:28656433A>G	ENST00000328886.4	-	3	269	c.197T>C	c.(196-198)cTc>cCc	p.L66P	TMIGD1_ENST00000538566.2_Missense_Mutation_p.L66P	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	66	Ig-like C2-type 1.					integral component of membrane (GO:0016021)		p.L66P(1)		breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						TCGGTACCAGAGCAGTTCTTC	0.448																																						uc002hfa.1																			1	Substitution - Missense(1)		lung(1)		0						c.(196-198)CTC>CCC		transmembrane and immunoglobulin domain							120.0	109.0	112.0					17																	28656433		2203	4300	6503	SO:0001583	missense	388364					integral to membrane		g.chr17:28656433A>G	AY358153	CCDS32605.1	17q11.2	2013-01-29	2006-07-05	2006-07-05		ENSG00000182271		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32431	protein-coding gene	gene with protein product				TMIGD		12975309	Standard	NM_206832		Approved	UNQ9372	uc002hfa.1	Q6UXZ0		ENST00000328886.4:c.197T>C	17.37:g.28656433A>G	ENSP00000332404:p.Leu66Pro					TMIGD1_uc010csh.1_Missense_Mutation_p.L66P	p.L66P	NM_206832	NP_996663	Q6UXZ0	TMIG1_HUMAN			3	270	-			66			Extracellular (Potential).|Ig-like C2-type 1.		A8K2K1|Q6ZMC6	Missense_Mutation	SNP	ENST00000328886.4	37	c.197T>C	CCDS32605.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.002200	0.74932	.	.	ENSG00000182271	ENST00000328886;ENST00000538566	T;T	0.12774	2.65;2.65	5.52	5.52	0.82312	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.207947	0.42548	D	0.000698	T	0.36663	0.0975	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.977	T	0.07790	-1.0754	10	0.51188	T	0.08	-9.4253	14.8195	0.70062	1.0:0.0:0.0:0.0	.	66;66	Q6UXZ0-2;Q6UXZ0	.;TMIG1_HUMAN	P	66	ENSP00000332404:L66P;ENSP00000446118:L66P	ENSP00000332404:L66P	L	-	2	0	TMIGD1	25680559	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.365000	0.59486	2.091000	0.63221	0.472000	0.43445	CTC		PASS	0.448	TMIGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447955.1	NM_206832		67	103	67	103	---	---	---	---
SP2	6668	broad.mit.edu	37	17	46005109	46005109	+	Silent	SNP	C	C	T	rs75562971	byFrequency	TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr17:46005109C>T	ENST00000376741.4	+	7	1898	c.1761C>T	c.(1759-1761)tgC>tgT	p.C587C	AC003665.1_ENST00000451140.2_RNA|RP11-6N17.3_ENST00000584276.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	587					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)	p.C587C(1)		endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						GCTTCGAGTGCGCCCAGTGTC	0.587													C|||	16	0.00319489	0.0121	0.0	5008	,	,		18184	0.0		0.0	False		,,,				2504	0.0					uc002imk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1759-1761)TGC>TGT		Sp2 transcription factor		C		29,4377		0,29,2174	83.0	65.0	71.0		1761	-3.2	1.0	17	dbSNP_132	71	1,8597		0,1,4298	no	coding-synonymous	SP2	NM_003110.5		0,30,6472	TT,TC,CC		0.0116,0.6582,0.2307		587/614	46005109	30,12974	2203	4299	6502	SO:0001819	synonymous_variant	6668				immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding	g.chr17:46005109C>T		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.1761C>T	17.37:g.46005109C>T						SP2_uc002iml.2_Silent_p.C580C	p.C587C	NM_003110	NP_003101	Q02086	SP2_HUMAN			7	1898	+			587			C2H2-type 3.		A6NK74	Silent	SNP	ENST00000376741.4	37	c.1761C>T	CCDS11521.2																																																																																				PASS	0.587	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		2	3	2	3	---	---	---	---
GH2	2689	broad.mit.edu	37	17	61959155	61959155	+	Missense_Mutation	SNP	C	C	T	rs148779841		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr17:61959155C>T	ENST00000423893.2	-	1	68	c.7G>A	c.(7-9)Gca>Aca	p.A3T	GH2_ENST00000332800.7_Missense_Mutation_p.A3T|GH2_ENST00000449787.2_Missense_Mutation_p.A3T|GH2_ENST00000456543.2_Missense_Mutation_p.A3T			P01242	SOM2_HUMAN	growth hormone 2	3					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.A3T(2)		breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						CGCTTACCTGCAGCCATTGCC	0.597																																						uc002jco.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|pancreas(1)	3						c.(7-9)GCA>ACA		growth hormone 2 isoform 1							77.0	77.0	77.0					17																	61959155		2203	4298	6501	SO:0001583	missense	2689					extracellular region	hormone activity	g.chr17:61959155C>T	J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"""Endogenous ligands"""	4262	protein-coding gene	gene with protein product	"""placental-specific growth hormone"", ""placenta-specific growth hormone"""	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.7G>A	17.37:g.61959155C>T	ENSP00000409294:p.Ala3Thr					GH2_uc002jcj.2_Missense_Mutation_p.A3T|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_Missense_Mutation_p.A3T|GH2_uc002jcm.1_Missense_Mutation_p.A3T|GH2_uc002jcn.1_Missense_Mutation_p.A3T	p.A3T	NM_002059	NP_002050	P01242	SOM2_HUMAN			1	69	-			3					B1A4H5|B1A4H7|O14643|O14644|P09587	Missense_Mutation	SNP	ENST00000423893.2	37	c.7G>A	CCDS11647.1	.	.	.	.	.	.	.	.	.	.	c	14.11	2.437770	0.43326	.	.	ENSG00000136487	ENST00000332800;ENST00000456543;ENST00000423893;ENST00000449787	D;D;D;D	0.87966	-2.27;-2.32;-2.29;-2.27	2.81	0.324	0.15898	.	2.162650	0.02469	N	0.087359	D	0.84419	0.5468	M	0.61703	1.905	0.19775	N	0.999958	B;B;B;B;B	0.24317	0.001;0.0;0.005;0.101;0.001	B;B;B;B;B	0.23574	0.004;0.002;0.007;0.047;0.004	T	0.65520	-0.6148	10	0.48119	T	0.1	.	3.8655	0.09015	0.0:0.5946:0.2501:0.1553	.	3;3;3;3;3	P01242;O14643;O14644;B1A4H7;B1A4H5	SOM2_HUMAN;.;.;.;.	T	3	ENSP00000333157:A3T;ENSP00000394122:A3T;ENSP00000409294:A3T;ENSP00000410618:A3T	ENSP00000333157:A3T	A	-	1	0	GH2	59312887	0.465000	0.25815	0.996000	0.52242	0.174000	0.22865	-0.755000	0.04782	0.463000	0.27118	0.313000	0.20887	GCA		PASS	0.597	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059		4	126	4	126	---	---	---	---
LRRC37A3	374819	broad.mit.edu	37	17	62856503	62856503	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr17:62856503C>G	ENST00000584306.1	-	11	4291	c.3761G>C	c.(3760-3762)gGc>gCc	p.G1254A	LRRC37A3_ENST00000334962.5_Missense_Mutation_p.G231A|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.G292A|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.G372A|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.G1254A	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1254						integral component of membrane (GO:0016021)		p.G1254A(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGAAGGCGCGCCCTTGGAGAA	0.532																																						uc002jey.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3760-3762)GGC>GCC		leucine rich repeat containing 37, member A3							39.0	43.0	42.0					17																	62856503		2203	4292	6495	SO:0001583	missense	374819					integral to membrane		g.chr17:62856503C>G	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.3761G>C	17.37:g.62856503C>G	ENSP00000464535:p.Gly1254Ala					LRRC37A3_uc010wqg.1_Missense_Mutation_p.G372A|LRRC37A3_uc002jex.1_Missense_Mutation_p.G231A|LRRC37A3_uc010wqf.1_Missense_Mutation_p.G292A|LRRC37A3_uc010dek.1_Missense_Mutation_p.G260A	p.G1254A	NM_199340	NP_955372	O60309	L37A3_HUMAN			11	4292	-			1254			Extracellular (Potential).		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	c.3761G>C	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	10.53	1.376535	0.24857	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.62639	1.28;1.27;0.01	2.23	1.2	0.21068	.	.	.	.	.	T	0.66336	0.2779	L	0.45228	1.405	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.75020	0.985;0.981	T	0.52859	-0.8519	9	0.66056	D	0.02	.	4.16	0.10278	0.0:0.7684:0.0:0.2316	.	372;1254	B4DG20;O60309	.;L37A3_HUMAN	A	335;292;231;1254	ENSP00000383674:G292A;ENSP00000335617:G231A;ENSP00000325713:G1254A	ENSP00000325713:G1254A	G	-	2	0	LRRC37A3	60286965	0.002000	0.14202	0.022000	0.16811	0.016000	0.09150	1.168000	0.31859	0.244000	0.21351	0.298000	0.19748	GGC		PASS	0.532	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		107	58	107	58	---	---	---	---
ABCA9	10350	broad.mit.edu	37	17	67041417	67041417	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr17:67041417G>C	ENST00000340001.4	-	4	576	c.365C>G	c.(364-366)tCa>tGa	p.S122*	ABCA9_ENST00000453985.2_Nonsense_Mutation_p.S122*|ABCA9_ENST00000495634.1_Nonsense_Mutation_p.S122*|ABCA9_ENST00000370732.2_Nonsense_Mutation_p.S122*	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	122					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S122*(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TGCGTCTATTGAATAGTTCAA	0.393																																						uc002jhu.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(364-366)TCA>TGA		ATP-binding cassette, sub-family A, member 9							152.0	144.0	147.0					17																	67041417		2203	4300	6503	SO:0001587	stop_gained	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67041417G>C	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.365C>G	17.37:g.67041417G>C	ENSP00000342216:p.Ser122*					ABCA9_uc010dez.2_Nonsense_Mutation_p.S122*|ABCA9_uc002jhv.2_Nonsense_Mutation_p.S122*	p.S122*	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			4	508	-	Breast(10;1.47e-12)		122					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Nonsense_Mutation	SNP	ENST00000340001.4	37	c.365C>G	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534968	0.45073	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	.	.	.	4.39	4.39	0.52855	.	0.394398	0.18563	U	0.137544	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	12.6291	0.56646	0.0:0.0:1.0:0.0	.	.	.	.	X	122;105;122;117	.	ENSP00000342216:S122X	S	-	2	0	ABCA9	64553012	0.008000	0.16893	0.042000	0.18584	0.002000	0.02628	1.277000	0.33167	2.426000	0.82243	0.591000	0.81541	TCA		PASS	0.393	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		133	80	133	80	---	---	---	---
ABCA6	23460	broad.mit.edu	37	17	67132311	67132311	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr17:67132311T>C	ENST00000284425.2	-	4	556	c.382A>G	c.(382-384)Atc>Gtc	p.I128V	ABCA6_ENST00000590645.1_Missense_Mutation_p.I128V	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	128					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.I128V(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TCATTAAAGATGATTCCCATA	0.333																																						uc002jhw.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7						c.(382-384)ATC>GTC		ATP-binding cassette, sub-family A, member 6							56.0	53.0	54.0					17																	67132311		2200	4296	6496	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67132311T>C	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.382A>G	17.37:g.67132311T>C	ENSP00000284425:p.Ile128Val					ABCA6_uc002jhy.2_Missense_Mutation_p.I126V	p.I128V	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			4	557	-	Breast(10;5.65e-12)		128					Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.382A>G	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	T	0.612	-0.824492	0.02755	.	.	ENSG00000154262	ENST00000284425	D	0.85955	-2.05	5.15	-1.0	0.10196	.	0.405345	0.20362	N	0.093840	T	0.71904	0.3395	L	0.28014	0.82	0.23834	N	0.996713	P;B	0.35894	0.526;0.009	B;B	0.41374	0.355;0.028	T	0.63730	-0.6571	10	0.05351	T	0.99	.	8.95	0.35783	0.0:0.4355:0.0:0.5645	.	128;128	Q8N139-3;Q8N139	.;ABCA6_HUMAN	V	128	ENSP00000284425:I128V	ENSP00000284425:I128V	I	-	1	0	ABCA6	64643906	0.034000	0.19679	0.801000	0.32222	0.093000	0.18481	-0.234000	0.09028	-0.409000	0.07553	-0.256000	0.11100	ATC		PASS	0.333	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		41	24	41	24	---	---	---	---
ABCA5	23461	broad.mit.edu	37	17	67273892	67273892	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr17:67273892T>A	ENST00000392676.3	-	19	2548	c.2484A>T	c.(2482-2484)gaA>gaT	p.E828D	ABCA5_ENST00000392677.2_Missense_Mutation_p.E828D|ABCA5_ENST00000588877.1_Missense_Mutation_p.E828D			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	828					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E828D(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	CAGCCTTGGTTTCAGAAAGAA	0.368																																						uc002jif.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2482-2484)GAA>GAT		ATP-binding cassette, sub-family A , member 5							85.0	81.0	82.0					17																	67273892		2202	4298	6500	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67273892T>A	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.2484A>T	17.37:g.67273892T>A	ENSP00000376443:p.Glu828Asp					ABCA5_uc002jic.2_Missense_Mutation_p.E51D|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.E828D|ABCA5_uc002jih.2_Missense_Mutation_p.E828D|ABCA5_uc010dfe.2_Missense_Mutation_p.E828D	p.E828D	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN			18	3702	-	Breast(10;3.72e-11)		828					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.2484A>T	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	T	14.46	2.540632	0.45280	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.86865	-2.18;-2.18	5.73	4.63	0.57726	.	0.000000	0.64402	D	0.000002	T	0.81297	0.4793	L	0.46157	1.445	0.42876	D	0.994155	B;B	0.14805	0.011;0.007	B;B	0.19148	0.024;0.011	T	0.73655	-0.3914	9	.	.	.	.	9.1016	0.36671	0.0:0.1511:0.0:0.8489	.	828;828	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	D	828	ENSP00000376444:E828D;ENSP00000376443:E828D	.	E	-	3	2	ABCA5	64785487	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	1.918000	0.40006	1.067000	0.40740	0.533000	0.62120	GAA		PASS	0.368	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		80	55	80	55	---	---	---	---
TRIM47	91107	broad.mit.edu	37	17	73870924	73870924	+	Silent	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr17:73870924G>A	ENST00000254816.2	-	6	1583	c.1557C>T	c.(1555-1557)tcC>tcT	p.S519S	RP11-552F3.9_ENST00000586076.1_RNA|TRIM47_ENST00000587339.1_Silent_p.S281S	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	519	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.S519S(1)		autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCAGGCAGCAGGAGTGGGCGT	0.662																																						uc002jpw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|prostate(1)|lung(1)|breast(1)	5						c.(1555-1557)TCC>TCT		tripartite motif-containing 47							52.0	59.0	57.0					17																	73870924		2203	4299	6502	SO:0001819	synonymous_variant	91107					cytoplasm|nucleus	zinc ion binding	g.chr17:73870924G>A	AY026763	CCDS32737.1	17q25	2013-01-09	2011-01-25			ENSG00000132481		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19020	protein-coding gene	gene with protein product		611041	"""tripartite motif-containing 47"""				Standard	NM_033452		Approved	GOA, RNF100	uc002jpw.3	Q96LD4		ENST00000254816.2:c.1557C>T	17.37:g.73870924G>A						TRIM47_uc002jpv.2_Silent_p.S281S	p.S519S	NM_033452	NP_258411	Q96LD4	TRI47_HUMAN	Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		6	1584	-			519			B30.2/SPRY.		Q96AD0|Q96GU5|Q9BRN7	Silent	SNP	ENST00000254816.2	37	c.1557C>T	CCDS32737.1																																																																																				PASS	0.662	TRIM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448934.1			82	44	82	44	---	---	---	---
DSC2	1824	broad.mit.edu	37	18	28666569	28666569	+	Silent	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr18:28666569G>T	ENST00000280904.6	-	7	1355	c.912C>A	c.(910-912)atC>atA	p.I304I	DSC2_ENST00000251081.6_Silent_p.I304I	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	304	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I304I(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ATGTTGTGGTGATCACGCCTG	0.448																																						uc002kwl.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(910-912)ATC>ATA		desmocollin 2 isoform Dsc2a preproprotein							315.0	273.0	287.0					18																	28666569		2203	4300	6503	SO:0001819	synonymous_variant	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28666569G>T	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.912C>A	18.37:g.28666569G>T						DSC2_uc002kwk.3_Silent_p.I304I	p.I304I	NM_024422	NP_077740	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		7	1366	-			304			Extracellular (Potential).|Cadherin 2.			Silent	SNP	ENST00000280904.6	37	c.912C>A	CCDS11892.1																																																																																				PASS	0.448	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		85	111	85	111	---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31323717	31323717	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr18:31323717G>T	ENST00000269197.5	+	12	3905	c.3905G>T	c.(3904-3906)aGc>aTc	p.S1302I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1302	Ser-rich.				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.S1302I(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGTATTGAAAGCACTCCCATT	0.408																																						uc010dmg.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(3904-3906)AGC>ATC		additional sex combs like 3							107.0	106.0	107.0					18																	31323717		1957	4162	6119	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31323717G>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3905G>T	18.37:g.31323717G>T	ENSP00000269197:p.Ser1302Ile					ASXL3_uc002kxq.2_Missense_Mutation_p.S1009I	p.S1302I	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	3960	+			1302			Ser-rich.		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.3905G>T	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424441	0.25639	.	.	ENSG00000141431	ENST00000269197	T	0.14893	2.47	5.92	1.73	0.24493	.	.	.	.	.	T	0.09555	0.0235	N	0.19112	0.55	0.23624	N	0.99727	P	0.43169	0.8	B	0.34722	0.188	T	0.16541	-1.0399	9	0.59425	D	0.04	.	8.5099	0.33211	0.7853:0.0:0.2147:0.0	.	1302	Q9C0F0	ASXL3_HUMAN	I	1302	ENSP00000269197:S1302I	ENSP00000269197:S1302I	S	+	2	0	ASXL3	29577715	1.000000	0.71417	0.088000	0.20740	0.887000	0.51463	2.680000	0.46918	0.078000	0.16900	-0.136000	0.14681	AGC		PASS	0.408	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			56	89	56	89	---	---	---	---
AZU1	566	broad.mit.edu	37	19	828343	828343	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:828343C>T	ENST00000233997.2	+	2	193	c.172C>T	c.(172-174)Cat>Tat	p.H58Y		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	58	Hydrophobic.|Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.|Possesses antibiotic activity.				cellular extravasation (GO:0045123)|defense response to Gram-negative bacterium (GO:0050829)|glial cell migration (GO:0008347)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|macrophage chemotaxis (GO:0048246)|microglial cell activation (GO:0001774)|monocyte activation (GO:0042117)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fractalkine biosynthetic process (GO:0050754)|positive regulation of interleukin-1 beta biosynthetic process (GO:0050725)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of vascular permeability (GO:0043114)	azurophil granule (GO:0042582)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)|toxic substance binding (GO:0015643)	p.H58Y(1)		NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TGCCCTGATCCATGCCCGCTT	0.657																																						uc002lpz.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(172-174)CAT>TAT		azurocidin 1 preproprotein							43.0	49.0	47.0					19																	828343		2202	4296	6498	SO:0001583	missense	566				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding	g.chr19:828343C>T	X58794	CCDS12044.1	19p13.3	2012-03-30	2008-08-01		ENSG00000172232	ENSG00000172232			913	protein-coding gene	gene with protein product	"""cationic antimicrobial protein 37"", ""heparin-binding protein"", ""neutrophil azurocidin"""	162815				1919011	Standard	NM_001700		Approved	AZU, CAP37, AZAMP, HBP, NAZC, HUMAZUR	uc002lpz.1	P20160		ENST00000233997.2:c.172C>T	19.37:g.828343C>T	ENSP00000233997:p.His58Tyr						p.H58Y	NM_001700	NP_001691	P20160	CAP7_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	188	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	58			Peptidase S1.|Hydrophobic.|Possesses antibiotic activity.		P80014|Q52LG4|Q9UCM1|Q9UCT5	Missense_Mutation	SNP	ENST00000233997.2	37	c.172C>T	CCDS12044.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786738	0.31593	.	.	ENSG00000172232	ENST00000334630;ENST00000233997	D	0.93189	-3.18	2.25	1.13	0.20643	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.95765	0.8622	M	0.85542	2.76	0.09310	N	1	D	0.89917	1.0	D	0.71870	0.975	D	0.87856	0.2661	9	0.62326	D	0.03	.	6.0	0.19515	0.3068:0.6932:0.0:0.0	.	58	P20160	CAP7_HUMAN	Y	72;58	ENSP00000233997:H58Y	ENSP00000233997:H58Y	H	+	1	0	AZU1	779343	0.002000	0.14202	0.007000	0.13788	0.069000	0.16628	0.203000	0.17315	0.243000	0.21327	0.511000	0.50034	CAT		PASS	0.657	AZU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457472.2	NM_001700		48	91	48	91	---	---	---	---
ABCA7	10347	broad.mit.edu	37	19	1056969	1056969	+	Silent	SNP	G	G	A	rs371808878		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:1056969G>A	ENST00000263094.6	+	34	4881	c.4650G>A	c.(4648-4650)ccG>ccA	p.P1550P	ABCA7_ENST00000433129.1_Silent_p.P1550P|ABCA7_ENST00000435683.2_Silent_p.P1412P	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1550					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.P1550P(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		CCTTTGTCCCGGCCAGCTTCA	0.597																																						uc002lqw.3																			1	Substitution - coding silent(1)		lung(1)	pancreas(7)|ovary(1)|central_nervous_system(1)	9						c.(4648-4650)CCG>CCA		ATP-binding cassette, sub-family A, member 7		G		0,4406		0,0,2203	212.0	161.0	178.0		4650	-3.8	1.0	19		178	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ABCA7	NM_019112.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1550/2147	1056969	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1056969G>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.4650G>A	19.37:g.1056969G>A						ABCA7_uc002lqy.2_Silent_p.P21P|ABCA7_uc010dsc.2_5'Flank	p.P1550P	NM_019112	NP_061985	Q8IZY2	ABCA7_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)	34	4881	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	1550			Helical; (Potential).		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.4650G>A	CCDS12055.1																																																																																				PASS	0.597	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		6	179	6	179	---	---	---	---
C19orf35	374872	broad.mit.edu	37	19	2279031	2279031	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:2279031A>G	ENST00000342063.3	-	3	257	c.164T>C	c.(163-165)cTg>cCg	p.L55P		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	55								p.L55P(1)		large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		GGGTGGGGGCAGGGGCTCTGG	0.677																																						uc002lvn.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(163-165)CTG>CCG		hypothetical protein LOC374872							11.0	11.0	11.0					19																	2279031		2182	4284	6466	SO:0001583	missense	374872							g.chr19:2279031A>G	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.164T>C	19.37:g.2279031A>G	ENSP00000345102:p.Leu55Pro					SPPL2B_uc010dsw.1_Intron	p.L55P	NM_198532	NP_940934	Q6ZS72	CS035_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)	3	264	-			55						Missense_Mutation	SNP	ENST00000342063.3	37	c.164T>C	CCDS12087.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.018505	0.35606	.	.	ENSG00000188305	ENST00000342063	T	0.15603	2.41	2.31	1.24	0.21308	.	.	.	.	.	T	0.23171	0.0560	L	0.60455	1.87	0.39866	D	0.973444	P	0.41498	0.752	P	0.50708	0.648	T	0.04140	-1.0974	9	0.42905	T	0.14	.	5.2585	0.15559	0.8419:0.0:0.1581:0.0	.	55	Q6ZS72	CS035_HUMAN	P	55	ENSP00000345102:L55P	ENSP00000345102:L55P	L	-	2	0	C19orf35	2230031	0.002000	0.14202	0.855000	0.33649	0.728000	0.41692	-0.002000	0.12924	0.144000	0.18951	0.374000	0.22700	CTG		PASS	0.677	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	NM_198532		3	12	3	12	---	---	---	---
MYO1F	4542	broad.mit.edu	37	19	8595448	8595448	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:8595448G>T	ENST00000338257.8	-	20	2320	c.2053C>A	c.(2053-2055)Ctg>Atg	p.L685M		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	685	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)	p.L685M(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						ACCTCCTCCAGGAGGAAAAGC	0.647																																						uc002mkg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2053-2055)CTG>ATG		myosin IF							54.0	58.0	56.0					19																	8595448		1950	4129	6079	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8595448G>T	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2053C>A	19.37:g.8595448G>T	ENSP00000344871:p.Leu685Met						p.L685M	NM_012335	NP_036467	O00160	MYO1F_HUMAN			20	2167	-			685					Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.2053C>A	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.906351	0.72868	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.96940	-4.18	5.36	2.09	0.27110	Myosin head, motor domain (1);	0.000000	0.64402	D	0.000007	D	0.98115	0.9378	M	0.92507	3.315	0.54753	D	0.999984	D	0.89917	1.0	D	0.87578	0.998	D	0.97924	1.0316	10	0.72032	D	0.01	.	10.2213	0.43198	0.2121:0.0:0.7879:0.0	.	685	O00160	MYO1F_HUMAN	M	730;685	ENSP00000344871:L685M	ENSP00000304899:L730M	L	-	1	2	MYO1F	8501448	0.974000	0.33945	0.999000	0.59377	0.961000	0.63080	1.694000	0.37752	1.273000	0.44346	0.555000	0.69702	CTG		PASS	0.647	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			70	130	70	130	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9058097	9058097	+	Silent	SNP	A	A	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:9058097A>T	ENST00000397910.4	-	3	29552	c.29349T>A	c.(29347-29349)tcT>tcA	p.S9783S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9785	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.S9783S(1)|p.S5416S(1)		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						TCAAATTTGGAGATGAACTGG	0.483																																						uc002mkp.2																			2	Substitution - coding silent(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(29347-29349)TCT>TCA		mucin 16							68.0	65.0	66.0					19																	9058097		1902	4128	6030	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058097A>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.29349T>A	19.37:g.9058097A>T							p.S9783S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	29553	-			9785			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.29349T>A	CCDS54212.1																																																																																				PASS	0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		30	59	30	59	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9068679	9068679	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:9068679G>T	ENST00000397910.4	-	3	18970	c.18767C>A	c.(18766-18768)aCc>aAc	p.T6256N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6258	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.T6256N(2)|p.T1889N(1)		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						CAGTGTAGGGGTGGGTACTGA	0.493																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(18766-18768)ACC>AAC		mucin 16							120.0	116.0	117.0					19																	9068679		2015	4187	6202	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9068679G>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.18767C>A	19.37:g.9068679G>T	ENSP00000381008:p.Thr6256Asn						p.T6256N	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	18971	-			6258			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.18767C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.605	-0.080794	0.07141	.	.	ENSG00000181143	ENST00000397910	T	0.27557	1.66	1.78	0.692	0.18050	.	.	.	.	.	T	0.29652	0.0740	L	0.40543	1.245	.	.	.	D	0.62365	0.991	P	0.51895	0.683	T	0.35798	-0.9774	8	0.87932	D	0	.	4.0168	0.09647	0.2314:0.0:0.7686:0.0	.	6256	B5ME49	.	N	6256	ENSP00000381008:T6256N	ENSP00000381008:T6256N	T	-	2	0	MUC16	8929679	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.488000	0.06497	0.282000	0.22254	0.174000	0.16983	ACC		PASS	0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		52	143	52	143	---	---	---	---
DNAJB1	3337	broad.mit.edu	37	19	14627579	14627579	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:14627579A>G	ENST00000254322.2	-	2	561	c.491T>C	c.(490-492)gTc>gCc	p.V164A	DNAJB1_ENST00000396969.4_Missense_Mutation_p.V64A	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	164					chaperone cofactor-dependent protein refolding (GO:0070389)|chaperone mediated protein folding requiring cofactor (GO:0051085)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|unfolded protein binding (GO:0051082)	p.V164A(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		GTCGTGGGTGACTGGGGGATC	0.562																																						uc002myz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(490-492)GTC>GCC		DnaJ (Hsp40) homolog, subfamily B, member 1							108.0	110.0	110.0					19																	14627579		2203	4300	6503	SO:0001583	missense	3337				chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding	g.chr19:14627579A>G	D49547	CCDS12312.1, CCDS74295.1	19p13.12	2014-08-12			ENSG00000132002	ENSG00000132002		"""Heat shock proteins / DNAJ (HSP40)"""	5270	protein-coding gene	gene with protein product	"""radial spoke 16 homolog B (Chlamydomonas)"""	604572		HSPF1		8975727, 8250930	Standard	XM_006722733		Approved	Hsp40, Sis1, RSPH16B	uc002myz.1	P25685	OTTHUMG00000183289	ENST00000254322.2:c.491T>C	19.37:g.14627579A>G	ENSP00000254322:p.Val164Ala					DNAJB1_uc010xnr.1_Missense_Mutation_p.V64A	p.V164A	NM_006145	NP_006136	P25685	DNJB1_HUMAN		GBM - Glioblastoma multiforme(1328;0.0476)	2	531	-			164					B4DX52	Missense_Mutation	SNP	ENST00000254322.2	37	c.491T>C	CCDS12312.1	.	.	.	.	.	.	.	.	.	.	a	24.2	4.503637	0.85176	.	.	ENSG00000132002	ENST00000254322;ENST00000396969	D;D	0.82893	-1.66;-1.66	4.83	4.83	0.62350	HSP40/DnaJ peptide-binding (1);	0.132026	0.50627	D	0.000117	D	0.83440	0.5255	M	0.83603	2.65	0.80722	D	1	B	0.29766	0.256	B	0.28553	0.091	D	0.84266	0.0486	10	0.87932	D	0	.	12.3676	0.55236	1.0:0.0:0.0:0.0	.	164	P25685	DNJB1_HUMAN	A	164;64	ENSP00000254322:V164A;ENSP00000444212:V64A	ENSP00000254322:V164A	V	-	2	0	DNAJB1	14488579	1.000000	0.71417	0.983000	0.44433	0.892000	0.51952	9.035000	0.93752	1.799000	0.52666	0.459000	0.35465	GTC		PASS	0.562	DNAJB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465987.1	NM_006145		81	260	81	260	---	---	---	---
CLEC17A	388512	broad.mit.edu	37	19	14698495	14698495	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:14698495C>G	ENST00000417570.1	+	3	229	c.191C>G	c.(190-192)cCc>cGc	p.P64R	RN7SL842P_ENST00000477654.2_RNA|CLEC17A_ENST00000547437.1_Missense_Mutation_p.P64R|CLEC17A_ENST00000397439.2_Missense_Mutation_p.P64R	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	64						cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)	p.P64R(1)									GACCTTCCTCCCAAGCCAGGT	0.552																																						uc010dzn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(190-192)CCC>CGC		SubName: Full=CLEC17A protein;							32.0	30.0	31.0					19																	14698495		1854	4087	5941	SO:0001583	missense	388512					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity	g.chr19:14698495C>G	AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"""C-type lectin domain containing"""	34520	protein-coding gene	gene with protein product	"""prolectin"""					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.191C>G	19.37:g.14698495C>G	ENSP00000393719:p.Pro64Arg					CLEC17A_uc002mzh.1_Missense_Mutation_p.P64R|CLEC17A_uc010xnt.1_RNA|CLEC17A_uc010xnu.1_Missense_Mutation_p.P64R|CLEC17A_uc010dzo.1_Missense_Mutation_p.P64R	p.P64R			Q6ZS10	CL17A_HUMAN			3	268	+			64			Cytoplasmic (Potential).		A8MX68|B2RTX0|B7ZMM4	Missense_Mutation	SNP	ENST00000417570.1	37	c.191C>G	CCDS56087.1	.	.	.	.	.	.	.	.	.	.	-	19.44	3.827658	0.71143	.	.	ENSG00000187912	ENST00000547437;ENST00000397439;ENST00000417570	T;T;T	0.62639	0.01;1.99;0.01	2.32	1.26	0.21427	.	0.000000	0.31884	N	0.006916	T	0.65943	0.2740	L	0.46157	1.445	0.23936	N	0.99641	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.87578	0.982;0.998;0.996;0.998	T	0.51301	-0.8723	10	0.87932	D	0	-19.5079	4.067	0.09864	0.0:0.7898:0.0:0.2102	.	64;64;64;64	Q6ZS10-2;Q6ZS10-3;Q6ZS10;F8W1T8	.;.;CL17A_HUMAN;.	R	64	ENSP00000450065:P64R;ENSP00000380581:P64R;ENSP00000393719:P64R	ENSP00000341620:P64R	P	+	2	0	CLEC17A	14559495	0.991000	0.36638	0.994000	0.49952	0.908000	0.53690	1.386000	0.34419	1.269000	0.44280	0.505000	0.49811	CCC		PASS	0.552	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403400.1	NM_207390		8	20	8	20	---	---	---	---
GTPBP3	84705	broad.mit.edu	37	19	17449960	17449960	+	Silent	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:17449960G>T	ENST00000324894.8	+	6	761	c.693G>T	c.(691-693)gtG>gtT	p.V231V	GTPBP3_ENST00000358792.7_Silent_p.V263V|GTPBP3_ENST00000361619.5_Silent_p.V253V|GTPBP3_ENST00000600625.1_Silent_p.V231V|GTPBP3_ENST00000598038.1_3'UTR	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	231					tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.V263V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						CACTGCAGGTGGCCCTGGGTG	0.632																																						uc010eas.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(691-693)GTG>GTT		GTP binding protein 3 (mitochondrial) isoform V							75.0	66.0	69.0					19																	17449960		2203	4300	6503	SO:0001819	synonymous_variant	84705				tRNA modification	mitochondrion	GTP binding|GTPase activity	g.chr19:17449960G>T	AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.693G>T	19.37:g.17449960G>T						GTPBP3_uc010xpo.1_Silent_p.V253V|GTPBP3_uc010ear.1_RNA|GTPBP3_uc002ngh.3_Silent_p.V231V|GTPBP3_uc002ngg.3_Silent_p.V263V|GTPBP3_uc002ngi.3_5'UTR	p.V231V	NM_032620	NP_116009	Q969Y2	GTPB3_HUMAN			6	758	+			231					A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Silent	SNP	ENST00000324894.8	37	c.693G>T	CCDS32951.1																																																																																				PASS	0.632	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	NM_032620		19	57	19	57	---	---	---	---
PDE4C	5143	broad.mit.edu	37	19	18327649	18327649	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:18327649C>A	ENST00000355502.3	-	16	2258	c.1387G>T	c.(1387-1389)Gct>Tct	p.A463S	PDE4C_ENST00000594617.3_Missense_Mutation_p.A463S|PDE4C_ENST00000597297.1_Missense_Mutation_p.A233S|PDE4C_ENST00000447275.3_Missense_Mutation_p.A357S|PDE4C_ENST00000598111.2_Missense_Mutation_p.A178S|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000539010.1_Missense_Mutation_p.A232S|PDE4C_ENST00000594465.3_Missense_Mutation_p.A463S|PDE4C_ENST00000262805.12_Missense_Mutation_p.A431S			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	463					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.A463S(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	AAGCCCACAGCCAGGTGATGG	0.582																																						uc010xqc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1387-1389)GCT>TCT		phosphodiesterase 4C isoform PDE4C-2	Dyphylline(DB00651)						100.0	92.0	95.0					19																	18327649		2203	4300	6503	SO:0001583	missense	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18327649C>A		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1387G>T	19.37:g.18327649C>A	ENSP00000347689:p.Ala463Ser					PDE4C_uc002nik.3_Missense_Mutation_p.A463S|PDE4C_uc002nil.3_Missense_Mutation_p.A463S|PDE4C_uc002nif.3_Missense_Mutation_p.A232S|PDE4C_uc002nig.3_Missense_Mutation_p.A178S|PDE4C_uc002nih.3_Missense_Mutation_p.A233S|PDE4C_uc010ebk.2_Missense_Mutation_p.A357S|PDE4C_uc002nii.3_Missense_Mutation_p.A431S|PDE4C_uc010ebl.2_Missense_Mutation_p.A177S|PDE4C_uc010xqd.1_Missense_Mutation_p.A232S	p.A463S	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN			12	1867	-			463					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	ENST00000355502.3	37	c.1387G>T	CCDS12373.1	.	.	.	.	.	.	.	.	.	.	c	14.16	2.451327	0.43531	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000545961;ENST00000336173;ENST00000539010;ENST00000543547	D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55	4.52	4.52	0.55395	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.88254	0.6387	L	0.58925	1.835	0.39780	D	0.972285	P;D;B;D	0.65815	0.936;0.995;0.339;0.985	D;D;P;P	0.69824	0.933;0.966;0.782;0.868	D	0.87807	0.2629	10	0.34782	T	0.22	.	14.7647	0.69629	0.0:1.0:0.0:0.0	.	463;431;269;178	Q08493;Q08493-3;O43850;O76104	PDE4C_HUMAN;.;.;.	S	542;463;451;431;357;269;177;232;572	ENSP00000347689:A463S;ENSP00000262805:A431S;ENSP00000402091:A357S;ENSP00000439470:A232S	ENSP00000262805:A431S	A	-	1	0	PDE4C	18188649	1.000000	0.71417	0.997000	0.53966	0.280000	0.26924	7.380000	0.79704	2.069000	0.61940	0.479000	0.44913	GCT		PASS	0.582	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			52	122	52	122	---	---	---	---
ZNF527	84503	broad.mit.edu	37	19	37879768	37879768	+	Missense_Mutation	SNP	C	C	T	rs372532363		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:37879768C>T	ENST00000436120.2	+	5	924	c.817C>T	c.(817-819)Ccc>Tcc	p.P273S	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	273					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.P273S(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGAAAATTACCCCATGGATA	0.383																																						uc010efk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(817-819)CCC>TCC		zinc finger protein 527							117.0	108.0	111.0					19																	37879768		1943	4155	6098	SO:0001583	missense	84503				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37879768C>T	AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.817C>T	19.37:g.37879768C>T	ENSP00000390179:p.Pro273Ser					ZNF527_uc002ogf.3_Missense_Mutation_p.P241S|ZNF527_uc010xtq.1_RNA	p.P273S	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	928	+			273					B4DVL5	Missense_Mutation	SNP	ENST00000436120.2	37	c.817C>T	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933304	0.52866	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	4.19	-1.02	0.10135	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.554921	0.13686	N	0.369859	T	0.56016	0.1957	M	0.88570	2.965	0.32130	N	0.586939	B;B	0.14012	0.005;0.009	B;B	0.08055	0.002;0.003	T	0.58538	-0.7619	9	0.66056	D	0.02	.	4.0082	0.09611	0.3197:0.493:0.0:0.1873	.	273;241	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	S	273;241;221	.	ENSP00000325231:P241S	P	+	1	0	ZNF527	42571608	0.976000	0.34144	0.003000	0.11579	0.799000	0.45148	2.861000	0.48380	0.063000	0.16370	0.655000	0.94253	CCC		PASS	0.383	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453		144	253	144	253	---	---	---	---
RINL	126432	broad.mit.edu	37	19	39361379	39361379	+	Silent	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:39361379G>A	ENST00000591812.1	-	8	941	c.855C>T	c.(853-855)atC>atT	p.I285I	RINL_ENST00000602238.1_Intron|RINL_ENST00000340740.3_Silent_p.I171I|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000598904.1_Silent_p.I171I			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	285					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.I171I(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						AATCTGAGGCGATGCGCACCC	0.647																																						uc002ojq.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(511-513)ATC>ATT		Ras and Rab interactor-like							49.0	44.0	46.0					19																	39361379		2203	4300	6503	SO:0001819	synonymous_variant	126432						GTPase activator activity	g.chr19:39361379G>A	AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.855C>T	19.37:g.39361379G>A						RINL_uc002ojr.1_5'Flank|RINL_uc010xuo.1_Silent_p.I285I	p.I171I	NM_198445	NP_940847	Q6ZS11	RINL_HUMAN			8	901	-			171					B4DPG5	Silent	SNP	ENST00000591812.1	37	c.513C>T	CCDS59386.1																																																																																				PASS	0.647	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445		35	58	35	58	---	---	---	---
LRFN1	57622	broad.mit.edu	37	19	39798447	39798447	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:39798447G>T	ENST00000248668.4	-	2	2141	c.2142C>A	c.(2140-2142)ttC>ttA	p.F714L		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	714						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.F666L(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TGTGGCTCTGGAATAGTGCCC	0.731																																						uc002okw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2140-2142)TTC>TTA		leucine rich repeat and fibronectin type III							11.0	14.0	13.0					19																	39798447		1867	4056	5923	SO:0001583	missense	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39798447G>T	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.2142C>A	19.37:g.39798447G>T	ENSP00000248668:p.Phe714Leu						p.F714L	NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		2	2142	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		714			Cytoplasmic (Potential).		Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	c.2142C>A	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.955664	0.34471	.	.	ENSG00000128011	ENST00000248668	T	0.70045	-0.45	3.95	2.91	0.33838	.	0.000000	0.39083	N	0.001471	T	0.44138	0.1279	N	0.24115	0.695	0.51767	D	0.999937	B	0.17667	0.023	B	0.14023	0.01	T	0.14699	-1.0463	10	0.11485	T	0.65	.	6.0693	0.19881	0.2309:0.0:0.7691:0.0	.	714	Q9P244	LRFN1_HUMAN	L	714	ENSP00000248668:F714L	ENSP00000248668:F714L	F	-	3	2	LRFN1	44490287	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	0.984000	0.29565	0.888000	0.36160	0.462000	0.41574	TTC		PASS	0.731	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		5	6	5	6	---	---	---	---
HIPK4	147746	broad.mit.edu	37	19	40895578	40895578	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:40895578A>G	ENST00000291823.2	-	1	516	c.232T>C	c.(232-234)Ttc>Ctc	p.F78L		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	78	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.F78L(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TCATGGAAGAACTCAAGGAAG	0.572																																						uc002onp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|stomach(1)	2						c.(232-234)TTC>CTC		homeodomain interacting protein kinase 4							130.0	120.0	124.0					19																	40895578		2203	4300	6503	SO:0001583	missense	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40895578A>G	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.232T>C	19.37:g.40895578A>G	ENSP00000291823:p.Phe78Leu						p.F78L	NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		1	517	-			78			Protein kinase.		A8K863|Q96M54	Missense_Mutation	SNP	ENST00000291823.2	37	c.232T>C	CCDS12555.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.461951	0.84425	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.63913	-0.07	5.21	5.21	0.72293	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000096	T	0.52008	0.1708	L	0.34521	1.04	0.46028	D	0.998825	P	0.34462	0.454	B	0.38156	0.266	T	0.46830	-0.9163	10	0.12766	T	0.61	.	14.2072	0.65741	1.0:0.0:0.0:0.0	.	78	Q8NE63	HIPK4_HUMAN	L	78;43	ENSP00000291823:F78L	ENSP00000291823:F78L	F	-	1	0	HIPK4	45587418	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.819000	0.62664	2.193000	0.70182	0.460000	0.39030	TTC		PASS	0.572	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		10	288	10	288	---	---	---	---
CEACAM7	1087	broad.mit.edu	37	19	42181387	42181387	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:42181387C>T	ENST00000006724.3	-	4	952	c.751G>A	c.(751-753)Gct>Act	p.A251T	CEACAM7_ENST00000401731.1_Missense_Mutation_p.A251T|CEACAM7_ENST00000602225.1_Missense_Mutation_p.A158T|CEACAM7_ENST00000338196.4_Missense_Mutation_p.A158T	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	251						anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A251T(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		ATGCTGACAGCGGTCCCAGCT	0.463																																						uc002ori.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(751-753)GCT>ACT		carcinoembryonic antigen-related cell adhesion							142.0	118.0	126.0					19																	42181387		2203	4300	6503	SO:0001583	missense	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42181387C>T	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1819	protein-coding gene	gene with protein product	"""carcinoembryonic antigen gene family member 2"""			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.751G>A	19.37:g.42181387C>T	ENSP00000006724:p.Ala251Thr					CEACAM7_uc010ehx.2_Missense_Mutation_p.A251T|CEACAM7_uc010ehy.1_Missense_Mutation_p.A158T	p.A251T	NM_006890	NP_008821	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	4	753	-			251					A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Missense_Mutation	SNP	ENST00000006724.3	37	c.751G>A	CCDS12583.1	.	.	.	.	.	.	.	.	.	.	C	8.101	0.776717	0.16120	.	.	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731;ENST00000338196	T;T;T	0.13089	2.62;2.62;5.43	2.2	-0.991	0.10235	.	.	.	.	.	T	0.02193	0.0068	N	0.00116	-2.08	0.09310	N	1	D;B	0.55605	0.972;0.01	P;B	0.44921	0.464;0.0	T	0.07770	-1.0755	9	0.15952	T	0.53	.	1.7058	0.02881	0.2848:0.1945:0.0:0.5207	.	158;251	Q14002-2;Q14002	.;CEAM7_HUMAN	T	251;230;251;158	ENSP00000006724:A251T;ENSP00000385932:A251T;ENSP00000343286:A158T	ENSP00000006724:A251T	A	-	1	0	CEACAM7	46873227	0.808000	0.29022	0.009000	0.14445	0.389000	0.30415	1.241000	0.32743	0.097000	0.17492	-0.680000	0.03767	GCT		PASS	0.463	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890		4	171	4	171	---	---	---	---
PNMAL1	55228	broad.mit.edu	37	19	46973241	46973241	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:46973241G>T	ENST00000313683.10	-	2	1357	c.1052C>A	c.(1051-1053)gCc>gAc	p.A351D	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Missense_Mutation_p.A351D	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	351								p.A351D(2)		cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		AGACACCCAGGCCACGGCCTT	0.597																																						uc002peq.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1051-1053)GCC>GAC		PNMA-like 1 isoform a							134.0	146.0	142.0					19																	46973241		2203	4300	6503	SO:0001583	missense	55228							g.chr19:46973241G>T	BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"""Paraneoplastic Ma antigens"""	25578	protein-coding gene	gene with protein product			"""PNMA-like 1"""			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.1052C>A	19.37:g.46973241G>T	ENSP00000318131:p.Ala351Asp					PNMAL1_uc002per.3_Missense_Mutation_p.A351D	p.A351D	NM_018215	NP_060685	Q86V59	PNML1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	2	1358	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	351					A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Missense_Mutation	SNP	ENST00000313683.10	37	c.1052C>A	CCDS33059.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410747	0.25465	.	.	ENSG00000182013	ENST00000438932;ENST00000313683	T;T	0.09445	2.98;2.98	3.54	0.0483	0.14284	.	0.769546	0.11110	N	0.598723	T	0.04952	0.0133	N	0.08118	0	0.09310	N	1	B;B	0.27732	0.11;0.187	B;B	0.19148	0.024;0.024	T	0.36696	-0.9737	10	0.87932	D	0	-19.3809	6.6906	0.23169	0.1787:0.4028:0.4186:0.0	.	351;351	Q86V59-2;Q86V59	.;PNML1_HUMAN	D	351	ENSP00000410273:A351D;ENSP00000318131:A351D	ENSP00000318131:A351D	A	-	2	0	PNMAL1	51665081	0.218000	0.23608	0.110000	0.21437	0.004000	0.04260	0.069000	0.14552	0.115000	0.18071	-0.165000	0.13383	GCC		PASS	0.597	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215		134	390	134	390	---	---	---	---
GYS1	2997	broad.mit.edu	37	19	49474215	49474215	+	Nonsense_Mutation	SNP	C	C	A	rs561646250	byFrequency	TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:49474215C>A	ENST00000323798.3	-	13	1811	c.1615G>T	c.(1615-1617)Gag>Tag	p.E539*	GYS1_ENST00000263276.6_Nonsense_Mutation_p.E475*|GYS1_ENST00000544287.1_Nonsense_Mutation_p.E172*|GYS1_ENST00000541188.1_Nonsense_Mutation_p.E459*	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	539					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)	p.E539*(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		ATGTGTTCCTCCATGAAGCAG	0.587											OREG0025611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002plp.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1615-1617)GAG>TAG		glycogen synthase 1 (muscle) isoform 1							120.0	109.0	112.0					19																	49474215		2203	4300	6503	SO:0001587	stop_gained	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49474215C>A		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.1615G>T	19.37:g.49474215C>A	ENSP00000317904:p.Glu539*		OREG0025611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	962	GYS1_uc010xzy.1_Nonsense_Mutation_p.E172*|GYS1_uc010emm.2_Nonsense_Mutation_p.E475*|GYS1_uc010xzz.1_Nonsense_Mutation_p.E459*	p.E539*	NM_002103	NP_002094	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	13	1856	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	539					Q9BTT9	Nonsense_Mutation	SNP	ENST00000323798.3	37	c.1615G>T	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	C	40	8.012801	0.98610	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188;ENST00000544287	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-19.678	16.9196	0.86160	0.0:1.0:0.0:0.0	.	.	.	.	X	539;475;459;172	.	ENSP00000263276:E475X	E	-	1	0	GYS1	54166027	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.871000	0.48459	2.676000	0.91093	0.561000	0.74099	GAG		PASS	0.587	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		37	109	37	109	---	---	---	---
KLK13	26085	broad.mit.edu	37	19	51563314	51563314	+	Silent	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:51563314C>A	ENST00000595793.1	-	3	318	c.276G>T	c.(274-276)ggG>ggT	p.G92G	KLK13_ENST00000595547.1_Silent_p.G92G|KLK13_ENST00000335422.3_Intron|KLK13_ENST00000596955.1_Silent_p.G92G	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	92	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)	p.G92G(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		CTTCCACACGCCCTAGGGCGT	0.567																																						uc002pvn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(274-276)GGG>GGT		kallikrein 13 precursor							70.0	72.0	71.0					19																	51563314		2203	4300	6503	SO:0001819	synonymous_variant	26085				proteolysis		protein binding|serine-type endopeptidase activity	g.chr19:51563314C>A		CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"""Kallikreins"""	6361	protein-coding gene	gene with protein product		605505	"""kallikrein 13"""			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.276G>T	19.37:g.51563314C>A						KLK13_uc002pvl.2_RNA|KLK13_uc002pvm.2_RNA|KLK13_uc002pvo.2_RNA|KLK13_uc002pvp.2_RNA|KLK13_uc010eon.2_Silent_p.G92G|KLK13_uc002pvq.2_RNA|KLK13_uc010eoo.2_Intron|KLK13_uc002pvr.2_Silent_p.G92G	p.G92G	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)	3	319	-		all_neural(266;0.026)	92			Peptidase S1.		A7UNK6|Q86VI8|Q9Y433	Silent	SNP	ENST00000595793.1	37	c.276G>T	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	C	1.486	-0.556051	0.03967	.	.	ENSG00000167759	ENST00000376799	.	.	.	3.63	-1.68	0.08212	.	.	.	.	.	T	0.38639	0.1048	.	.	.	0.27049	N	0.963833	.	.	.	.	.	.	T	0.46205	-0.9208	5	0.87932	D	0	.	6.4859	0.22089	0.5073:0.3251:0.1676:0.0	.	.	.	.	S	94	.	ENSP00000365995:A94S	A	-	1	0	KLK13	56255126	0.000000	0.05858	0.992000	0.48379	0.016000	0.09150	0.001000	0.13038	0.026000	0.15269	-1.531000	0.00922	GCG		PASS	0.567	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	NM_015596		68	122	68	122	---	---	---	---
SIGLECL1	284369	broad.mit.edu	37	19	51768734	51768734	+	Silent	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:51768734C>A	ENST00000316401.7	+	3	516	c.135C>A	c.(133-135)ccC>ccA	p.P45P	CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000597824.1_Intron|SIGLECL1_ENST00000593968.1_Intron	NM_173635.1	NP_775906.1	Q96PQ1	SIG12_HUMAN	SIGLEC family like 1	416	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.P45P(1)									GAGGAGTCCCCGTGGGTGTGG	0.572																																						uc002pwb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(133-135)CCC>CCA		hypothetical protein LOC284369							75.0	68.0	70.0					19																	51768734		2203	4300	6503	SO:0001819	synonymous_variant	284369					integral to membrane		g.chr19:51768734C>A	AK097554	CCDS12827.1	19q13.33	2013-03-20	2012-07-20	2012-07-20	ENSG00000179213	ENSG00000179213			26856	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 75"", ""sialic acid binding Ig-like lectin 23, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 7"""	C19orf75, SIGLEC23P, SIGLECP7			Standard	NM_173635		Approved	FLJ40235	uc002pwb.1	Q8N7X8	OTTHUMG00000182881	ENST00000316401.7:c.135C>A	19.37:g.51768734C>A						C19orf75_uc010eov.1_Intron|C19orf75_uc010ycw.1_Intron	p.P45P	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN			3	516	+			45					Q8IYH7	Silent	SNP	ENST00000316401.7	37	c.135C>A	CCDS12827.1																																																																																				PASS	0.572	SIGLECL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464161.2	NM_173635		40	86	40	86	---	---	---	---
SIGLEC12	89858	broad.mit.edu	37	19	51994991	51994991	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:51994991C>A	ENST00000291707.3	-	8	1747	c.1692G>T	c.(1690-1692)caG>caT	p.Q564H	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.Q446H	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	564					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.Q564H(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGGATGCATACTGGATCTCTC	0.592																																						uc002pwx.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1690-1692)CAG>CAT		sialic acid binding immunoglobulin-like							88.0	79.0	82.0					19																	51994991		2203	4300	6503	SO:0001583	missense	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:51994991C>A	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1692G>T	19.37:g.51994991C>A	ENSP00000291707:p.Gln564His					SIGLEC12_uc002pww.1_Missense_Mutation_p.Q446H|SIGLEC12_uc010eoy.1_Missense_Mutation_p.Q291H	p.Q564H	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	8	1748	-		all_neural(266;0.0199)	564			Cytoplasmic (Potential).|ITIM motif.		Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	c.1692G>T	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-2.949514	0.00051	.	.	ENSG00000254521	ENST00000291707	T	0.04083	3.71	2.79	-5.58	0.02512	.	.	.	.	.	T	0.01061	0.0035	N	0.00864	-1.135	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.25882	-1.0119	9	0.02654	T	1	.	3.6643	0.08250	0.1504:0.3034:0.4254:0.1209	.	564;446	Q96PQ1;Q96PQ1-2	SIG12_HUMAN;.	H	564	ENSP00000291707:Q564H	ENSP00000291707:Q564H	Q	-	3	2	SIGLEC12	56686803	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.520000	0.02241	-3.241000	0.00207	-1.445000	0.01065	CAG		PASS	0.592	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		65	158	65	158	---	---	---	---
ZNF480	147657	broad.mit.edu	37	19	52825873	52825873	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:52825873G>T	ENST00000595962.1	+	5	1436	c.1370G>T	c.(1369-1371)tGt>tTt	p.C457F	ZNF480_ENST00000334564.7_Missense_Mutation_p.C414F|ZNF480_ENST00000335090.6_Missense_Mutation_p.C380F|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.C457F(1)|p.C438F(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		CCTTACAAATGTAGTGAATGT	0.398																																						uc010ydl.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(1369-1371)TGT>TTT		zinc finger protein 480							140.0	142.0	141.0					19																	52825873		2203	4300	6503	SO:0001583	missense	147657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:52825873G>T	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.1370G>T	19.37:g.52825873G>T	ENSP00000471754:p.Cys457Phe					ZNF480_uc002pyv.2_Missense_Mutation_p.C380F|ZNF480_uc010ydm.1_Missense_Mutation_p.C414F|ZNF480_uc010epn.2_Missense_Mutation_p.C288F|uc002pyw.1_Intron	p.C457F	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN		GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)	5	1440	+			457			C2H2-type 10.		Q5JPG9|Q6P0Q4|Q8N1M5	Missense_Mutation	SNP	ENST00000595962.1	37	c.1370G>T	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	G	7.829	0.719525	0.15372	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	D;D;D	0.85088	-1.94;-1.94;-1.94	1.82	0.698	0.18087	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93265	0.7854	H	0.95745	3.715	0.22354	N	0.999171	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.83643	0.0151	9	0.87932	D	0	.	7.2737	0.26271	0.153:0.0:0.847:0.0	.	414;457	F8WEZ9;Q8WV37	.;ZN480_HUMAN	F	457;414;380	ENSP00000417424:C457F;ENSP00000334164:C414F;ENSP00000335670:C380F	ENSP00000334164:C414F	C	+	2	0	ZNF480	57517685	0.993000	0.37304	0.039000	0.18376	0.087000	0.18053	4.499000	0.60380	0.092000	0.17331	0.467000	0.42956	TGT		PASS	0.398	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684		87	212	87	212	---	---	---	---
ZNF534	147658	broad.mit.edu	37	19	52941383	52941383	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:52941383A>G	ENST00000332323.6	+	4	770	c.709A>G	c.(709-711)Agt>Ggt	p.S237G	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.S224G|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	237					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.S237G(1)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CGAGATCTTTAGTAGCAATTC	0.388																																						uc002pzk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(709-711)AGT>GGT		zinc finger protein 534 isoform 2							73.0	65.0	68.0					19																	52941383		1568	3582	5150	SO:0001583	missense	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52941383A>G	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.709A>G	19.37:g.52941383A>G	ENSP00000327538:p.Ser237Gly					ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Missense_Mutation_p.S224G	p.S237G	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN			4	770	+			237			C2H2-type 2.		Q76KX9	Missense_Mutation	SNP	ENST00000332323.6	37	c.709A>G	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	A	2.881	-0.231848	0.05983	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.16597	2.33;2.33	1.81	0.662	0.17880	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12944	0.0314	M	0.67517	2.055	0.09310	N	1	B;P	0.42483	0.356;0.781	B;B	0.27796	0.023;0.083	T	0.16041	-1.0416	9	0.42905	T	0.14	.	5.7868	0.18338	0.725:0.2749:0.0:0.0	.	224;237	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	G	237;224;236	ENSP00000327538:S237G;ENSP00000391358:S224G	ENSP00000327538:S237G	S	+	1	0	ZNF534	57633195	.	.	0.000000	0.03702	0.002000	0.02628	.	.	-0.035000	0.13691	-0.661000	0.03856	AGT		PASS	0.388	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		3	128	3	128	---	---	---	---
ZNF320	162967	broad.mit.edu	37	19	53384080	53384080	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:53384080C>A	ENST00000595635.1	-	8	1800	c.1299G>T	c.(1297-1299)agG>agT	p.R433S	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.R433S|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	433					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.R433S(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		CTGTATGAATCCTCCTATGTC	0.393																																						uc002qag.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1297-1299)AGG>AGT		zinc finger protein 320							86.0	77.0	80.0					19																	53384080		2203	4300	6503	SO:0001583	missense	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53384080C>A	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.1299G>T	19.37:g.53384080C>A	ENSP00000473091:p.Arg433Ser					ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.R379S|ZNF320_uc002qai.2_Missense_Mutation_p.R433S	p.R433S	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	4	1490	-			433			C2H2-type 10.		Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	c.1299G>T	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	16.16	3.044511	0.55110	.	.	ENSG00000182986	ENST00000391781	T	0.02395	4.31	1.74	-0.0773	0.13719	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08626	0.0214	M	0.67953	2.075	0.23859	N	0.996643	D	0.76494	0.999	P	0.62491	0.903	T	0.19353	-1.0308	9	0.59425	D	0.04	.	5.1494	0.15002	0.0:0.2672:0.0:0.7328	.	433	A2RRD8	ZN320_HUMAN	S	433	ENSP00000375660:R433S	ENSP00000375660:R433S	R	-	3	2	ZNF320	58075892	0.000000	0.05858	0.005000	0.12908	0.479000	0.33129	-1.720000	0.01871	-0.241000	0.09681	0.184000	0.17185	AGG		PASS	0.393	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333		40	130	40	130	---	---	---	---
ZNF665	79788	broad.mit.edu	37	19	53668046	53668046	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:53668046C>A	ENST00000600412.1	-	2	1617	c.1502G>T	c.(1501-1503)gGt>gTt	p.G501V	ZNF665_ENST00000396424.3_Missense_Mutation_p.G566V|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	501					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.G501V(1)|p.G566V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AGGTTTCTCACCAGTGTGAAT	0.393																																						uc010eqm.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1696-1698)GGT>GTT		zinc finger protein 665							118.0	124.0	122.0					19																	53668046		2202	4300	6502	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668046C>A		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1502G>T	19.37:g.53668046C>A	ENSP00000469154:p.Gly501Val						p.G566V	NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	4	1797	-			501					A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.1697G>T		.	.	.	.	.	.	.	.	.	.	C	14.24	2.476967	0.44044	.	.	ENSG00000197497	ENST00000396424	T	0.23552	1.9	2.44	1.32	0.21799	.	.	.	.	.	T	0.42449	0.1203	M	0.62266	1.93	0.44388	D	0.997298	D	0.89917	1.0	D	0.97110	1.0	T	0.23368	-1.0190	9	0.87932	D	0	.	7.5654	0.27876	0.0:0.849:0.0:0.151	.	566	Q9H7R5-2	.	V	566	ENSP00000379702:G566V	ENSP00000379702:G566V	G	-	2	0	ZNF665	58359858	0.029000	0.19370	0.014000	0.15608	0.020000	0.10135	2.365000	0.44196	0.290000	0.22444	0.543000	0.68304	GGT		PASS	0.393	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		92	254	92	254	---	---	---	---
NLRP12	91662	broad.mit.edu	37	19	54297352	54297352	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:54297352C>A	ENST00000324134.6	-	10	3305	c.3137G>T	c.(3136-3138)aGg>aTg	p.R1046M	NLRP12_ENST00000354278.3_Missense_Mutation_p.R877M|NLRP12_ENST00000535162.1_Missense_Mutation_p.R989M|NLRP12_ENST00000345770.5_Missense_Mutation_p.R991M|NLRP12_ENST00000391773.1_Missense_Mutation_p.R1047M|NLRP12_ENST00000391775.3_Missense_Mutation_p.R989M|NLRP12_ENST00000351894.4_Missense_Mutation_p.R934M|NLRP12_ENST00000391772.1_Missense_Mutation_p.R877M	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	1046					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.R1046M(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CGCTGCCAACCTACTGTGGGT	0.448																																						uc002qch.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(3136-3138)AGG>ATG		NLR family, pyrin domain containing 12 isoform							167.0	135.0	146.0					19																	54297352		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54297352C>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.3137G>T	19.37:g.54297352C>A	ENSP00000319377:p.Arg1046Met					NLRP12_uc010eqw.2_Missense_Mutation_p.R272M|NLRP12_uc002qci.3_Missense_Mutation_p.R989M|NLRP12_uc002qcj.3_Missense_Mutation_p.R1047M|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_3'UTR	p.R1046M	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	10	3357	-	Ovarian(34;0.19)		1046			LRR 8.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.3137G>T	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374628	0.42105	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000358661;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.74209	0.61;0.64;0.65;-0.82;0.64;0.61;-0.81	4.44	-0.498	0.12019	.	.	.	.	.	T	0.70124	0.3188	L	0.40543	1.245	0.09310	N	1	D;B;D;P	0.61080	0.989;0.298;0.958;0.938	P;B;P;P	0.59288	0.855;0.11;0.635;0.547	T	0.57452	-0.7809	9	0.30078	T	0.28	.	1.5874	0.02647	0.2705:0.3016:0.3128:0.1151	.	272;1046;989;1046	P59046-5;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	M	1046;989;934;877;272;989;1047;990;877	ENSP00000319377:R1046M;ENSP00000438030:R989M;ENSP00000340473:R934M;ENSP00000346231:R877M;ENSP00000375655:R989M;ENSP00000375653:R1047M;ENSP00000375652:R877M	ENSP00000319377:R1046M	R	-	2	0	NLRP12	58989164	0.000000	0.05858	0.000000	0.03702	0.155000	0.21991	0.269000	0.18589	-0.194000	0.10399	0.462000	0.41574	AGG		PASS	0.448	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		43	97	43	97	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55316354	55316354	+	Intron	SNP	G	G	C	rs534098694		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:55316354G>C	ENST00000538269.1	+	2	61				KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000357494.4_Silent_p.T61T|KIR2DL4_ENST00000359085.4_Silent_p.T61T|KIR2DL4_ENST00000396293.1_Intron|KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000345540.5_Silent_p.T61T|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Silent_p.T59T			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.T61T(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		ACATCTTCACGCTGTACAAGA	0.547																																						uc010yfm.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(181-183)ACG>ACC		killer cell immunoglobulin-like receptor, two							109.0	98.0	102.0					19																	55316354		2124	3831	5955	SO:0001627	intron_variant	3805				cellular defense response|regulation of immune response	integral to plasma membrane	protein binding|transmembrane receptor activity	g.chr19:55316354G>C	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-12635G>C	19.37:g.55316354G>C						KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL4_uc010yfl.1_Silent_p.T56T|KIR2DL4_uc002qhg.2_Silent_p.T61T|KIR2DL4_uc002qhi.2_Silent_p.T61T|KIR2DL4_uc002qhh.2_Intron|KIR2DL4_uc002qhj.2_Silent_p.T61T|KIR2DL4_uc002qhf.2_Intron|KIR2DL4_uc010esd.2_Silent_p.T61T|KIR2DL4_uc010ese.2_5'Flank	p.T61T	NM_002255	NP_002246	Q99706	KI2L4_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	223	+			61			Ig-like C2-type 1.|Extracellular (Potential).		O43473|Q14946|Q16541	Silent	SNP	ENST00000538269.1	37	c.183G>C																																																																																					PASS	0.547	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		50	28	50	28	---	---	---	---
NLRP2	55655	broad.mit.edu	37	19	55493895	55493895	+	Silent	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:55493895C>T	ENST00000543010.1	+	6	972	c.829C>T	c.(829-831)Cta>Tta	p.L277L	NLRP2_ENST00000391721.4_Silent_p.L253L|NLRP2_ENST00000538819.1_Silent_p.L253L|NLRP2_ENST00000448584.2_Silent_p.L277L|NLRP2_ENST00000263437.6_Silent_p.L274L|NLRP2_ENST00000537859.1_Silent_p.L255L|NLRP2_ENST00000427260.2_Silent_p.L254L|NLRP2_ENST00000339757.7_Silent_p.L255L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	277	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)	p.L277L(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TCCACACATCCTAGCCCAAGC	0.587																																						uc002qij.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(829-831)CTA>TTA		NLR family, pyrin domain containing 2							63.0	62.0	62.0					19																	55493895		2203	4300	6503	SO:0001819	synonymous_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55493895C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.829C>T	19.37:g.55493895C>T						NLRP2_uc010yfp.1_Silent_p.L254L|NLRP2_uc010esn.2_Silent_p.L253L|NLRP2_uc010eso.2_Silent_p.L274L|NLRP2_uc010esp.2_Silent_p.L255L	p.L277L	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	915	+			277			NACHT.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.829C>T	CCDS12913.1																																																																																				PASS	0.587	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		38	79	38	79	---	---	---	---
NLRP11	204801	broad.mit.edu	37	19	56321318	56321318	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:56321318C>T	ENST00000589093.1	-	3	751	c.658G>A	c.(658-660)Gat>Aat	p.D220N	NLRP11_ENST00000360133.3_Missense_Mutation_p.D220N|NLRP11_ENST00000589824.2_Missense_Mutation_p.D220N|NLRP11_ENST00000443188.1_Missense_Mutation_p.D220N|NLRP11_ENST00000592953.1_Missense_Mutation_p.D121N			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	220	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.D220N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TTCTTGGGATCAGACAGGATG	0.478																																						uc010ygf.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(658-660)GAT>AAT		NLR family, pyrin domain containing 11							86.0	84.0	84.0					19																	56321318		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56321318C>T	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.658G>A	19.37:g.56321318C>T	ENSP00000466285:p.Asp220Asn					NLRP11_uc002qlz.2_Missense_Mutation_p.D121N|NLRP11_uc002qmb.2_Missense_Mutation_p.D121N|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	p.D220N	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	5	1369	-		Colorectal(82;0.0002)	220			NACHT.		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.658G>A	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	C	9.956	1.221415	0.22457	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.77098	-1.07;-1.07	2.48	-1.72	0.08107	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.61726	0.2370	L	0.28115	0.83	0.09310	N	1	B;B	0.32968	0.392;0.216	B;B	0.37989	0.262;0.113	T	0.53982	-0.8361	9	0.46703	T	0.11	.	1.9803	0.03425	0.1923:0.3032:0.3786:0.1259	.	220;220	P59045;P59045-2	NAL11_HUMAN;.	N	220	ENSP00000409898:D220N;ENSP00000353251:D220N	ENSP00000353251:D220N	D	-	1	0	NLRP11	61013130	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.677000	0.01944	-0.222000	0.09958	0.609000	0.83330	GAT		PASS	0.478	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		59	83	59	83	---	---	---	---
ZNF583	147949	broad.mit.edu	37	19	56925400	56925400	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:56925400A>T	ENST00000333201.9	+	3	292	c.82A>T	c.(82-84)Agg>Tgg	p.R28W	ZNF583_ENST00000291598.7_Missense_Mutation_p.R28W	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	28	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R28W(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CCCTGCTCAGAGGAATTTGTA	0.438																																						uc010ygl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(82-84)AGG>TGG		zinc finger protein 583							136.0	130.0	132.0					19																	56925400		2203	4300	6503	SO:0001583	missense	147949				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56925400A>T	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.82A>T	19.37:g.56925400A>T	ENSP00000388502:p.Arg28Trp					ZNF583_uc002qnc.2_Missense_Mutation_p.R28W|ZNF583_uc010ygm.1_Missense_Mutation_p.R28W	p.R28W	NM_001159860	NP_001153332	Q96ND8	ZN583_HUMAN		GBM - Glioblastoma multiforme(193;0.0564)	3	247	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	28			KRAB.		O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	c.82A>T	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	A	19.30	3.800399	0.70567	.	.	ENSG00000198440	ENST00000537943;ENST00000291598;ENST00000333201;ENST00000391778;ENST00000436972	T;T;T;T	0.03004	4.08;4.08;4.08;4.08	4.58	3.53	0.40419	Krueppel-associated box (4);	0.142956	0.32258	N	0.006355	T	0.16685	0.0401	M	0.84156	2.68	0.28836	N	0.896892	D	0.89917	1.0	D	0.74023	0.982	T	0.01909	-1.1249	10	0.87932	D	0	.	9.617	0.39698	0.8235:0.1765:0.0:0.0	.	28	Q96ND8	ZN583_HUMAN	W	28	ENSP00000444291:R28W;ENSP00000291598:R28W;ENSP00000388502:R28W;ENSP00000375657:R28W	ENSP00000291598:R28W	R	+	1	2	ZNF583	61617212	0.999000	0.42202	0.925000	0.36789	0.834000	0.47266	2.493000	0.45320	0.866000	0.35629	0.383000	0.25322	AGG		PASS	0.438	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		62	149	62	149	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57326945	57326945	+	Silent	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:57326945C>A	ENST00000326441.9	-	10	3228	c.2865G>T	c.(2863-2865)ctG>ctT	p.L955L	PEG3_ENST00000593695.1_Silent_p.L829L|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Silent_p.L955L|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Silent_p.L831L|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	955					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.L955L(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CACCAAAAGGCAGAGAGTGAA	0.473																																						uc002qnu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(2863-2865)CTG>CTT		paternally expressed 3 isoform 1							142.0	135.0	137.0					19																	57326945		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57326945C>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2865G>T	19.37:g.57326945C>A						ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.L926L|PEG3_uc002qnv.2_Silent_p.L955L|PEG3_uc002qnw.2_Silent_p.L831L|PEG3_uc002qnx.2_Silent_p.L829L|PEG3_uc010etr.2_Silent_p.L955L	p.L955L	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	3216	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	955					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.2865G>T	CCDS12948.1																																																																																				PASS	0.473	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			77	272	77	272	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57326953	57326953	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:57326953G>A	ENST00000326441.9	-	10	3220	c.2857C>T	c.(2857-2859)Cac>Tac	p.H953Y	PEG3_ENST00000593695.1_Missense_Mutation_p.H827Y|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.H953Y|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.H829Y|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	953					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.H953Y(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGCAGAGAGTGAATTACAGAG	0.468																																						uc002qnu.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(2857-2859)CAC>TAC		paternally expressed 3 isoform 1							144.0	137.0	140.0					19																	57326953		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57326953G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2857C>T	19.37:g.57326953G>A	ENSP00000326581:p.His953Tyr					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.H924Y|PEG3_uc002qnv.2_Missense_Mutation_p.H953Y|PEG3_uc002qnw.2_Missense_Mutation_p.H829Y|PEG3_uc002qnx.2_Missense_Mutation_p.H827Y|PEG3_uc010etr.2_Missense_Mutation_p.H953Y	p.H953Y	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	3208	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	953					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.2857C>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662451	0.67700	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.03181	4.02;4.02	3.99	3.99	0.46301	.	0.135740	0.34386	N	0.004008	T	0.13543	0.0328	M	0.68593	2.085	.	.	.	D;D;D	0.71674	0.994;0.998;0.998	P;D;D	0.77557	0.796;0.99;0.99	T	0.22730	-1.0208	9	0.17369	T	0.5	-26.791	14.394	0.66999	0.0:0.0:1.0:0.0	.	829;953;888	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	Y	953	ENSP00000326581:H953Y;ENSP00000403051:H953Y	ENSP00000326581:H953Y	H	-	1	0	ZIM2	62018765	0.154000	0.22792	0.836000	0.33094	0.730000	0.41778	1.712000	0.37940	2.539000	0.85634	0.655000	0.94253	CAC		PASS	0.468	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			79	295	79	295	---	---	---	---
ZNF324B	388569	broad.mit.edu	37	19	58967783	58967783	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:58967783G>T	ENST00000336614.4	+	4	1579	c.1472G>T	c.(1471-1473)cGt>cTt	p.R491L	ZNF324B_ENST00000545523.1_Missense_Mutation_p.R491L|ZNF324B_ENST00000391696.1_Missense_Mutation_p.R481L	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	491					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.R491L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CGCGCCTTCCGTGAGCGCCCT	0.657																																						uc002qsv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1471-1473)CGT>CTT		zinc finger protein 324B							70.0	76.0	74.0					19																	58967783		2203	4300	6503	SO:0001583	missense	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58967783G>T	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.1472G>T	19.37:g.58967783G>T	ENSP00000337473:p.Arg491Leu					ZNF324B_uc002qsu.1_Missense_Mutation_p.R481L|ZNF324B_uc010euq.1_Missense_Mutation_p.R491L	p.R491L	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	1579	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	491			C2H2-type 9.		B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	ENST00000336614.4	37	c.1472G>T	CCDS33138.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881372	0.33255	.	.	ENSG00000249471	ENST00000336614;ENST00000545523;ENST00000391696	T;T;T	0.01599	4.74;4.74;4.74	3.06	1.88	0.25563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39020	N	0.001497	T	0.03390	0.0098	N	0.19112	0.55	0.26296	N	0.978052	D;P	0.76494	0.999;0.833	D;B	0.72338	0.977;0.354	T	0.38478	-0.9659	10	0.56958	D	0.05	.	8.3003	0.32010	0.0:0.403:0.597:0.0	.	491;481	Q6AW86;C9JTQ8	Z324B_HUMAN;.	L	491;491;481	ENSP00000337473:R491L;ENSP00000438930:R491L;ENSP00000375578:R481L	ENSP00000337473:R491L	R	+	2	0	ZNF324B	63659595	0.630000	0.27155	0.965000	0.40720	0.060000	0.15804	2.241000	0.43097	1.694000	0.51137	0.467000	0.42956	CGT		PASS	0.657	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		52	87	52	87	---	---	---	---
SIRPB1	10326	broad.mit.edu	37	20	1546881	1546881	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr20:1546881C>A	ENST00000381605.4	-	5	1181	c.1117G>T	c.(1117-1119)Gta>Tta	p.V373L	SIRPB1_ENST00000262929.5_Missense_Mutation_p.V155L|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Missense_Mutation_p.V156L	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	373					cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.V373L(1)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AGGAGAGCTACGAGGAGTGGA	0.587																																						uc010gai.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1117-1119)GTA>TTA		signal-regulatory protein beta 1 isoform 1							53.0	45.0	48.0					20																	1546881		2203	4300	6503	SO:0001583	missense	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1546881C>A	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.1117G>T	20.37:g.1546881C>A	ENSP00000371018:p.Val373Leu					SIRPB1_uc002wfk.3_Missense_Mutation_p.V156L	p.V373L	NM_006065	NP_006056	O00241	SIRB1_HUMAN			5	1216	-			373			Helical; (Potential).		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.1117G>T	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	10.69	1.420678	0.25639	.	.	ENSG00000101307	ENST00000381605;ENST00000381603;ENST00000262929	T;T;T	0.02944	4.1;4.64;4.65	3.84	-0.403	0.12400	.	0.499227	0.16857	N	0.196706	T	0.02533	0.0077	L	0.38175	1.15	0.09310	N	1	B;B	0.22080	0.001;0.064	B;B	0.23150	0.002;0.044	T	0.41233	-0.9520	10	0.40728	T	0.16	.	6.478	0.22047	0.0:0.4736:0.0:0.5264	.	373;156	O00241;O00241-2	SIRB1_HUMAN;.	L	373;156;155	ENSP00000371018:V373L;ENSP00000371016:V156L;ENSP00000262929:V155L	ENSP00000262929:V155L	V	-	1	0	SIRPB1	1494881	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.694000	0.01915	-0.338000	0.08413	-0.993000	0.02533	GTA		PASS	0.587	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		6	7	6	7	---	---	---	---
CST11	140880	broad.mit.edu	37	20	23433377	23433377	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr20:23433377G>T	ENST00000377009.3	-	1	105	c.72C>A	c.(70-72)taC>taA	p.Y24*	CST11_ENST00000377007.3_Nonsense_Mutation_p.Y24*	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	24					defense response to bacterium (GO:0042742)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.Y24*(1)		kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TCCTTGCTTGGTAGGGGAGGG	0.517																																						uc002wtf.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(70-72)TAC>TAA		cystatin 11 isoform 1 precursor							102.0	88.0	93.0					20																	23433377		2203	4300	6503	SO:0001587	stop_gained	140880				defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity	g.chr20:23433377G>T	AL096677	CCDS13154.1, CCDS13155.1	20p11.21	2012-08-14			ENSG00000125831	ENSG00000125831			15959	protein-coding gene	gene with protein product		609731		CST8L		20565543	Standard	NM_080830		Approved	dJ322G13.6, CTES2	uc002wtf.1	Q9H112	OTTHUMG00000032060	ENST00000377009.3:c.72C>A	20.37:g.23433377G>T	ENSP00000366208:p.Tyr24*					CST11_uc002wtg.1_Nonsense_Mutation_p.Y24*	p.Y24*	NM_130794	NP_570612	Q9H112	CST11_HUMAN			1	106	-	Colorectal(13;0.0431)|Lung NSC(19;0.235)		24					Q0VAF2|Q0VAF3|Q8WXU5|Q8WXU6|Q9H113	Nonsense_Mutation	SNP	ENST00000377009.3	37	c.72C>A	CCDS13155.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465769	0.84425	.	.	ENSG00000125831	ENST00000377009;ENST00000377007	.	.	.	3.86	-0.577	0.11727	.	0.920745	0.09107	N	0.847528	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.209	2.8977	0.05696	0.357:0.0:0.4459:0.1971	.	.	.	.	X	24	.	ENSP00000366206:Y24X	Y	-	3	2	CST11	23381377	0.105000	0.21958	0.000000	0.03702	0.640000	0.38277	0.385000	0.20685	-0.060000	0.13132	0.650000	0.86243	TAC		PASS	0.517	CST11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078314.1	NM_130794		41	115	41	115	---	---	---	---
APMAP	57136	broad.mit.edu	37	20	24950913	24950913	+	Silent	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr20:24950913C>T	ENST00000217456.2	-	6	923	c.633G>A	c.(631-633)aaG>aaA	p.K211K	APMAP_ENST00000447138.1_Silent_p.K211K	NM_020531.2	NP_065392.1	Q9HDC9	APMAP_HUMAN	adipocyte plasma membrane associated protein	211					biosynthetic process (GO:0009058)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	arylesterase activity (GO:0004064)|strictosidine synthase activity (GO:0016844)	p.K211K(1)									TGAAATAAATCTTCCTCCCAT	0.512																																						uc002wty.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(631-633)AAG>AAA		chromosome 20 open reading frame 3							240.0	207.0	218.0					20																	24950913		2203	4300	6503	SO:0001819	synonymous_variant	57136				biosynthetic process	cell surface|integral to membrane	arylesterase activity|strictosidine synthase activity	g.chr20:24950913C>T	AB033767	CCDS13166.1	20p11.2	2012-07-20	2012-07-20	2012-07-20	ENSG00000101474	ENSG00000101474			13238	protein-coding gene	gene with protein product		615884	"""chromosome 20 open reading frame 3"""	C20orf3		10945474, 11583587, 20552250	Standard	NM_020531		Approved	BSCv	uc002wty.3	Q9HDC9	OTTHUMG00000032107	ENST00000217456.2:c.633G>A	20.37:g.24950913C>T						C20orf3_uc002wtz.2_Silent_p.K211K|C20orf3_uc010zsw.1_Silent_p.K211K	p.K211K	NM_020531	NP_065392	Q9HDC9	APMAP_HUMAN			6	734	-			211			Extracellular (Potential).		A8K514|B4DXG1|Q6UVZ8|Q9GZS8|Q9NUB2	Silent	SNP	ENST00000217456.2	37	c.633G>A	CCDS13166.1	.	.	.	.	.	.	.	.	.	.	C	9.175	1.022013	0.19433	.	.	ENSG00000101474	ENST00000451442	.	.	.	5.56	4.56	0.56223	.	.	.	.	.	T	0.55955	0.1953	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53351	-0.8451	4	.	.	.	-29.589	6.4534	0.21916	0.0:0.7625:0.0:0.2375	.	.	.	.	K	196	.	.	R	-	2	0	C20orf3	24898913	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.101000	0.50283	1.199000	0.43173	0.655000	0.94253	AGA		PASS	0.512	APMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078380.2	NM_020531		105	248	105	248	---	---	---	---
XKR7	343702	broad.mit.edu	37	20	30584970	30584970	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr20:30584970C>T	ENST00000562532.2	+	3	1624	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	484						integral component of membrane (GO:0016021)		p.R484W(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGGTGCTGAGCGGGATGGGGC	0.687																																						uc002wxe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(1450-1452)CGG>TGG		XK, Kell blood group complex subunit-related							29.0	30.0	30.0					20																	30584970		2203	4299	6502	SO:0001583	missense	343702					integral to membrane		g.chr20:30584970C>T	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.1450C>T	20.37:g.30584970C>T	ENSP00000477059:p.Arg484Trp						p.R484W	NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	1624	+			484					Q9NUG5	Missense_Mutation	SNP	ENST00000562532.2	37	c.1450C>T	CCDS33459.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151743	0.57151	.	.	ENSG00000101321	ENST00000217299	.	.	.	4.85	0.158	0.14942	.	0.214074	0.38837	N	0.001553	T	0.72542	0.3473	M	0.62723	1.935	0.44937	D	0.997957	D	0.89917	1.0	D	0.67548	0.952	T	0.75218	-0.3395	9	0.87932	D	0	-8.0976	13.7123	0.62675	0.526:0.474:0.0:0.0	.	484	Q5GH72	XKR7_HUMAN	W	484	.	ENSP00000217299:R484W	R	+	1	2	XKR7	30048631	0.713000	0.27926	0.998000	0.56505	0.888000	0.51559	-0.269000	0.08596	0.191000	0.20236	0.561000	0.74099	CGG		PASS	0.687	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718		45	64	45	64	---	---	---	---
NOL4L	140688	broad.mit.edu	37	20	31062443	31062443	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr20:31062443T>A	ENST00000359676.5	-	2	212	c.70A>T	c.(70-72)Agg>Tgg	p.R24W	C20orf112_ENST00000375678.3_Missense_Mutation_p.R133W|C20orf112_ENST00000475781.1_5'UTR|C20orf112_ENST00000326071.4_Missense_Mutation_p.R24W|C20orf112_ENST00000375677.1_Missense_Mutation_p.R46W	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		24						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R24W(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						CTCCGCATCCTCTCGTCCTGG	0.627																																						uc002wxu.3																			1	Substitution - Missense(1)		lung(1)		0						c.(70-72)AGG>TGG		hypothetical protein LOC140688							54.0	51.0	52.0					20																	31062443		2203	4300	6503	SO:0001583	missense	140688							g.chr20:31062443T>A																												ENST00000359676.5:c.70A>T	20.37:g.31062443T>A	ENSP00000352704:p.Arg24Trp					C20orf112_uc010gec.2_5'UTR|C20orf112_uc002wxv.3_Missense_Mutation_p.R24W|C20orf112_uc002wxw.1_RNA	p.R24W	NM_080616	NP_542183	Q96MY1	CT112_HUMAN			2	227	-			24					Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Missense_Mutation	SNP	ENST00000359676.5	37	c.70A>T	CCDS13202.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.537778	0.85917	.	.	ENSG00000197183	ENST00000359676;ENST00000397984;ENST00000326071;ENST00000375677;ENST00000375678	.	.	.	5.2	4.11	0.48088	.	0.314665	0.32218	N	0.006401	T	0.67505	0.2900	L	0.49126	1.545	0.80722	D	1	D;P	0.89917	1.0;0.932	D;P	0.83275	0.996;0.509	T	0.69731	-0.5066	9	0.87932	D	0	-25.0072	9.3774	0.38292	0.0:0.0852:0.0:0.9148	.	24;24	Q5JYB6;Q96MY1	.;CT112_HUMAN	W	24;24;24;46;133	.	ENSP00000317413:R24W	R	-	1	2	C20orf112	30526104	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.550000	0.53691	1.968000	0.57251	0.459000	0.35465	AGG		PASS	0.627	C20orf112-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078628.2			23	78	23	78	---	---	---	---
ZFP64	55734	broad.mit.edu	37	20	50803458	50803458	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr20:50803458C>A	ENST00000216923.4	-	2	548	c.199G>T	c.(199-201)Gtc>Ttc	p.V67F	ZFP64_ENST00000361387.2_Missense_Mutation_p.V67F|ZFP64_ENST00000371518.2_Missense_Mutation_p.V67F|ZFP64_ENST00000371515.4_Missense_Mutation_p.V65F|ZFP64_ENST00000346617.4_Missense_Mutation_p.V67F	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	67					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.V67F(3)		breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						ACAAACTGGACCGTGCTGGGG	0.572																																						uc002xwl.2																			3	Substitution - Missense(3)		lung(3)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(199-201)GTC>TTC		zinc finger protein 64 isoform a							123.0	107.0	113.0					20																	50803458		2203	4300	6503	SO:0001583	missense	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50803458C>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.199G>T	20.37:g.50803458C>A	ENSP00000216923:p.Val67Phe					ZFP64_uc002xwk.2_Missense_Mutation_p.V67F|ZFP64_uc002xwm.2_Missense_Mutation_p.V65F|ZFP64_uc002xwn.2_Missense_Mutation_p.V67F	p.V67F	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN			2	548	-			67					Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	c.199G>T	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205280	0.39003	.	.	ENSG00000020256	ENST00000371518;ENST00000361387;ENST00000216923;ENST00000346617;ENST00000371515;ENST00000371516	T;T;T;T;T	0.08282	3.2;3.21;3.11;3.17;3.11	5.6	3.63	0.41609	.	0.243427	0.28465	N	0.015244	T	0.20414	0.0491	L	0.54323	1.7	0.40905	D	0.984186	P;D;D;P	0.71674	0.9;0.998;0.998;0.747	P;D;D;B	0.66084	0.651;0.941;0.941;0.34	T	0.00484	-1.1712	10	0.87932	D	0	-30.8565	10.4745	0.44657	0.1342:0.7963:0.0:0.0695	.	67;65;67;67	Q9NPA5-2;Q5JWM1;Q9NPA5;Q9NTW7	.;.;ZF64A_HUMAN;ZF64B_HUMAN	F	67;67;67;67;65;67	ENSP00000360573:V67F;ENSP00000355179:V67F;ENSP00000216923:V67F;ENSP00000344615:V67F;ENSP00000360570:V65F	ENSP00000216923:V67F	V	-	1	0	ZFP64	50236865	0.998000	0.40836	0.580000	0.28601	0.052000	0.14988	4.084000	0.57650	0.696000	0.31696	-0.136000	0.14681	GTC		PASS	0.572	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		20	54	20	54	---	---	---	---
KCNQ2	3785	broad.mit.edu	37	20	62038177	62038177	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr20:62038177G>T	ENST00000359125.2	-	17	2613	c.2439C>A	c.(2437-2439)aaC>aaA	p.N813K	KCNQ2_ENST00000357249.2_Missense_Mutation_p.N795K|KCNQ2_ENST00000360480.3_Missense_Mutation_p.N785K|KCNQ2_ENST00000354587.3_Missense_Mutation_p.N821K|KCNQ2_ENST00000344462.4_Missense_Mutation_p.N782K|KCNQ2_ENST00000359689.1_Missense_Mutation_p.N813K|KCNQ2_ENST00000370224.1_Missense_Mutation_p.N821K	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	813					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.N813K(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GAGCATCCAGGTTCTCCTTGG	0.617																																						uc002yey.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(2437-2439)AAC>AAA		potassium voltage-gated channel KQT-like protein	Amitriptyline(DB00321)						72.0	46.0	55.0					20																	62038177		2197	4300	6497	SO:0001583	missense	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62038177G>T	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.2439C>A	20.37:g.62038177G>T	ENSP00000352035:p.Asn813Lys					KCNQ2_uc002yez.1_Missense_Mutation_p.N782K|KCNQ2_uc002yfa.1_Missense_Mutation_p.N795K|KCNQ2_uc002yfb.1_Missense_Mutation_p.N785K	p.N813K	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		17	2616	-	all_cancers(38;1.24e-11)		813			Cytoplasmic (Potential).		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	c.2439C>A	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.811756	0.70797	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224	T;T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	4.95	3.98	0.46160	.	0.107640	0.64402	D	0.000011	T	0.33381	0.0861	L	0.40543	1.245	0.40390	D	0.979531	P;P;P;P	0.43826	0.673;0.818;0.459;0.566	B;B;B;B	0.40702	0.225;0.311;0.173;0.338	T	0.19192	-1.0313	10	0.72032	D	0.01	-23.3592	8.349	0.32290	0.1301:0.1574:0.7125:0.0	.	785;795;782;813	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	K	795;813;783;821;813;782;785;809;821	ENSP00000349789:N795K;ENSP00000352035:N813K;ENSP00000359246:N783K;ENSP00000346601:N821K;ENSP00000352718:N813K;ENSP00000399612:N782K;ENSP00000353668:N785K;ENSP00000339611:N809K;ENSP00000359244:N821K	ENSP00000339611:N809K	N	-	3	2	KCNQ2	61508621	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.142000	0.31540	1.053000	0.40415	0.491000	0.48974	AAC		PASS	0.617	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		7	28	7	28	---	---	---	---
ZBTB46	140685	broad.mit.edu	37	20	62421833	62421833	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr20:62421833G>A	ENST00000245663.4	-	2	428	c.278C>T	c.(277-279)gCg>gTg	p.A93V	ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000395104.1_Missense_Mutation_p.A93V|ZBTB46_ENST00000302995.2_Missense_Mutation_p.A93V	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	93	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.A93V(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CGCCAGGTGCGCTGAGTACAT	0.602																																						uc002ygv.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(277-279)GCG>GTG		zinc finger and BTB domain containing 46							67.0	57.0	60.0					20																	62421833		2203	4300	6503	SO:0001583	missense	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62421833G>A	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.278C>T	20.37:g.62421833G>A	ENSP00000245663:p.Ala93Val					ZBTB46_uc002ygu.2_RNA	p.A93V	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN			2	479	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		93			BTB.		E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	ENST00000245663.4	37	c.278C>T	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.992077	0.74703	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.71103	-0.54;-0.54;-0.54	5.62	5.62	0.85841	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.78679	0.4321	L	0.31845	0.965	0.48571	D	0.999675	D	0.89917	1.0	D	0.81914	0.995	T	0.80493	-0.1358	10	0.87932	D	0	.	18.6368	0.91382	0.0:0.0:1.0:0.0	.	93	Q86UZ6	ZBT46_HUMAN	V	93	ENSP00000245663:A93V;ENSP00000303102:A93V;ENSP00000378536:A93V	ENSP00000245663:A93V	A	-	2	0	ZBTB46	61892277	1.000000	0.71417	0.970000	0.41538	0.557000	0.35523	5.346000	0.65992	2.655000	0.90218	0.655000	0.94253	GCG		PASS	0.602	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		5	57	5	57	---	---	---	---
NCAM2	4685	broad.mit.edu	37	21	22838977	22838977	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr21:22838977G>C	ENST00000400546.1	+	13	1954	c.1705G>C	c.(1705-1707)Gtt>Ctt	p.V569L	NCAM2_ENST00000284894.7_Missense_Mutation_p.V427L	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	569	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V569L(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TGAAATCAGGGTTGCAGCTGT	0.299																																						uc002yld.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1705-1707)GTT>CTT		neural cell adhesion molecule 2 precursor							41.0	37.0	39.0					21																	22838977		1819	4068	5887	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22838977G>C		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1705G>C	21.37:g.22838977G>C	ENSP00000383392:p.Val569Leu					NCAM2_uc011acb.1_Missense_Mutation_p.V427L	p.V569L	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	13	1954	+		Lung NSC(9;0.195)	569			Fibronectin type-III 1.|Extracellular (Potential).		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.1705G>C	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091751	0.36952	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.72282	-0.64;-0.64	4.64	4.64	0.57946	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.78742	0.4331	M	0.65320	2	0.80722	D	1	D	0.64830	0.994	D	0.77004	0.989	T	0.74535	-0.3633	10	0.02654	T	1	-14.7961	16.4245	0.83810	0.0:0.0:1.0:0.0	.	569	O15394	NCAM2_HUMAN	L	569;427	ENSP00000383392:V569L;ENSP00000284894:V427L	ENSP00000284894:V427L	V	+	1	0	NCAM2	21760848	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.834000	0.92094	2.293000	0.77203	0.591000	0.81541	GTT		PASS	0.299	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		35	34	35	34	---	---	---	---
SYNJ1	8867	broad.mit.edu	37	21	34072214	34072214	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr21:34072214C>A	ENST00000322229.7	-	3	412	c.413G>T	c.(412-414)aGt>aTt	p.S138I	SYNJ1_ENST00000433931.2_Missense_Mutation_p.S177I|SYNJ1_ENST00000382499.2_Missense_Mutation_p.S177I|SYNJ1_ENST00000382491.3_Missense_Mutation_p.S138I|SYNJ1_ENST00000357345.3_Missense_Mutation_p.S138I			O43426	SYNJ1_HUMAN	synaptojanin 1	138	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.S138I(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CAAATCTAAACTGATGCCAGA	0.388																																						uc002yqh.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(529-531)AGT>ATT		synaptojanin 1 isoform a							64.0	63.0	63.0					21																	34072214		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34072214C>A	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.413G>T	21.37:g.34072214C>A	ENSP00000322234:p.Ser138Ile					SYNJ1_uc011ads.1_Missense_Mutation_p.S138I|SYNJ1_uc002yqf.2_Missense_Mutation_p.S138I|SYNJ1_uc002yqg.2_Missense_Mutation_p.S138I|SYNJ1_uc002yqi.2_Missense_Mutation_p.S177I	p.S177I	NM_003895	NP_003886	O43426	SYNJ1_HUMAN			4	530	-			138			SAC.		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.530G>T	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.959989	0.92791	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236;ENST00000456084	T;T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27;0.27	5.6	5.6	0.85130	Synaptojanin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.74891	0.3776	M	0.76727	2.345	0.80722	D	1	D;P;D;D;D	0.67145	0.969;0.907;0.989;0.983;0.996	P;P;P;P;P	0.61003	0.882;0.658;0.868;0.818;0.865	T	0.76487	-0.2941	10	0.59425	D	0.04	.	19.6209	0.95654	0.0:1.0:0.0:0.0	.	138;177;138;138;138	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	I	138;138;177;177;138;138;138	ENSP00000371931:S138I;ENSP00000349903:S138I;ENSP00000371939:S177I;ENSP00000409667:S177I;ENSP00000322234:S138I;ENSP00000413649:S138I;ENSP00000412707:S138I	ENSP00000322234:S138I	S	-	2	0	SYNJ1	32994085	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.375000	0.79646	2.646000	0.89796	0.585000	0.79938	AGT		PASS	0.388	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				4	100	4	100	---	---	---	---
RCAN1	1827	broad.mit.edu	37	21	35893929	35893929	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr21:35893929C>A	ENST00000313806.4	-	3	584	c.454G>T	c.(454-456)Gct>Tct	p.A152S	RCAN1_ENST00000487990.1_Missense_Mutation_p.A17S|RCAN1_ENST00000381132.2_Missense_Mutation_p.A97S|RCAN1_ENST00000399272.1_Missense_Mutation_p.A71S|RCAN1_ENST00000492600.1_Missense_Mutation_p.A97S|RCAN1_ENST00000443408.2_Missense_Mutation_p.A17S|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000381135.3_Missense_Mutation_p.A142S|RCAN1_ENST00000482533.1_Missense_Mutation_p.A17S|RCAN1_ENST00000481448.1_Missense_Mutation_p.A142S	NM_004414.5	NP_004405.3	P53805	RCAN1_HUMAN	regulator of calcineurin 1	152					blood circulation (GO:0008015)|calcineurin-NFAT signaling cascade (GO:0033173)|central nervous system development (GO:0007417)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|response to ischemia (GO:0002931)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)|signal transduction (GO:0007165)|skeletal muscle fiber development (GO:0048741)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A97S(1)|p.A152S(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						TTTGGCGGAGCCAGGTGTGAG	0.527																																						uc002yue.2																			2	Substitution - Missense(2)		lung(2)		0						c.(454-456)GCT>TCT		calcipressin 1 isoform a							88.0	89.0	89.0					21																	35893929		2203	4300	6503	SO:0001583	missense	1827				blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:35893929C>A		CCDS13637.1, CCDS33551.1, CCDS42921.1, CCDS74788.1, CCDS74790.1	21q22.1-q22.2	2010-08-11	2007-06-26	2007-06-26	ENSG00000159200	ENSG00000159200			3040	protein-coding gene	gene with protein product		602917	"""Down syndrome critical region gene 1"""	DSCR1		8595418	Standard	XM_005260929		Approved		uc002yue.3	P53805	OTTHUMG00000086235	ENST00000313806.4:c.454G>T	21.37:g.35893929C>A	ENSP00000320768:p.Ala152Ser					RCAN1_uc002yuc.2_Missense_Mutation_p.A71S|RCAN1_uc002yud.2_Missense_Mutation_p.A17S|RCAN1_uc002yub.2_Missense_Mutation_p.A97S|RCAN1_uc011adx.1_Missense_Mutation_p.A97S	p.A152S	NM_004414	NP_004405	P53805	RCAN1_HUMAN			3	526	-			152					D3DSF9|O00582|O00583|Q53XT0|Q6IBC6|Q7Z555|Q96R03|Q9BU69|Q9UF15|Q9UME4	Missense_Mutation	SNP	ENST00000313806.4	37	c.454G>T	CCDS13637.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031334	0.75504	.	.	ENSG00000159200	ENST00000487990;ENST00000313806;ENST00000381132;ENST00000399272;ENST00000481448;ENST00000482533;ENST00000381135;ENST00000443408	.	.	.	5.61	4.73	0.59995	.	0.049616	0.85682	D	0.000000	T	0.69151	0.3079	L	0.50333	1.59	0.47547	D	0.999453	D;D;P;D	0.69078	0.994;0.994;0.59;0.997	P;D;B;D	0.79108	0.9;0.932;0.111;0.992	T	0.67581	-0.5634	9	0.35671	T	0.21	-6.9302	14.0096	0.64488	0.0:0.9269:0.0:0.073	.	97;152;71;97	B7Z1F0;P53805;P53805-3;Q6FGP2	.;RCAN1_HUMAN;.;.	S	17;152;97;71;142;17;142;17	.	ENSP00000320768:A152S	A	-	1	0	RCAN1	34815799	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	4.655000	0.61476	1.373000	0.46208	0.655000	0.94253	GCT		PASS	0.527	RCAN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194142.1			9	34	9	34	---	---	---	---
DNMT3L	29947	broad.mit.edu	37	21	45670819	45670819	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr21:45670819G>T	ENST00000418993.1	-	10	1266	c.783C>A	c.(781-783)ttC>ttA	p.F261L	AP001059.5_ENST00000442785.1_RNA|DNMT3L_ENST00000270172.3_Missense_Mutation_p.F261L	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	261					chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)	p.F261L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		GGTGGAACTGGAACAGGTACC	0.662																																						uc002zeg.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(781-783)TTC>TTA		cytosine-5-methyltransferase 3-like protein							24.0	22.0	23.0					21																	45670819		2199	4299	6498	SO:0001583	missense	29947				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding	g.chr21:45670819G>T	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"""cytosine-5-methyltransferase 3-like protein"", ""human cytosine-5-methyltransferase 3-like protein"""	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.783C>A	21.37:g.45670819G>T	ENSP00000412862:p.Phe261Leu					DNMT3L_uc002zeh.1_Missense_Mutation_p.F261L	p.F261L	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN		Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)	10	1267	-			261	F->A: Loss of binding to DNMT3A.				E9PB42|Q9BUJ4	Missense_Mutation	SNP	ENST00000418993.1	37	c.783C>A	CCDS46650.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.64|14.64	2.596091|2.596091	0.46318|0.46318	.|.	.|.	ENSG00000142182|ENSG00000142182	ENST00000270172;ENST00000418993;ENST00000431166|ENST00000436357	T;T;T|.	0.30714|.	1.52;1.52;1.52|.	3.53|3.53	2.63|2.63	0.31362|0.31362	.|.	0.232813|.	0.35708|.	N|.	0.003033|.	T|T	0.39784|0.39784	0.1091|0.1091	N|N	0.25286|0.25286	0.73|0.73	0.41280|0.41280	D|D	0.986902|0.986902	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.11084|0.11084	-1.0602|-1.0602	10|5	0.51188|.	T|.	0.08|.	-13.7714|-13.7714	7.4063|7.4063	0.26993|0.26993	0.1298:0.0:0.8702:0.0|0.1298:0.0:0.8702:0.0	.|.	261;261|.	Q9UJW3-2;Q9UJW3|.	.;DNM3L_HUMAN|.	L|Y	261;261;246|56	ENSP00000270172:F261L;ENSP00000412862:F261L;ENSP00000400242:F246L|.	ENSP00000270172:F261L|.	F|S	-|-	3|2	2|0	DNMT3L|DNMT3L	44495247|44495247	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	0.841000|0.841000	0.27613|0.27613	0.756000|0.756000	0.33013|0.33013	0.555000|0.555000	0.69702|0.69702	TTC|TCC		PASS	0.662	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1	NM_013369		3	5	3	5	---	---	---	---
KRTAP10-8	386681	broad.mit.edu	37	21	46032303	46032303	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr21:46032303C>G	ENST00000334662.2	+	1	308	c.286C>G	c.(286-288)Cct>Gct	p.P96A	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	96	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.P96A(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CTCCTGCACACCTTCATGCTG	0.662																																						uc002zfo.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|breast(1)	2						c.(286-288)CCT>GCT		keratin associated protein 10-8							88.0	83.0	85.0					21																	46032303		2203	4300	6503	SO:0001583	missense	386681					keratin filament		g.chr21:46032303C>G	AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"""Keratin associated proteins"""	20525	protein-coding gene	gene with protein product			"""keratin associated protein 18-8"""	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.286C>G	21.37:g.46032303C>G	ENSP00000335565:p.Pro96Ala					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.P96A	NM_198695	NP_941968	P60410	KR108_HUMAN			1	308	+			96			19 X 5 AA repeats of C-C-X(3).		A0JNW4	Missense_Mutation	SNP	ENST00000334662.2	37	c.286C>G	CCDS13713.1	.	.	.	.	.	.	.	.	.	.	c	2.755	-0.259155	0.05791	.	.	ENSG00000187766	ENST00000334662	T	0.01178	5.22	3.59	1.74	0.24563	.	.	.	.	.	T	0.01905	0.0060	M	0.81614	2.55	0.09310	N	0.999999	P	0.43024	0.798	B	0.36289	0.221	T	0.42413	-0.9453	9	0.59425	D	0.04	.	6.0109	0.19575	0.0:0.6476:0.0:0.3524	.	96	P60410	KR108_HUMAN	A	96	ENSP00000335565:P96A	ENSP00000335565:P96A	P	+	1	0	KRTAP10-8	44856731	0.013000	0.17824	0.004000	0.12327	0.027000	0.11550	1.048000	0.30379	0.167000	0.19631	-0.253000	0.11424	CCT		PASS	0.662	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128035.1	NM_198695		46	53	46	53	---	---	---	---
COL18A1	80781	broad.mit.edu	37	21	46932276	46932276	+	Silent	SNP	C	C	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr21:46932276C>G	ENST00000359759.4	+	41	5250	c.5229C>G	c.(5227-5229)ctC>ctG	p.L1743L	COL18A1_ENST00000355480.5_Silent_p.L1508L|SLC19A1_ENST00000567670.1_Intron|SLC19A1_ENST00000468508.1_5'UTR|COL18A1_ENST00000400337.2_Silent_p.L1328L			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1743	Nonhelical region 11 (NC11).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)	p.L1508L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		ACATCGTGCTCTGCATTGAGA	0.692																																						uc011afs.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(5218-5220)CTC>CTG		alpha 1 type XVIII collagen isoform 3 precursor							26.0	30.0	28.0					21																	46932276		2120	4224	6344	SO:0001819	synonymous_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46932276C>G		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.5229C>G	21.37:g.46932276C>G						COL18A1_uc002zhg.2_Silent_p.L1325L|COL18A1_uc002zhi.2_Silent_p.L1505L|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.2_Silent_p.L306L|COL18A1_uc002zhk.2_Silent_p.L150L	p.L1740L	NM_130444	NP_569711	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	42	5241	+			1743			Nonhelical region 11 (NC11).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37	c.5220C>G																																																																																					PASS	0.692	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			13	13	13	13	---	---	---	---
IGLV2-18	28814	broad.mit.edu	37	22	23077342	23077342	+	RNA	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr22:23077342C>T	ENST00000390310.2	+	0	132				D87007.1_ENST00000579613.1_RNA					immunoglobulin lambda variable 2-18																		GTCACCATCTCCTGCACTGGA	0.542																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							165.0	178.0	174.0					22																	23077342		2053	4199	6252			96610							g.chr22:23077342C>T	Z73642		22q11.2	2012-02-08			ENSG00000211664	ENSG00000211664		"""Immunoglobulins / IGL locus"""	5889	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151232		22.37:g.23077342C>T														187		+									RNA	SNP	ENST00000390310.2	37	c.10033C>T																																																																																					PASS	0.542	IGLV2-18-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321836.1	NG_000002		127	265	127	265	---	---	---	---
PIWIL3	440822	broad.mit.edu	37	22	25152463	25152463	+	Missense_Mutation	SNP	C	C	G	rs542381102		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr22:25152463C>G	ENST00000332271.5	-	5	981	c.565G>C	c.(565-567)Gag>Cag	p.E189Q	PIWIL3_ENST00000533313.1_Missense_Mutation_p.E80Q|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.E80Q	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	189					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)	p.E189Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTAACCCGCTCTTTTAGTGGC	0.328																																						uc003abd.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(565-567)GAG>CAG		piwi-like 3							68.0	68.0	68.0					22																	25152463		2203	4300	6503	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25152463C>G	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.565G>C	22.37:g.25152463C>G	ENSP00000330031:p.Glu189Gln					PIWIL3_uc011ajx.1_Missense_Mutation_p.E80Q|PIWIL3_uc011ajy.1_Missense_Mutation_p.E80Q|PIWIL3_uc010gut.1_Missense_Mutation_p.E189Q	p.E189Q	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN			5	982	-			189						Missense_Mutation	SNP	ENST00000332271.5	37	c.565G>C	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	2.136	-0.397927	0.04865	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.14516	2.5;2.5;2.5	2.52	-4.6	0.03390	Argonaute/Dicer protein, PAZ (1);	3.918710	0.01989	U	0.045369	T	0.07052	0.0179	L	0.29908	0.895	0.09310	N	1	B;B;B	0.25563	0.073;0.012;0.129	B;B;B	0.20184	0.017;0.013;0.028	T	0.22977	-1.0201	10	0.07482	T	0.82	0.0331	1.0361	0.01548	0.1885:0.387:0.1903:0.2342	.	80;189;189	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	Q	189;80;80	ENSP00000330031:E189Q;ENSP00000431843:E80Q;ENSP00000435718:E80Q	ENSP00000330031:E189Q	E	-	1	0	PIWIL3	23482463	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	0.154000	0.16343	-1.127000	0.02925	0.462000	0.41574	GAG		PASS	0.328	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		27	44	27	44	---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26299711	26299712	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr22:26299711_26299712GG>TT	ENST00000407587.2	+	31	5233_5234	c.5064_5065GG>TT	c.(5062-5067)aaGGag>aaTTag	p.1688_1689KE>N*	CTA-125H2.2_ENST00000609157.1_RNA|CTA-125H2.2_ENST00000609889.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|MYO18B_ENST00000536101.1_Nonsense_Mutation_p.1687_1688KE>N*|MYO18B_ENST00000536204.1_3'UTR|CTA-125H2.2_ENST00000609570.1_RNA|MYO18B_ENST00000335473.7_Nonsense_Mutation_p.1687_1688KE>N*|CTA-125H2.2_ENST00000609275.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000453457.3_RNA|CTA-125H2.2_ENST00000608115.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000608257.1_RNA			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1687	Gln-rich.|Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K1688_E1689>N*(1)|p.E1689*(1)|p.K1688N(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTGGCTTGAAGGAGAGGCTCTG	0.554																																						uc003abz.1																			3	Substitution - Missense(1)|Substitution - Nonsense(1)|Complex - compound substitution(1)		lung(3)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(5059-5061)AAG>AAT|c.(5062-5064)GAG>TAG		myosin XVIIIB																																				SO:0001587	stop_gained	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26299711G>T|g.chr22:26299712G>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	Exception_encountered	22.37:g.26299711_26299712delinsTT	ENSP00000386096:p.K1688_E1689delinsN*					MYO18B_uc003aca.1_Missense_Mutation_p.K1568N|MYO18B_uc010guy.1_Missense_Mutation_p.K1569N|MYO18B_uc010guz.1_Missense_Mutation_p.K1567N|MYO18B_uc011aka.1_Missense_Mutation_p.K841N|MYO18B_uc011akb.1_Missense_Mutation_p.K1200N|MYO18B_uc003aca.1_Nonsense_Mutation_p.E1569*|MYO18B_uc010guy.1_Nonsense_Mutation_p.E1570*|MYO18B_uc010guz.1_Nonsense_Mutation_p.E1568*|MYO18B_uc011aka.1_Nonsense_Mutation_p.E842*|MYO18B_uc011akb.1_Nonsense_Mutation_p.E1201*	p.K1687N|p.E1688*	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			31	5311|5312	+			1687|1688			Potential.|Tail.|Gln-rich.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000407587.2	37	c.5061G>T|c.5062G>T																																																																																					PASS	0.554	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		6	11	6	11	---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26351204	26351204	+	Silent	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr22:26351204G>A	ENST00000407587.2	+	39	6202	c.6033G>A	c.(6031-6033)gcG>gcA	p.A2011A	MYO18B_ENST00000536101.1_Silent_p.A2010A|MYO18B_ENST00000335473.7_Silent_p.A2010A			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2010	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A2011A(2)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TTTCACAGGCGGCCACCTCCG	0.647																																						uc003abz.1																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(6028-6030)GCG>GCA		myosin XVIIIB							19.0	24.0	22.0					22																	26351204		1938	4124	6062	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26351204G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6033G>A	22.37:g.26351204G>A						MYO18B_uc003aca.1_Silent_p.A1891A|MYO18B_uc010guy.1_Silent_p.A1892A|MYO18B_uc010guz.1_Silent_p.A1890A|MYO18B_uc011aka.1_Silent_p.A1164A|MYO18B_uc011akb.1_Silent_p.A1523A|MYO18B_uc010gva.1_Silent_p.A8A	p.A2010A	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			39	6280	+			2010			Tail.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.6030G>A																																																																																					PASS	0.647	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		7	16	7	16	---	---	---	---
ENTHD1	150350	broad.mit.edu	37	22	40161479	40161479	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr22:40161479G>T	ENST00000325157.6	-	6	1218	c.968C>A	c.(967-969)gCa>gAa	p.A323E		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	323								p.A323E(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					AAGACCTTCTGCAGCTGATTG	0.398																																						uc003ayg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(967-969)GCA>GAA		ENTH domain containing 1							96.0	98.0	97.0					22																	40161479		2203	4300	6503	SO:0001583	missense	150350							g.chr22:40161479G>T	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.968C>A	22.37:g.40161479G>T	ENSP00000317431:p.Ala323Glu						p.A323E	NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN			6	1219	-	Melanoma(58;0.0749)		323					B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	c.968C>A	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538448	0.27475	.	.	ENSG00000176177	ENST00000325157	T	0.47177	0.85	5.71	-0.358	0.12575	.	0.795641	0.11183	N	0.590771	T	0.34135	0.0887	L	0.56769	1.78	0.09310	N	1	P	0.35077	0.483	B	0.33392	0.163	T	0.22765	-1.0207	10	0.30078	T	0.28	-0.5238	0.8559	0.01182	0.2708:0.1501:0.4039:0.1752	.	323	Q8IYW4	ENTD1_HUMAN	E	323	ENSP00000317431:A323E	ENSP00000317431:A323E	A	-	2	0	ENTHD1	38491425	0.001000	0.12720	0.000000	0.03702	0.538000	0.34931	0.483000	0.22292	0.350000	0.24002	0.655000	0.94253	GCA		PASS	0.398	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		108	256	108	256	---	---	---	---
EP300	2033	broad.mit.edu	37	22	41565529	41565529	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr22:41565529G>A	ENST00000263253.7	+	26	5414	c.4195G>A	c.(4195-4197)Gat>Aat	p.D1399N	RP1-85F18.6_ENST00000415054.1_RNA|RNU6-375P_ENST00000517050.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1399	Acetyl-CoA binding. {ECO:0000269|PubMed:24819397}.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with histone. {ECO:0000269|PubMed:18273021}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.D1399N(5)|p.D1399Y(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATCTTACCTCGATAGTGTTCA	0.338			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3				Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		7	Substitution - Missense(7)	p.D1399Y(1)	lung(3)|upper_aerodigestive_tract(1)|stomach(1)|central_nervous_system(1)|cervix(1)	haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(4195-4197)GAT>AAT		E1A binding protein p300							98.0	93.0	95.0					22																	41565529		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41565529G>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4195G>A	22.37:g.41565529G>A	ENSP00000263253:p.Asp1399Asn						p.D1399N	NM_001429	NP_001420	Q09472	EP300_HUMAN			26	4590	+			1399	D->Y: Does not interact with TFAP2A and inhibits transcriptional coactivation of TFAP2A by CITED2. Does not inhibit interaction with CITED2, DNA-binding of TFAP2A or nuclear localization of TFAP2A or CITED2.				B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.4195G>A	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998529	0.93227	.	.	ENSG00000100393	ENST00000263253	D	0.99422	-5.88	5.55	5.55	0.83447	.	0.000000	0.46758	D	0.000275	D	0.99743	0.9898	H	0.96633	3.855	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.97288	0.9922	10	0.87932	D	0	-10.979	19.5071	0.95124	0.0:0.0:1.0:0.0	.	1399	Q09472	EP300_HUMAN	N	1399	ENSP00000263253:D1399N	ENSP00000263253:D1399N	D	+	1	0	EP300	39895475	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.760000	0.98935	2.617000	0.88574	0.557000	0.71058	GAT		PASS	0.338	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		133	186	133	186	---	---	---	---
EFCAB6	64800	broad.mit.edu	37	22	43930576	43930576	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr22:43930576G>T	ENST00000262726.7	-	30	4478	c.4225C>A	c.(4225-4227)Cac>Aac	p.H1409N	EFCAB6_ENST00000396231.2_Missense_Mutation_p.H1257N|EFCAB6-AS1_ENST00000431327.3_RNA|EFCAB6_ENST00000461800.1_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1409	Interaction with AR.|Interaction with PARK7.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.H1409N(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ACCATCTTGTGTGCATTCTGG	0.463																																						uc003bdy.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(4225-4227)CAC>AAC		CAP-binding protein complex interacting protein							106.0	88.0	94.0					22																	43930576		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43930576G>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.4225C>A	22.37:g.43930576G>T	ENSP00000262726:p.His1409Asn					EFCAB6_uc003bdz.1_Missense_Mutation_p.H1257N|EFCAB6_uc010gzi.1_Missense_Mutation_p.H1257N	p.H1409N	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			30	4440	-		Ovarian(80;0.0247)|all_neural(38;0.025)	1409			Interaction with AR.|Interaction with PARK7.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.4225C>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	5.450	0.268183	0.10349	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.14893	2.47;2.48	5.31	-3.69	0.04450	.	1.160920	0.06152	N	0.674381	T	0.09423	0.0232	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.38415	-0.9662	10	0.23302	T	0.38	-6.3039	5.2801	0.15670	0.0741:0.1017:0.3741:0.4501	.	1409	Q5THR3	EFCB6_HUMAN	N	1257;1409	ENSP00000379533:H1257N;ENSP00000262726:H1409N	ENSP00000262726:H1409N	H	-	1	0	EFCAB6	42261909	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.082000	0.11304	-0.393000	0.07739	-0.274000	0.10170	CAC		PASS	0.463	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		42	75	42	75	---	---	---	---
VCX3A	51481	broad.mit.edu	37	X	6451848	6451848	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chrX:6451848C>A	ENST00000381089.3	-	3	805	c.499G>T	c.(499-501)Gag>Tag	p.E167*	VCX3A_ENST00000398729.1_Nonsense_Mutation_p.E147*	NM_016379.3	NP_057463.2	Q9NNX9	VCX3_HUMAN	variable charge, X-linked 3A	167	8 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				brain development (GO:0007420)	nucleolus (GO:0005730)|nucleus (GO:0005634)		p.E167*(1)		NS(1)|lung(2)|pancreas(1)	4						ACCTGGCTCTCCTGACTCAGT	0.577																																						uc004crs.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(499-501)GAG>TAG		variable charge, X-linked 3A							148.0	143.0	144.0					X																	6451848		2202	4279	6481	SO:0001587	stop_gained	51481				brain development	nucleolus		g.chrX:6451848C>A	AF159128	CCDS35199.1	Xp22.31	2008-02-05	2005-01-11	2005-01-12	ENSG00000169059	ENSG00000169059			18159	protein-coding gene	gene with protein product		300533	"""variable charge, X-linked 3"""	VCX3		10607842	Standard	NM_016379		Approved	VCX-8r, VCX-8R, VCX-A	uc004crs.3	Q9NNX9	OTTHUMG00000021097	ENST00000381089.3:c.499G>T	X.37:g.6451848C>A	ENSP00000370479:p.Glu167*					VCX3A_uc010ndk.1_Intron	p.E167*	NM_016379	NP_057463	Q9NNX9	VCX3_HUMAN			3	806	-			167			8 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|7.|Glu-rich.		Q9P0H4	Nonsense_Mutation	SNP	ENST00000381089.3	37	c.499G>T	CCDS35199.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004834	0.54254	.	.	ENSG00000169059	ENST00000381089;ENST00000398729	.	.	.	0.595	0.595	0.17490	.	.	.	.	.	.	.	.	.	.	.	0.29747	N	0.836665	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	6.9999	0.24803	0.0:0.9999:0.0:1.0E-4	.	.	.	.	X	167;147	.	ENSP00000370479:E167X	E	-	1	0	VCX3A	6461848	0.000000	0.05858	0.003000	0.11579	0.010000	0.07245	0.424000	0.21330	0.597000	0.29811	0.402000	0.26972	GAG		PASS	0.577	VCX3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055679.1	NM_016379		66	299	66	299	---	---	---	---
GRPR	2925	broad.mit.edu	37	X	16170572	16170572	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chrX:16170572T>A	ENST00000380289.2	+	3	1357	c.959T>A	c.(958-960)tTt>tAt	p.F320Y	RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA|RP11-431J24.2_ENST00000435789.1_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	320					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)	p.F320Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					GTGAACCCCTTTGCCCTCTAC	0.572																																						uc004cxj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(958-960)TTT>TAT		gastrin-releasing peptide receptor							144.0	118.0	127.0					X																	16170572		2203	4300	6503	SO:0001583	missense	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16170572T>A		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.959T>A	X.37:g.16170572T>A	ENSP00000369643:p.Phe320Tyr						p.F320Y	NM_005314	NP_005305	P30550	GRPR_HUMAN			3	1612	+	Hepatocellular(33;0.183)		320			Helical; Name=7; (Potential).		B2R910	Missense_Mutation	SNP	ENST00000380289.2	37	c.959T>A	CCDS14174.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.754533	0.89843	.	.	ENSG00000126010	ENST00000380289;ENST00000535371	T	0.40756	1.02	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.68586	0.3017	M	0.90814	3.15	0.58432	D	0.999996	D	0.60575	0.988	D	0.65323	0.934	T	0.76085	-0.3088	10	0.72032	D	0.01	-18.1995	13.6963	0.62582	0.0:0.0:0.0:1.0	.	320	P30550	GRPR_HUMAN	Y	320;109	ENSP00000369643:F320Y	ENSP00000369643:F320Y	F	+	2	0	GRPR	16080493	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	1.830000	0.53286	0.486000	0.48141	TTT		PASS	0.572	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		84	208	84	208	---	---	---	---
TXLNG	55787	broad.mit.edu	37	X	16858001	16858001	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chrX:16858001G>T	ENST00000380122.5	+	9	1271	c.1210G>T	c.(1210-1212)Gaa>Taa	p.E404*	TXLNG_ENST00000398155.4_Nonsense_Mutation_p.E272*|TXLNG_ENST00000485153.1_3'UTR	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	404					cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)	protein heterodimerization activity (GO:0046982)	p.E404*(1)		breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						TACCAAATGGGAAAACAATAA	0.368																																						uc004cxq.1																			1	Substitution - Nonsense(1)		lung(1)	lung(1)	1						c.(1210-1212)GAA>TAA		gamma-taxilin							119.0	107.0	111.0					X																	16858001		2203	4300	6503	SO:0001587	stop_gained	55787				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane		g.chrX:16858001G>T	AK002071	CCDS14178.1, CCDS55373.1	Xp22.2	2014-05-07	2010-04-20	2010-04-20	ENSG00000086712	ENSG00000086712			18578	protein-coding gene	gene with protein product	"""lipopolysaccharide specific response-5 protein"", ""factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription"""	300677	"""chromosome X open reading frame 15"""	CXorf15		15911876, 15184072, 16831913	Standard	NM_018360		Approved	FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX	uc004cxq.2	Q9NUQ3	OTTHUMG00000021196	ENST00000380122.5:c.1210G>T	X.37:g.16858001G>T	ENSP00000369465:p.Glu404*					TXLNG_uc010ney.1_Nonsense_Mutation_p.E272*	p.E404*	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN			9	1261	+			404			Potential.		Q2KQ75|Q5JNZ7|Q9P0X1	Nonsense_Mutation	SNP	ENST00000380122.5	37	c.1210G>T	CCDS14178.1	.	.	.	.	.	.	.	.	.	.	G	39	7.730421	0.98459	.	.	ENSG00000086712	ENST00000380122;ENST00000398155	.	.	.	5.69	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.6607	13.635	0.62217	0.0763:0.0:0.9237:0.0	.	.	.	.	X	404;272	.	ENSP00000369465:E404X	E	+	1	0	TXLNG	16767922	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.781000	0.99029	1.156000	0.42514	0.538000	0.68166	GAA		PASS	0.368	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055912.1	NM_018360		36	121	36	121	---	---	---	---
SCML2	10389	broad.mit.edu	37	X	18283770	18283770	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chrX:18283770G>C	ENST00000251900.4	-	8	1042	c.883C>G	c.(883-885)Ccc>Gcc	p.P295A	SCML2_ENST00000398048.3_Missense_Mutation_p.P31A	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	295					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P295A(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CTCCTTTTGGGGACTGCAGTA	0.403																																					Esophageal Squamous(100;1252 1965 19021 35517)	uc004cyl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(883-885)CCC>GCC		sex comb on midleg-like 2							198.0	183.0	188.0					X																	18283770		2203	4300	6503	SO:0001583	missense	10389				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:18283770G>C	Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.883C>G	X.37:g.18283770G>C	ENSP00000251900:p.Pro295Ala					SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Missense_Mutation_p.P295A|SCML2_uc011miz.1_Missense_Mutation_p.P229A|SCML2_uc010nfc.2_Missense_Mutation_p.P31A	p.P295A	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN			8	1040	-	Hepatocellular(33;0.183)		295					Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Missense_Mutation	SNP	ENST00000251900.4	37	c.883C>G	CCDS14185.1	.	.	.	.	.	.	.	.	.	.	G	0.946	-0.707985	0.03230	.	.	ENSG00000102098	ENST00000251900;ENST00000398048;ENST00000442000	T;T	0.48836	2.21;0.8	5.39	-1.64	0.08318	.	0.517241	0.19714	N	0.107747	T	0.30103	0.0754	M	0.63843	1.955	0.31468	N	0.668737	B;B;B	0.32573	0.047;0.376;0.021	B;B;B	0.28465	0.06;0.09;0.016	T	0.49390	-0.8945	10	0.05833	T	0.94	.	4.2038	0.10480	0.3086:0.0:0.4464:0.2451	.	263;31;295	B4DZR9;B4DRC2;Q9UQR0	.;.;SCML2_HUMAN	A	295;31;263	ENSP00000251900:P295A;ENSP00000381126:P31A	ENSP00000251900:P295A	P	-	1	0	SCML2	18193691	0.006000	0.16342	0.000000	0.03702	0.018000	0.09664	-0.233000	0.09041	-1.022000	0.03346	-0.542000	0.04241	CCC		PASS	0.403	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089		68	272	68	272	---	---	---	---
KLHL34	257240	broad.mit.edu	37	X	21674689	21674689	+	Silent	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chrX:21674689C>A	ENST00000379499.2	-	1	1759	c.1218G>T	c.(1216-1218)acG>acT	p.T406T		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	406						extracellular space (GO:0005615)		p.T406T(1)		cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CGGGCACTTCCGTCCAAGCGT	0.731																																						uc004czz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1216-1218)ACG>ACT		kelch-like 34							8.0	7.0	7.0					X																	21674689		2107	4073	6180	SO:0001819	synonymous_variant	257240							g.chrX:21674689C>A	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.1218G>T	X.37:g.21674689C>A							p.T406T	NM_153270	NP_695002	Q8N239	KLH34_HUMAN			1	1760	-			406			Kelch 2.			Silent	SNP	ENST00000379499.2	37	c.1218G>T	CCDS14199.1																																																																																				PASS	0.731	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		4	6	4	6	---	---	---	---
ZNF645	158506	broad.mit.edu	37	X	22291404	22291404	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chrX:22291404C>A	ENST00000323684.1	+	1	340	c.296C>A	c.(295-297)cCt>cAt	p.P99H		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	99	HYB domain.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.P99H(1)		cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TGTCGTTATCCTGTGCTGAGA	0.418																																						uc004dai.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|pancreas(1)	2						c.(295-297)CCT>CAT		zinc finger protein 645							81.0	68.0	73.0					X																	22291404		2203	4300	6503	SO:0001583	missense	158506					intracellular	zinc ion binding	g.chrX:22291404C>A	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.296C>A	X.37:g.22291404C>A	ENSP00000323348:p.Pro99His						p.P99H	NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN			1	345	+			99					A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	ENST00000323684.1	37	c.296C>A	CCDS14205.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882663	0.51908	.	.	ENSG00000175809	ENST00000323684	T	0.33865	1.39	3.62	0.67	0.17923	Zinc finger, RING/FYVE/PHD-type (1);	0.136393	0.50627	U	0.000119	T	0.38852	0.1056	L	0.46157	1.445	0.44798	D	0.997806	P	0.44816	0.844	P	0.53518	0.728	T	0.16512	-1.0400	10	0.87932	D	0	.	5.6532	0.17629	0.2772:0.6127:0.0:0.1101	.	99	Q8N7E2	ZN645_HUMAN	H	99	ENSP00000323348:P99H	ENSP00000323348:P99H	P	+	2	0	ZNF645	22201325	0.977000	0.34250	0.007000	0.13788	0.032000	0.12392	1.200000	0.32247	0.024000	0.15214	0.529000	0.55759	CCT		PASS	0.418	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577		4	195	4	195	---	---	---	---
DMD	1756	broad.mit.edu	37	X	31165523	31165523	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chrX:31165523C>A	ENST00000357033.4	-	75	10872	c.10666G>T	c.(10666-10668)Gct>Tct	p.A3556S	DMD_ENST00000378723.3_Missense_Mutation_p.A488S|DMD_ENST00000541735.1_Missense_Mutation_p.A986S|DMD_ENST00000378677.2_Missense_Mutation_p.A3552S|DMD_ENST00000359836.1_Missense_Mutation_p.A1083S|DMD_ENST00000343523.2_Missense_Mutation_p.A986S|DMD_ENST00000378702.4_Missense_Mutation_p.A488S|DMD_ENST00000474231.1_Missense_Mutation_p.A1096S|DMD_ENST00000378680.2_Missense_Mutation_p.A378S|DMD_ENST00000361471.4_Missense_Mutation_p.A475S|DMD_ENST00000378707.3_Missense_Mutation_p.A1096S	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3556					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.A3551S(1)|p.A488S(1)|p.A2215S(1)|p.A3556S(1)|p.A3552S(1)|p.A1096S(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATGAGCTCAGCATCCCGGGGA	0.552																																						uc004dda.1																			6	Substitution - Missense(6)		lung(6)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(10666-10668)GCT>TCT		dystrophin Dp427m isoform							74.0	60.0	65.0					X																	31165523		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31165523C>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10666G>T	X.37:g.31165523C>A	ENSP00000354923:p.Ala3556Ser					DMD_uc004dcq.1_Missense_Mutation_p.A827S|DMD_uc004dcr.1_Missense_Mutation_p.A976S|DMD_uc004dcs.1_Missense_Mutation_p.A986S|DMD_uc004dct.1_Missense_Mutation_p.A1096S|DMD_uc004dcu.1_Missense_Mutation_p.A1096S|DMD_uc004dcv.1_Missense_Mutation_p.A1083S|DMD_uc004dcw.2_Missense_Mutation_p.A2212S|DMD_uc004dcx.2_Missense_Mutation_p.A2215S|DMD_uc004dcz.2_Missense_Mutation_p.A3433S|DMD_uc004dcy.1_Missense_Mutation_p.A3552S|DMD_uc004ddb.1_Missense_Mutation_p.A3548S|DMD_uc004dcm.1_Missense_Mutation_p.A488S|DMD_uc004dcn.1_Missense_Mutation_p.A475S|DMD_uc004dco.1_Missense_Mutation_p.A488S|DMD_uc004dcp.1_Missense_Mutation_p.A475S|DMD_uc011mkb.1_Missense_Mutation_p.A378S	p.A3556S	NM_004006	NP_003997	P11532	DMD_HUMAN			75	10910	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	3556					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.10666G>T	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.013775|4.013775	0.75161|0.75161	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680|ENST00000465285	T;T;T;T;T;T;T;T;T;T;T;T|.	0.61627|.	2.3;4.05;0.09;0.09;3.97;3.98;3.97;3.95;2.29;4.02;2.28;2.31|.	4.62|4.62	4.62|4.62	0.57501|0.57501	.|.	0.000000|.	0.34628|.	U|.	0.003818|.	T|T	0.37945|0.37945	0.1022|0.1022	N|N	0.21240|0.21240	0.645|0.645	0.27194|0.27194	N|N	0.960359|0.960359	D;B;D;P;P;P;B;B;B;B;B;P;B;B;B;B|.	0.69078|.	0.994;0.04;0.997;0.775;0.898;0.898;0.109;0.25;0.25;0.155;0.241;0.712;0.319;0.132;0.007;0.087|.	D;B;D;B;B;B;B;B;B;B;B;P;B;B;B;B|.	0.75020|.	0.97;0.06;0.985;0.234;0.311;0.311;0.09;0.061;0.061;0.069;0.144;0.525;0.121;0.05;0.009;0.033|.	T|T	0.27297|0.27297	-1.0078|-1.0078	10|5	0.02654|.	T|.	1|.	.|.	16.7086|16.7086	0.85379|0.85379	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	378;3548;3556;3552;2215;2212;1083;1096;1096;986;986;3433;475;488;475;488|.	B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1|.	.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.|.	S|F	3548;2215;2212;488;1239;3552;3556;1083;986;3556;3433;1096;986;488;1096;475;378|1284	ENSP00000367997:A488S;ENSP00000350765:A1239S;ENSP00000367948:A3552S;ENSP00000354923:A3556S;ENSP00000352894:A1083S;ENSP00000340057:A986S;ENSP00000367979:A1096S;ENSP00000444119:A986S;ENSP00000367974:A488S;ENSP00000417123:A1096S;ENSP00000354464:A475S;ENSP00000367951:A378S|.	ENSP00000340057:A986S|.	A|C	-|-	1|2	0|0	DMD|DMD	31075444|31075444	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.762000|5.762000	0.68809|0.68809	2.118000|2.118000	0.64928|0.64928	0.513000|0.513000	0.50165|0.50165	GCT|TGC		PASS	0.552	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		31	81	31	81	---	---	---	---
USP9X	8239	broad.mit.edu	37	X	41000371	41000371	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chrX:41000371C>A	ENST00000324545.8	+	8	1556	c.923C>A	c.(922-924)tCa>tAa	p.S308*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.S308*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	308					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.S308*(1)|p.S301*(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GATGCTCTTTCAATGATTATT	0.289																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.2																			2	Substitution - Nonsense(2)		lung(2)	lung(3)|breast(2)|ovary(1)	6						c.(922-924)TCA>TAA		ubiquitin specific protease 9, X-linked isoform							22.0	21.0	21.0					X																	41000371		2123	4240	6363	SO:0001587	stop_gained	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41000371C>A	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.923C>A	X.37:g.41000371C>A	ENSP00000316357:p.Ser308*					USP9X_uc004dfc.2_Nonsense_Mutation_p.S308*	p.S308*	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			8	1556	+			308					O75550|Q8WWT3|Q8WX12	Nonsense_Mutation	SNP	ENST00000324545.8	37	c.923C>A	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	C	38	6.794857	0.97845	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.7742	0.91904	0.0:1.0:0.0:0.0	.	.	.	.	X	308	.	ENSP00000316357:S308X	S	+	2	0	USP9X	40885315	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.379000	0.81126	0.600000	0.82982	TCA		PASS	0.289	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		29	39	29	39	---	---	---	---
CASK	8573	broad.mit.edu	37	X	41383258	41383258	+	Silent	SNP	A	A	G			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chrX:41383258A>G	ENST00000378163.1	-	26	3024	c.2550T>C	c.(2548-2550)ttT>ttC	p.F850F	CASK_ENST00000361962.4_Silent_p.F833F|CASK_ENST00000378158.1_Silent_p.F833F|CASK-AS1_ENST00000451126.1_RNA|CASK_ENST00000378166.4_Silent_p.F845F|CASK_ENST00000442742.2_Silent_p.F822F|CASK_ENST00000318588.9_Silent_p.F845F|CASK_ENST00000421587.2_Silent_p.F821F			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	850	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)	p.F845F(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CAAAAGGAGCAAACTCTGCAG	0.353																																					NSCLC(42;104 1086 3090 27189 35040)	uc004dfl.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)|stomach(1)	6						c.(2533-2535)TTT>TTC		calcium/calmodulin-dependent serine protein							106.0	91.0	96.0					X																	41383258		2202	4300	6502	SO:0001819	synonymous_variant	8573				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity	g.chrX:41383258A>G	AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.2550T>C	X.37:g.41383258A>G						CASK_uc004dfj.3_Silent_p.F390F|CASK_uc004dfk.3_Silent_p.F665F|CASK_uc004dfm.3_Silent_p.F822F|CASK_uc004dfn.3_Silent_p.F821F	p.F845F	NM_003688	NP_003679	O14936	CSKP_HUMAN			26	2581	-			850			Guanylate kinase-like.		A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Silent	SNP	ENST00000378163.1	37	c.2535T>C																																																																																					PASS	0.353	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688		9	37	9	37	---	---	---	---
USP11	8237	broad.mit.edu	37	X	47101705	47101705	+	Splice_Site	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chrX:47101705G>T	ENST00000218348.3	+	10	1533	c.1533G>T	c.(1531-1533)caG>caT	p.Q511H	USP11_ENST00000377107.2_Splice_Site_p.Q468H	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	511	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.Q511H(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						AGCCAGAGCAGGTGTGGGGCA	0.547																																						uc004dhp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1531-1533)CAG>CAT		ubiquitin specific peptidase 11							33.0	30.0	31.0					X																	47101705		2203	4300	6503	SO:0001630	splice_region_variant	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47101705G>T	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.1533+1G>T	X.37:g.47101705G>T						USP11_uc004dhq.2_Missense_Mutation_p.Q238H	p.Q511H	NM_004651	NP_004642	P51784	UBP11_HUMAN			10	1533	+			511					B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	c.1533G>T	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255307	0.80135	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.22539	1.96;1.95	5.6	5.6	0.85130	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.46014	0.1371	M	0.63428	1.95	0.58432	D	0.999999	P;D	0.76494	0.899;0.999	P;D	0.87578	0.837;0.998	T	0.40608	-0.9554	10	0.72032	D	0.01	-24.2954	17.2763	0.87116	0.0:0.0:1.0:0.0	.	238;511	B3KP28;P51784	.;UBP11_HUMAN	H	468;511	ENSP00000366311:Q468H;ENSP00000218348:Q511H	ENSP00000218348:Q511H	Q	+	3	2	USP11	46986649	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.390000	0.97246	2.346000	0.79739	0.600000	0.82982	CAG		PASS	0.547	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651	Missense_Mutation	7	26	7	26	---	---	---	---
TBC1D25	4943	broad.mit.edu	37	X	48418720	48418720	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chrX:48418720G>A	ENST00000376771.4	+	6	1765	c.1424G>A	c.(1423-1425)gGt>gAt	p.G475D	TBC1D25_ENST00000537536.1_Missense_Mutation_p.G221D|snoU13_ENST00000459609.1_RNA	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	475					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)	p.G475D(1)		large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						AGGCCTGCTGGTGGAGGAGGT	0.637																																						uc004dka.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1423-1425)GGT>GAT		TBC1 domain family, member 25							42.0	40.0	41.0					X																	48418720		2201	4299	6500	SO:0001583	missense	4943					intracellular	Rab GTPase activator activity	g.chrX:48418720G>A	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1424G>A	X.37:g.48418720G>A	ENSP00000365962:p.Gly475Asp					TBC1D25_uc011mly.1_Missense_Mutation_p.G417D|TBC1D25_uc004dkb.1_Missense_Mutation_p.G221D|TBC1D25_uc011mlz.1_Missense_Mutation_p.G221D|TBC1D25_uc011mma.1_Missense_Mutation_p.G221D|TBC1D25_uc004dkc.1_Missense_Mutation_p.G221D|TBC1D25_uc011mmb.1_Missense_Mutation_p.G479D|TBC1D25_uc011mmc.1_Missense_Mutation_p.G221D|TBC1D25_uc011mmd.1_Missense_Mutation_p.G221D	p.G475D	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN			6	1535	+			475					Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	c.1424G>A	CCDS35242.1	.	.	.	.	.	.	.	.	.	.	G	9.130	1.011135	0.19277	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.23147	1.92;1.92	5.43	5.43	0.79202	Rab-GAP/TBC domain (1);	0.944308	0.08803	N	0.891438	T	0.32496	0.0831	L	0.36672	1.1	0.44635	D	0.997618	P;P;P	0.52316	0.952;0.952;0.952	P;P;P	0.49140	0.601;0.601;0.601	T	0.02059	-1.1221	10	0.30854	T	0.27	-9.3479	15.5662	0.76294	0.0:0.0:1.0:0.0	.	479;417;475	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	D	475;221	ENSP00000365962:G475D;ENSP00000444091:G221D	ENSP00000365962:G475D	G	+	2	0	TBC1D25	48303664	0.981000	0.34729	0.300000	0.25030	0.313000	0.28021	5.318000	0.65829	2.270000	0.75569	0.429000	0.28392	GGT		PASS	0.637	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		15	71	15	71	---	---	---	---
RBM3	5935	broad.mit.edu	37	X	48433599	48433599	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chrX:48433599G>T	ENST00000376759.3	+	2	94	c.31G>T	c.(31-33)Gga>Tga	p.G11*	RBM3_ENST00000466764.1_3'UTR|RBM3_ENST00000430348.2_5'UTR|RBM3_ENST00000354480.2_5'Flank|AC115618.1_ENST00000376775.2_5'Flank|RBM3_ENST00000376755.1_Nonsense_Mutation_p.G11*	NM_006743.4	NP_006734.1	P98179	RBM3_HUMAN	RNA binding motif (RNP1, RRM) protein 3	11	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				positive regulation of translation (GO:0045727)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of translation (GO:0006417)|response to cold (GO:0009409)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|RNA binding (GO:0003723)	p.G11*(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						GCTCTTCGTGGGAGGGCTCAA	0.517											OREG0019765	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dkf.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(31-33)GGA>TGA		RNA binding motif protein 3							78.0	57.0	64.0					X																	48433599		2203	4300	6503	SO:0001587	stop_gained	5935				positive regulation of translation	dendrite|nucleus	nucleotide binding|RNA binding	g.chrX:48433599G>T	BC006825	CCDS14301.1	Xp11.2	2014-05-19	2004-04-23		ENSG00000102317	ENSG00000102317		"""RNA binding motif (RRM) containing"""	9900	protein-coding gene	gene with protein product		300027	"""RNA binding motif protein 3"""			8634703	Standard	NM_006743		Approved	IS1-RNPL	uc004dkf.2	P98179	OTTHUMG00000024121	ENST00000376759.3:c.31G>T	X.37:g.48433599G>T	ENSP00000365950:p.Gly11*		OREG0019765	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	954	RBM3_uc004dkd.1_RNA|RBM3_uc004dkg.2_Nonsense_Mutation_p.G11*	p.G11*	NM_006743	NP_006734	P98179	RBM3_HUMAN			2	170	+			11			RRM.			Nonsense_Mutation	SNP	ENST00000376759.3	37	c.31G>T	CCDS14301.1	.	.	.	.	.	.	.	.	.	.	G	32	5.131336	0.94473	.	.	ENSG00000102317	ENST00000376759;ENST00000376755	.	.	.	4.74	4.74	0.60224	.	0.000000	0.56097	U	0.000035	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.899	14.2758	0.66179	0.0:0.0:1.0:0.0	.	.	.	.	X	11	.	ENSP00000365946:G11X	G	+	1	0	RBM3	48318543	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	7.534000	0.82004	2.336000	0.79503	0.513000	0.50165	GGA		PASS	0.517	RBM3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060755.1	NM_006743		3	25	3	25	---	---	---	---
GRIPAP1	56850	broad.mit.edu	37	X	48853675	48853675	+	Missense_Mutation	SNP	G	G	C	rs371110226		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chrX:48853675G>C	ENST00000376441.1	-	5	327	c.293C>G	c.(292-294)gCc>gGc	p.A98G	GRIPAP1_ENST00000376423.4_Missense_Mutation_p.A98G|GRIPAP1_ENST00000376444.3_Intron|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.A98G	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	98						blood microparticle (GO:0072562)|endosome (GO:0005768)		p.A98G(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GCTGAACTCGGCCATTAGTGT	0.537																																						uc004dly.1																			2	Substitution - Missense(2)		lung(2)	breast(2)|kidney(1)	3						c.(292-294)GCC>GGC		GRIP1 associated protein 1 isoform 1		G	GLY/ALA,GLY/ALA	0,3833		0,0,1632,569	89.0	58.0	69.0		293,293	4.6	1.0	X		69	1,6722		0,1,2427,1867	no	missense,missense	GRIPAP1	NM_020137.3,NM_207672.1	60,60	0,1,4059,2436	CC,CG,GG,G		0.0149,0.0,0.0095	benign,benign	98/842,98/626	48853675	1,10555	2201	4295	6496	SO:0001583	missense	56850					early endosome		g.chrX:48853675G>C	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.293C>G	X.37:g.48853675G>C	ENSP00000365624:p.Ala98Gly					GRIPAP1_uc004dma.2_Missense_Mutation_p.A98G	p.A98G	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN			5	328	-			98			Potential.		A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	c.293C>G	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	g	14.51	2.557924	0.45590	0.0	1.49E-4	ENSG00000068400	ENST00000376425;ENST00000376441;ENST00000537291;ENST00000376423	T;T;T	0.24350	1.86;1.86;1.86	5.5	4.55	0.56014	.	0.497188	0.19432	N	0.114410	T	0.22360	0.0539	L	0.40543	1.245	0.23712	N	0.997048	P;P	0.36837	0.571;0.571	B;B	0.39027	0.288;0.288	T	0.12372	-1.0550	10	0.44086	T	0.13	-5.7255	9.1465	0.36937	0.0:0.0:0.6529:0.3471	.	98;98	Q4V328-2;Q4V328	.;GRAP1_HUMAN	G	98	ENSP00000365608:A98G;ENSP00000365624:A98G;ENSP00000365606:A98G	ENSP00000365606:A98G	A	-	2	0	GRIPAP1	48738619	1.000000	0.71417	0.976000	0.42696	0.984000	0.73092	3.630000	0.54273	2.322000	0.78497	0.515000	0.50301	GCC		PASS	0.537	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672		3	19	3	19	---	---	---	---
CACNA1F	778	broad.mit.edu	37	X	49065139	49065139	+	Silent	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chrX:49065139C>A	ENST00000376265.2	-	43	5053	c.4992G>T	c.(4990-4992)acG>acT	p.T1664T	CACNA1F_ENST00000376251.1_Silent_p.T1599T|CACNA1F_ENST00000323022.5_Silent_p.T1653T	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1664					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.T1664T(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGAGACCATCGTGGCCTGTG	0.562																																						uc004dnb.2																			1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(1)|kidney(1)|skin(1)	6						c.(4990-4992)ACG>ACT		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						53.0	50.0	51.0					X																	49065139		2203	4300	6503	SO:0001819	synonymous_variant	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49065139C>A	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.4992G>T	X.37:g.49065139C>A						CACNA1F_uc010nip.2_Silent_p.T1653T	p.T1664T	NM_005183	NP_005174	O60840	CAC1F_HUMAN			43	5054	-			1664			Cytoplasmic (Potential).		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP	ENST00000376265.2	37	c.4992G>T	CCDS35253.1																																																																																				PASS	0.562	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		20	88	20	88	---	---	---	---
CACNA1F	778	broad.mit.edu	37	X	49079264	49079264	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chrX:49079264A>T	ENST00000376265.2	-	16	2213	c.2152T>A	c.(2152-2154)Tat>Aat	p.Y718N	CACNA1F_ENST00000376251.1_Missense_Mutation_p.Y653N|CACNA1F_ENST00000323022.5_Missense_Mutation_p.Y707N|CACNA1F_ENST00000480889.1_5'UTR	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	718					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.Y718N(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	ATACCATCATACATGACCACG	0.542																																						uc004dnb.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|kidney(1)|skin(1)	6						c.(2152-2154)TAT>AAT		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						138.0	106.0	117.0					X																	49079264		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49079264A>T	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.2152T>A	X.37:g.49079264A>T	ENSP00000365441:p.Tyr718Asn					CACNA1F_uc010nip.2_Missense_Mutation_p.Y707N	p.Y718N	NM_005183	NP_005174	O60840	CAC1F_HUMAN			16	2214	-			718			Extracellular (Potential).|II.		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.2152T>A	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	.	17.11	3.305419	0.60305	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.97529	-4.42;-4.42;-4.42	4.49	4.49	0.54785	Ion transport (1);	0.284954	0.35349	N	0.003265	D	0.98501	0.9500	M	0.90814	3.15	0.47441	D	0.999425	D;D	0.76494	0.999;0.999	D;D	0.87578	0.997;0.998	D	0.99308	1.0903	10	0.87932	D	0	.	12.0797	0.53663	1.0:0.0:0.0:0.0	.	707;718	F5CIQ9;O60840	.;CAC1F_HUMAN	N	653;707;718	ENSP00000365427:Y653N;ENSP00000321618:Y707N;ENSP00000365441:Y718N	ENSP00000321618:Y707N	Y	-	1	0	CACNA1F	48966208	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.420000	0.80191	1.483000	0.48342	0.336000	0.21669	TAT		PASS	0.542	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		20	121	20	121	---	---	---	---
DGKK	139189	broad.mit.edu	37	X	50114795	50114795	+	RNA	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chrX:50114795G>T	ENST00000376025.2	-	0	3598							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.A948A(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TGGCATCCAGGGCGCTTTGTA	0.433																																						uc010njr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)	2						c.(3538-3540)GCC>GCA		diacylglycerol kinase kappa							124.0	111.0	115.0					X																	50114795		1981	4150	6131			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50114795G>T	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50114795G>T							p.A1180A	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			27	3600	-	Ovarian(276;0.236)		1180					B2RP91	Silent	SNP	ENST00000376025.2	37	c.3540C>A																																																																																					PASS	0.433	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		14	23	14	23	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53564623	53564623	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chrX:53564623C>A	ENST00000342160.3	-	77	12488	c.12031G>T	c.(12031-12033)Ggg>Tgg	p.G4011W	HUWE1_ENST00000262854.6_Missense_Mutation_p.G4011W			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4011					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.G4011W(1)|p.G3901W(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TTCCGGAGCCCCTCATCTAAA	0.468																																						uc004dsp.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(12031-12033)GGG>TGG		HECT, UBA and WWE domain containing 1							69.0	53.0	58.0					X																	53564623		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53564623C>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12031G>T	X.37:g.53564623C>A	ENSP00000340648:p.Gly4011Trp					HUWE1_uc004dsn.2_Missense_Mutation_p.G2819W|HUWE1_uc004dsq.1_Missense_Mutation_p.G311W	p.G4011W	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			78	12433	-			4011					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.12031G>T	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.79|15.79	2.936032|2.936032	0.52972|0.52972	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052;ENST00000426907|ENST00000342160;ENST00000262854	.|T;T	.|0.77098	.|-1.07;-1.07	5.78|5.78	5.78|5.78	0.91487|0.91487	.|HECT (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.88138|0.88138	0.6356|0.6356	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;1.0;1.0	.|D;D;D	.|0.87578	.|0.932;0.996;0.998	D|D	0.89078|0.89078	0.3474|0.3474	6|10	.|0.72032	.|D	.|0.01	.|.	15.9981|15.9981	0.80268|0.80268	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|833;4011;3995	.|Q5H935;Q7Z6Z7;Q7Z6Z7-2	.|.;HUWE1_HUMAN;.	V|W	3044;833|4011	.|ENSP00000340648:G4011W;ENSP00000262854:G4011W	.|ENSP00000262854:G4011W	G|G	-|-	2|1	0|0	HUWE1|HUWE1	53581348|53581348	1.000000|1.000000	0.71417|0.71417	0.956000|0.956000	0.39512|0.39512	0.989000|0.989000	0.77384|0.77384	6.977000|6.977000	0.76141|0.76141	2.580000|2.580000	0.87095|0.87095	0.600000|0.600000	0.82982|0.82982	GGG|GGG		PASS	0.468	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		12	21	12	21	---	---	---	---
WNK3	65267	broad.mit.edu	37	X	54321179	54321179	+	Silent	SNP	A	A	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chrX:54321179A>T	ENST00000375159.2	-	7	1499	c.1500T>A	c.(1498-1500)gcT>gcA	p.A500A	WNK3_ENST00000375169.3_Silent_p.A500A|WNK3_ENST00000354646.2_Silent_p.A500A			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	500					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A500A(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CCAAACAGCCAGCAGGCTTCT	0.478																																						uc004dtd.1																			1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						c.(1498-1500)GCT>GCA		WNK lysine deficient protein kinase 3 isoform 2							79.0	73.0	75.0					X																	54321179		2203	4300	6503	SO:0001819	synonymous_variant	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54321179A>T	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.1500T>A	X.37:g.54321179A>T						WNK3_uc004dtc.1_Silent_p.A500A	p.A500A	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN			8	1939	-			500					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Silent	SNP	ENST00000375159.2	37	c.1500T>A	CCDS14357.1																																																																																				PASS	0.478	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		25	108	25	108	---	---	---	---
GNL3L	54552	broad.mit.edu	37	X	54569759	54569759	+	Silent	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chrX:54569759G>T	ENST00000336470.4	+	7	649	c.510G>T	c.(508-510)ctG>ctT	p.L170L	GNL3L_ENST00000360845.2_Silent_p.L170L|GNL3L_ENST00000489691.1_3'UTR	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	170	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.L170L(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						AGCTGGTCCTGGTCTTGAACA	0.547																																						uc004dth.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(508-510)CTG>CTT		guanine nucleotide binding protein-like 3							83.0	65.0	71.0					X																	54569759		2203	4300	6503	SO:0001819	synonymous_variant	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54569759G>T	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.510G>T	X.37:g.54569759G>T						GNL3L_uc004dti.2_RNA	p.L170L	NM_019067	NP_061940	Q9NVN8	GNL3L_HUMAN			7	649	+			170						Silent	SNP	ENST00000336470.4	37	c.510G>T	CCDS14360.1																																																																																				PASS	0.547	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		12	45	12	45	---	---	---	---
ITIH6	347365	broad.mit.edu	37	X	54784427	54784427	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chrX:54784427G>T	ENST00000218436.6	-	8	2109	c.2080C>A	c.(2080-2082)Cct>Act	p.P694T		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	694					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P694T(1)									AGGGTATGAGGGCTCTCTCCC	0.488																																						uc004dtj.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(2080-2082)CCT>ACT		inter-alpha (globulin) inhibitor H5-like							152.0	127.0	135.0					X																	54784427		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54784427G>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2080C>A	X.37:g.54784427G>T	ENSP00000218436:p.Pro694Thr						p.P694T	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			8	2110	-			694					A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.2080C>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	0.088	-1.172650	0.01646	.	.	ENSG00000102313	ENST00000218436	T	0.02258	4.37	3.95	2.88	0.33553	.	19.118200	0.02496	U	0.089997	T	0.02267	0.0070	N	0.19112	0.55	0.09310	N	1	B	0.13594	0.008	B	0.12837	0.008	T	0.48514	-0.9029	10	0.18710	T	0.47	.	6.8366	0.23939	0.1762:0.0:0.8238:0.0	.	694	Q6UXX5	ITH5L_HUMAN	T	694	ENSP00000218436:P694T	ENSP00000218436:P694T	P	-	1	0	ITIH5L	54801152	0.201000	0.23410	0.001000	0.08648	0.003000	0.03518	1.468000	0.35332	0.328000	0.23435	0.597000	0.82753	CCT		PASS	0.488	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		27	230	27	230	---	---	---	---
DLG3	1741	broad.mit.edu	37	X	69665408	69665408	+	Splice_Site	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chrX:69665408G>T	ENST00000374360.3	+	1	590	c.357G>T	c.(355-357)caG>caT	p.Q119H	DLG3_ENST00000194900.4_Splice_Site_p.Q119H	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	119					axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)	p.Q119H(1)		endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GGTATGAGCAGGTATGGACCA	0.672																																						uc004dyi.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)	2						c.(355-357)CAG>CAT		synapse-associated protein 102 isoform a							5.0	6.0	5.0					X																	69665408		2105	4101	6206	SO:0001630	splice_region_variant	1741				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	g.chrX:69665408G>T	U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.357+1G>T	X.37:g.69665408G>T							p.Q119H	NM_021120	NP_066943	Q92796	DLG3_HUMAN			1	685	+	Renal(35;0.156)		119					B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	ENST00000374360.3	37	c.357G>T	CCDS14403.1	.	.	.	.	.	.	.	.	.	.	g	17.08	3.297873	0.60086	.	.	ENSG00000082458	ENST00000194900;ENST00000374360	T;T	0.57436	0.4;0.4	3.69	3.69	0.42338	Membrane-associated guanylate kinase (MAGUK), PEST domain, N-terminal (1);PDZ/DHR/GLGF (1);	0.000000	0.64402	U	0.000001	T	0.44808	0.1311	N	0.08118	0	0.80722	D	1	D	0.56746	0.977	P	0.56474	0.799	T	0.42103	-0.9471	9	.	.	.	.	14.1214	0.65189	0.0:0.0:1.0:0.0	.	119	Q92796	DLG3_HUMAN	H	119	ENSP00000194900:Q119H;ENSP00000363480:Q119H	.	Q	+	3	2	DLG3	69582133	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.045000	0.89436	1.845000	0.53610	0.425000	0.28330	CAG		PASS	0.672	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	NM_021120	Missense_Mutation	6	7	6	7	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73043319	73043319	+	lincRNA	SNP	C	C	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chrX:73043319C>T	ENST00000604411.1	+	0	31280				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		CCTCATCTCTCTtatcctcag	0.353																																						uc004ebn.2																			0					0								Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.							7.0	7.0	7.0					X																	73043319		827	1882	2709			9383							g.chrX:73043319C>T			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73043319C>T						XIST_uc004ebm.1_RNA		NR_003255						1		+									RNA	SNP	ENST00000604411.1	37	c.31280C>T																																																																																					PASS	0.353	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		13	12	13	12	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73071841	73071841	+	lincRNA	SNP	C	C	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chrX:73071841C>A	ENST00000429829.1	-	0	747					NR_001564.2				X inactive specific transcript (non-protein coding)																		CACCGATGGGCGATGAAAAAA	0.428																																						uc004ebm.1																			0					0								Homo sapiens cDNA: FLJ21545 fis, clone COL06195.							29.0	29.0	29.0					X																	73071841		876	1989	2865			7503							g.chrX:73071841C>A	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73071841C>A								NR_001564						1		-									RNA	SNP	ENST00000429829.1	37	c.748G>T																																																																																					PASS	0.428	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		17	21	17	21	---	---	---	---
TRMT2B	79979	broad.mit.edu	37	X	100297169	100297169	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chrX:100297169G>A	ENST00000372936.3	-	3	882	c.110C>T	c.(109-111)cCa>cTa	p.P37L	TRMT2B_ENST00000545398.1_Missense_Mutation_p.P37L|TRMT2B_ENST00000372935.1_Missense_Mutation_p.P37L|TRMT2B_ENST00000338687.7_Missense_Mutation_p.P37L|TRMT2B-AS1_ENST00000443801.2_RNA|TRMT2B_ENST00000372939.1_Missense_Mutation_p.P37L|TRMT2B_ENST00000478422.1_Intron|TRMT2B_ENST00000372931.5_Missense_Mutation_p.P37L	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	37						mitochondrion (GO:0005739)	S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697)	p.P37L(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						TGACCATCCTGGTGGATTTCT	0.483																																						uc004egq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(109-111)CCA>CTA		TRM2 tRNA methyltransferase 2 homolog B							102.0	89.0	93.0					X																	100297169		2203	4300	6503	SO:0001583	missense	79979						tRNA (uracil-5-)-methyltransferase activity	g.chrX:100297169G>A	BC020116	CCDS14477.1, CCDS55464.1	Xq22.1	2012-06-12	2012-06-12	2008-09-17	ENSG00000188917	ENSG00000188917			25748	protein-coding gene	gene with protein product			"""chromosome X open reading frame 34"""	CXorf34		14702039	Standard	NM_024917		Approved	FLJ12687	uc004egq.3	Q96GJ1	OTTHUMG00000022017	ENST00000372936.3:c.110C>T	X.37:g.100297169G>A	ENSP00000362027:p.Pro37Leu					TRMT2B_uc004egp.2_RNA|TRMT2B_uc004egr.2_Missense_Mutation_p.P37L|TRMT2B_uc004egs.2_Missense_Mutation_p.P37L|TRMT2B_uc004egt.2_Missense_Mutation_p.P37L|TRMT2B_uc004egu.2_Intron|TRMT2B_uc004egv.2_Missense_Mutation_p.P37L	p.P37L	NM_024917	NP_079193	Q96GJ1	TRM2_HUMAN			2	409	-			37					A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	Missense_Mutation	SNP	ENST00000372936.3	37	c.110C>T	CCDS14477.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822621	0.32237	.	.	ENSG00000188917	ENST00000338687;ENST00000545398;ENST00000372939;ENST00000372935;ENST00000372936;ENST00000372931	T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04	4.55	3.59	0.41128	.	1.083150	0.07122	N	0.844046	T	0.43322	0.1242	L	0.60455	1.87	0.09310	N	1	P;P;P	0.44877	0.835;0.845;0.745	B;B;B	0.42798	0.398;0.298;0.224	T	0.31558	-0.9939	10	0.44086	T	0.13	-0.1161	8.6224	0.33868	0.0:0.2296:0.7704:0.0	.	37;37;37	Q96GJ1-3;F2Z384;Q96GJ1	.;.;TRM2_HUMAN	L	37	ENSP00000340970:P37L;ENSP00000438134:P37L;ENSP00000362030:P37L;ENSP00000362026:P37L;ENSP00000362027:P37L;ENSP00000362022:P37L	ENSP00000340970:P37L	P	-	2	0	TRMT2B	100183825	0.083000	0.21467	0.196000	0.23383	0.152000	0.21847	1.488000	0.35551	2.178000	0.69098	0.513000	0.50165	CCA		PASS	0.483	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057512.1	NM_024917		247	79	247	79	---	---	---	---
RAB40A	142684	broad.mit.edu	37	X	102755638	102755638	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chrX:102755638T>A	ENST00000372633.1	-	1	2165	c.47A>T	c.(46-48)aAg>aTg	p.K16M	LL0XNC01-250H12.3_ENST00000445990.1_RNA|RAB40A_ENST00000304236.1_Missense_Mutation_p.K16M			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	16					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.K16M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						CAGCAGGAACTTGAGCAGGAA	0.677																																						uc004ekk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(46-48)AAG>ATG		RAB40A, member RAS oncogene family							64.0	61.0	62.0					X																	102755638		2203	4300	6503	SO:0001583	missense	142684				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chrX:102755638T>A	AF132748	CCDS35357.1	Xq22.1	2009-08-25			ENSG00000172476	ENSG00000172476		"""RAB, member RAS oncogene"""	18283	protein-coding gene	gene with protein product						11697911	Standard	NM_080879		Approved	RAR2A, Rar-2	uc004ekk.3	Q8WXH6	OTTHUMG00000022100	ENST00000372633.1:c.47A>T	X.37:g.102755638T>A	ENSP00000361716:p.Lys16Met						p.K16M	NM_080879	NP_543155	Q8WXH6	RB40A_HUMAN			3	389	-			16					O00407|Q17RQ5|Q6DK06|Q8TF06	Missense_Mutation	SNP	ENST00000372633.1	37	c.47A>T	CCDS35357.1	.	.	.	.	.	.	.	.	.	.	.	17.76	3.467576	0.63625	.	.	ENSG00000172476	ENST00000372633;ENST00000304236	D;D	0.86230	-2.09;-2.09	1.53	1.53	0.23141	Small GTP-binding protein domain (1);	0.000000	0.48767	U	0.000171	D	0.94984	0.8377	H	0.98629	4.285	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.92792	0.6249	10	0.87932	D	0	.	6.8887	0.24216	0.0:0.0:0.0:1.0	.	16	Q8WXH6	RB40A_HUMAN	M	16	ENSP00000361716:K16M;ENSP00000305648:K16M	ENSP00000305648:K16M	K	-	2	0	RAB40A	102642294	1.000000	0.71417	0.020000	0.16555	0.339000	0.28857	5.041000	0.64196	0.580000	0.29522	0.235000	0.17854	AAG		PASS	0.677	RAB40A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057714.1			161	45	161	45	---	---	---	---
NRK	203447	broad.mit.edu	37	X	105075071	105075071	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chrX:105075071G>T	ENST00000243300.9	+	2	385	c.82G>T	c.(82-84)Gat>Tat	p.D28Y	NRK_ENST00000428173.2_Missense_Mutation_p.D28Y|NRK_ENST00000536164.1_Missense_Mutation_p.D28Y	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	28	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.D28Y(2)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ATTCTCACTAGATAAAACCAT	0.284										HNSCC(51;0.14)																												uc004emd.2																			2	Substitution - Missense(2)		lung(2)	breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(82-84)GAT>TAT		Nik related kinase							138.0	128.0	131.0					X																	105075071		1814	4068	5882	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105075071G>T	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.82G>T	X.37:g.105075071G>T	ENSP00000434830:p.Asp28Tyr	HNSCC(51;0.14)				NRK_uc010npc.1_5'UTR	p.D28Y	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			2	385	+			28			Protein kinase.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.82G>T		.	.	.	.	.	.	.	.	.	.	G	13.67	2.305628	0.40795	.	.	ENSG00000123572	ENST00000243300;ENST00000428173;ENST00000536164	T;T;T	0.49432	1.86;1.86;0.78	4.7	4.7	0.59300	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.37095	N	0.002258	T	0.46249	0.1383	N	0.16066	0.365	0.80722	D	1	D	0.59767	0.986	P	0.59288	0.855	T	0.52749	-0.8534	10	0.72032	D	0.01	.	12.3352	0.55062	0.0:0.0:1.0:0.0	.	28	Q7Z2Y5	NRK_HUMAN	Y	28	ENSP00000434830:D28Y;ENSP00000438378:D28Y;ENSP00000438785:D28Y	ENSP00000434830:D28Y	D	+	1	0	NRK	104961727	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.640000	0.61368	2.049000	0.60858	0.594000	0.82650	GAT		PASS	0.284	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		149	74	149	74	---	---	---	---
CAPN6	827	broad.mit.edu	37	X	110490620	110490620	+	Silent	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chrX:110490620G>A	ENST00000324068.1	-	12	1886	c.1719C>T	c.(1717-1719)acC>acT	p.T573T	CAPN6_ENST00000541758.1_Silent_p.T318T	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	573	C2.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)	p.T573T(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GAATGTCAGTGGTCCTTCTGT	0.428																																						uc004epc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(1717-1719)ACC>ACT		calpain 6							175.0	157.0	163.0					X																	110490620		2203	4300	6503	SO:0001819	synonymous_variant	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110490620G>A	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1719C>T	X.37:g.110490620G>A						CAPN6_uc011msu.1_Silent_p.T318T	p.T573T	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN			12	1887	-			573			C2.		D3DUY7|Q9UEQ1|Q9UJA8	Silent	SNP	ENST00000324068.1	37	c.1719C>T	CCDS14555.1																																																																																				PASS	0.428	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			65	698	65	698	---	---	---	---
AGTR2	186	broad.mit.edu	37	X	115304522	115304522	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chrX:115304522G>T	ENST00000371906.4	+	3	1179	c.989G>T	c.(988-990)cGc>cTc	p.R330L		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	330					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)	p.R330L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	CAGAAGCTCCGCAGTGTGTTT	0.463																																						uc004eqh.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(988-990)CGC>CTC		angiotensin II receptor, type 2							140.0	131.0	134.0					X																	115304522		2203	4300	6503	SO:0001583	missense	186				behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity	g.chrX:115304522G>T	AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"""GPCR / Class A : Angiotensin receptors"""	338	protein-coding gene	gene with protein product		300034	"""angiotensin receptor 2"""			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.989G>T	X.37:g.115304522G>T	ENSP00000360973:p.Arg330Leu						p.R330L	NM_000686	NP_000677	P50052	AGTR2_HUMAN			3	1196	+			330			Cytoplasmic (Potential).		B2R9V1|Q13016|Q6FGY7	Missense_Mutation	SNP	ENST00000371906.4	37	c.989G>T	CCDS14569.1	.	.	.	.	.	.	.	.	.	.	G	3.956	-0.011208	0.07727	.	.	ENSG00000180772	ENST00000371906	T	0.37584	1.19	4.63	4.63	0.57726	.	0.362283	0.27076	N	0.021053	T	0.20210	0.0486	N	0.14661	0.345	0.40608	D	0.981641	B	0.21520	0.057	B	0.17979	0.02	T	0.06588	-1.0818	10	0.07990	T	0.79	-5.5253	13.8304	0.63377	0.0:0.0:1.0:0.0	.	330	P50052	AGTR2_HUMAN	L	330	ENSP00000360973:R330L	ENSP00000360973:R330L	R	+	2	0	AGTR2	115218550	0.791000	0.28800	1.000000	0.80357	0.995000	0.86356	1.185000	0.32065	2.129000	0.65627	0.506000	0.49869	CGC		PASS	0.463	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1	NM_000686		429	167	429	167	---	---	---	---
SLC6A14	11254	broad.mit.edu	37	X	115582714	115582714	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chrX:115582714T>A	ENST00000371900.4	+	8	1126	c.1038T>A	c.(1036-1038)gaT>gaA	p.D346E		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	346					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)	p.D346E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GCTTCTCTGATGCCATTGTGG	0.408																																						uc004eqi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1036-1038)GAT>GAA		solute carrier family 6 (amino acid	L-Proline(DB00172)						183.0	160.0	168.0					X																	115582714		2203	4300	6503	SO:0001583	missense	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115582714T>A	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.1038T>A	X.37:g.115582714T>A	ENSP00000360967:p.Asp346Glu						p.D346E	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN			8	1142	+			346					Q5H942	Missense_Mutation	SNP	ENST00000371900.4	37	c.1038T>A	CCDS14570.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.048916	0.75846	.	.	ENSG00000087916	ENST00000371900	T	0.79454	-1.27	5.44	4.29	0.51040	.	0.000000	0.85682	D	0.000000	D	0.90786	0.7107	H	0.97587	4.035	0.40615	D	0.981712	D	0.89917	1.0	D	0.85130	0.997	D	0.91847	0.5488	10	0.87932	D	0	.	7.8289	0.29332	0.0:0.0987:0.0:0.9013	.	346	Q9UN76	S6A14_HUMAN	E	346	ENSP00000360967:D346E	ENSP00000360967:D346E	D	+	3	2	SLC6A14	115496742	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.398000	0.44486	1.803000	0.52742	0.441000	0.28932	GAT		PASS	0.408	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			332	165	332	165	---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129149114	129149114	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chrX:129149114G>T	ENST00000218147.7	+	4	2563	c.2366G>T	c.(2365-2367)cGc>cTc	p.R789L	BCORL1_ENST00000303743.5_Missense_Mutation_p.R789L|BCORL1_ENST00000540052.1_Missense_Mutation_p.R789L|BCORL1_ENST00000359304.2_Missense_Mutation_p.R789L			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	789					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R789L(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ACTCCAGCCCGCATTGCCCCT	0.572																																						uc004evb.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|lung(1)	7						c.(2365-2367)CGC>CTC		BCL6 co-repressor-like 1							54.0	50.0	51.0					X																	129149114		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129149114G>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2366G>T	X.37:g.129149114G>T	ENSP00000218147:p.Arg789Leu					BCORL1_uc010nrd.1_Missense_Mutation_p.R691L	p.R789L	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			4	2480	+			789					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.2366G>T	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929210	0.52759	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.53640	0.64;1.04;0.61;0.64;1.12	5.06	5.06	0.68205	.	0.000000	0.37261	N	0.002163	T	0.52370	0.1730	N	0.24115	0.695	0.40222	D	0.977742	D;D	0.71674	0.998;0.992	D;P	0.80764	0.994;0.814	T	0.51252	-0.8729	10	0.30854	T	0.27	-12.8624	13.0719	0.59066	0.0823:0.0:0.9177:0.0	.	789;789	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	L	789;789;789;789;389	ENSP00000218147:R789L;ENSP00000307541:R789L;ENSP00000352253:R789L;ENSP00000437775:R789L;ENSP00000399483:R389L	ENSP00000218147:R789L	R	+	2	0	BCORL1	128976795	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	5.491000	0.66887	2.089000	0.63090	0.436000	0.28706	CGC		PASS	0.572	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		68	43	68	43	---	---	---	---
GPC3	2719	broad.mit.edu	37	X	132795841	132795841	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chrX:132795841G>A	ENST00000370818.3	-	6	1775	c.1330C>T	c.(1330-1332)Cag>Tag	p.Q444*	GPC3_ENST00000543339.1_Nonsense_Mutation_p.Q390*|GPC3_ENST00000394299.2_Nonsense_Mutation_p.Q467*	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	444					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)	p.Q444*(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					AGATTGAACTGGTTTTTCATT	0.398			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																													uc004exe.1			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	T|D|Mis|N|F|S	glypican 3			O		Wilms tumour			1	Substitution - Nonsense(1)		lung(1)	lung(2)|prostate(1)|breast(1)|skin(1)	5						c.(1330-1332)CAG>TAG		glypican 3 isoform 2 precursor							124.0	110.0	114.0					X																	132795841		2203	4300	6503	SO:0001587	stop_gained	2719	Simpson-Golabi-Behmel_syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:132795841G>A	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.1330C>T	X.37:g.132795841G>A	ENSP00000359854:p.Gln444*					GPC3_uc004exd.1_Nonsense_Mutation_p.Q316*|GPC3_uc010nrn.1_Nonsense_Mutation_p.Q467*|GPC3_uc011mvh.1_Nonsense_Mutation_p.Q428*|GPC3_uc010nro.1_Nonsense_Mutation_p.Q390*	p.Q444*	NM_004484	NP_004475	P51654	GPC3_HUMAN			6	1520	-	Acute lymphoblastic leukemia(192;0.000127)		444					C9JLE3|G3V1R0|Q2L880|Q2L882	Nonsense_Mutation	SNP	ENST00000370818.3	37	c.1330C>T	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.940398	0.92526	.	.	ENSG00000147257	ENST00000370818;ENST00000394299;ENST00000543339	.	.	.	5.32	5.32	0.75619	.	0.191694	0.38663	N	0.001619	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.5199	0.61561	0.0:0.0:1.0:0.0	.	.	.	.	X	444;467;390	.	ENSP00000359854:Q444X	Q	-	1	0	GPC3	132623507	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.435000	0.66532	2.348000	0.79779	0.594000	0.82650	CAG		PASS	0.398	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		19	150	19	150	---	---	---	---
FAM50A	9130	broad.mit.edu	37	X	153678268	153678268	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chrX:153678268G>A	ENST00000393600.3	+	10	928	c.818G>A	c.(817-819)cGg>cAg	p.R273Q		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	273					spermatogenesis (GO:0007283)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R273Q(1)		breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCAAGGCACGGGGGAAGAGT	0.642											OREG0003609	type=REGULATORY REGION|Gene=FAM50A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc004fll.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(817-819)CGG>CAG		XAP-5 protein							68.0	63.0	65.0					X																	153678268		2203	4300	6503	SO:0001583	missense	9130				spermatogenesis	nucleus		g.chrX:153678268G>A	BC000028	CCDS14751.1	Xq28	2008-02-05			ENSG00000071859	ENSG00000071859			18786	protein-coding gene	gene with protein product	"""DNA segment on chromosome X (unique) 9928 expressed sequence"""	300453				9339379, 9039504	Standard	NM_004699		Approved	DXS9928E, XAP5, HXC-26, 9F	uc004fll.4	Q14320	OTTHUMG00000033292	ENST00000393600.3:c.818G>A	X.37:g.153678268G>A	ENSP00000377225:p.Arg273Gln		OREG0003609	type=REGULATORY REGION|Gene=FAM50A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1757		p.R273Q	NM_004699	NP_004690	Q14320	FA50A_HUMAN			10	916	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		273					A8KAQ4|B2R997|Q5HY37|Q6PJH5	Missense_Mutation	SNP	ENST00000393600.3	37	c.818G>A	CCDS14751.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397869	0.83120	.	.	ENSG00000071859	ENST00000393600;ENST00000158526	.	.	.	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.77391	0.4123	M	0.86805	2.84	0.52501	D	0.99995	D	0.63046	0.992	P	0.56960	0.81	T	0.80214	-0.1475	9	0.38643	T	0.18	-4.4628	15.4127	0.74941	0.0:0.0:1.0:0.0	.	273	Q14320	FA50A_HUMAN	Q	273;233	.	ENSP00000158526:R233Q	R	+	2	0	FAM50A	153331462	1.000000	0.71417	0.303000	0.25071	0.464000	0.32679	9.135000	0.94478	1.965000	0.57142	0.544000	0.68410	CGG		PASS	0.642	FAM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081643.2	NM_004699		18	59	18	59	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179422131	179422131	+	Frame_Shift_Del	DEL	T	T	-			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr2:179422131delT	ENST00000591111.1	-	279	83159	c.82935delA	c.(82933-82935)aaafs	p.K27645fs	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.K20346fs|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.K20221fs|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.K26718fs|TTN_ENST00000589042.1_Frame_Shift_Del_p.K29286fs|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.K20413fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27645	Fibronectin type-III 101. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTGTTGGCTTTTTGCCATA	0.448																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(80152-80154)AAAfs		titin isoform N2-A							204.0	191.0	195.0					2																	179422131		1972	4158	6130	SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179422131delT	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.82935delA	2.37:g.179422131delT	ENSP00000465570:p.Lys27645fs					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Del_p.K20413fs|TTN_uc010zfi.1_Frame_Shift_Del_p.K20346fs|TTN_uc010zfj.1_Frame_Shift_Del_p.K20221fs	p.K26718fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		278	80378	-			27645					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.80154delA																																																																																						0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		131	106	131	106	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179540656	179540656	+	Frame_Shift_Del	DEL	G	G	-			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr2:179540656delG	ENST00000591111.1	-	145	33631	c.33407delC	c.(33406-33408)cctfs	p.P11136fs	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.P10209fs|TTN_ENST00000589042.1_Frame_Shift_Del_p.P11482fs|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11136	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			ACCTTTGGCAGGGGGAGCCTC	0.368																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(30625-30627)CCTfs		titin isoform N2-A							79.0	77.0	78.0					2																	179540656		1835	4095	5930	SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179540656delG	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.33407delC	2.37:g.179540656delG	ENSP00000465570:p.Pro11136fs					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Frame_Shift_Del_p.P6870fs|TTN_uc010fre.1_Intron|TTN_uc002una.1_RNA|TTN_uc010frf.1_Intron	p.P10209fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		144	30850	-			11136					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.30626delC																																																																																						0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	11	7	11	---	---	---	---
DENND2A	27147	broad.mit.edu	37	7	140301842	140301842	+	Frame_Shift_Del	DEL	C	C	-	rs201559363		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr7:140301842delC	ENST00000275884.6	-	2	773	c.356delG	c.(355-357)ggafs	p.G119fs	DENND2A_ENST00000537639.1_Frame_Shift_Del_p.G119fs|DENND2A_ENST00000492720.1_Frame_Shift_Del_p.G119fs|DENND2A_ENST00000496613.1_Frame_Shift_Del_p.G119fs			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	119					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TGGGTCCTGTCCCCCGACGTT	0.577																																						uc010lnj.2																			0				ovary(3)|breast(1)	4						c.(355-357)GGAfs		DENN/MADD domain containing 2A							168.0	172.0	171.0					7																	140301842		2059	4193	6252	SO:0001589	frameshift_variant	27147							g.chr7:140301842delC	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.356delG	7.37:g.140301842delC	ENSP00000275884:p.Gly119fs					DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Frame_Shift_Del_p.G119fs|DENND2A_uc003vvw.2_Frame_Shift_Del_p.G119fs|DENND2A_uc003vvx.2_Frame_Shift_Del_p.G119fs	p.G119fs	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN			1	501	-	Melanoma(164;0.00956)		119					C9JUI3|Q1RMD5|Q86XY0	Frame_Shift_Del	DEL	ENST00000275884.6	37	c.356delG	CCDS43659.1																																																																																					0.577	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		314	135	314	135	---	---	---	---
MS4A14	84689	broad.mit.edu	37	11	60184378	60184378	+	Frame_Shift_Del	DEL	C	C	-	rs145801550		TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr11:60184378delC	ENST00000300187.6	+	5	2214	c.1937delC	c.(1936-1938)tccfs	p.S646fs	MS4A14_ENST00000531783.1_Frame_Shift_Del_p.S679fs|MS4A14_ENST00000395005.2_Frame_Shift_Del_p.S629fs|MS4A14_ENST00000531787.1_Frame_Shift_Del_p.S534fs	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	646	Gln-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GATTCAGAATCCCAAATACAG	0.463																																						uc001npj.2																			0				breast(1)	1						c.(1936-1938)TCCfs		membrane-spanning 4-domains, subfamily A, member							86.0	87.0	87.0					11																	60184378		2203	4300	6503	SO:0001589	frameshift_variant	84689					integral to membrane	receptor activity	g.chr11:60184378delC	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1937delC	11.37:g.60184378delC	ENSP00000300187:p.Ser646fs					MS4A14_uc001npi.2_Frame_Shift_Del_p.S534fs|MS4A14_uc001npn.2_Frame_Shift_Del_p.S384fs|MS4A14_uc001npk.2_Frame_Shift_Del_p.S629fs|MS4A14_uc001npl.2_Frame_Shift_Del_p.S384fs|MS4A14_uc001npm.2_Frame_Shift_Del_p.S384fs	p.S646fs	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			5	2502	+			646			Gln-rich.		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Frame_Shift_Del	DEL	ENST00000300187.6	37	c.1937delC	CCDS31569.1																																																																																					0.463	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			120	62	120	62	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49444705	49444706	+	Frame_Shift_Ins	INS	-	-	A			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr12:49444705_49444706insA	ENST00000301067.7	-	10	2759_2760	c.2760_2761insT	c.(2758-2763)tctgggfs	p.G921fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	921	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GATGGCTCCCCAGATGGGGACA	0.559																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(2758-2763)TCTGGGfs		myeloid/lymphoid or mixed-lineage leukemia 2																																				SO:0001589	frameshift_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49444705_49444706insA	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2761dupT	12.37:g.49444706_49444706dupA	ENSP00000301067:p.Gly921fs	HNSCC(34;0.089)					p.S920fs	NM_003482	NP_003473	O14686	MLL2_HUMAN			10	2760_2761	-			920_921	Missing (in Ref. 1; AAC51734).		Pro-rich.		O14687	Frame_Shift_Ins	INS	ENST00000301067.7	37	c.2760_2761insT	CCDS44873.1																																																																																					0.559	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			115	67	115	67	---	---	---	---
FAM117A	81558	broad.mit.edu	37	17	47809948	47809948	+	Frame_Shift_Del	DEL	C	C	-			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr17:47809948delC	ENST00000240364.2	-	2	410	c.331delG	c.(331-333)gccfs	p.A111fs	FAM117A_ENST00000514018.1_5'UTR|FAM117A_ENST00000513602.1_5'UTR	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	111										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						CAGGTGAAGGCCCCATCAGCA	0.592																																						uc002ipk.2																			0				ovary(1)	1						c.(331-333)GCCfs		family with sequence similarity 117, member A							104.0	85.0	91.0					17																	47809948		2203	4300	6503	SO:0001589	frameshift_variant	81558							g.chr17:47809948delC	BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"""C/EBP induced protein"""					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.331delG	17.37:g.47809948delC	ENSP00000240364:p.Ala111fs					FAM117A_uc010wlz.1_5'UTR	p.A111fs	NM_030802	NP_110429	Q9C073	F117A_HUMAN			2	400	-			111					B7Z7Q3	Frame_Shift_Del	DEL	ENST00000240364.2	37	c.331delG	CCDS11553.1																																																																																					0.592	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365736.1	NM_030802		27	37	27	37	---	---	---	---
POTEC	388468	broad.mit.edu	37	18	14537863	14537864	+	Frame_Shift_Ins	INS	-	-	T			TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr18:14537863_14537864insT	ENST00000358970.5	-	3	745_746	c.746_747insA	c.(745-747)aatfs	p.N249fs	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	249										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						ATTTATCTTCATTGTGGACAGC	0.356																																						uc010dln.2																			0				skin(3)	3						c.(745-747)AATfs		ANKRD26-like family B, member 2																																				SO:0001589	frameshift_variant	388468							g.chr18:14537863_14537864insT	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.747dupA	18.37:g.14537865_14537865dupT	ENSP00000351856:p.Asn249fs					POTEC_uc010xaj.1_RNA	p.N249fs	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			3	1200_1201	-			249			ANK 4.			Frame_Shift_Ins	INS	ENST00000358970.5	37	c.746_747insA	CCDS45835.1																																																																																					0.356	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		128	62	128	62	---	---	---	---
ABCA7	10347	broad.mit.edu	37	19	1047508	1047514	+	Frame_Shift_Del	DEL	GGAGCAG	GGAGCAG	-	rs547447016	byFrequency	TCGA-66-2763-01A-01D-1522-08	TCGA-66-2763-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d6493c56-5322-4961-a693-8e8a62b0f7f1	242e9501-9e40-45bb-8658-6c871557cc4b	g.chr19:1047508_1047514delGGAGCAG	ENST00000263094.6	+	16	2355_2361	c.2124_2130delGGAGCAG	c.(2122-2130)gaggagcagfs	p.EEQ708fs	ABCA7_ENST00000433129.1_Frame_Shift_Del_p.EEQ708fs|ABCA7_ENST00000435683.2_Frame_Shift_Del_p.EEQ570fs|ABCA7_ENST00000533574.1_3'UTR	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	708					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		CTCTGCTGGAGGAGCAGGGCGAGGGCG	0.715														3	0.000599042	0.0	0.0014	5008	,	,		12199	0.0		0.002	False		,,,				2504	0.0					uc002lqw.3																			0				pancreas(7)|ovary(1)|central_nervous_system(1)	9						c.(2122-2130)GAGGAGCAGfs		ATP-binding cassette, sub-family A, member 7				1,4201		0,1,2100						4.7	1.0			14	34,8152		8,18,4067	no	frameshift	ABCA7	NM_019112.3		8,19,6167	A1A1,A1R,RR		0.4153,0.0238,0.2825				35,12353				SO:0001589	frameshift_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1047508_1047514delGGAGCAG	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.2124_2130delGGAGCAG	19.37:g.1047508_1047514delGGAGCAG	ENSP00000263094:p.Glu708fs					ABCA7_uc010dsb.1_Frame_Shift_Del_p.E570fs	p.E708fs	NM_019112	NP_061985	Q8IZY2	ABCA7_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)	16	2355_2361	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	708_710					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Frame_Shift_Del	DEL	ENST00000263094.6	37	c.2124_2130delGGAGCAG	CCDS12055.1																																																																																					0.715	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		6	6	6	6	---	---	---	---
