#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
SLC2A7	155184	broad.mit.edu	37	1	9083027	9083027	+	Silent	SNP	G	G	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr1:9083027G>A	ENST00000400906.1	-	3	260	c.261C>T	c.(259-261)ggC>ggT	p.G87G		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	87					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.G87G(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CCAACAGGCCGCCCAGAGGAA	0.517																																						uc009vmo.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(259-261)GGC>GGT		intestinal facilitative glucose transporter 7							156.0	146.0	149.0					1																	9083027		2203	4300	6503	SO:0001819	synonymous_variant	155184					integral to membrane|plasma membrane	sugar transmembrane transporter activity	g.chr1:9083027G>A	AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"""Solute carriers"""	13445	protein-coding gene	gene with protein product	"""intestinal facilitative glucose transporter 7"""	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.261C>T	1.37:g.9083027G>A							p.G87G	NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	3	261	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	87			Helical; (Potential).		A2A333	Silent	SNP	ENST00000400906.1	37	c.261C>T	CCDS98.2																																																																																				PASS	0.517	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127768.3	NM_207420		35	260	35	260	---	---	---	---
FBXO2	26232	broad.mit.edu	37	1	11710680	11710680	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr1:11710680C>A	ENST00000354287.4	-	2	575	c.234G>T	c.(232-234)tgG>tgT	p.W78C	FBXO2_ENST00000475961.1_5'Flank	NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN	F-box protein 2	78	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cellular protein modification process (GO:0006464)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of protein ubiquitination (GO:0031396)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|SCF ubiquitin ligase complex (GO:0019005)	beta-amyloid binding (GO:0001540)|carbohydrate binding (GO:0030246)|ubiquitin-protein transferase activity (GO:0004842)	p.W78C(1)		kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCTCCTTCCAGCGCAGGC	0.746																																						uc001asj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(232-234)TGG>TGT		F-box only protein 2							8.0	10.0	9.0					1																	11710680		2170	4263	6433	SO:0001583	missense	26232				glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex	sugar binding|ubiquitin-protein ligase activity	g.chr1:11710680C>A	AF174594	CCDS130.1	1p36.21	2010-04-21	2004-06-15		ENSG00000116661	ENSG00000116661		"""F-boxes /  ""other"""""	13581	protein-coding gene	gene with protein product		607112	"""F-box only protein 2"", ""organ of Corti protein 1"""	OCP1		10531035, 10531037	Standard	NM_012168		Approved	FBX2, Nfb42, Fbs1, Fbg1	uc001asj.3	Q9UK22	OTTHUMG00000002072	ENST00000354287.4:c.234G>T	1.37:g.11710680C>A	ENSP00000346240:p.Trp78Cys					FBXO2_uc009vna.2_Missense_Mutation_p.W78C|FBXO2_uc009vnb.1_RNA	p.W78C	NM_012168	NP_036300	Q9UK22	FBX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)	2	576	-	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	78			F-box.		B2R7K7|Q5TGY0|Q6FGJ7|Q8TB29|Q9UKC6	Missense_Mutation	SNP	ENST00000354287.4	37	c.234G>T	CCDS130.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.255425	0.80135	.	.	ENSG00000116661	ENST00000354287;ENST00000452872	T	0.73681	-0.77	5.09	5.09	0.68999	F-box domain, cyclin-like (1);F-box domain, Skp2-like (1);	0.000000	0.64402	D	0.000004	D	0.88833	0.6544	M	0.91090	3.175	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91330	0.5089	10	0.87932	D	0	.	15.6925	0.77466	0.0:1.0:0.0:0.0	.	78;78	A6NNP0;Q9UK22	.;FBX2_HUMAN	C	78	ENSP00000346240:W78C	ENSP00000346240:W78C	W	-	3	0	FBXO2	11633267	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.561000	0.67339	2.366000	0.80165	0.555000	0.69702	TGG		PASS	0.746	FBXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005764.1	NM_012168		3	9	3	9	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27057875	27057875	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr1:27057875A>T	ENST00000324856.7	+	3	1954	c.1583A>T	c.(1582-1584)cAg>cTg	p.Q528L	ARID1A_ENST00000374152.2_Missense_Mutation_p.Q145L|ARID1A_ENST00000457599.2_Missense_Mutation_p.Q528L	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	528					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Q528L(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTCCACATCAGCAGTCCCCG	0.622			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1				Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		1	Substitution - Missense(1)		lung(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(1582-1584)CAG>CTG		AT rich interactive domain 1A isoform a							242.0	237.0	239.0					1																	27057875		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27057875A>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1583A>T	1.37:g.27057875A>T	ENSP00000320485:p.Gln528Leu					ARID1A_uc001bmt.1_Missense_Mutation_p.Q528L|ARID1A_uc001bmu.1_Missense_Mutation_p.Q528L|ARID1A_uc001bmw.1_Missense_Mutation_p.Q145L	p.Q528L	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	3	1956	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	528					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.1583A>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	A	18.70	3.680672	0.68042	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.02656	4.44;4.21;4.25	5.44	5.44	0.79542	.	0.231855	0.38326	N	0.001734	T	0.06872	0.0175	N	0.19112	0.55	0.80722	D	1	D;D;D	0.63046	0.987;0.992;0.987	D;D;D	0.72982	0.953;0.979;0.953	T	0.60073	-0.7334	10	0.19590	T	0.45	-6.1739	15.6547	0.77124	1.0:0.0:0.0:0.0	.	528;528;182	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	L	528;528;145	ENSP00000320485:Q528L;ENSP00000387636:Q528L;ENSP00000363267:Q145L	ENSP00000320485:Q528L	Q	+	2	0	ARID1A	26930462	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.557000	0.73937	2.278000	0.76064	0.533000	0.62120	CAG		PASS	0.622	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		27	189	27	189	---	---	---	---
LCK	3932	broad.mit.edu	37	1	32742069	32742069	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr1:32742069C>G	ENST00000336890.5	+	8	901	c.763C>G	c.(763-765)Cag>Gag	p.Q255E	LCK_ENST00000333070.4_Missense_Mutation_p.Q255E|LCK_ENST00000373564.3_Intron	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	255	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)	p.Q255E(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	GGGGGCTGGACAGTTCGGGGA	0.677			T	TRB@	T-ALL																																	uc001bux.2				Dom	yes		1	1p35-p34.3	3932	T	lymphocyte-specific protein tyrosine kinase			L	TRB@		T-ALL		1	Substitution - Missense(1)		lung(1)	lung(3)|central_nervous_system(2)|ovary(1)	6						c.(763-765)CAG>GAG		lymphocyte-specific protein tyrosine kinase	Dasatinib(DB01254)						50.0	61.0	58.0					1																	32742069		2203	4300	6503	SO:0001583	missense	3932				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	g.chr1:32742069C>G	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.763C>G	1.37:g.32742069C>G	ENSP00000337825:p.Gln255Glu					LCK_uc001buy.2_Missense_Mutation_p.Q255E|LCK_uc001buz.2_Missense_Mutation_p.Q255E|LCK_uc010ohc.1_Missense_Mutation_p.Q299E|LCK_uc001bva.2_Intron	p.Q255E	NM_005356	NP_005347	P06239	LCK_HUMAN			8	901	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	255			Protein kinase.|ATP (By similarity).		D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Missense_Mutation	SNP	ENST00000336890.5	37	c.763C>G	CCDS359.1	.	.	.	.	.	.	.	.	.	.	.	32	5.148940	0.94645	.	.	ENSG00000182866	ENST00000336890;ENST00000333070;ENST00000436824	T;T	0.61742	2.82;0.08	5.58	4.67	0.58626	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000005	T	0.54303	0.1850	N	0.04275	-0.24	0.80722	D	1	D;D;D	0.63880	0.986;0.993;0.986	P;D;P	0.68765	0.893;0.96;0.859	T	0.65631	-0.6121	10	0.62326	D	0.03	.	13.7864	0.63112	0.0:0.9247:0.0:0.0753	.	299;255;255	E7EN21;P06239-3;P06239	.;.;LCK_HUMAN	E	255;255;299	ENSP00000337825:Q255E;ENSP00000328213:Q255E	ENSP00000328213:Q255E	Q	+	1	0	LCK	32514656	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.791000	0.85805	1.524000	0.49035	0.555000	0.69702	CAG		PASS	0.677	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356		7	29	7	29	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39927568	39927568	+	Silent	SNP	C	C	T	rs200883556		TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr1:39927568C>T	ENST00000372915.3	+	92	21321	c.21234C>T	c.(21232-21234)acC>acT	p.T7078T	MACF1_ENST00000289893.4_Silent_p.T5622T|MACF1_ENST00000361689.2_Silent_p.T5120T|MACF1_ENST00000545844.1_Silent_p.T5120T|MACF1_ENST00000567887.1_Silent_p.T7216T|MACF1_ENST00000564288.1_Silent_p.T7179T|MACF1_ENST00000539005.1_Silent_p.T4990T|MACF1_ENST00000317713.7_Silent_p.T5120T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7078	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.T5120T(1)|p.T5622T(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCCCACCACCAAGTTAGAGA	0.383													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17386	0.0		0.0	False		,,,				2504	0.0					uc010oiu.1																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(16864-16866)ACC>ACT		microfilament and actin filament cross-linker							160.0	158.0	158.0					1																	39927568		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39927568C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21234C>T	1.37:g.39927568C>T						MACF1_uc010ois.1_Silent_p.T5120T|MACF1_uc001cde.1_5'UTR|MACF1_uc001cdf.1_5'UTR	p.T5622T	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		58	16997	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	7078			EF-hand 2.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.16866C>T		0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	9.097|9.097	1.003149|1.003149	0.19121|0.19121	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000360115;ENST00000442046|ENST00000372925;ENST00000446276	.|.	.|.	.|.	5.91|5.91	5.0|5.0	0.66597|0.66597	.|.	.|.	.|.	.|.	.|.	T|.	0.50240|.	0.1604|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.50363|.	-0.8837|.	4|.	.|.	.|.	.|.	.|.	4.739|4.739	0.13003|0.13003	0.235:0.5559:0.1351:0.0741|0.235:0.5559:0.1351:0.0741	.|.	.|.	.|.	.|.	L|X	227;21|4124;102	.|.	.|.	P|Q	+|+	2|1	0|0	MACF1|MACF1	39700155|39700155	0.832000|0.832000	0.29368|0.29368	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	0.007000|0.007000	0.13174|0.13174	1.500000|1.500000	0.48636|0.48636	0.655000|0.655000	0.94253|0.94253	CCA|CAA		PASS	0.383	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		34	284	34	284	---	---	---	---
PLK3	1263	broad.mit.edu	37	1	45271199	45271199	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr1:45271199G>T	ENST00000372201.4	+	15	2029	c.1790G>T	c.(1789-1791)gGc>gTc	p.G597V	BTBD19_ENST00000450269.1_5'Flank|BTBD19_ENST00000409335.2_5'Flank|BTBD19_ENST00000453418.1_5'Flank|PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	597	POLO box 2. {ECO:0000255|PROSITE- ProRule:PRU00154}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.G558V(1)		endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					ATTCTCAGTGGCTGGGAGCCC	0.602																																						uc001cmn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1789-1791)GGC>GTC		polo-like kinase 3							209.0	205.0	206.0					1																	45271199		2203	4300	6503	SO:0001583	missense	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45271199G>T	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1790G>T	1.37:g.45271199G>T	ENSP00000361275:p.Gly597Val					PLK3_uc001cmo.2_RNA|BTBD19_uc010old.1_5'Flank|BTBD19_uc010ole.1_5'Flank	p.G597V	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN			15	1890	+	Acute lymphoblastic leukemia(166;0.155)		597			POLO box 2.		Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	ENST00000372201.4	37	c.1790G>T	CCDS515.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164652	0.57476	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.11169	2.8	5.7	5.7	0.88788	POLO box duplicated domain (2);	.	.	.	.	T	0.16041	0.0386	L	0.58810	1.83	0.54753	D	0.99998	P	0.41188	0.741	B	0.42692	0.395	T	0.00514	-1.1695	9	0.42905	T	0.14	-17.844	13.7483	0.62890	0.0:0.0:0.8464:0.1536	.	597	Q9H4B4	PLK3_HUMAN	V	597;572	ENSP00000361275:G597V	ENSP00000361275:G597V	G	+	2	0	PLK3	45043786	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.249000	0.43169	2.682000	0.91365	0.563000	0.77884	GGC		PASS	0.602	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		71	348	71	348	---	---	---	---
TAL1	6886	broad.mit.edu	37	1	47689738	47689738	+	Missense_Mutation	SNP	A	A	G	rs147015002		TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr1:47689738A>G	ENST00000294339.3	-	3	1055	c.479T>C	c.(478-480)aTg>aCg	p.M160T	TAL1_ENST00000371884.2_Missense_Mutation_p.M160T|RP1-18D14.7_ENST00000422216.1_RNA|TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371883.3_Missense_Mutation_p.M162T	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	160					angiogenesis (GO:0001525)|astrocyte fate commitment (GO:0060018)|basophil differentiation (GO:0030221)|cell fate commitment (GO:0045165)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|hemangioblast cell differentiation (GO:0060217)|hematopoietic stem cell differentiation (GO:0060218)|hemopoiesis (GO:0030097)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|platelet formation (GO:0030220)|positive regulation of cell division (GO:0051781)|positive regulation of chromatin assembly or disassembly (GO:0045799)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell proliferation (GO:0042127)|regulation of mast cell differentiation (GO:0060375)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord association neuron differentiation (GO:0021527)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|E-box binding (GO:0070888)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.M160T(1)		haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GGTGGTGAACATAGGGAAGGC	0.567			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic																																	uc001cqx.2				Dom	yes		1	1p32	6886	T	T-cell acute lymphocytic leukemia 1 (SCL)			L	TRD@|SIL		lymphoblastic leukemia/biphasic		1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(478-480)ATG>ACG		T-cell acute lymphocytic leukemia 1							158.0	142.0	147.0					1																	47689738		2203	4300	6503	SO:0001583	missense	6886				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr1:47689738A>G	M29038	CCDS547.1	1p32	2013-05-21	2001-12-04		ENSG00000162367	ENSG00000162367		"""Basic helix-loop-helix proteins"""	11556	protein-coding gene	gene with protein product		187040		TCL5		2740341	Standard	NM_001287347		Approved	SCL, bHLHa17	uc009vyq.2	P17542	OTTHUMG00000007847	ENST00000294339.3:c.479T>C	1.37:g.47689738A>G	ENSP00000294339:p.Met160Thr					TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Missense_Mutation_p.M160T|TAL1_uc001cra.1_RNA|TAL1_uc001cqz.1_RNA	p.M160T	NM_003189	NP_003180	P17542	TAL1_HUMAN			3	1056	-			160					D3DQ24	Missense_Mutation	SNP	ENST00000294339.3	37	c.479T>C	CCDS547.1	.	.	.	.	.	.	.	.	.	.	A	16.88	3.245085	0.59103	.	.	ENSG00000162367	ENST00000371884;ENST00000371883;ENST00000294339	D;D;D	0.97665	-4.48;-4.47;-4.48	4.76	4.76	0.60689	.	0.250141	0.43416	D	0.000569	D	0.94618	0.8265	L	0.43923	1.385	0.51233	D	0.999918	B	0.28900	0.227	B	0.27076	0.076	D	0.93759	0.7065	10	0.72032	D	0.01	.	14.0202	0.64550	1.0:0.0:0.0:0.0	.	160	P17542	TAL1_HUMAN	T	160;162;160	ENSP00000360951:M160T;ENSP00000360950:M162T;ENSP00000294339:M160T	ENSP00000294339:M160T	M	-	2	0	TAL1	47462325	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.482000	0.66833	1.782000	0.52362	0.529000	0.55759	ATG		PASS	0.567	TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021640.1	NM_003189		21	169	21	169	---	---	---	---
ORC1	4998	broad.mit.edu	37	1	52867041	52867041	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr1:52867041G>T	ENST00000371568.3	-	3	434	c.216C>A	c.(214-216)ttC>ttA	p.F72L	ORC1_ENST00000371566.1_Missense_Mutation_p.F72L	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	72	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.F72L(1)		breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CACCATCTTCGAACAACTCAA	0.428																																						uc001ctt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(214-216)TTC>TTA		origin recognition complex, subunit 1							225.0	206.0	212.0					1																	52867041		2203	4300	6503	SO:0001583	missense	4998				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	g.chr1:52867041G>T		CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.216C>A	1.37:g.52867041G>T	ENSP00000360623:p.Phe72Leu					ORC1L_uc010oni.1_Missense_Mutation_p.F72L|ORC1L_uc001ctu.2_Missense_Mutation_p.F72L|ORC1L_uc009vzd.2_Intron	p.F72L	NM_004153	NP_004144	Q13415	ORC1_HUMAN			3	435	-			72			BAH.		D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	ENST00000371568.3	37	c.216C>A	CCDS566.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197758	0.58126	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	D;D	0.86366	-2.11;-2.11	4.38	2.03	0.26663	Bromo adjacent homology (BAH) domain (3);	0.168145	0.53938	D	0.000046	D	0.89774	0.6812	M	0.73962	2.25	0.32403	N	0.55171	D;D	0.64830	0.99;0.994	P;P	0.58130	0.833;0.833	D	0.89706	0.3908	10	0.62326	D	0.03	-16.264	8.5348	0.33357	0.8045:0.0:0.1955:0.0	.	72;72	B7Z8H0;Q13415	.;ORC1_HUMAN	L	72	ENSP00000360623:F72L;ENSP00000360621:F72L	ENSP00000360621:F72L	F	-	3	2	ORC1	52639629	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	2.301000	0.43628	0.731000	0.32448	0.313000	0.20887	TTC		PASS	0.428	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153		22	247	22	247	---	---	---	---
FUBP1	8880	broad.mit.edu	37	1	78432396	78432397	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr1:78432396_78432397CC>AA	ENST00000370768.2	-	7	535_536	c.454_455GG>TT	c.(454-456)GGa>TTa	p.G152L	FUBP1_ENST00000436586.2_Missense_Mutation_p.G173L|FUBP1_ENST00000370767.1_Missense_Mutation_p.G152L	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	152	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)	p.G152*(1)|p.G152V(1)|p.G152L(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTCAGGTGTTCCAGTTAACATA	0.337			"""F, N"""		oligodendroglioma																																	uc001dii.2				Rec	yes		1	1p13.1	8880		far upstream element (FUSE) binding protein 1			O					3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	central_nervous_system(2)|lung(1)	3						c.(454-456)GGA>GTA|c.(454-456)GGA>TGA		far upstream element-binding protein																																				SO:0001583	missense	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78432396C>A|g.chr1:78432397C>A	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.454_455delinsAA	1.37:g.78432396_78432397delinsAA	ENSP00000359804:p.Gly152Leu					FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Missense_Mutation_p.G173V|FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Nonsense_Mutation_p.G173*	p.G152V|p.G152*	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN			7	544|543	-			152			KH 1.		Q12828	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000370768.2	37	c.455G>T|c.454G>T	CCDS683.1																																																																																				PASS	0.337	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		23	99	23	99	---	---	---	---
AGL	178	broad.mit.edu	37	1	100357256	100357256	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr1:100357256A>G	ENST00000294724.4	+	23	3522	c.3044A>G	c.(3043-3045)tAt>tGt	p.Y1015C	AGL_ENST00000361522.4_Missense_Mutation_p.Y998C|AGL_ENST00000370163.3_Missense_Mutation_p.Y1015C|AGL_ENST00000370161.2_Missense_Mutation_p.Y999C|AGL_ENST00000361302.3_Missense_Mutation_p.Y999C|AGL_ENST00000361915.3_Missense_Mutation_p.Y1015C|AGL_ENST00000370165.3_Missense_Mutation_p.Y1015C	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1015					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)	p.Y1015C(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		ATTGGTGCATATACCACTCTT	0.393																																						uc001dsi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3043-3045)TAT>TGT		amylo-1,6-glucosidase,							169.0	156.0	160.0					1																	100357256		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100357256A>G	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.3044A>G	1.37:g.100357256A>G	ENSP00000294724:p.Tyr1015Cys					AGL_uc001dsj.1_Missense_Mutation_p.Y1015C|AGL_uc001dsk.1_Missense_Mutation_p.Y1015C|AGL_uc001dsl.1_Missense_Mutation_p.Y1015C|AGL_uc001dsm.1_Missense_Mutation_p.Y999C|AGL_uc001dsn.1_Missense_Mutation_p.Y998C	p.Y1015C	NM_000642	NP_000633	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	23	3444	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	1015			4-alpha-glucanotransferase.		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.3044A>G	CCDS759.1	.	.	.	.	.	.	.	.	.	.	A	8.904	0.957113	0.18507	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.59	4.44	0.53790	.	0.123049	0.56097	D	0.000022	T	0.77658	0.4163	M	0.76938	2.355	0.80722	D	1	P;P;B	0.36125	0.538;0.538;0.403	P;P;B	0.48304	0.573;0.573;0.234	T	0.79480	-0.1786	10	0.62326	D	0.03	.	11.6205	0.51115	0.8664:0.0:0.0:0.1336	.	998;999;1015	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	C	1015;1015;1015;1015;999;999;998	ENSP00000355106:Y1015C;ENSP00000359184:Y1015C;ENSP00000359182:Y1015C;ENSP00000294724:Y1015C;ENSP00000354971:Y999C;ENSP00000359180:Y999C;ENSP00000354635:Y998C	ENSP00000294724:Y1015C	Y	+	2	0	AGL	100129844	1.000000	0.71417	0.993000	0.49108	0.003000	0.03518	6.970000	0.76099	0.921000	0.36994	-0.507000	0.04495	TAT		PASS	0.393	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		31	221	31	221	---	---	---	---
PTPN22	26191	broad.mit.edu	37	1	114397560	114397560	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr1:114397560C>T	ENST00000359785.5	-	8	787	c.652G>A	c.(652-654)Gat>Aat	p.D218N	PTPN22_ENST00000420377.2_Missense_Mutation_p.D218N|PTPN22_ENST00000534519.1_5'Flank|PTPN22_ENST00000460620.1_Intron|AP4B1-AS1_ENST00000419536.1_RNA|PTPN22_ENST00000525799.1_Intron|PTPN22_ENST00000538253.1_Intron|PTPN22_ENST00000528414.1_Missense_Mutation_p.D218N	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	218	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)	p.D218N(1)|p.D218Y(1)		NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACACTGTCATCCTCTTGGTAA	0.413																																						uc001eds.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	kidney(2)|lung(1)|skin(1)	4						c.(652-654)GAT>AAT		protein tyrosine phosphatase, non-receptor type							180.0	156.0	164.0					1																	114397560		2203	4300	6503	SO:0001583	missense	26191				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:114397560C>T	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.652G>A	1.37:g.114397560C>T	ENSP00000352833:p.Asp218Asn					uc001edv.1_5'Flank|PTPN22_uc009wgq.2_Missense_Mutation_p.D218N|PTPN22_uc010owo.1_Intron|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.D218N|PTPN22_uc009wgs.2_Intron|PTPN22_uc001edu.2_Missense_Mutation_p.D218N	p.D218N	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	782	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)	218			Tyrosine-protein phosphatase.		A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	ENST00000359785.5	37	c.652G>A	CCDS863.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.460983	0.63513	.	.	ENSG00000134242	ENST00000359785;ENST00000528414;ENST00000420377;ENST00000354605	D;T;D	0.83250	-1.7;2.81;-1.7	6.16	3.22	0.36961	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.227351	0.44097	D	0.000497	T	0.37598	0.1009	N	0.11651	0.15	0.29228	N	0.873497	B;P;B;B	0.37955	0.008;0.612;0.065;0.081	B;B;B;B	0.32724	0.023;0.151;0.08;0.083	T	0.47983	-0.9074	10	0.06757	T	0.87	.	8.2501	0.31712	0.0:0.6389:0.2233:0.1378	.	218;218;218;218	E9PMT0;E9PLD8;G5E984;Q9Y2R2	.;.;.;PTN22_HUMAN	N	218	ENSP00000352833:D218N;ENSP00000435176:D218N;ENSP00000388229:D218N	ENSP00000346621:D218N	D	-	1	0	PTPN22	114199083	0.391000	0.25221	0.007000	0.13788	0.986000	0.74619	0.836000	0.27545	0.935000	0.37341	0.650000	0.86243	GAT		PASS	0.413	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967		37	158	37	158	---	---	---	---
HSD3B1	3283	broad.mit.edu	37	1	120050217	120050218	+	Missense_Mutation	DNP	GG	GG	AT	rs141328314	byFrequency	TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr1:120050217_120050218GG>AT	ENST00000369413.3	+	2	263_264	c.118_119GG>AT	c.(118-120)GGa>ATa	p.G40I	HSD3B1_ENST00000528909.1_Missense_Mutation_p.G40I|HSD3B1_ENST00000235547.6_Missense_Mutation_p.G42I			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	40					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)	p.G40V(1)|p.G40I(1)|p.G40R(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	CAAGGCCTTCGGACCAGAATTG	0.505																																						uc001ehv.1																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(118-120)GGA>AGA|c.(118-120)GGA>GTA		3 beta-hydroxysteroid dehydrogenase 1	NADH(DB00157)|Trilostane(DB01108)																																			SO:0001583	missense	3283				androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:120050217G>A|g.chr1:120050218G>T	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	Exception_encountered	1.37:g.120050217_120050218delinsAT	ENSP00000358421:p.Gly40Ile					HSD3B1_uc001ehw.2_Missense_Mutation_p.G42R|HSD3B1_uc001ehw.2_Missense_Mutation_p.G42V	p.G40R|p.G40V	NM_000862	NP_000853	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	2	263|264	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	40					A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	ENST00000369413.3	37	c.118G>A|c.119G>T	CCDS903.1																																																																																				PASS	0.505	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		27	118|119	27	118	---	---	---	---
THBS3	7059	broad.mit.edu	37	1	155171258	155171258	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr1:155171258G>C	ENST00000368378.3	-	11	1299	c.1279C>G	c.(1279-1281)Cac>Gac	p.H427D	RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000541576.1_5'UTR|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.H307D|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000486260.1_5'UTR	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	427	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.H427D(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCATGGATGTGGCAGGGGCTG	0.622																																						uc001fix.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)	5						c.(1279-1281)CAC>GAC		thrombospondin 3 precursor							68.0	74.0	72.0					1																	155171258		2203	4300	6503	SO:0001583	missense	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155171258G>C	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.1279C>G	1.37:g.155171258G>C	ENSP00000357362:p.His427Asp					RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Missense_Mutation_p.H418D|THBS3_uc001fiz.2_Missense_Mutation_p.H427D|THBS3_uc001fiy.2_5'UTR|THBS3_uc010pfu.1_Missense_Mutation_p.H307D|THBS3_uc010pfv.1_RNA|THBS3_uc001fja.2_RNA	p.H427D	NM_007112	NP_009043	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		11	1302	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		427			EGF-like 4.		B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	c.1279C>G	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464173	0.26335	.	.	ENSG00000169231	ENST00000368378;ENST00000457183;ENST00000428962	T;D;T	0.81739	-1.48;-1.53;-1.1	4.71	4.71	0.59529	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.057175	0.64402	D	0.000002	T	0.54822	0.1882	L	0.28694	0.88	0.37320	D	0.909526	B;B;B;B	0.09022	0.002;0.002;0.002;0.002	B;B;B;B	0.30105	0.111;0.111;0.076;0.111	T	0.47235	-0.9133	10	0.06236	T	0.91	-24.6501	13.3465	0.60575	0.0:0.0:1.0:0.0	.	307;427;427;427	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	D	427;307;277	ENSP00000357362:H427D;ENSP00000392207:H307D;ENSP00000404040:H277D	ENSP00000357362:H427D	H	-	1	0	THBS3	153437882	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	2.072000	0.41510	2.618000	0.88619	0.591000	0.81541	CAC		PASS	0.622	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		17	115	17	115	---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156907135	156907135	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr1:156907135C>A	ENST00000361409.2	-	38	4968	c.4226G>T	c.(4225-4227)cGc>cTc	p.R1409L	MIR765_ENST00000390226.1_RNA|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.R1449L|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.R825L	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1409					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1449L(1)|p.R1449H(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCGGCTGGGGCGTCTTGGATC	0.622																																						uc001fqo.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9						c.(4225-4227)CGC>CTC		Rho guanine nucleotide exchange factor (GEF) 11							56.0	54.0	54.0					1																	156907135		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156907135C>A	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.4226G>T	1.37:g.156907135C>A	ENSP00000354644:p.Arg1409Leu					ARHGEF11_uc010phu.1_Missense_Mutation_p.R825L|ARHGEF11_uc001fqn.2_Missense_Mutation_p.R1449L|MIR765_hsa-mir-765|MI0005116_5'Flank	p.R1409L	NM_014784	NP_055599	O15085	ARHGB_HUMAN			38	5266	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		1409					D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.4226G>T	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	C	0.025	-1.381788	0.01204	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.63744	-0.06;-0.06;0.04	5.16	-3.06	0.05379	.	0.939651	0.08796	N	0.892534	T	0.12860	0.0312	N	0.12182	0.205	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.16778	-1.0391	10	0.11182	T	0.66	-0.0161	4.6579	0.12628	0.2372:0.311:0.0:0.4518	.	825;1409;1449	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	L	1449;1409;825	ENSP00000357177:R1449L;ENSP00000354644:R1409L;ENSP00000313470:R825L	ENSP00000313470:R825L	R	-	2	0	ARHGEF11	155173759	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.682000	0.05185	-1.019000	0.03358	-0.258000	0.10820	CGC		PASS	0.622	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		6	64	6	64	---	---	---	---
CRP	1401	broad.mit.edu	37	1	159683523	159683524	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr1:159683523_159683524TC>AA	ENST00000255030.5	-	2	569_570	c.466_467GA>TT	c.(466-468)GAg>TTg	p.E156L	CRP_ENST00000368110.1_Intron|CRP_ENST00000473196.1_5'UTR|CRP_ENST00000368111.1_Intron|CRP_ENST00000437342.1_5'UTR|CRP_ENST00000368112.1_Intron|CRP_ENST00000343919.2_Intron	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	156	Pentaxin.				acute-phase response (GO:0006953)|aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|complement activation, classical pathway (GO:0006958)|defense response to Gram-positive bacterium (GO:0050830)|inflammatory response (GO:0006954)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|opsonization (GO:0008228)|positive regulation of dendrite development (GO:1900006)|protein polymerization (GO:0051258)|regulation of interleukin-8 secretion (GO:2000482)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lead ion (GO:0010288)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)	calcium ion binding (GO:0005509)|cholesterol binding (GO:0015485)|choline binding (GO:0033265)|complement component C1q binding (GO:0001849)|low-density lipoprotein particle binding (GO:0030169)	p.E156*(1)|p.E156L(1)|p.E156V(1)		breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				inhaled insulin(DB05278)	GGAATCCTGCTCCTGCCCCAAG	0.53																																						uc001ftw.2																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	ovary(1)	1						c.(466-468)GAG>GTG|c.(466-468)GAG>TAG		C-reactive protein, pentraxin-related precursor	Atorvastatin(DB01076)|Bezafibrate(DB01393)																																			SO:0001583	missense	1401				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding	g.chr1:159683523T>A|g.chr1:159683524C>A	M11725	CCDS30911.1	1q23.2	2013-05-13			ENSG00000132693	ENSG00000132693			2367	protein-coding gene	gene with protein product	"""pentraxin 1"""	123260				3840479, 6857266	Standard	NM_000567		Approved	PTX1	uc001ftw.3	P02741	OTTHUMG00000035344	ENST00000255030.5:c.466_467delinsAA	1.37:g.159683523_159683524delinsAA	ENSP00000255030:p.Glu156Leu					CRP_uc001ftx.1_Intron|CRP_uc001fty.1_RNA	p.E156V|p.E156*	NM_000567	NP_000558	P02741	CRP_HUMAN			2	571|570	-	all_hematologic(112;0.0429)		156			Pentaxin.	Calcium 1.|Calcium 2.	A8K078|D3DVD9|D3DVE0|Q08AK3|Q8WW75	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000255030.5	37	c.467A>T|c.466G>T	CCDS30911.1																																																																																				PASS	0.530	CRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085553.1	NM_000567		53	401|407	53	401	---	---	---	---
ATP1A4	480	broad.mit.edu	37	1	160128811	160128811	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr1:160128811G>A	ENST00000368081.4	+	5	1016	c.545G>A	c.(544-546)gGa>gAa	p.G182E		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	182					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.G182E(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTAATTCGAGGAGGAGAGAAG	0.468																																						uc001fve.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(544-546)GGA>GAA		Na+/K+ -ATPase alpha 4 subunit isoform 1							105.0	93.0	97.0					1																	160128811		2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160128811G>A	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.545G>A	1.37:g.160128811G>A	ENSP00000357060:p.Gly182Glu					ATP1A4_uc001fvf.3_RNA	p.G182E	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		5	1024	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		182			Cytoplasmic (Potential).		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.545G>A	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.487813	0.01018	.	.	ENSG00000132681	ENST00000368081	D	0.88201	-2.35	4.86	-7.68	0.01268	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.855653	0.10512	N	0.666049	T	0.45296	0.1335	N	0.03154	-0.405	0.80722	D	1	B	0.02656	0.0	B	0.11329	0.006	T	0.07462	-1.0771	10	0.02654	T	1	.	10.3052	0.43676	0.662:0.1015:0.2365:0.0	.	182	Q13733	AT1A4_HUMAN	E	182	ENSP00000357060:G182E	ENSP00000357060:G182E	G	+	2	0	ATP1A4	158395435	0.017000	0.18338	0.005000	0.12908	0.106000	0.19336	0.445000	0.21677	-1.541000	0.01727	-1.149000	0.01842	GGA		PASS	0.468	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		7	78	7	78	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190067601	190067601	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr1:190067601G>T	ENST00000367462.3	-	8	2079	c.1848C>A	c.(1846-1848)aaC>aaA	p.N616K	BRINP3_ENST00000534846.1_Missense_Mutation_p.N514K	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	616					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.N616K(1)									TCTTCCATTTGTTCCCCAGAG	0.448																																						uc001gse.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1846-1848)AAC>AAA		family with sequence similarity 5, member C							244.0	257.0	253.0					1																	190067601		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190067601G>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1848C>A	1.37:g.190067601G>T	ENSP00000356432:p.Asn616Lys					FAM5C_uc010pot.1_Missense_Mutation_p.N514K	p.N616K	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	2080	-	Prostate(682;0.198)		616					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1848C>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990449	0.54041	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.19394	2.41;2.15	5.61	4.7	0.59300	.	0.048032	0.85682	D	0.000000	T	0.25791	0.0628	M	0.70275	2.135	0.52501	D	0.99995	P;P	0.46784	0.884;0.462	B;B	0.42916	0.402;0.063	T	0.05037	-1.0910	10	0.87932	D	0	.	8.6036	0.33760	0.1727:0.0:0.8273:0.0	.	514;616	B7Z260;Q76B58	.;FAM5C_HUMAN	K	616;514	ENSP00000356432:N616K;ENSP00000438022:N514K	ENSP00000356432:N616K	N	-	3	2	FAM5C	188334224	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.957000	0.87870	1.381000	0.46364	0.585000	0.79938	AAC		PASS	0.448	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		36	429	36	429	---	---	---	---
IPO9	55705	broad.mit.edu	37	1	201844012	201844012	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr1:201844012G>T	ENST00000361565.4	+	22	2955	c.2886G>T	c.(2884-2886)gaG>gaT	p.E962D		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	962					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)	p.E962D(1)		cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						aggaggaggaggaTGGTTTAG	0.433																																						uc001gwz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2884-2886)GAG>GAT		importin 9							141.0	136.0	138.0					1																	201844012		2203	4300	6503	SO:0001583	missense	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201844012G>T	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2886G>T	1.37:g.201844012G>T	ENSP00000354742:p.Glu962Asp						p.E962D	NM_018085	NP_060555	Q96P70	IPO9_HUMAN			22	2936	+			962					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	c.2886G>T	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	G	8.157	0.788608	0.16258	.	.	ENSG00000198700	ENST00000361565;ENST00000456707	.	.	.	5.66	2.27	0.28462	Armadillo-type fold (1);	0.139381	0.64402	D	0.000004	T	0.12008	0.0292	N	0.00621	-1.32	0.40725	D	0.982698	B	0.02656	0.0	B	0.01281	0.0	T	0.08617	-1.0713	9	0.07813	T	0.8	.	3.9265	0.09265	0.2221:0.0:0.4863:0.2917	.	962	Q96P70	IPO9_HUMAN	D	962;37	.	ENSP00000354742:E962D	E	+	3	2	IPO9	200110635	1.000000	0.71417	0.998000	0.56505	0.734000	0.41952	0.547000	0.23299	0.643000	0.30638	-0.254000	0.11334	GAG		PASS	0.433	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		4	137	4	137	---	---	---	---
PIGR	5284	broad.mit.edu	37	1	207103673	207103673	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr1:207103673T>C	ENST00000356495.4	-	11	2468	c.2285A>G	c.(2284-2286)cAg>cGg	p.Q762R	PIGR_ENST00000487208.1_5'Flank	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	762					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)	p.Q762R(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTAGGCTTCCTGGGGGCCGTC	0.637																																						uc001hez.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2284-2286)CAG>CGG		polymeric immunoglobulin receptor precursor							39.0	41.0	40.0					1																	207103673		2202	4300	6502	SO:0001583	missense	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207103673T>C		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.2285A>G	1.37:g.207103673T>C	ENSP00000348888:p.Gln762Arg					PIGR_uc009xbz.2_Missense_Mutation_p.Q762R	p.Q762R	NM_002644	NP_002635	P01833	PIGR_HUMAN			11	2469	-			762			Cytoplasmic (Potential).		Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	37	c.2285A>G	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	T	5.385	0.256268	0.10185	.	.	ENSG00000162896	ENST00000356495	T	0.14516	2.5	5.45	-10.9	0.00192	.	3.486970	0.00802	N	0.001424	T	0.09024	0.0223	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08106	-1.0738	10	0.17369	T	0.5	-22.248	10.731	0.46096	0.0:0.1669:0.4831:0.35	.	762	P01833	PIGR_HUMAN	R	762	ENSP00000348888:Q762R	ENSP00000348888:Q762R	Q	-	2	0	PIGR	205170296	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.600000	0.00892	-2.447000	0.00545	-1.614000	0.00798	CAG		PASS	0.637	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		7	29	7	29	---	---	---	---
HHIPL2	79802	broad.mit.edu	37	1	222715355	222715355	+	Splice_Site	SNP	T	T	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr1:222715355T>A	ENST00000343410.6	-	3	1175	c.1117A>T	c.(1117-1119)Aaa>Taa	p.K373*		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	373					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.K373*(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCAGCTTACTTGTTCTGAGCA	0.527																																						uc001hnh.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1117-1119)AAA>TAA		HHIP-like 2 precursor							60.0	62.0	61.0					1																	222715355		2203	4300	6503	SO:0001630	splice_region_variant	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222715355T>A	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1118+1A>T	1.37:g.222715355T>A							p.K373*	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	3	1175	-			373					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Nonsense_Mutation	SNP	ENST00000343410.6	37	c.1117A>T	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	T	39	7.513622	0.98329	.	.	ENSG00000143512	ENST00000343410	.	.	.	5.63	5.63	0.86233	.	0.048445	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.1675	15.4772	0.75493	0.0:0.0:0.0:1.0	.	.	.	.	X	373	.	ENSP00000342118:K373X	K	-	1	0	HHIPL2	220781978	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.573000	0.82421	2.119000	0.64992	0.482000	0.46254	AAA		PASS	0.527	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746	Nonsense_Mutation	20	98	20	98	---	---	---	---
CLIP4	79745	broad.mit.edu	37	2	29379276	29379276	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr2:29379276G>T	ENST00000320081.5	+	10	1477	c.1222G>T	c.(1222-1224)Ggt>Tgt	p.G408C	CLIP4_ENST00000401617.2_Missense_Mutation_p.G301C|CLIP4_ENST00000401605.1_Missense_Mutation_p.G408C|CLIP4_ENST00000404424.1_Missense_Mutation_p.G408C	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	408								p.G408C(1)		endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					ATTGCCTCCTGGTGAAGAACT	0.313																																						uc002rmv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1222-1224)GGT>TGT		CAP-GLY domain containing linker protein family,							77.0	79.0	78.0					2																	29379276		2203	4299	6502	SO:0001583	missense	79745							g.chr2:29379276G>T	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.1222G>T	2.37:g.29379276G>T	ENSP00000327009:p.Gly408Cys					CLIP4_uc002rmu.2_Missense_Mutation_p.G408C|CLIP4_uc010ezm.1_Missense_Mutation_p.G408C|CLIP4_uc002rmw.2_RNA|CLIP4_uc010ymn.1_Missense_Mutation_p.G390C	p.G408C	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN			10	1461	+	Acute lymphoblastic leukemia(172;0.155)		408					A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	ENST00000320081.5	37	c.1222G>T	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024216	0.35701	.	.	ENSG00000115295	ENST00000401605;ENST00000401617;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000530644	T;T;T;T	0.74632	-0.86;-0.56;-0.53;-0.53	5.52	3.58	0.41010	Cytoskeleton-associated protein, Gly-rich domain (1);	0.417013	0.28109	N	0.016570	T	0.66626	0.2808	L	0.54323	1.7	0.33920	D	0.640791	P;P	0.40660	0.726;0.726	B;B	0.40101	0.319;0.319	T	0.72304	-0.4333	10	0.52906	T	0.07	.	5.9497	0.19239	0.1078:0.0:0.7071:0.1851	.	408;408	A8K6D0;Q8N3C7	.;CLIP4_HUMAN	C	408;301;408;408;408;409;390	ENSP00000384242:G408C;ENSP00000385148:G301C;ENSP00000385594:G408C;ENSP00000327009:G408C	ENSP00000327009:G408C	G	+	1	0	CLIP4	29232780	1.000000	0.71417	0.996000	0.52242	0.071000	0.16799	1.743000	0.38258	0.661000	0.30985	0.555000	0.69702	GGT		PASS	0.313	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		13	89	13	89	---	---	---	---
EPCAM	4072	broad.mit.edu	37	2	47612313	47612313	+	Silent	SNP	C	C	G			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr2:47612313C>G	ENST00000263735.4	+	8	1225	c.867C>G	c.(865-867)tcC>tcG	p.S289S	EPCAM_ENST00000405271.1_Silent_p.S317S	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	289					negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|stem cell differentiation (GO:0048863)|ureteric bud development (GO:0001657)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein complex binding (GO:0032403)	p.0?(2)|p.S289S(1)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						AGGTTATTTCCAGAAAGAAGA	0.338																																						uc002rvx.2																			4	Whole gene deletion(2)|Substitution - coding silent(1)|Unknown(1)		haematopoietic_and_lymphoid_tissue(3)|lung(1)	skin(1)	1						c.(865-867)TCC>TCG		epithelial cell adhesion molecule precursor							172.0	179.0	177.0					2																	47612313		2203	4300	6503	SO:0001819	synonymous_variant	4072	Lynch_syndrome			positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	g.chr2:47612313C>G	M33011	CCDS1833.1	2p21	2014-09-17	2008-12-16	2008-12-16	ENSG00000119888	ENSG00000119888		"""CD molecules"""	11529	protein-coding gene	gene with protein product		185535	"""antigen identified by monoclonal antibody AUA1"", ""tumor-associated calcium signal transducer 1"""	M4S1, MIC18, TACSTD1		8382772, 11306819	Standard	NM_002354		Approved	Ly74, TROP1, GA733-2, EGP34, EGP40, EGP-2, KSA, CD326, Ep-CAM, HEA125, KS1/4, MK-1, MH99, MOC31, 323/A3, 17-1A, TACST-1, CO-17A, ESA	uc002rvx.3	P16422	OTTHUMG00000128853	ENST00000263735.4:c.867C>G	2.37:g.47612313C>G						EPCAM_uc002rvw.2_Silent_p.S317S	p.S289S	NM_002354	NP_002345	P16422	EPCAM_HUMAN			8	1225	+			289			Cytoplasmic (Potential).		P18180|Q6FG26|Q6FG49|Q96C47|Q9UCD0	Silent	SNP	ENST00000263735.4	37	c.867C>G	CCDS1833.1																																																																																				PASS	0.338	EPCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250792.2			51	309	51	309	---	---	---	---
GFPT1	2673	broad.mit.edu	37	2	69569383	69569383	+	Splice_Site	SNP	T	T	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr2:69569383T>A	ENST00000357308.4	-	13	1284		c.e13-2		GFPT1_ENST00000361060.5_Splice_Site	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)	p.?(1)		endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						CCAAATTCACTGAAATAAAAG	0.398																																						uc002sfh.2																			1	Unknown(1)		lung(1)	skin(1)	1						c.e12-1		glucosamine-fructose-6-phosphate							97.0	105.0	102.0					2																	69569383		2203	4300	6503	SO:0001630	splice_region_variant	2673				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr2:69569383T>A		CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"""glutamine-fructose-6-phosphate transaminase 1"""	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.1106-2A>T	2.37:g.69569383T>A							p.V351_splice	NM_002056	NP_002047	Q06210	GFPT1_HUMAN			12	1231	-								Q53QE6|Q9BXF8	Splice_Site	SNP	ENST00000357308.4	37	c.1052_splice	CCDS58713.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.471815	0.84533	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8457	0.63466	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GFPT1	69422887	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.587000	0.82613	2.063000	0.61619	0.377000	0.23210	.		PASS	0.398	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			Intron	25	200	25	200	---	---	---	---
ZNF2	7549	broad.mit.edu	37	2	95847693	95847693	+	Missense_Mutation	SNP	G	G	A	rs372113014		TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr2:95847693G>A	ENST00000340539.5	+	5	1582	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K	ZNF2_ENST00000398107.2_Missense_Mutation_p.E332K|ZNF2_ENST00000453539.2_Missense_Mutation_p.E387K|ZNF2_ENST00000425369.1_Missense_Mutation_p.E294K|ZNF2_ENST00000295210.6_Missense_Mutation_p.E336K	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E374K(1)		endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		TGAATGCAGCGAATGCGGGAA	0.527																																						uc002suf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1117-1119)GAA>AAA		zinc finger protein 2 isoform a		G	LYS/GLU,LYS/GLU	0,4332		0,0,2166	83.0	94.0	90.0		994,1120	4.0	0.2	2		90	1,8575		0,1,4287	no	missense,missense	ZNF2	NM_001017396.1,NM_021088.2	56,56	0,1,6453	AA,AG,GG		0.0117,0.0,0.0077	possibly-damaging,possibly-damaging	332/385,374/427	95847693	1,12907	2166	4288	6454	SO:0001583	missense	7549				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95847693G>A	X60152	CCDS42712.1, CCDS42713.1, CCDS62957.1	2q11.1	2013-09-24	2005-02-07		ENSG00000163067	ENSG00000275111		"""Zinc fingers, C2H2-type"", ""-"""	12991	protein-coding gene	gene with protein product		194500	"""zinc finger protein 2 (A1-5)"""			8183940, 1945843	Standard	NM_021088		Approved	A1-5, ZNF661, Zfp661	uc002suf.3	Q9BSG1	OTTHUMG00000155150	ENST00000340539.5:c.1120G>A	2.37:g.95847693G>A	ENSP00000345392:p.Glu374Lys					ZNF2_uc002sug.2_Missense_Mutation_p.E331K|ZNF2_uc010yue.1_Missense_Mutation_p.E336K|ZNF2_uc010fhs.2_Missense_Mutation_p.E294K	p.E373K	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN		READ - Rectum adenocarcinoma(193;0.0222)	6	1579	+		Ovarian(717;0.00768)	373			C2H2-type 8.		A8MWV7|B4DIR4|Q4ZFY6|Q96G44|Q9UMC5	Missense_Mutation	SNP	ENST00000340539.5	37	c.1117G>A	CCDS42712.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509039	0.44660	0.0	1.17E-4	ENSG00000163067	ENST00000398107;ENST00000340539;ENST00000425369;ENST00000295210;ENST00000453539	T;T;T;T;T	0.16597	2.33;2.33;3.2;2.33;2.33	4.94	4.04	0.47022	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46442	D	0.000300	T	0.28566	0.0707	L	0.41573	1.285	0.09310	N	0.999996	D;D;P	0.76494	0.989;0.999;0.866	P;P;B	0.62014	0.693;0.897;0.233	T	0.04191	-1.0970	10	0.52906	T	0.07	-24.3046	12.9132	0.58190	0.0:0.1645:0.8355:0.0	.	336;332;373	B4DIR4;A8MWV7;Q9BSG1	.;.;ZNF2_HUMAN	K	332;374;294;336;387	ENSP00000381178:E332K;ENSP00000345392:E374K;ENSP00000406017:E294K;ENSP00000295210:E336K;ENSP00000411051:E387K	ENSP00000295210:E336K	E	+	1	0	ZNF2	95211420	0.003000	0.15002	0.233000	0.24025	0.067000	0.16453	1.008000	0.29872	1.280000	0.44463	0.563000	0.77884	GAA		PASS	0.527	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338595.2	NM_021088		15	119	15	119	---	---	---	---
SLC20A1	6574	broad.mit.edu	37	2	113404520	113404520	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr2:113404520G>T	ENST00000272542.3	+	2	654	c.115G>T	c.(115-117)Gtg>Ttg	p.V39L	AC079922.3_ENST00000457336.1_lincRNA	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	39					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)	p.V39L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GGCATTCTCCGTGGGAGCCAA	0.493																																						uc002tib.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(115-117)GTG>TTG		solute carrier family 20 (phosphate							108.0	102.0	104.0					2																	113404520		2203	4300	6503	SO:0001583	missense	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113404520G>T		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.115G>T	2.37:g.113404520G>T	ENSP00000272542:p.Val39Leu					uc010fkq.1_5'Flank	p.V39L	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN			2	561	+			39			Helical; (Potential).		Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	ENST00000272542.3	37	c.115G>T	CCDS2099.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650015	0.87958	.	.	ENSG00000144136	ENST00000272542	D	0.90133	-2.62	5.28	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.91686	0.7372	L	0.41824	1.3	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.90173	0.4237	10	0.34782	T	0.22	-19.027	11.8665	0.52496	0.0858:0.0:0.9141:0.0	.	39	Q8WUM9	S20A1_HUMAN	L	39	ENSP00000272542:V39L	ENSP00000272542:V39L	V	+	1	0	SLC20A1	113120991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.809000	0.99208	1.359000	0.45940	0.591000	0.81541	GTG		PASS	0.493	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		14	120	14	120	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125530467	125530467	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr2:125530467G>T	ENST00000431078.1	+	17	2986	c.2622G>T	c.(2620-2622)tgG>tgT	p.W874C		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	874	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.W874C(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACAACCAATGGCACTATGTCC	0.547																																						uc002tno.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(2620-2622)TGG>TGT		contactin associated protein-like 5 precursor							170.0	161.0	164.0					2																	125530467		1951	4139	6090	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125530467G>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2622G>T	2.37:g.125530467G>T	ENSP00000399013:p.Trp874Cys					CNTNAP5_uc010flu.2_Missense_Mutation_p.W875C	p.W874C	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	17	2986	+			874			Laminin G-like 3.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2622G>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	g	23.4	4.408635	0.83340	.	.	ENSG00000155052	ENST00000431078	D	0.84944	-1.92	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.45361	D	0.000375	D	0.96169	0.8751	H	0.99197	4.465	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97862	1.0281	10	0.87932	D	0	.	18.7016	0.91621	0.0:0.0:1.0:0.0	.	874	Q8WYK1	CNTP5_HUMAN	C	874	ENSP00000399013:W874C	ENSP00000399013:W874C	W	+	3	0	CNTNAP5	125246937	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.697000	0.98697	2.664000	0.90586	0.645000	0.84053	TGG		PASS	0.547	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			29	170	29	170	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141773378	141773378	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr2:141773378T>G	ENST00000389484.3	-	13	3048	c.2077A>C	c.(2077-2079)Aag>Cag	p.K693Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	693					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.K693Q(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)		CACAGCATCTTTGAAGTCACA	0.418										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.(2077-2079)AAG>CAG		low density lipoprotein-related protein 1B							139.0	136.0	137.0					2																	141773378		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141773378T>G	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.2077A>C	2.37:g.141773378T>G	ENSP00000374135:p.Lys693Gln	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.K693Q	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)	13	3049	-		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)	693			Extracellular (Potential).|LDL-receptor class B 7.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2077A>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.705034	0.88924	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95853	-3.83	5.75	5.75	0.90469	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.064498	0.64402	U	0.000011	D	0.95414	0.8511	L	0.53249	1.67	0.39615	D	0.969948	P	0.43231	0.801	P	0.49192	0.602	D	0.95287	0.8391	10	0.39692	T	0.17	.	16.3534	0.83225	0.0:0.0:0.0:1.0	.	693	Q9NZR2	LRP1B_HUMAN	Q	693;631	ENSP00000374135:K693Q	ENSP00000374135:K693Q	K	-	1	0	LRP1B	141489848	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.897000	0.87356	2.311000	0.77944	0.528000	0.53228	AAG		PASS	0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		28	121	28	121	---	---	---	---
TANC1	85461	broad.mit.edu	37	2	159992709	159992709	+	Silent	SNP	C	C	G	rs375201296	byFrequency	TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr2:159992709C>G	ENST00000263635.6	+	5	501	c.264C>G	c.(262-264)ccC>ccG	p.P88P	TANC1_ENST00000454300.1_Silent_p.P88P	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	88					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)		p.P88P(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CTACAGGTCCCGTCAGGAAGC	0.483																																						uc002uag.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(262-264)CCC>CCG		tetratricopeptide repeat, ankyrin repeat and							140.0	144.0	143.0					2																	159992709		1921	4127	6048	SO:0001819	synonymous_variant	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:159992709C>G	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.264C>G	2.37:g.159992709C>G						TANC1_uc010fol.1_Silent_p.P88P|TANC1_uc010zcm.1_Silent_p.P88P|TANC1_uc010fom.1_Silent_p.P88P|TANC1_uc002uah.1_5'UTR	p.P88P	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			5	538	+			88					C9JD88|Q49AI8	Silent	SNP	ENST00000263635.6	37	c.264C>G	CCDS42766.1																																																																																				PASS	0.483	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			33	200	33	200	---	---	---	---
SLC4A10	57282	broad.mit.edu	37	2	162830816	162830816	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr2:162830816G>A	ENST00000446997.1	+	24	3310	c.3217G>A	c.(3217-3219)Ggg>Agg	p.G1073R	SLC4A10_ENST00000272716.5_Missense_Mutation_p.G1043R|SLC4A10_ENST00000415876.2_Missense_Mutation_p.G1043R|SLC4A10_ENST00000375514.5_Missense_Mutation_p.G1054R|SLC4A10_ENST00000421911.1_Intron	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	1073					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.G1073R(1)|p.G1043R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	CCCATTGGAAGGGCACTATAG	0.333																																						uc002ubx.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|pancreas(1)	5						c.(3217-3219)GGG>AGG		solute carrier family 4, sodium bicarbonate							90.0	86.0	87.0					2																	162830816		1857	4094	5951	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162830816G>A		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.3217G>A	2.37:g.162830816G>A	ENSP00000393066:p.Gly1073Arg					SLC4A10_uc002uby.3_Missense_Mutation_p.G1043R|SLC4A10_uc010zcs.1_Missense_Mutation_p.G1054R	p.G1073R	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			24	3401	+			1073			Cytoplasmic (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.3217G>A	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542525	0.45280	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000415711	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.78181	0.4243	M	0.62016	1.91	0.80722	D	1	B;B;B	0.12013	0.005;0.005;0.001	B;B;B	0.20384	0.029;0.029;0.009	T	0.74328	-0.3701	10	0.56958	D	0.05	.	19.4653	0.94935	0.0:0.0:1.0:0.0	.	1054;1043;1073	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	R	1054;1043;1043;1042;1073;1072	ENSP00000364664:G1054R;ENSP00000395797:G1043R;ENSP00000272716:G1043R;ENSP00000393066:G1073R	ENSP00000272716:G1043R	G	+	1	0	SLC4A10	162539062	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	7.397000	0.79903	2.652000	0.90054	0.585000	0.79938	GGG		PASS	0.333	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		4	30	4	30	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168104476	168104476	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr2:168104476A>G	ENST00000409195.1	+	9	6663	c.6574A>G	c.(6574-6576)Aca>Gca	p.T2192A	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T2192A|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T1970A|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2017	Pro-rich.				actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.T2192A(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAGCAAGAAACAAAATATTC	0.408																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(6574-6576)ACA>GCA		xin actin-binding repeat containing 2 isoform 1							36.0	35.0	35.0					2																	168104476		1821	4080	5901	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168104476A>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6574A>G	2.37:g.168104476A>G	ENSP00000386840:p.Thr2192Ala					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.T2017A|XIRP2_uc010fpq.2_Missense_Mutation_p.T1970A|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	p.T2192A	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	6592	+			2017					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.6574A>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	1.115	-0.657064	0.03480	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.19938	2.11;2.11;2.11	5.92	2.0	0.26442	.	1.461070	0.03402	N	0.203509	T	0.10766	0.0263	N	0.11427	0.14	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.26224	-1.0109	10	0.08837	T	0.75	1.2818	5.465	0.16637	0.6459:0.1381:0.2161:0.0	.	2017;2017;1970	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	A	2192;2192;1970	ENSP00000386840:T2192A;ENSP00000295237:T2192A;ENSP00000387255:T1970A	ENSP00000295237:T2192A	T	+	1	0	XIRP2	167812722	0.273000	0.24181	0.685000	0.30070	0.222000	0.24845	0.766000	0.26560	1.074000	0.40909	-0.274000	0.10170	ACA		PASS	0.408	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		22	100	22	100	---	---	---	---
HAT1	8520	broad.mit.edu	37	2	172844237	172844237	+	Nonsense_Mutation	SNP	C	C	G			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr2:172844237C>G	ENST00000264108.4	+	10	1089	c.1053C>G	c.(1051-1053)taC>taG	p.Y351*	HAT1_ENST00000392584.1_Nonsense_Mutation_p.Y266*|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	351					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)	p.Y351*(1)		breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			ACAGAAGCTACAGACTGGATA	0.348																																						uc002uhi.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1051-1053)TAC>TAG		histone acetyltransferase 1							126.0	127.0	126.0					2																	172844237		2203	4300	6503	SO:0001587	stop_gained	8520				chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding	g.chr2:172844237C>G	AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"""	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.1053C>G	2.37:g.172844237C>G	ENSP00000264108:p.Tyr351*					HAT1_uc010fqi.2_Nonsense_Mutation_p.Y186*|HAT1_uc002uhj.2_Nonsense_Mutation_p.Y266*	p.Y351*	NM_003642	NP_003633	O14929	HAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		10	1129	+			351					Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Nonsense_Mutation	SNP	ENST00000264108.4	37	c.1053C>G	CCDS2245.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.409715	0.83340	.	.	ENSG00000128708	ENST00000392584;ENST00000264108	.	.	.	6.08	2.51	0.30379	.	0.109140	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.0275	11.3729	0.49711	0.0:0.4688:0.0:0.5312	.	.	.	.	X	266;351	.	ENSP00000264108:Y351X	Y	+	3	2	HAT1	172552483	0.984000	0.35163	0.935000	0.37517	0.988000	0.76386	0.161000	0.16481	-0.016000	0.14127	-0.254000	0.11334	TAC		PASS	0.348	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1	NM_003642		27	141	27	141	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179431690	179431690	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr2:179431690G>T	ENST00000591111.1	-	276	74470	c.74246C>A	c.(74245-74247)cCa>cAa	p.P24749Q	TTN_ENST00000589042.1_Missense_Mutation_p.P26390Q|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P17517Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P17450Q|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P17325Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P23822Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24749	Fibronectin type-III 80. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P17450Q(1)|p.P23820Q(1)|p.P17517Q(1)|p.P17325Q(1)|p.P23822Q(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)			CAAGCTTTTTGGTGGTCCAGG	0.413																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(71464-71466)CCA>CAA		titin isoform N2-A							107.0	104.0	105.0					2																	179431690		1872	4091	5963	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179431690G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.74246C>A	2.37:g.179431690G>T	ENSP00000465570:p.Pro24749Gln					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P17517Q|TTN_uc010zfi.1_Missense_Mutation_p.P17450Q|TTN_uc010zfj.1_Missense_Mutation_p.P17325Q	p.P23822Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	71689	-			24749					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.71465C>A		.	.	.	.	.	.	.	.	.	.	G	13.84	2.357034	0.41801	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.75	5.75	0.90469	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92280	0.7551	H	0.99726	4.73	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.95401	0.8490	9	0.87932	D	0	.	19.9439	0.97175	0.0:0.0:1.0:0.0	.	17325;17450;17517;24749	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	23822;17325;17517;17450;17323	ENSP00000343764:P23822Q;ENSP00000434586:P17325Q;ENSP00000340554:P17517Q;ENSP00000352154:P17450Q	ENSP00000340554:P17517Q	P	-	2	0	TTN	179139936	1.000000	0.71417	0.987000	0.45799	0.947000	0.59692	9.869000	0.99810	2.706000	0.92434	0.561000	0.74099	CCA		PASS	0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		33	181	33	181	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179590253	179590253	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr2:179590253T>A	ENST00000591111.1	-	69	19951	c.19727A>T	c.(19726-19728)gAa>gTa	p.E6576V	TTN_ENST00000589042.1_Missense_Mutation_p.E6893V|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E5649V|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12177	Ig-like 47.				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.E5649V(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)			TCTAATCACTTCTTCCTTCTC	0.433																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(16945-16947)GAA>GTA		titin isoform N2-A							129.0	116.0	120.0					2																	179590253		1847	4108	5955	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179590253T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19727A>T	2.37:g.179590253T>A	ENSP00000465570:p.Glu6576Val					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E2310V	p.E5649V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		68	17170	-			6576					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.16946A>T		.	.	.	.	.	.	.	.	.	.	T	12.14	1.849804	0.32699	.	.	ENSG00000155657	ENST00000342992	T	0.68765	-0.35	5.23	4.07	0.47477	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78717	0.4327	M	0.91406	3.205	0.80722	D	1	P	0.51933	0.949	P	0.51101	0.659	T	0.82418	-0.0467	9	0.87932	D	0	.	11.3943	0.49832	0.0:0.0713:0.0:0.9287	.	6576	Q8WZ42	TITIN_HUMAN	V	5649	ENSP00000343764:E5649V	ENSP00000343764:E5649V	E	-	2	0	TTN	179298498	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.278000	0.58946	0.939000	0.37446	-0.270000	0.10280	GAA		PASS	0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	94	10	94	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179621110	179621110	+	Intron	SNP	G	G	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr2:179621110G>A	ENST00000591111.1	-	44	10528				TTN_ENST00000589042.1_Missense_Mutation_p.A3698V|TTN_ENST00000342175.6_Missense_Mutation_p.A3527V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Intron|TTN-AS1_ENST00000610005.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			CTCTATCTTTGCACCTTCGTG	0.408																																						uc010zfh.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.(10579-10581)GCA>GTA		titin isoform novex-2							101.0	97.0	98.0					2																	179621110		1896	4110	6006	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179621110G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10303+2600C>T	2.37:g.179621110G>A						TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron	p.A3527V	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		44	10804	-			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	Missense_Mutation	SNP	ENST00000591111.1	37	c.10580C>T		.	.	.	.	.	.	.	.	.	.	G	12.21	1.868123	0.32977	.	.	ENSG00000155657	ENST00000342175	T	0.67698	-0.28	6.04	-0.944	0.10392	.	.	.	.	.	T	0.47544	0.1451	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42932	-0.9422	8	0.87932	D	0	.	0.761	0.01007	0.2988:0.1041:0.2236:0.3734	.	3527	E7ET18	.	V	3527	ENSP00000340554:A3527V	ENSP00000340554:A3527V	A	-	2	0	TTN	179329355	0.000000	0.05858	0.001000	0.08648	0.939000	0.58152	0.334000	0.19787	-0.073000	0.12842	-0.312000	0.09012	GCA		PASS	0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	98	14	98	---	---	---	---
HECW2	57520	broad.mit.edu	37	2	197208380	197208380	+	Splice_Site	SNP	C	C	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr2:197208380C>A	ENST00000260983.3	-	3	583		c.e3+1		HECW2_ENST00000409111.1_Splice_Site	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.?(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TAGTTACTTACGTTCCATGAA	0.363																																						uc002utm.1																			1	Unknown(1)		lung(1)	skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.e3+1		HECT, C2 and WW domain containing E3 ubiquitin							160.0	176.0	171.0					2																	197208380		2203	4300	6503	SO:0001630	splice_region_variant	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197208380C>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.400+1G>T	2.37:g.197208380C>A						HECW2_uc002utl.1_Splice_Site	p.P134_splice	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			3	583	-								B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Splice_Site	SNP	ENST00000260983.3	37	c.400_splice	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.690286	0.88735	.	.	ENSG00000138411	ENST00000260983	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3923	0.94587	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HECW2	196916625	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.520000	0.81821	2.882000	0.98803	0.655000	0.94253	.		PASS	0.363	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760	Intron	16	295	16	295	---	---	---	---
INO80D	54891	broad.mit.edu	37	2	206870222	206870222	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr2:206870222C>A	ENST00000403263.1	-	11	2358	c.1954G>T	c.(1954-1956)Gct>Tct	p.A652S	Vault_ENST00000516676.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	652					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.A547S(1)|p.A652S(1)		NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						AGCTCCTCAGCCTCTTCGGTA	0.507																																						uc002vaz.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1954-1956)GCT>TCT		INO80 complex subunit D							56.0	52.0	53.0					2																	206870222		1945	4148	6093	SO:0001583	missense	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206870222C>A		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.1954G>T	2.37:g.206870222C>A	ENSP00000384198:p.Ala652Ser						p.A652S	NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN			11	2359	-			652					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	c.1954G>T	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337715	0.81911	.	.	ENSG00000114933	ENST00000403263;ENST00000233270	T	0.36878	1.23	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.58481	0.2125	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.49661	-0.8916	10	0.34782	T	0.22	.	20.0505	0.97625	0.0:1.0:0.0:0.0	.	652	Q53TQ3-2	.	S	652	ENSP00000384198:A652S	ENSP00000233270:A652S	A	-	1	0	INO80D	206578467	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.287000	0.78681	2.736000	0.93811	0.579000	0.79373	GCT		PASS	0.507	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		8	83	8	83	---	---	---	---
MRPL44	65080	broad.mit.edu	37	2	224824686	224824686	+	Silent	SNP	C	C	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr2:224824686C>T	ENST00000258383.3	+	2	684	c.615C>T	c.(613-615)agC>agT	p.S205S		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	205	RNase III.				mitochondrial translational elongation (GO:0070125)|RNA processing (GO:0006396)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.S205S(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGTTACAGAGCAGTGGACCTG	0.438																																						uc002vnr.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(613-615)AGC>AGT		mitochondrial ribosomal protein L44 precursor							81.0	78.0	79.0					2																	224824686		2203	4300	6503	SO:0001819	synonymous_variant	65080				RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity	g.chr2:224824686C>T	AK022763	CCDS2459.1	2p24.3-p24.1	2012-09-13			ENSG00000135900	ENSG00000135900		"""Mitochondrial ribosomal proteins / large subunits"""	16650	protein-coding gene	gene with protein product	"""39S ribosomal protein L44, mitochondrial"""	611849					Standard	NM_022915		Approved	FLJ12701, FLJ13990	uc002vnr.4	Q9H9J2	OTTHUMG00000133164	ENST00000258383.3:c.615C>T	2.37:g.224824686C>T							p.S205S	NM_022915	NP_075066	Q9H9J2	RM44_HUMAN		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	684	+		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)	205			RNase III.		Q53S16|Q6IA62|Q9H821	Silent	SNP	ENST00000258383.3	37	c.615C>T	CCDS2459.1																																																																																				PASS	0.438	MRPL44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256866.2	NM_022915		17	126	17	126	---	---	---	---
C3orf20	84077	broad.mit.edu	37	3	14744711	14744711	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr3:14744711G>T	ENST00000253697.3	+	6	1272	c.820G>T	c.(820-822)Gag>Tag	p.E274*	C3orf20_ENST00000435614.1_Nonsense_Mutation_p.E152*|C3orf20_ENST00000412910.1_Nonsense_Mutation_p.E152*	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	274						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.E274*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CAACAGCCTGGAGTTCAGCGA	0.587																																						uc003byy.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(820-822)GAG>TAG		hypothetical protein LOC84077							142.0	143.0	143.0					3																	14744711		2203	4300	6503	SO:0001587	stop_gained	84077					cytoplasm|integral to membrane		g.chr3:14744711G>T	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.820G>T	3.37:g.14744711G>T	ENSP00000253697:p.Glu274*					C3orf20_uc003byz.2_Nonsense_Mutation_p.E152*|C3orf20_uc003bza.2_Nonsense_Mutation_p.E152*|C3orf20_uc003byx.1_Nonsense_Mutation_p.E274*	p.E274*	NM_032137	NP_115513	Q8ND61	CC020_HUMAN			6	1224	+			274					Q7L0U6|Q8NCP2|Q9H0I7	Nonsense_Mutation	SNP	ENST00000253697.3	37	c.820G>T	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	G	37	6.101192	0.97281	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	.	.	.	5.09	0.938	0.19500	.	1.096410	0.07009	N	0.824703	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-15.2642	7.152	0.25616	0.0:0.3087:0.3744:0.3168	.	.	.	.	X	274;152;152	.	ENSP00000253697:E274X	E	+	1	0	C3orf20	14719715	0.168000	0.22989	0.002000	0.10522	0.020000	0.10135	0.597000	0.24059	0.631000	0.30412	0.585000	0.79938	GAG		PASS	0.587	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		35	225	35	225	---	---	---	---
NKIRAS1	28512	broad.mit.edu	37	3	23934649	23934649	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr3:23934649C>G	ENST00000443659.2	-	4	1293	c.516G>C	c.(514-516)caG>caC	p.Q172H	NKIRAS1_ENST00000437230.1_Missense_Mutation_p.Q172H|NKIRAS1_ENST00000425478.2_Missense_Mutation_p.Q172H|NKIRAS1_ENST00000415901.2_Missense_Mutation_p.Q172H|NKIRAS1_ENST00000412028.1_Missense_Mutation_p.Q172H|NKIRAS1_ENST00000421515.2_Missense_Mutation_p.Q172H|NKIRAS1_ENST00000388759.3_Missense_Mutation_p.Q172H|NKIRAS1_ENST00000416026.2_Missense_Mutation_p.Q172H			Q9NYS0	KBRS1_HUMAN	NFKB inhibitor interacting Ras-like 1	172					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.Q172H(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						TTGATTTGCTCTGGGGTTGAG	0.378																																						uc003ccj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(514-516)CAG>CAC		kappa B-ras 1							123.0	115.0	118.0					3																	23934649		2203	4300	6503	SO:0001583	missense	28512				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	g.chr3:23934649C>G	AF229839	CCDS33717.1	3p24.1	2014-05-09	2004-05-20		ENSG00000197885	ENSG00000197885			17899	protein-coding gene	gene with protein product		604496	"""NFKB inhibitor interacting Ras-like protein 1"""			10657303	Standard	NM_020345		Approved	KBRAS1, kappaB-Ras1	uc003ccj.3	Q9NYS0	OTTHUMG00000155605	ENST00000443659.2:c.516G>C	3.37:g.23934649C>G	ENSP00000393785:p.Gln172His					NKIRAS1_uc003cck.2_Missense_Mutation_p.Q172H|NKIRAS1_uc003ccl.2_Missense_Mutation_p.Q172H|NKIRAS1_uc003ccm.2_Missense_Mutation_p.Q172H	p.Q172H	NM_020345	NP_065078	Q9NYS0	KBRS1_HUMAN			5	918	-			172					Q96K18	Missense_Mutation	SNP	ENST00000443659.2	37	c.516G>C	CCDS33717.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281169	0.59758	.	.	ENSG00000197885	ENST00000388759;ENST00000443659;ENST00000421515;ENST00000425478;ENST00000437230;ENST00000412028;ENST00000415901;ENST00000416026	T;T;T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	4.86	1.94	0.25998	.	0.074237	0.56097	D	0.000027	D	0.84795	0.5551	M	0.72118	2.19	0.58432	D	0.999996	D;P	0.76494	0.999;0.599	D;B	0.65987	0.94;0.137	T	0.82341	-0.0505	10	0.52906	T	0.07	-16.232	6.3613	0.21431	0.0:0.6407:0.1335:0.2258	.	172;172	G5E9P3;Q9NYS0	.;KBRS1_HUMAN	H	172	ENSP00000373411:Q172H;ENSP00000393785:Q172H;ENSP00000392307:Q172H;ENSP00000400385:Q172H;ENSP00000406543:Q172H;ENSP00000396063:Q172H;ENSP00000415225:Q172H;ENSP00000394214:Q172H	ENSP00000373411:Q172H	Q	-	3	2	NKIRAS1	23909653	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.197000	0.32211	0.646000	0.30693	0.591000	0.81541	CAG		PASS	0.378	NKIRAS1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340876.2	NM_020345		27	141	27	141	---	---	---	---
TREX1	11277	broad.mit.edu	37	3	48508848	48508848	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr3:48508848G>T	ENST00000422277.2	+	1	1620	c.959G>T	c.(958-960)gGa>gTa	p.G320V	TREX1_ENST00000436480.2_Missense_Mutation_p.G265V|TREX1_ENST00000456089.1_Missense_Mutation_p.G126V|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000296443.9_Missense_Mutation_p.G265V|TREX1_ENST00000444177.1_Missense_Mutation_p.G255V|TREX1_ENST00000433541.1_Missense_Mutation_p.G126V	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	320	Interaction with UBQLN1.|Necessary for endoplasmic reticulum localization. {ECO:0000250}.			G -> R (in Ref. 1; CAB50866). {ECO:0000305}.	cell death (GO:0008219)|cellular response to interferon-beta (GO:0035458)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|innate immune response (GO:0045087)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	endoplasmic reticulum membrane (GO:0005789)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|3'-5'-exodeoxyribonuclease activity (GO:0008296)|adenyl deoxyribonucleotide binding (GO:0032558)|double-stranded DNA binding (GO:0003690)|exodeoxyribonuclease III activity (GO:0008853)|metal ion binding (GO:0046872)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein homodimerization activity (GO:0042803)|single-stranded DNA binding (GO:0003697)	p.G320V(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CCCAGCCTTGGAGAGAGCAGG	0.602																																						uc003ctj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(958-960)GGA>GTA	Direct_reversal_of_damage|Editing_and_processing_nucleases	three prime repair exonuclease 1 isoform b							97.0	94.0	95.0					3																	48508848		2203	4300	6503	SO:0001583	missense	11277				cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding	g.chr3:48508848G>T	AF151105	CCDS2769.1, CCDS59451.1	3p21.31	2014-09-17			ENSG00000213689	ENSG00000213689			12269	protein-coding gene	gene with protein product		606609	"""Aicardi-Goutieres syndrome 1"""	AGS1		10391904, 10393201, 16845398	Standard	NM_033629		Approved	DRN3	uc010hka.4	Q9NSU2	OTTHUMG00000156205	ENST00000422277.2:c.959G>T	3.37:g.48508848G>T	ENSP00000390478:p.Gly320Val					TREX1_uc010hjy.2_Missense_Mutation_p.G265V|TREX1_uc003ctk.2_Missense_Mutation_p.G126V|TREX1_uc010hjz.2_Missense_Mutation_p.G265V|TREX1_uc010hka.2_Missense_Mutation_p.G320V	p.G320V	NM_033629	NP_338599	Q9NSU2	TREX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	2	2216	+			320	G -> R (in Ref. 1; CAB50866).				B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Missense_Mutation	SNP	ENST00000422277.2	37	c.959G>T	CCDS43086.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308593	0.40895	.	.	ENSG00000213689	ENST00000296443;ENST00000433541;ENST00000436480;ENST00000422277;ENST00000444177;ENST00000456089	T;T;T;T;T;T	0.54071	1.27;0.59;1.27;1.21;1.27;0.59	5.1	3.32	0.38043	.	.	.	.	.	T	0.49029	0.1533	L	0.51422	1.61	0.09310	N	0.999997	P	0.48016	0.904	P	0.45099	0.469	T	0.38394	-0.9663	9	0.66056	D	0.02	.	7.7127	0.28688	0.1937:0.0:0.8063:0.0	.	320	Q9NSU2	TREX1_HUMAN	V	265;126;265;320;255;126	ENSP00000296443:G265V;ENSP00000412404:G126V;ENSP00000392569:G265V;ENSP00000390478:G320V;ENSP00000415972:G255V;ENSP00000411331:G126V	ENSP00000296443:G265V	G	+	2	0	TREX1	48483852	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.047000	0.14056	0.540000	0.28808	0.561000	0.74099	GGA		PASS	0.602	TREX1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_016381		4	113	4	113	---	---	---	---
GAP43	2596	broad.mit.edu	37	3	115394998	115394998	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr3:115394998G>C	ENST00000305124.6	+	2	535	c.169G>C	c.(169-171)Gat>Cat	p.D57H	GAP43_ENST00000393780.3_Missense_Mutation_p.D93H	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	57	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.D57H(1)|p.D93H(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		AGAGAAGAAGGATGATGTCCA	0.488																																						uc003ebq.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(169-171)GAT>CAT		growth associated protein 43 isoform 2							97.0	95.0	96.0					3																	115394998		2203	4300	6503	SO:0001583	missense	2596				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	g.chr3:115394998G>C		CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.169G>C	3.37:g.115394998G>C	ENSP00000305010:p.Asp57His					GAP43_uc003ebr.2_Missense_Mutation_p.D93H	p.D57H	NM_002045	NP_002036	P17677	NEUM_HUMAN		GBM - Glioblastoma multiforme(114;0.164)	2	555	+			57			IQ.		A8K0Y4	Missense_Mutation	SNP	ENST00000305124.6	37	c.169G>C	CCDS33830.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313328	0.60414	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.32753	1.44;1.44	4.88	4.88	0.63580	.	0.274245	0.41396	D	0.000898	T	0.35335	0.0928	M	0.66939	2.045	0.34946	D	0.750802	P;B	0.38642	0.641;0.412	B;B	0.34722	0.188;0.121	T	0.56153	-0.8026	10	0.66056	D	0.02	-0.9413	18.5927	0.91220	0.0:0.0:1.0:0.0	.	93;57	A8K0Y4;P17677	.;NEUM_HUMAN	H	57;93	ENSP00000305010:D57H;ENSP00000377372:D93H	ENSP00000305010:D57H	D	+	1	0	GAP43	116877688	1.000000	0.71417	0.987000	0.45799	0.793000	0.44817	5.892000	0.69790	2.687000	0.91594	0.655000	0.94253	GAT		PASS	0.488	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2	NM_002045		5	110	5	110	---	---	---	---
FSTL1	11167	broad.mit.edu	37	3	120122198	120122198	+	Silent	SNP	T	T	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr3:120122198T>A	ENST00000295633.3	-	8	941	c.585A>T	c.(583-585)ggA>ggT	p.G195G	FSTL1_ENST00000424703.2_Silent_p.G160G	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	195	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.G195G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		CAACACAGAGTCCCCTGAAAC	0.468																																						uc003eds.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(583-585)GGA>GGT		follistatin-like 1 precursor							80.0	81.0	81.0					3																	120122198		2203	4300	6503	SO:0001819	synonymous_variant	11167				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding	g.chr3:120122198T>A	U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"""EF-hand domain containing"""	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.585A>T	3.37:g.120122198T>A						FSTL1_uc011bjh.1_Silent_p.G160G	p.G195G	NM_007085	NP_009016	Q12841	FSTL1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	8	760	-			195			EF-hand 2.		A8K523|B4DTT5|D3DN90|Q549Z0	Silent	SNP	ENST00000295633.3	37	c.585A>T	CCDS2998.1																																																																																				PASS	0.468	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355399.1	NM_007085		16	65	16	65	---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121410365	121410365	+	Missense_Mutation	SNP	T	T	C	rs116186804	byFrequency	TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr3:121410365T>C	ENST00000340645.5	-	14	7956	c.7831A>G	c.(7831-7833)Ata>Gta	p.I2611V	GOLGB1_ENST00000393667.3_Missense_Mutation_p.I2616V	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2611					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.I2611V(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGCTGGGATATAGATACTTTC	0.393													T|||	6	0.00119808	0.0	0.0	5008	,	,		20109	0.005		0.0	False		,,,				2504	0.001					uc003eei.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(2)|skin(2)	10						c.(7831-7833)ATA>GTA		golgi autoantigen, golgin subfamily b,		T	VAL/ILE	1,4405		0,1,2202	83.0	84.0	84.0		7831	-9.8	0.0	3	dbSNP_132	84	0,8600		0,0,4300	yes	missense	GOLGB1	NM_004487.3	29	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	2611/3260	121410365	1,13005	2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121410365T>C	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.7831A>G	3.37:g.121410365T>C	ENSP00000341848:p.Ile2611Val					GOLGB1_uc010hrc.2_Missense_Mutation_p.I2616V|GOLGB1_uc003eej.3_Missense_Mutation_p.I2577V	p.I2611V	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	7957	-			2611			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.7831A>G	CCDS3004.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	T	0.006	-2.092569	0.00364	2.27E-4	0.0	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.14144	2.53;2.53	4.88	-9.76	0.00503	.	0.921285	0.09247	N	0.828357	T	0.02727	0.0082	N	0.01576	-0.805	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.48833	-0.9000	10	0.25106	T	0.35	.	15.3999	0.74830	0.0:0.714:0.1176:0.1685	.	2616;2616;2611	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	V	2611;2616	ENSP00000341848:I2611V;ENSP00000377275:I2616V	ENSP00000341848:I2611V	I	-	1	0	GOLGB1	122893055	0.122000	0.22280	0.000000	0.03702	0.019000	0.09904	-0.526000	0.06207	-1.967000	0.01008	-2.220000	0.00296	ATA		PASS	0.393	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		33	195	33	195	---	---	---	---
TMCC1	23023	broad.mit.edu	37	3	129370615	129370615	+	Silent	SNP	C	C	T	rs199570130		TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr3:129370615C>T	ENST00000393238.3	-	6	2011	c.1671G>A	c.(1669-1671)acG>acA	p.T557T	TMCC1_ENST00000329333.5_Silent_p.T378T|TMCC1_ENST00000426664.2_Silent_p.T443T|TMCC1_ENST00000432054.2_Silent_p.T233T	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	557						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.T557T(2)	PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGGAGATGCGCGTCTGGCATG	0.587																																						uc003emz.3																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(1669-1671)ACG>ACA		transmembrane and coiled-coil domain family 1							63.0	63.0	63.0					3																	129370615		2203	4300	6503	SO:0001819	synonymous_variant	23023					integral to membrane		g.chr3:129370615C>T	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1671G>A	3.37:g.129370615C>T						TMCC1_uc003emy.3_Silent_p.T233T|TMCC1_uc011blc.1_Silent_p.T378T|TMCC1_uc010htg.2_Silent_p.T443T	p.T557T	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN			7	2172	-			557			Potential.		A8K5Y3|B4DE04|Q68E06|Q8IXM8	Silent	SNP	ENST00000393238.3	37	c.1671G>A	CCDS33855.1																																																																																				PASS	0.587	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		5	108	5	108	---	---	---	---
CLSTN2	64084	broad.mit.edu	37	3	140285066	140285066	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr3:140285066G>T	ENST00000458420.3	+	17	3029	c.2839G>T	c.(2839-2841)Gag>Tag	p.E947*		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	947					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.E947*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AGCCCAGCTGGAGTGGGATGA	0.602										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(2839-2841)GAG>TAG		calsyntenin 2 precursor							86.0	75.0	79.0					3																	140285066		2201	4298	6499	SO:0001587	stop_gained	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140285066G>T	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2839G>T	3.37:g.140285066G>T	ENSP00000402460:p.Glu947*	HNSCC(16;0.037)					p.E947*	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			17	3029	+			947			Cytoplasmic (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Nonsense_Mutation	SNP	ENST00000458420.3	37	c.2839G>T	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	41	8.945713	0.99012	.	.	ENSG00000158258	ENST00000458420	.	.	.	5.35	5.35	0.76521	.	0.354936	0.30060	N	0.010508	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.7342	16.5527	0.84476	0.0:0.0:1.0:0.0	.	.	.	.	X	947	.	.	E	+	1	0	CLSTN2	141767756	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.097000	0.94193	2.503000	0.84419	0.655000	0.94253	GAG		PASS	0.602	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		6	15	6	15	---	---	---	---
ATR	545	broad.mit.edu	37	3	142269086	142269086	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr3:142269086T>C	ENST00000350721.4	-	14	2985	c.2864A>G	c.(2863-2865)cAg>cGg	p.Q955R	ATR_ENST00000383101.3_Missense_Mutation_p.Q891R	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	955					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Q955R(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTCAGCATTCTGGCATGGAGT	0.398								Other conserved DNA damage response genes																														uc003eux.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(2863-2865)CAG>CGG	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							153.0	145.0	148.0					3																	142269086		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142269086T>C	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2864A>G	3.37:g.142269086T>C	ENSP00000343741:p.Gln955Arg						p.Q955R	NM_001184	NP_001175	Q13535	ATR_HUMAN			14	2986	-			955					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.2864A>G	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	T	9.493	1.101140	0.20632	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.03468	3.92;3.98	5.17	1.28	0.21552	Armadillo-like helical (1);Armadillo-type fold (1);	0.419231	0.26761	N	0.022628	T	0.01870	0.0059	N	0.12746	0.255	0.42662	D	0.993488	B	0.12630	0.006	B	0.11329	0.006	T	0.52830	-0.8523	10	0.13853	T	0.58	-0.7288	5.6204	0.17453	0.0:0.1401:0.2729:0.587	.	955	Q13535	ATR_HUMAN	R	955;891	ENSP00000343741:Q955R;ENSP00000372581:Q891R	ENSP00000343741:Q955R	Q	-	2	0	ATR	143751776	1.000000	0.71417	0.916000	0.36221	0.394000	0.30568	3.863000	0.56016	0.038000	0.15604	-1.506000	0.00953	CAG		PASS	0.398	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		25	150	25	150	---	---	---	---
ATR	545	broad.mit.edu	37	3	142272128	142272128	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr3:142272128C>G	ENST00000350721.4	-	13	2867	c.2746G>C	c.(2746-2748)Gca>Cca	p.A916P	ATR_ENST00000383101.3_Missense_Mutation_p.A852P	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	916					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A916P(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CTTTTAGCTGCAACCAGAGCT	0.408								Other conserved DNA damage response genes																														uc003eux.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(2746-2748)GCA>CCA	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							78.0	78.0	78.0					3																	142272128		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142272128C>G	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2746G>C	3.37:g.142272128C>G	ENSP00000343741:p.Ala916Pro						p.A916P	NM_001184	NP_001175	Q13535	ATR_HUMAN			13	2868	-			916					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.2746G>C	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556664	0.86231	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.65178	-0.14;-0.14	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.054062	0.64402	D	0.000001	T	0.58566	0.2131	L	0.27053	0.805	0.58432	D	0.999994	D	0.54397	0.966	P	0.47299	0.543	T	0.58901	-0.7554	10	0.41790	T	0.15	-18.7024	19.8241	0.96610	0.0:1.0:0.0:0.0	.	916	Q13535	ATR_HUMAN	P	916;852	ENSP00000343741:A916P;ENSP00000372581:A852P	ENSP00000343741:A916P	A	-	1	0	ATR	143754818	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.418000	0.44662	2.758000	0.94735	0.655000	0.94253	GCA		PASS	0.408	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		8	88	8	88	---	---	---	---
CPB1	1360	broad.mit.edu	37	3	148563352	148563352	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr3:148563352C>G	ENST00000491148.1	+	10	1254	c.920C>G	c.(919-921)tCc>tGc	p.S307C	CPB1_ENST00000282957.4_Missense_Mutation_p.S307C			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	307						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.S307C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CACTCGTACTCCCAAATGATG	0.443																																						uc003ewl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(919-921)TCC>TGC		pancreatic carboxypeptidase B1 preproprotein							143.0	136.0	138.0					3																	148563352		2203	4300	6503	SO:0001583	missense	1360				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148563352C>G	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.920C>G	3.37:g.148563352C>G	ENSP00000417222:p.Ser307Cys						p.S307C	NM_001871	NP_001862	P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		9	943	+			307					O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	ENST00000491148.1	37	c.920C>G	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877212	0.51801	.	.	ENSG00000153002	ENST00000491148;ENST00000282957	T;T	0.15256	2.44;2.44	5.69	5.69	0.88448	Peptidase M14, carboxypeptidase A (4);	0.103605	0.64402	D	0.000002	T	0.58221	0.2107	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73020	-0.4114	10	0.87932	D	0	.	15.3039	0.73976	0.0:0.8606:0.1394:0.0	.	307	P15086	CBPB1_HUMAN	C	307	ENSP00000417222:S307C;ENSP00000282957:S307C	ENSP00000282957:S307C	S	+	2	0	CPB1	150046042	1.000000	0.71417	0.997000	0.53966	0.090000	0.18270	5.678000	0.68153	2.677000	0.91161	0.655000	0.94253	TCC		PASS	0.443	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871		22	140	22	140	---	---	---	---
MAN2B2	23324	broad.mit.edu	37	4	6588845	6588845	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr4:6588845C>G	ENST00000285599.3	+	4	550	c.514C>G	c.(514-516)Ctc>Gtc	p.L172V	MAN2B2_ENST00000504248.1_Missense_Mutation_p.L172V	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	172					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.L172V(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CAATGCCCACCTCGGCTCCCG	0.662																																						uc003gjf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(514-516)CTC>GTC		mannosidase, alpha, class 2B, member 2							47.0	45.0	46.0					4																	6588845		2203	4300	6503	SO:0001583	missense	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6588845C>G	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.514C>G	4.37:g.6588845C>G	ENSP00000285599:p.Leu172Val					MAN2B2_uc003gje.1_Missense_Mutation_p.L172V|MAN2B2_uc011bwf.1_Missense_Mutation_p.L172V	p.L172V	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN			4	550	+			172					Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	c.514C>G	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	C	9.291	1.050541	0.19827	.	.	ENSG00000013288	ENST00000285599;ENST00000504248	T;T	0.21191	2.02;2.02	4.09	1.28	0.21552	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.414610	0.23896	N	0.043498	T	0.13286	0.0322	N	0.20401	0.57	0.44976	D	0.997994	B;B;B	0.25169	0.07;0.119;0.004	B;B;B	0.31812	0.095;0.136;0.009	T	0.13150	-1.0520	10	0.32370	T	0.25	-16.0661	8.5413	0.33395	0.1959:0.5448:0.2593:0.0	.	172;172;172	E9PCD7;Q9Y2E5;Q9Y2E5-2	.;MA2B2_HUMAN;.	V	172	ENSP00000285599:L172V;ENSP00000423129:L172V	ENSP00000285599:L172V	L	+	1	0	MAN2B2	6639746	0.988000	0.35896	0.961000	0.40146	0.855000	0.48748	0.587000	0.23909	-0.024000	0.13941	0.549000	0.68633	CTC		PASS	0.662	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		4	79	4	79	---	---	---	---
LPHN3	23284	broad.mit.edu	37	4	62679551	62679551	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr4:62679551C>T	ENST00000514591.1	+	8	1549	c.1220C>T	c.(1219-1221)tCa>tTa	p.S407L	LPHN3_ENST00000511324.1_Missense_Mutation_p.S475L|LPHN3_ENST00000508693.1_Missense_Mutation_p.S475L|LPHN3_ENST00000512091.2_Missense_Mutation_p.S407L|LPHN3_ENST00000506746.1_Missense_Mutation_p.S475L|LPHN3_ENST00000506720.1_Missense_Mutation_p.S475L|LPHN3_ENST00000504896.1_Missense_Mutation_p.S407L|LPHN3_ENST00000514157.1_Missense_Mutation_p.S407L|LPHN3_ENST00000507625.1_Missense_Mutation_p.S475L|LPHN3_ENST00000507164.1_Missense_Mutation_p.S475L|LPHN3_ENST00000506700.1_Missense_Mutation_p.S407L|LPHN3_ENST00000514996.1_Missense_Mutation_p.S407L|LPHN3_ENST00000508946.1_Missense_Mutation_p.S407L|LPHN3_ENST00000545650.1_Missense_Mutation_p.S407L|LPHN3_ENST00000509896.1_Missense_Mutation_p.S475L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	407					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.S407L(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ggacaagtttcatacatttct	0.358																																						uc010ihh.2																			3	Substitution - Missense(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(1219-1221)TCA>TTA		latrophilin 3 precursor							126.0	119.0	121.0					4																	62679551		1933	4147	6080	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62679551C>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1220C>T	4.37:g.62679551C>T	ENSP00000422533:p.Ser407Leu					LPHN3_uc003hcq.3_Missense_Mutation_p.S407L|LPHN3_uc003hcs.1_Missense_Mutation_p.S236L	p.S407L	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			6	1393	+			407			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.1220C>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450094	0.43531	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70869	-0.48;-0.48;-0.52;-0.52;-0.48;-0.48;-0.51;-0.51;-0.51;-0.47;-0.47;-0.43;-0.46;-0.46;-0.43	3.67	3.67	0.42095	.	0.237776	0.36200	N	0.002730	T	0.62575	0.2439	N	0.19112	0.55	0.35322	D	0.784835	B;P	0.37500	0.0;0.597	B;P	0.46110	0.001;0.504	T	0.73959	-0.3818	10	0.72032	D	0.01	.	11.1945	0.48704	0.0:1.0:0.0:0.0	.	407;407	E9PE04;Q9HAR2-2	.;.	L	407;407;475;475;407;407;407;407;407;475;475;475;407;407;407;475;475;407	ENSP00000423388:S407L;ENSP00000422533:S407L;ENSP00000423787:S475L;ENSP00000425033:S475L;ENSP00000424120:S407L;ENSP00000439831:S407L;ENSP00000421476:S475L;ENSP00000424030:S475L;ENSP00000421372:S475L;ENSP00000425201:S407L;ENSP00000423434:S407L;ENSP00000421627:S407L;ENSP00000420931:S475L;ENSP00000425884:S475L;ENSP00000424258:S407L	ENSP00000280009:S407L	S	+	2	0	LPHN3	62362146	0.600000	0.26899	0.601000	0.28877	0.997000	0.91878	2.846000	0.48262	2.343000	0.79666	0.563000	0.77884	TCA		PASS	0.358	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			11	62	11	62	---	---	---	---
TECRL	253017	broad.mit.edu	37	4	65274916	65274916	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr4:65274916C>A	ENST00000381210.3	-	1	264	c.154G>T	c.(154-156)Gtc>Ttc	p.V52F	TECRL_ENST00000507440.1_Missense_Mutation_p.V52F	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	52					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	p.V52F(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GAATGTTTGACTGCTGGAGTT	0.358																																						uc003hcv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(154-156)GTC>TTC		steroid 5 alpha-reductase 2-like 2							74.0	73.0	73.0					4																	65274916		2203	4300	6503	SO:0001583	missense	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65274916C>A	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.154G>T	4.37:g.65274916C>A	ENSP00000370607:p.Val52Phe					TECRL_uc003hcw.2_Missense_Mutation_p.V52F	p.V52F	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN			1	263	-			52						Missense_Mutation	SNP	ENST00000381210.3	37	c.154G>T	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	C	5.461	0.270222	0.10349	.	.	ENSG00000205678	ENST00000507440;ENST00000381210;ENST00000509536	T;T;T	0.44083	0.93;0.93;0.93	4.99	2.24	0.28232	.	0.430236	0.20811	N	0.085243	T	0.31231	0.0790	L	0.46157	1.445	0.09310	N	0.999991	P;B	0.40107	0.703;0.278	B;B	0.37508	0.252;0.088	T	0.15578	-1.0432	10	0.52906	T	0.07	-11.8159	5.5872	0.17281	0.0:0.5167:0.3081:0.1751	.	52;52	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	F	52	ENSP00000426043:V52F;ENSP00000370607:V52F;ENSP00000422497:V52F	ENSP00000370607:V52F	V	-	1	0	TECRL	64957511	0.023000	0.18921	0.121000	0.21740	0.073000	0.16967	0.141000	0.16076	0.210000	0.20664	0.655000	0.94253	GTC		PASS	0.358	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		18	75	18	75	---	---	---	---
SLC4A4	8671	broad.mit.edu	37	4	72412222	72412222	+	Silent	SNP	A	A	G			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr4:72412222A>G	ENST00000264485.5	+	19	2715	c.2598A>G	c.(2596-2598)gaA>gaG	p.E866E	SLC4A4_ENST00000340595.3_Silent_p.E822E|SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000425175.1_Silent_p.E866E	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	866					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.E822E(1)|p.E866E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CACCTGGAGAACAACCAAAGT	0.483																																						uc003hfy.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|kidney(1)|skin(1)	5						c.(2596-2598)GAA>GAG		solute carrier family 4, sodium bicarbonate							93.0	77.0	82.0					4																	72412222		2203	4300	6503	SO:0001819	synonymous_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72412222A>G	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2598A>G	4.37:g.72412222A>G						SLC4A4_uc010iic.2_Silent_p.E866E|SLC4A4_uc010iib.2_Intron|SLC4A4_uc003hfz.2_Silent_p.E866E|SLC4A4_uc003hgc.3_Silent_p.E822E|SLC4A4_uc010iid.2_Silent_p.E70E	p.E866E	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		19	2715	+			866			Extracellular (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	37	c.2598A>G	CCDS43236.1																																																																																				PASS	0.483	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		12	63	12	63	---	---	---	---
PPM1K	152926	broad.mit.edu	37	4	89186283	89186283	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr4:89186283T>A	ENST00000608933.1	-	6	1246	c.857A>T	c.(856-858)cAt>cTt	p.H286L	PPM1K_ENST00000508256.1_Missense_Mutation_p.H67L|PPM1K_ENST00000295908.7_Intron	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	286	PP2C-like.				protein dephosphorylation (GO:0006470)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.H286L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		ATCAGCATGATGTAACTGCAA	0.413																																						uc003hrm.3																			1	Substitution - Missense(1)		lung(1)		0						c.(856-858)CAT>CTT		protein phosphatase 1K (PP2C domain containing)							170.0	156.0	161.0					4																	89186283		2203	4300	6503	SO:0001583	missense	152926				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr4:89186283T>A	BC037552	CCDS3629.1	4q22.1	2012-04-17	2010-03-05		ENSG00000163644	ENSG00000163644	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	25415	protein-coding gene	gene with protein product	"""PP2C-type mitochondrial phosphoprotein phosphatase"", ""protein phosphatase 2C kappa"", ""branched-chain &#945;-ketoacid dehydrogenase phosphatase"""	611065	"""protein phosphatase 1K (PP2C domain containing)"""			22291014	Standard	NM_152542		Approved	DKFZp761G058, PP2Ckappa, hPTMP, PP2Cm, BDP	uc003hrm.5	Q8N3J5	OTTHUMG00000130952	ENST00000608933.1:c.857A>T	4.37:g.89186283T>A	ENSP00000477341:p.His286Leu						p.H286L	NM_152542	NP_689755	Q8N3J5	PPM1K_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000192)	6	1247	-		Hepatocellular(203;0.114)	286			PP2C-like.		B2RAZ1|Q05CT5|Q49AB5|Q4W5E6|Q56AN8|Q8IUZ7|Q8IXG7|Q8ND70|Q96NT4	Missense_Mutation	SNP	ENST00000608933.1	37	c.857A>T	CCDS3629.1	.	.	.	.	.	.	.	.	.	.	T	15.03	2.711657	0.48517	.	.	ENSG00000163644	ENST00000295908	T	0.09445	2.98	5.12	5.12	0.69794	Protein phosphatase 2C-like (5);	0.315246	0.38778	N	0.001572	T	0.05823	0.0152	N	0.04132	-0.27	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42015	-0.9476	10	0.27082	T	0.32	-1.0329	14.3343	0.66578	0.0:0.0:0.0:1.0	.	286	Q8N3J5	PPM1K_HUMAN	L	286	ENSP00000295908:H286L	ENSP00000295908:H286L	H	-	2	0	PPM1K	89405307	1.000000	0.71417	0.219000	0.23793	0.096000	0.18686	6.082000	0.71318	2.281000	0.76405	0.533000	0.62120	CAT		PASS	0.413	PPM1K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253553.4	NM_152542		31	208	31	208	---	---	---	---
CENPE	1062	broad.mit.edu	37	4	104082506	104082506	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr4:104082506G>T	ENST00000265148.3	-	19	2040	c.1951C>A	c.(1951-1953)Ctg>Atg	p.L651M	CENPE_ENST00000380026.3_Missense_Mutation_p.L626M	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	651					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.L651M(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTCTCCTTCAGCTCCAGATTT	0.333																																						uc003hxb.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(4)	9						c.(1951-1953)CTG>ATG		centromere protein E							86.0	90.0	89.0					4																	104082506		2202	4300	6502	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104082506G>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.1951C>A	4.37:g.104082506G>T	ENSP00000265148:p.Leu651Met					CENPE_uc003hxc.1_Missense_Mutation_p.L626M	p.L651M	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	19	2041	-			651			Potential.		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.1951C>A	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428044	0.43122	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.71934	3.44;-0.61;3.44	5.32	2.64	0.31445	.	.	.	.	.	T	0.79616	0.4476	M	0.70275	2.135	0.43088	D	0.994754	D;D	0.89917	0.999;1.0	D;D	0.87578	0.966;0.998	T	0.77456	-0.2581	9	0.56958	D	0.05	.	7.0412	0.25021	0.2136:0.1348:0.6516:0.0	.	626;651	Q02224-3;Q02224	.;CENPE_HUMAN	M	651;651;626;651	ENSP00000265148:L651M;ENSP00000369365:L626M;ENSP00000423981:L651M	ENSP00000265148:L651M	L	-	1	2	CENPE	104301955	0.642000	0.27260	0.992000	0.48379	0.885000	0.51271	1.619000	0.36965	0.624000	0.30286	0.585000	0.79938	CTG		PASS	0.333	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				20	136	20	136	---	---	---	---
CTSO	1519	broad.mit.edu	37	4	156863508	156863508	+	Silent	SNP	C	C	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr4:156863508C>T	ENST00000433477.3	-	3	414	c.345G>A	c.(343-345)agG>agA	p.R115R		NM_001334.2	NP_001325.1	P43235	CATK_HUMAN	cathepsin O	122					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)	p.R115R(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		CCTGCTTGTCCCTCCAGTCAA	0.423																																					Pancreas(148;2303 2598 8989 35298)	uc003ipg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(343-345)AGG>AGA		cathepsin O preproprotein							155.0	129.0	138.0					4																	156863508		2203	4300	6503	SO:0001819	synonymous_variant	1519				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr4:156863508C>T	X77383	CCDS3794.1	4q32.1	2012-10-03			ENSG00000256043	ENSG00000256043		"""Cathepsins"""	2542	protein-coding gene	gene with protein product		600550		CTSO1		9790772	Standard	NM_001334		Approved		uc003ipg.3	P43234	OTTHUMG00000161942	ENST00000433477.3:c.345G>A	4.37:g.156863508C>T							p.R115R	NM_001334	NP_001325	P43234	CATO_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)	3	394	-	all_hematologic(180;0.24)	Renal(120;0.0458)	115					Q6FHS6	Silent	SNP	ENST00000433477.3	37	c.345G>A	CCDS3794.1																																																																																				PASS	0.423	CTSO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366469.1	NM_001334		14	123	14	123	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177081166	177081166	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr4:177081166G>T	ENST00000280190.4	+	20	2775	c.2619G>T	c.(2617-2619)caG>caT	p.Q873H	WDR17_ENST00000508596.1_Missense_Mutation_p.Q849H|WDR17_ENST00000393643.2_Missense_Mutation_p.Q849H|WDR17_ENST00000507824.2_Missense_Mutation_p.Q856H			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	873								p.Q873H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AATTAATCCAGGAAGATAAGG	0.338																																						uc003iuj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(2617-2619)CAG>CAT		WD repeat domain 17 isoform 1							89.0	83.0	85.0					4																	177081166		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177081166G>T	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2619G>T	4.37:g.177081166G>T	ENSP00000280190:p.Gln873His					WDR17_uc003iuk.2_Missense_Mutation_p.Q849H|WDR17_uc003ium.3_Missense_Mutation_p.Q849H|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.Q92H	p.Q873H	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	20	2775	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	873					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.2619G>T	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.03|15.03	2.713623|2.713623	0.48517|0.48517	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000443118|ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.|T;T;T	.|0.58210	.|0.37;0.4;0.35	5.52|5.52	2.88|2.88	0.33553|0.33553	.|.	.|0.521786	.|0.19962	.|N	.|0.102191	.|T	.|0.50069	.|0.1594	L|L	0.57536|0.57536	1.79|1.79	0.40070|0.40070	D|D	0.976006|0.976006	.|P;P;P	.|0.44309	.|0.832;0.832;0.832	.|P;P;P	.|0.44447	.|0.45;0.45;0.45	.|T	.|0.47535	.|-0.9110	.|10	.|0.56958	.|D	.|0.05	-6.6291|-6.6291	8.0984|8.0984	0.30842|0.30842	0.3764:0.0:0.6236:0.0|0.3764:0.0:0.6236:0.0	.|.	.|849;849;873	.|E7EP77;E7EQX0;Q8IZU2	.|.;.;WDR17_HUMAN	X|H	116|849;849;873;856	.|ENSP00000422763:Q849H;ENSP00000377258:Q849H;ENSP00000280190:Q873H	.|ENSP00000280190:Q873H	G|Q	+|+	1|3	0|2	WDR17|WDR17	177318160|177318160	0.979000|0.979000	0.34478|0.34478	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	0.178000|0.178000	0.16820|0.16820	0.300000|0.300000	0.22699|0.22699	0.655000|0.655000	0.94253|0.94253	GGA|CAG		PASS	0.338	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			10	98	10	98	---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5242297	5242297	+	Silent	SNP	C	C	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr5:5242297C>T	ENST00000274181.7	+	17	2793	c.2655C>T	c.(2653-2655)tgC>tgT	p.C885C		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	885	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C885C(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCGTGTCCTGCGGAGGGGGTA	0.612																																						uc003jdl.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(2653-2655)TGC>TGT		ADAM metallopeptidase with thrombospondin type 1							40.0	45.0	43.0					5																	5242297		2109	4230	6339	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5242297C>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2655C>T	5.37:g.5242297C>T						ADAMTS16_uc003jdk.1_Silent_p.C885C	p.C885C	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			17	2793	+			885			TSP type-1 2.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.2655C>T	CCDS43299.1																																																																																				PASS	0.612	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		11	106	11	106	---	---	---	---
ADCY2	108	broad.mit.edu	37	5	7802424	7802424	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr5:7802424G>A	ENST00000338316.4	+	21	2811	c.2722G>A	c.(2722-2724)Gag>Aag	p.E908K	ADCY2_ENST00000537121.1_Missense_Mutation_p.E728K	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	908					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.E908K(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CGTGAACAAGGAGGGCTTGGA	0.498																																						uc003jdz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)|skin(1)	7						c.(2722-2724)GAG>AAG		adenylate cyclase 2							94.0	94.0	94.0					5																	7802424		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7802424G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2722G>A	5.37:g.7802424G>A	ENSP00000342952:p.Glu908Lys					ADCY2_uc011cmo.1_Missense_Mutation_p.E728K|ADCY2_uc010itm.1_Missense_Mutation_p.E104K	p.E908K	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			21	2789	+			908			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.2722G>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	34	5.320294	0.95682	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	T;T	0.31247	1.5;1.5	5.24	5.24	0.73138	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.49541	0.1563	L	0.41710	1.295	0.80722	D	1	D;D	0.89917	1.0;0.984	D;D	0.91635	0.999;0.956	T	0.50972	-0.8764	10	0.87932	D	0	.	18.8415	0.92186	0.0:0.0:1.0:0.0	.	728;908	B7Z2C1;Q08462	.;ADCY2_HUMAN	K	908;61;741;728	ENSP00000342952:E908K;ENSP00000444803:E728K	ENSP00000342952:E908K	E	+	1	0	ADCY2	7855424	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.506000	0.97992	2.447000	0.82792	0.591000	0.81541	GAG		PASS	0.498	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		21	81	21	81	---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11732318	11732318	+	Nonsense_Mutation	SNP	A	A	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr5:11732318A>T	ENST00000304623.8	-	2	293	c.104T>A	c.(103-105)tTa>tAa	p.L35*	CTNND2_ENST00000359640.2_Nonsense_Mutation_p.L35*|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	35					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L35*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGAGGTGTTTAAGCCGGGGCT	0.507																																						uc003jfa.1																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(103-105)TTA>TAA		catenin (cadherin-associated protein), delta 2							137.0	135.0	136.0					5																	11732318		2203	4300	6503	SO:0001587	stop_gained	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11732318A>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.104T>A	5.37:g.11732318A>T	ENSP00000307134:p.Leu35*					CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA	p.L35*	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			2	249	-			35					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Nonsense_Mutation	SNP	ENST00000304623.8	37	c.104T>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	A	39	7.591110	0.98378	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000502551;ENST00000508761	.	.	.	5.91	5.91	0.95273	.	0.000000	0.34603	N	0.003828	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-6.189	14.295	0.66304	1.0:0.0:0.0:0.0	.	.	.	.	X	35;35;21;21	.	ENSP00000307134:L35X	L	-	2	0	CTNND2	11785318	1.000000	0.71417	0.752000	0.31206	0.981000	0.71138	8.636000	0.91010	2.256000	0.74724	0.523000	0.50628	TTA		PASS	0.507	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		19	176	19	176	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13870923	13870923	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr5:13870923T>C	ENST00000265104.4	-	24	3891	c.3787A>G	c.(3787-3789)Ata>Gta	p.I1263V	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1263	Stem. {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.I1263V(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)					TCCTCCCTTATTTCTTTCAGC	0.338									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(3787-3789)ATA>GTA		dynein, axonemal, heavy chain 5							84.0	82.0	83.0					5																	13870923		2203	4300	6503	SO:0001583	missense	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.chr5:13870923T>C	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.3787A>G	5.37:g.13870923T>C	ENSP00000265104:p.Ile1263Val						p.I1263V	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			24	3829	-	Lung NSC(4;0.00476)		1263			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.3787A>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	9.319	1.057488	0.19907	.	.	ENSG00000039139	ENST00000265104	T	0.21734	1.99	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.20007	0.0481	L	0.43554	1.36	0.80722	D	1	B	0.32338	0.365	B	0.31442	0.13	T	0.03453	-1.1035	10	0.22706	T	0.39	.	15.7563	0.78030	0.0:0.0:0.0:1.0	.	1263	Q8TE73	DYH5_HUMAN	V	1263	ENSP00000265104:I1263V	ENSP00000265104:I1263V	I	-	1	0	DNAH5	13923923	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	5.951000	0.70273	2.111000	0.64477	0.533000	0.62120	ATA		PASS	0.338	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		21	134	21	134	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21842274	21842274	+	Silent	SNP	G	G	C			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr5:21842274G>C	ENST00000382254.1	-	8	1896	c.810C>G	c.(808-810)ccC>ccG	p.P270P	CDH12_ENST00000522262.1_Silent_p.P230P|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Silent_p.P270P	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	270	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P270P(2)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ACATACTTTTGGGGAATCGAG	0.408										HNSCC(59;0.17)																												uc010iuc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(808-810)CCC>CCG		cadherin 12, type 2 preproprotein							293.0	225.0	248.0					5																	21842274		2203	4300	6503	SO:0001819	synonymous_variant	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21842274G>C	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.810C>G	5.37:g.21842274G>C		HNSCC(59;0.17)				CDH12_uc011cno.1_Silent_p.P230P|CDH12_uc003jgk.2_Silent_p.P270P	p.P270P	NM_004061	NP_004052	P55289	CAD12_HUMAN			5	1268	-			270			Extracellular (Potential).|Cadherin 3.		B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	ENST00000382254.1	37	c.810C>G	CCDS3890.1																																																																																				PASS	0.408	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		48	213	48	213	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31983589	31983589	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr5:31983589G>A	ENST00000438447.1	+	3	1193	c.805G>A	c.(805-807)Ggc>Agc	p.G269S	PDZD2_ENST00000282493.3_Missense_Mutation_p.G269S			O15018	PDZD2_HUMAN	PDZ domain containing 2	269					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.G269S(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						GCTAGAAAATGGCCCAGATTC	0.557																																						uc003jhl.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(805-807)GGC>AGC		PDZ domain containing 2							67.0	70.0	69.0					5																	31983589		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31983589G>A	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.805G>A	5.37:g.31983589G>A	ENSP00000402033:p.Gly269Ser					PDZD2_uc003jhm.2_Missense_Mutation_p.G269S|PDZD2_uc011cnx.1_Missense_Mutation_p.G95S	p.G269S	NM_178140	NP_835260	O15018	PDZD2_HUMAN			3	1193	+			269					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.805G>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062379	0.55432	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06371	3.31;3.31	5.53	5.53	0.82687	.	0.000000	0.47852	D	0.000208	T	0.05273	0.0140	L	0.29908	0.895	0.42909	D	0.994258	B;P	0.41475	0.024;0.751	B;B	0.32677	0.007;0.15	T	0.50338	-0.8840	10	0.32370	T	0.25	.	14.9533	0.71091	0.0:0.0:1.0:0.0	.	95;269	B4E3P2;O15018	.;PDZD2_HUMAN	S	269	ENSP00000402033:G269S;ENSP00000282493:G269S	ENSP00000282493:G269S	G	+	1	0	PDZD2	32019346	1.000000	0.71417	0.999000	0.59377	0.488000	0.33401	2.503000	0.45407	2.597000	0.87782	0.460000	0.39030	GGC		PASS	0.557	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			27	189	27	189	---	---	---	---
SLC1A3	6507	broad.mit.edu	37	5	36608603	36608603	+	Silent	SNP	A	A	G			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr5:36608603A>G	ENST00000265113.4	+	2	554	c.78A>G	c.(76-78)acA>acG	p.T26T	SLC1A3_ENST00000506725.1_3'UTR|SLC1A3_ENST00000381918.3_Silent_p.T26T	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	26					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.T26T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTAAACGCACACTTTTGGCCA	0.458																																						uc003jkj.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(76-78)ACA>ACG		solute carrier family 1 (glial high affinity	L-Glutamic Acid(DB00142)						169.0	165.0	166.0					5																	36608603		2203	4300	6503	SO:0001819	synonymous_variant	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36608603A>G		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.78A>G	5.37:g.36608603A>G						SLC1A3_uc011cox.1_5'UTR|SLC1A3_uc010iuy.2_Silent_p.T26T	p.T26T	NM_004172	NP_004163	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		2	554	+	all_lung(31;0.000245)		26			Cytoplasmic (Potential).		B2R5T3|Q4JCQ8	Silent	SNP	ENST00000265113.4	37	c.78A>G	CCDS3919.1																																																																																				PASS	0.458	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		60	271	60	271	---	---	---	---
C5orf42	65250	broad.mit.edu	37	5	37169315	37169315	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr5:37169315G>C	ENST00000508244.1	-	33	6904	c.6811C>G	c.(6811-6813)Ctg>Gtg	p.L2271V	C5orf42_ENST00000425232.2_Missense_Mutation_p.L2271V|C5orf42_ENST00000274258.7_Missense_Mutation_p.L1151V			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2271						integral component of membrane (GO:0016021)		p.L2271V(1)|p.L1151V(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTCTGTGGCAGAGCAGGTTGG	0.478																																						uc011cpa.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(2)|skin(1)	7						c.(6811-6813)CTG>GTG		hypothetical protein LOC65250							91.0	91.0	91.0					5																	37169315		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37169315G>C		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6811C>G	5.37:g.37169315G>C	ENSP00000421690:p.Leu2271Val					C5orf42_uc011coy.1_Missense_Mutation_p.L771V|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.L1346V|C5orf42_uc003jkr.1_Missense_Mutation_p.L304V	p.L2271V	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		34	7042	-	all_lung(31;0.000616)		2271					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.6811C>G	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	0.325	-0.959354	0.02267	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.23147	1.93;1.93;1.93;1.92	5.53	-7.74	0.01241	.	1.235450	0.06149	N	0.673715	T	0.10465	0.0256	N	0.14661	0.345	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.12156	0.004;0.007	T	0.41980	-0.9478	10	0.05721	T	0.95	.	9.3886	0.38359	0.2429:0.3669:0.3902:0.0	.	2271;1151	E9PH94;Q9H799	.;CE042_HUMAN	V	2271;2271;1151;1319;1151	ENSP00000421690:L2271V;ENSP00000389014:L2271V;ENSP00000274258:L1151V;ENSP00000424223:L1319V	ENSP00000274258:L1151V	L	-	1	2	C5orf42	37205072	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.419000	0.07071	-1.212000	0.02620	-0.947000	0.02670	CTG		PASS	0.478	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		26	158	26	158	---	---	---	---
C7	730	broad.mit.edu	37	5	40981570	40981570	+	Silent	SNP	C	C	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr5:40981570C>T	ENST00000313164.9	+	18	2786	c.2427C>T	c.(2425-2427)aaC>aaT	p.N809N		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	809	Factor I module (FIM) 2.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.N809N(1)					Ovarian(839;0.0112)				TGGAAGTGAACGGCAAGGAGC	0.542																																						uc003jmh.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2425-2427)AAC>AAT		complement component 7 precursor							74.0	76.0	75.0					5																	40981570		2137	4247	6384	SO:0001819	synonymous_variant	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40981570C>T	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.2427C>T	5.37:g.40981570C>T							p.N809N	NM_000587	NP_000578	P10643	CO7_HUMAN			18	2541	+		Ovarian(839;0.0112)	809			Complement control factor I module 2.		Q6P3T5|Q92489	Silent	SNP	ENST00000313164.9	37	c.2427C>T	CCDS47201.1																																																																																				PASS	0.542	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			8	35	8	35	---	---	---	---
HTR1A	3350	broad.mit.edu	37	5	63256546	63256546	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr5:63256546T>C	ENST00000323865.3	-	1	1234	c.1001A>G	c.(1000-1002)aAg>aGg	p.K334R	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	334					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.K334R(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CAGGGCCATCTTGCGCTTCGC	0.597																																						uc011cqt.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)	4						c.(1000-1002)AAG>AGG		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						95.0	98.0	97.0					5																	63256546		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256546T>C	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.1001A>G	5.37:g.63256546T>C	ENSP00000316244:p.Lys334Arg						p.K334R	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	1001	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	334			Cytoplasmic (By similarity).		Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.1001A>G	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.597196	0.46318	.	.	ENSG00000178394	ENST00000323865	T	0.46063	0.88	5.7	4.51	0.55191	GPCR, rhodopsin-like superfamily (1);	0.108379	0.64402	D	0.000012	T	0.28466	0.0704	L	0.37897	1.145	0.47862	D	0.999536	B	0.29188	0.236	B	0.31686	0.134	T	0.05099	-1.0906	10	0.11182	T	0.66	.	6.6837	0.23134	0.0:0.0835:0.1565:0.76	.	334	P08908	5HT1A_HUMAN	R	334	ENSP00000316244:K334R	ENSP00000316244:K334R	K	-	2	0	HTR1A	63292302	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.976000	0.63785	0.957000	0.37930	0.533000	0.62120	AAG		PASS	0.597	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		27	144	27	144	---	---	---	---
CCDC125	202243	broad.mit.edu	37	5	68590723	68590723	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr5:68590723G>A	ENST00000396496.2	-	9	928	c.821C>T	c.(820-822)gCg>gTg	p.A274V	CCDC125_ENST00000383374.2_Intron|CCDC125_ENST00000511257.1_Missense_Mutation_p.A149V|CCDC125_ENST00000396499.1_Missense_Mutation_p.A274V|CCDC125_ENST00000460090.1_5'UTR			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	274						cytoplasm (GO:0005737)		p.A274V(2)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		TCCGAGGACCGCAAGCTTTAA	0.488																																						uc003jvv.1																			2	Substitution - Missense(2)		lung(1)|kidney(1)		0						c.(820-822)GCG>GTG		coiled-coil domain containing 125							83.0	85.0	85.0					5																	68590723		2203	4300	6503	SO:0001583	missense	202243					cytoplasm		g.chr5:68590723G>A	AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.821C>T	5.37:g.68590723G>A	ENSP00000379754:p.Ala274Val					CCDC125_uc003jvx.1_Missense_Mutation_p.A273V|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_Missense_Mutation_p.A149V	p.A274V	NM_176816	NP_789786	Q86Z20	CC125_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)	8	864	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	274					Q86Z19	Missense_Mutation	SNP	ENST00000396496.2	37	c.821C>T	CCDS4000.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032379	0.54790	.	.	ENSG00000183323	ENST00000396496;ENST00000396499;ENST00000511257	T;T;T	0.58210	0.35;0.35;0.35	5.1	3.3	0.37823	.	0.283555	0.39146	N	0.001444	T	0.45216	0.1331	M	0.64404	1.975	0.09310	N	1	P;P	0.47841	0.862;0.901	B;B	0.39771	0.309;0.187	T	0.42050	-0.9474	10	0.49607	T	0.09	7.2848	7.4586	0.27280	0.0859:0.0:0.7482:0.1659	.	149;274	Q86Z20-2;Q86Z20	.;CC125_HUMAN	V	274;274;149	ENSP00000379754:A274V;ENSP00000379756:A274V;ENSP00000426795:A149V	ENSP00000379754:A274V	A	-	2	0	CCDC125	68626479	1.000000	0.71417	0.013000	0.15412	0.609000	0.37215	3.984000	0.56923	0.722000	0.32252	0.650000	0.86243	GCG		PASS	0.488	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254027.4	NM_176816		5	196	5	196	---	---	---	---
ERAP1	51752	broad.mit.edu	37	5	96126064	96126064	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr5:96126064G>A	ENST00000443439.2	-	10	1525	c.1459C>T	c.(1459-1461)Cct>Tct	p.P487S	ERAP1_ENST00000296754.3_Missense_Mutation_p.P487S	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	487					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)	p.P487S(1)		endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		CCATCTGTAGGGCAAATCTAA	0.363																																						uc003kmm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1459-1461)CCT>TCT		type 1 tumor necrosis factor receptor shedding							127.0	122.0	124.0					5																	96126064		2203	4300	6503	SO:0001583	missense	51752				angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding	g.chr5:96126064G>A	AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"""aminopeptidase regulator of TNFR1 shedding"", ""adipocyte-derived leucine aminopeptidase"", ""puromycin-insensitive leucyl-specific aminopeptidase"""	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.1459C>T	5.37:g.96126064G>A	ENSP00000406304:p.Pro487Ser					ERAP1_uc003kml.2_Missense_Mutation_p.P487S|ERAP1_uc010jbm.1_Missense_Mutation_p.P299S|ERAP1_uc003kmn.2_Missense_Mutation_p.P487S	p.P487S	NM_001040458	NP_001035548	Q9NZ08	ERAP1_HUMAN		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)	10	1806	-		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)	487			Lumenal (Potential).		O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Missense_Mutation	SNP	ENST00000443439.2	37	c.1459C>T	CCDS47250.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723707	0.30593	.	.	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384	T;T	0.04603	3.59;3.59	5.39	5.39	0.77823	.	0.693037	0.14400	N	0.321931	T	0.06188	0.0160	L	0.39397	1.21	0.39632	D	0.970181	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.12156	0.003;0.003;0.007	T	0.34229	-0.9837	10	0.07813	T	0.8	.	18.7467	0.91795	0.0:0.0:1.0:0.0	.	487;487;487	A8K6H1;Q9NZ08;Q9NZ08-2	.;ERAP1_HUMAN;.	S	487	ENSP00000296754:P487S;ENSP00000406304:P487S	ENSP00000296754:P487S	P	-	1	0	ERAP1	96151820	0.976000	0.34144	0.857000	0.33713	0.922000	0.55478	2.725000	0.47294	2.540000	0.85666	0.655000	0.94253	CCT		PASS	0.363	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442		23	51	23	51	---	---	---	---
RAPGEF6	51735	broad.mit.edu	37	5	130799800	130799800	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr5:130799800A>G	ENST00000509018.1	-	18	2619	c.2414T>C	c.(2413-2415)gTc>gCc	p.V805A	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.V805A|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.V805A|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.V810A|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.V520A|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.V805A|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.V805A|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.V855A	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	805	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)	p.V805A(2)|p.V810A(1)|p.V855A(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CTGTTTTATGACACCCTCAGG	0.383																																					Melanoma(168;435 1955 13113 13877 23213)	uc003kvn.1																			4	Substitution - Missense(4)		lung(4)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(2413-2415)GTC>GCC		PDZ domain-containing guanine nucleotide							108.0	102.0	104.0					5																	130799800		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130799800A>G	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.2414T>C	5.37:g.130799800A>G	ENSP00000421684:p.Val805Ala					RAPGEF6_uc003kvp.1_Missense_Mutation_p.V855A|RAPGEF6_uc003kvo.1_Missense_Mutation_p.V810A|RAPGEF6_uc010jdi.1_Missense_Mutation_p.V805A|RAPGEF6_uc010jdj.1_Missense_Mutation_p.V805A|RAPGEF6_uc003kvq.2_Missense_Mutation_p.V522A|RAPGEF6_uc003kvr.2_Missense_Mutation_p.V805A|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.V805A	p.V805A	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	18	2620	-			805			Ras-associating.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.2414T>C	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	A	32	5.167735	0.94768	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35	5.79	5.79	0.91817	Ras-association (3);Ras guanine nucleotide exchange factor, domain (1);	0.053833	0.64402	D	0.000001	T	0.39627	0.1085	M	0.64997	1.995	0.80722	D	1	D;P;P;P;D;D;D	0.63880	0.988;0.939;0.925;0.92;0.993;0.985;0.974	P;P;P;P;D;P;D	0.67231	0.87;0.76;0.737;0.734;0.95;0.795;0.911	T	0.16364	-1.0405	10	0.87932	D	0	.	16.1181	0.81324	1.0:0.0:0.0:0.0	.	805;805;805;520;855;810;805	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	A	805;810;805;805;810;520;805;805;855	ENSP00000421684:V805A;ENSP00000309298:V810A;ENSP00000426081:V805A;ENSP00000296859:V805A;ENSP00000426910:V520A;ENSP00000311419:V805A;ENSP00000425389:V805A;ENSP00000426948:V855A	ENSP00000426948:V855A	V	-	2	0	RAPGEF6;FNIP1	130827699	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.910000	0.92685	2.205000	0.71048	0.528000	0.53228	GTC		PASS	0.383	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		3	114	3	114	---	---	---	---
PCDHGA10	56106	broad.mit.edu	37	5	140792990	140792990	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr5:140792990C>T	ENST00000398610.2	+	1	248	c.248C>T	c.(247-249)cCg>cTg	p.P83L	PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	83	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P83L(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCTGAACCCGCGCAGCGGC	0.627																																						uc003lkl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(247-249)CCG>CTG		protocadherin gamma subfamily A, 10 isoform 1							60.0	75.0	70.0					5																	140792990		2118	4261	6379	SO:0001583	missense	56106				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140792990C>T		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.248C>T	5.37:g.140792990C>T	ENSP00000381611:p.Pro83Leu					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_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.P83L	p.P83L	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	248	+			83			Cadherin 1.|Extracellular (Potential).		Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.248C>T	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	c	0.008	-1.878498	0.00537	.	.	ENSG00000253846	ENST00000398610	T	0.39592	1.07	5.89	3.87	0.44632	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.20740	0.0499	N	0.21097	0.63	0.09310	N	1	B;B	0.17038	0.012;0.02	B;B	0.15484	0.005;0.013	T	0.37009	-0.9724	9	0.02654	T	1	.	2.8743	0.05626	0.1689:0.517:0.1652:0.1489	.	83;83	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	L	83	ENSP00000381611:P83L	ENSP00000381611:P83L	P	+	2	0	PCDHGA10	140773174	0.000000	0.05858	0.116000	0.21606	0.242000	0.25591	-0.776000	0.04674	1.479000	0.48272	0.557000	0.71058	CCG		PASS	0.627	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		23	127	23	127	---	---	---	---
COL21A1	81578	broad.mit.edu	37	6	56006603	56006603	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr6:56006603G>A	ENST00000244728.5	-	12	1919	c.1522C>T	c.(1522-1524)Cca>Tca	p.P508S	COL21A1_ENST00000370819.1_Missense_Mutation_p.P505S|COL21A1_ENST00000535941.1_Missense_Mutation_p.P508S	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	508	Collagen-like 2.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.P508S(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCTCGCCCTGGTTCTCCTTTG	0.348																																						uc003pcs.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1522-1524)CCA>TCA		collagen, type XXI, alpha 1 precursor							170.0	154.0	159.0					6																	56006603		1913	4130	6043	SO:0001583	missense	81578				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:56006603G>A	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.1522C>T	6.37:g.56006603G>A	ENSP00000244728:p.Pro508Ser					COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.P508S|COL21A1_uc003pcu.1_Missense_Mutation_p.P505S	p.P508S	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		12	1754	-	Lung NSC(77;0.0483)		508			Collagen-like 1.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	c.1522C>T	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.182844	0.38511	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	D;D;D	0.98649	-5.05;-5.05;-5.05	5.15	5.15	0.70609	.	0.108247	0.40302	N	0.001133	D	0.96941	0.9001	L	0.60455	1.87	0.80722	D	1	P;P	0.52170	0.951;0.852	P;B	0.47645	0.553;0.388	D	0.95925	0.8934	10	0.21014	T	0.42	.	14.4967	0.67694	0.0:0.0:1.0:0.0	.	505;508	Q96P44-3;Q96P44	.;COLA1_HUMAN	S	508;505;508;505	ENSP00000244728:P508S;ENSP00000359855:P505S;ENSP00000444384:P508S	ENSP00000244728:P508S	P	-	1	0	COL21A1	56114562	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.751000	0.47508	2.565000	0.86533	0.655000	0.94253	CCA		PASS	0.348	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			14	96	14	96	---	---	---	---
SIM1	6492	broad.mit.edu	37	6	100841640	100841640	+	Silent	SNP	G	G	A	rs139715467	byFrequency	TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr6:100841640G>A	ENST00000369208.3	-	11	2075	c.1293C>T	c.(1291-1293)gaC>gaT	p.D431D	SIM1_ENST00000262901.4_Silent_p.D431D			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	431	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.D431D(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CGCACGATGCGTCGTGCTGGG	0.612																																						uc003pqj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(1291-1293)GAC>GAT		single-minded homolog 1							66.0	63.0	64.0					6																	100841640		2203	4300	6503	SO:0001819	synonymous_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100841640G>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1293C>T	6.37:g.100841640G>A						SIM1_uc010kcu.2_Silent_p.D431D	p.D431D	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	10	1500	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	431			Single-minded C-terminal.		Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.1293C>T	CCDS5045.1																																																																																				PASS	0.612	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		13	86	13	86	---	---	---	---
TBC1D32	221322	broad.mit.edu	37	6	121482134	121482134	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr6:121482134C>A	ENST00000398212.2	-	23	2688	c.2639G>T	c.(2638-2640)gGg>gTg	p.G880V	TBC1D32_ENST00000275159.6_Missense_Mutation_p.G921V|TBC1D32_ENST00000398197.2_5'UTR	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	880					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)	p.G880V(1)									TTCCAATGGCCCACCAACAAG	0.388																																						uc003pyo.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(2638-2640)GGG>GTG		hypothetical protein LOC221322							125.0	116.0	119.0					6																	121482134		1846	4102	5948	SO:0001583	missense	221322				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	g.chr6:121482134C>A	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2639G>T	6.37:g.121482134C>A	ENSP00000381270:p.Gly880Val					C6orf170_uc003pyq.1_RNA|C6orf170_uc010kej.1_5'UTR|C6orf170_uc003pyp.1_Missense_Mutation_p.G440V	p.G880V	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	23	2707	-			880					Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.2639G>T	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535693	0.64972	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.32023	1.47;1.47	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.49864	0.1582	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.57849	-0.7740	10	0.87932	D	0	.	17.5424	0.87852	0.0:1.0:0.0:0.0	.	921;880	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	V	921;880	ENSP00000275159:G921V;ENSP00000381270:G880V	ENSP00000275159:G921V	G	-	2	0	C6orf170	121523833	1.000000	0.71417	0.993000	0.49108	0.679000	0.39708	5.989000	0.70587	2.140000	0.66376	0.585000	0.79938	GGG		PASS	0.388	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		18	88	18	88	---	---	---	---
PTPRK	5796	broad.mit.edu	37	6	128411045	128411045	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr6:128411045G>A	ENST00000368215.3	-	8	1254	c.1255C>T	c.(1255-1257)Cgt>Tgt	p.R419C	PTPRK_ENST00000368226.4_Missense_Mutation_p.R419C|PTPRK_ENST00000368207.3_Missense_Mutation_p.R419C|PTPRK_ENST00000368210.3_Missense_Mutation_p.R419C|PTPRK_ENST00000368213.5_Missense_Mutation_p.R419C|PTPRK_ENST00000368227.3_Missense_Mutation_p.R419C|PTPRK_ENST00000532331.1_Missense_Mutation_p.R419C|PTPRK_ENST00000524481.1_5'UTR			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	419	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R419C(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GTGTGGCAACGCGTAATGTTG	0.463																																						uc003qbk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8						c.(1255-1257)CGT>TGT		protein tyrosine phosphatase, receptor type, K							167.0	139.0	148.0					6																	128411045		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128411045G>A	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1255C>T	6.37:g.128411045G>A	ENSP00000357198:p.Arg419Cys					PTPRK_uc003qbj.2_Missense_Mutation_p.R419C|PTPRK_uc010kfc.2_Missense_Mutation_p.R419C|PTPRK_uc011ebu.1_Missense_Mutation_p.R419C|PTPRK_uc003qbl.1_Missense_Mutation_p.R289C|PTPRK_uc011ebv.1_Missense_Mutation_p.R419C	p.R419C	NM_002844	NP_002835	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	8	1622	-			419			Extracellular (Potential).|Fibronectin type-III 2.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.1255C>T		.	.	.	.	.	.	.	.	.	.	G	31	5.059567	0.93846	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57	5.86	5.86	0.93980	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68860	0.3047	M	0.67700	2.07	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.983;1.0;1.0;0.986;0.983;0.993	T	0.70059	-0.4976	10	0.87932	D	0	.	20.1739	0.98173	0.0:0.0:1.0:0.0	.	419;419;419;276;419;419	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	C	419;419;419;419;419;419;419;276	ENSP00000357209:R419C;ENSP00000357210:R419C;ENSP00000432973:R419C;ENSP00000357196:R419C;ENSP00000357193:R419C;ENSP00000357198:R419C;ENSP00000357190:R419C	ENSP00000357190:R419C	R	-	1	0	PTPRK	128452738	1.000000	0.71417	0.977000	0.42913	0.891000	0.51852	9.869000	0.99810	2.774000	0.95407	0.585000	0.79938	CGT		PASS	0.463	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			14	99	14	99	---	---	---	---
IGF2R	3482	broad.mit.edu	37	6	160453653	160453653	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr6:160453653G>C	ENST00000356956.1	+	8	1101	c.953G>C	c.(952-954)tGc>tCc	p.C318S		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	318					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.C318S(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	GAGTATGCCTGCCACAGAGAT	0.478																																						uc003qta.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(952-954)TGC>TCC		insulin-like growth factor 2 receptor precursor							94.0	89.0	91.0					6																	160453653		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160453653G>C	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.953G>C	6.37:g.160453653G>C	ENSP00000349437:p.Cys318Ser						p.C318S	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	8	1101	+		Breast(66;0.000777)|Ovarian(120;0.0305)	318			2.|Lumenal (Potential).		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.953G>C	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671083	0.88348	.	.	ENSG00000197081	ENST00000356956	D	0.91631	-2.88	5.09	5.09	0.68999	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	D	0.96984	0.9015	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97575	1.0107	10	0.72032	D	0.01	-2.0786	18.8874	0.92385	0.0:0.0:1.0:0.0	.	318	P11717	MPRI_HUMAN	S	318	ENSP00000349437:C318S	ENSP00000349437:C318S	C	+	2	0	IGF2R	160373643	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.420000	0.97426	2.537000	0.85549	0.655000	0.94253	TGC		PASS	0.478	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		24	79	24	79	---	---	---	---
CHST12	55501	broad.mit.edu	37	7	2472891	2472891	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr7:2472891A>G	ENST00000258711.6	+	2	752	c.617A>G	c.(616-618)cAc>cGc	p.H206R		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	206					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)	p.H206R(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CCGCGCGAGCACGTGCACAAC	0.652																																						uc003smc.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(616-618)CAC>CGC		carbohydrate sulfotransferase 12							48.0	38.0	42.0					7																	2472891		2203	4296	6499	SO:0001583	missense	55501				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	g.chr7:2472891A>G	AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.617A>G	7.37:g.2472891A>G	ENSP00000258711:p.His206Arg					CHST12_uc003smd.2_Missense_Mutation_p.H206R	p.H206R	NM_018641	NP_061111	Q9NRB3	CHSTC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)	2	752	+		Ovarian(82;0.0253)	206			Lumenal (Potential).		A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	ENST00000258711.6	37	c.617A>G	CCDS5333.1	.	.	.	.	.	.	.	.	.	.	A	3.302	-0.142755	0.06669	.	.	ENSG00000136213	ENST00000258711;ENST00000432336	T;T	0.73047	-0.71;-0.71	5.23	1.32	0.21799	.	0.870819	0.10079	N	0.718713	T	0.58694	0.2140	L	0.46157	1.445	0.30295	N	0.790027	B	0.02656	0.0	B	0.09377	0.004	T	0.49428	-0.8941	10	0.23302	T	0.38	-14.1146	5.7844	0.18324	0.6682:0.0:0.0716:0.2602	.	206	Q9NRB3	CHSTC_HUMAN	R	206	ENSP00000258711:H206R;ENSP00000411207:H206R	ENSP00000258711:H206R	H	+	2	0	CHST12	2439417	0.968000	0.33430	0.615000	0.29064	0.748000	0.42578	3.110000	0.50352	-0.017000	0.14103	0.459000	0.35465	CAC		PASS	0.652	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	NM_018641		6	34	6	34	---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11468628	11468628	+	Silent	SNP	A	A	C			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr7:11468628A>C	ENST00000423059.4	-	14	3440	c.3189T>G	c.(3187-3189)cgT>cgG	p.R1063R	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1063	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1063R(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATGGTTTTTCACGCAGCCATT	0.488										HNSCC(18;0.044)																												uc003ssf.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(3187-3189)CGT>CGG		thrombospondin, type I, domain containing 7A							248.0	242.0	244.0					7																	11468628		2026	4176	6202	SO:0001819	synonymous_variant	221981					integral to membrane		g.chr7:11468628A>C		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3189T>G	7.37:g.11468628A>C		HNSCC(18;0.044)					p.R1063R	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	14	3441	-			1063			TSP type-1 11.|Extracellular (Potential).			Silent	SNP	ENST00000423059.4	37	c.3189T>G	CCDS47543.1																																																																																				PASS	0.488	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		54	360	54	360	---	---	---	---
AGMO	392636	broad.mit.edu	37	7	15458232	15458232	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr7:15458232G>A	ENST00000342526.3	-	5	729	c.560C>T	c.(559-561)gCt>gTt	p.A187V		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	187					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)	p.A187V(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						AAGATGAACAGCATATACTGA	0.313																																						uc003stb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(559-561)GCT>GTT		transmembrane protein 195							39.0	47.0	45.0					7																	15458232		2200	4293	6493	SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15458232G>A		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.560C>T	7.37:g.15458232G>A	ENSP00000341662:p.Ala187Val						p.A187V	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			5	730	-			187					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.560C>T	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795386	0.50208	.	.	ENSG00000187546	ENST00000342526	D	0.83992	-1.79	5.65	5.65	0.86999	Fatty acid hydroxylase (1);	0.000000	0.85682	D	0.000000	T	0.80544	0.4643	L	0.33189	0.99	0.58432	D	0.999998	B	0.29766	0.256	B	0.41135	0.348	T	0.73506	-0.3961	10	0.08599	T	0.76	-30.6545	19.7116	0.96098	0.0:0.0:1.0:0.0	.	187	Q6ZNB7	ALKMO_HUMAN	V	187	ENSP00000341662:A187V	ENSP00000341662:A187V	A	-	2	0	AGMO	15424757	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.966000	0.93397	2.660000	0.90430	0.591000	0.81541	GCT		PASS	0.313	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		11	84	11	84	---	---	---	---
PDE1C	5137	broad.mit.edu	37	7	31864552	31864552	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr7:31864552C>A	ENST00000396191.1	-	13	1790	c.1335G>T	c.(1333-1335)atG>atT	p.M445I	PDE1C_ENST00000396184.3_Missense_Mutation_p.M445I|PDE1C_ENST00000396182.2_Missense_Mutation_p.M445I|PDE1C_ENST00000321453.7_Missense_Mutation_p.M445I|PDE1C_ENST00000396193.1_Missense_Mutation_p.M505I	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	445	Catalytic. {ECO:0000250}.				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.M445I(2)|p.M505I(1)		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)	TCTTCTCGGTCATGTCCGTAA	0.493																																						uc003tcm.1																			3	Substitution - Missense(3)		lung(3)	skin(3)|central_nervous_system(1)	4						c.(1333-1335)ATG>ATT		phosphodiesterase 1C							179.0	153.0	162.0					7																	31864552		2203	4300	6503	SO:0001583	missense	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.chr7:31864552C>A	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.1335G>T	7.37:g.31864552C>A	ENSP00000379494:p.Met445Ile					PDE1C_uc003tcn.1_Missense_Mutation_p.M445I|PDE1C_uc003tco.1_Missense_Mutation_p.M505I|PDE1C_uc003tcr.2_Missense_Mutation_p.M445I|PDE1C_uc003tcs.2_Missense_Mutation_p.M445I	p.M445I	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		13	1804	-			445			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.1335G>T	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781295	0.70222	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88	5.82	5.82	0.92795	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.78381	0.4274	N	0.22421	0.69	0.80722	D	1	B;P;D	0.58620	0.393;0.774;0.983	B;P;D	0.63033	0.312;0.593;0.91	T	0.79029	-0.1970	10	0.51188	T	0.08	.	19.6844	0.95976	0.0:1.0:0.0:0.0	.	445;505;445	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	I	505;445;445;445;445	ENSP00000379496:M505I;ENSP00000379494:M445I;ENSP00000318105:M445I;ENSP00000379487:M445I;ENSP00000379485:M445I	ENSP00000318105:M445I	M	-	3	0	PDE1C	31831077	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	5.463000	0.66712	2.761000	0.94854	0.655000	0.94253	ATG		PASS	0.493	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			22	183	22	183	---	---	---	---
ASL	435	broad.mit.edu	37	7	65557066	65557066	+	Missense_Mutation	SNP	G	G	T	rs200853731		TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr7:65557066G>T	ENST00000304874.9	+	15	1238	c.1136G>T	c.(1135-1137)cGc>cTc	p.R379L	ASL_ENST00000395331.3_Missense_Mutation_p.R359L|ASL_ENST00000395332.3_Missense_Mutation_p.R379L|ASL_ENST00000464970.1_3'UTR|AC068533.7_ENST00000450043.1_Silent_p.P147P|ASL_ENST00000380839.4_Missense_Mutation_p.R353L	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	379			R -> C (in ARGINSA; dbSNP:rs28940287). {ECO:0000269|PubMed:12408190}.		arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)	p.R379L(1)		breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	TACCTGGTCCGCAAAGGGGTA	0.637																																						uc003tuo.2																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(1135-1137)CGC>CTC		argininosuccinate lyase isoform 1	L-Arginine(DB00125)						95.0	92.0	93.0					7																	65557066		2203	4300	6503	SO:0001583	missense	435				arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	g.chr7:65557066G>T		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.1136G>T	7.37:g.65557066G>T	ENSP00000307188:p.Arg379Leu					ASL_uc003tup.2_Missense_Mutation_p.R379L|ASL_uc003tur.2_Missense_Mutation_p.R353L|ASL_uc003tuq.2_Missense_Mutation_p.R359L	p.R379L	NM_000048	NP_000039	P04424	ARLY_HUMAN			15	1247	+			379					E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	ENST00000304874.9	37	c.1136G>T	CCDS5531.1	.	.	.	.	.	.	.	.	.	.	g	25.0	4.596336	0.86953	.	.	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000395331	D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84	5.5	4.63	0.57726	L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.95421	0.8513	M	0.87758	2.905	0.80722	D	1	D;B;D	0.69078	0.997;0.218;0.985	D;B;P	0.73380	0.98;0.087;0.879	D	0.95729	0.8773	10	0.66056	D	0.02	.	13.5557	0.61757	0.0753:0.0:0.9247:0.0	.	353;359;379	E9PE48;E7EMI0;P04424	.;.;ARLY_HUMAN	L	379;353;379;359	ENSP00000307188:R379L;ENSP00000370219:R353L;ENSP00000378741:R379L;ENSP00000378740:R359L	ENSP00000307188:R379L	R	+	2	0	ASL	65194501	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.997000	0.63921	1.327000	0.45338	0.491000	0.48974	CGC		PASS	0.637	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048		44	169	44	169	---	---	---	---
POM121	9883	broad.mit.edu	37	7	72413896	72413896	+	Missense_Mutation	SNP	A	A	G	rs201049716		TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr7:72413896A>G	ENST00000434423.2	+	11	3364	c.3364A>G	c.(3364-3366)Acc>Gcc	p.T1122A	POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000257622.4_Missense_Mutation_p.T857A|POM121_ENST00000395270.1_Missense_Mutation_p.T857A			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1122	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.T857A(8)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGGCTCCAGCACCACCACCGG	0.637																																						uc003twk.2																			8	Substitution - Missense(8)		lung(4)|kidney(4)		0						c.(3364-3366)ACC>GCC		nuclear pore membrane protein 121							32.0	30.0	30.0					7																	72413896		2201	4299	6500	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413896A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3364A>G	7.37:g.72413896A>G	ENSP00000405562:p.Thr1122Ala					POM121_uc003twj.2_Missense_Mutation_p.T857A|POM121_uc010lam.1_Missense_Mutation_p.T857A	p.T1122A	NM_172020	NP_742017	Q96HA1	P121A_HUMAN			11	3364	+		Lung NSC(55;0.163)	1122			Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.3364A>G		56	0.02564102564102564	11	0.022357723577235773	14	0.03867403314917127	19	0.033216783216783216	12	0.0158311345646438	G	2.480	-0.319876	0.05386	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.05649	3.46;3.41;3.46;3.41;3.71	2.86	-2.18	0.07037	.	0.720175	0.11383	N	0.569582	T	0.00724	0.0024	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.42275	-0.9461	10	0.36615	T	0.2	.	4.8571	0.13564	0.1842:0.0:0.3666:0.4491	.	857;1122	A8MXF9;Q96HA1	.;P121A_HUMAN	A	857;857;857;857;1122	ENSP00000393020:T857A;ENSP00000257622:T857A;ENSP00000378687:T857A;ENSP00000351124:T857A;ENSP00000405562:T1122A	ENSP00000257622:T857A	T	+	1	0	POM121	72051832	0.360000	0.24964	0.406000	0.26421	0.004000	0.04260	0.000000	0.12993	-0.499000	0.06623	-2.511000	0.00188	ACC		PASS	0.637	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			4	13	4	13	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91630612	91630612	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr7:91630612G>C	ENST00000359028.2	+	9	1642	c.1417G>C	c.(1417-1419)Gag>Cag	p.E473Q	AKAP9_ENST00000358100.2_Missense_Mutation_p.E473Q|AKAP9_ENST00000356239.3_Missense_Mutation_p.E461Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	473	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.E473Q(1)|p.E461Q(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGCACAGATGGAGGAAATGAA	0.378			T	BRAF	papillary thyroid																																	uc003ulg.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		2	Substitution - Missense(2)		lung(2)	breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(1381-1383)GAG>CAG		A-kinase anchor protein 9 isoform 2							95.0	102.0	100.0					7																	91630612		2201	4300	6501	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91630612G>C	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.1417G>C	7.37:g.91630612G>C	ENSP00000351922:p.Glu473Gln					AKAP9_uc003ule.2_Missense_Mutation_p.E473Q|AKAP9_uc003ulf.2_Missense_Mutation_p.E461Q|AKAP9_uc003uli.2_Missense_Mutation_p.E86Q	p.E461Q	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		8	1606	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		473			Glu-rich.|Potential.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.1381G>C		.	.	.	.	.	.	.	.	.	.	G	2.222	-0.378060	0.05000	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.03951	3.77;3.76;3.75	5.76	4.86	0.63082	.	0.546425	0.15323	N	0.268447	T	0.12732	0.0309	L	0.36672	1.1	0.46149	D	0.99889	B;B;P;D	0.60160	0.086;0.139;0.604;0.987	B;B;B;P	0.58660	0.04;0.086;0.183;0.843	T	0.03545	-1.1026	10	0.62326	D	0.03	.	16.9241	0.86170	0.0:0.128:0.872:0.0	.	473;461;461;473	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	Q	461;473;473;473;473	ENSP00000348573:E461Q;ENSP00000351922:E473Q;ENSP00000350813:E473Q	ENSP00000348573:E461Q	E	+	1	0	AKAP9	91468548	1.000000	0.71417	0.986000	0.45419	0.055000	0.15305	3.598000	0.54038	1.513000	0.48852	0.650000	0.86243	GAG		PASS	0.378	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		36	159	36	159	---	---	---	---
COL1A2	1278	broad.mit.edu	37	7	94039566	94039566	+	Missense_Mutation	SNP	C	C	A	rs201463779		TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr7:94039566C>A	ENST00000297268.6	+	20	1519	c.1048C>A	c.(1048-1050)Cca>Aca	p.P350T		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	350					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.P350T(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGAGCCTGGTCCAGCTGGCTC	0.418										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	1	Substitution - Missense(1)		lung(1)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(1048-1050)CCA>ACA		alpha 2 type I collagen precursor	Collagenase(DB00048)						60.0	58.0	59.0					7																	94039566		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94039566C>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1048C>A	7.37:g.94039566C>A	ENSP00000297268:p.Pro350Thr	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.P350T	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		20	1519	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		350					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.1048C>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726360	0.30593	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.93189	-3.18	5.84	5.84	0.93424	.	0.249652	0.40554	N	0.001063	D	0.92221	0.7533	L	0.50333	1.59	0.41210	D	0.986432	P	0.40553	0.721	P	0.45474	0.482	D	0.89451	0.3730	10	0.18710	T	0.47	.	15.949	0.79817	0.0:0.8659:0.1341:0.0	.	350	P08123	CO1A2_HUMAN	T	350;351	ENSP00000297268:P350T	ENSP00000297268:P350T	P	+	1	0	COL1A2	93877502	0.678000	0.27586	0.997000	0.53966	0.958000	0.62258	1.032000	0.30178	2.937000	0.99478	0.650000	0.86243	CCA		PASS	0.418	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		12	85	12	85	---	---	---	---
SLC13A1	6561	broad.mit.edu	37	7	122774500	122774500	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr7:122774500G>T	ENST00000194130.2	-	8	935	c.896C>A	c.(895-897)tCc>tAc	p.S299Y	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	299					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.S299Y(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CCAGATCCAGGATAAGAGTAG	0.413																																						uc003vkm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(895-897)TCC>TAC		solute carrier family 13 (sodium/sulfate	Succinic acid(DB00139)						139.0	115.0	123.0					7																	122774500		2203	4300	6503	SO:0001583	missense	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122774500G>T		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.896C>A	7.37:g.122774500G>T	ENSP00000194130:p.Ser299Tyr					SLC13A1_uc010lks.2_Missense_Mutation_p.S175Y	p.S299Y	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN			8	921	-			299			Helical; (Potential).		Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	c.896C>A	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657900	0.67586	.	.	ENSG00000081800	ENST00000194130	T	0.02837	4.14	6.04	4.17	0.49024	.	0.157713	0.64402	D	0.000019	T	0.16685	0.0401	M	0.89095	3.005	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.69307	0.963;0.963	T	0.09250	-1.0683	10	0.29301	T	0.29	-3.7703	14.9859	0.71348	0.0:0.2689:0.7311:0.0	.	299;299	A4D0X1;Q9BZW2	.;S13A1_HUMAN	Y	299	ENSP00000194130:S299Y	ENSP00000194130:S299Y	S	-	2	0	SLC13A1	122561736	1.000000	0.71417	0.869000	0.34112	0.871000	0.50021	4.544000	0.60691	1.546000	0.49388	0.563000	0.77884	TCC		PASS	0.413	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		8	76	8	76	---	---	---	---
OPN1SW	611	broad.mit.edu	37	7	128413743	128413743	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr7:128413743C>T	ENST00000249389.2	-	4	886	c.887G>A	c.(886-888)tGc>tAc	p.C296Y		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	296					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)	p.C296Y(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						ATTGTAGATGCAAGCACTCTT	0.473																																						uc003vnt.3																			1	Substitution - Missense(1)		lung(1)		0						c.(886-888)TGC>TAC		opsin 1 (cone pigments), short-wave-sensitive							128.0	102.0	111.0					7																	128413743		2203	4300	6503	SO:0001583	missense	611				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr7:128413743C>T	U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"""GPCR / Class A : Opsin receptors"""	1012	protein-coding gene	gene with protein product	"""color blindness, tritan"", ""blue-sensitive opsin"""	613522	"""blue cone photoreceptor pigment"""	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.887G>A	7.37:g.128413743C>T	ENSP00000249389:p.Cys296Tyr						p.C296Y	NM_001708	NP_001699	P03999	OPSB_HUMAN			4	887	-			296			Helical; Name=7; (Potential).		Q13877	Missense_Mutation	SNP	ENST00000249389.2	37	c.887G>A	CCDS5806.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639121	0.67244	.	.	ENSG00000128617	ENST00000249389	T	0.73575	-0.76	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.87325	0.6149	M	0.90145	3.09	0.58432	D	0.999999	P	0.49783	0.928	P	0.59703	0.862	D	0.89552	0.3800	10	0.87932	D	0	.	16.357	0.83239	0.0:1.0:0.0:0.0	.	296	P03999	OPSB_HUMAN	Y	296	ENSP00000249389:C296Y	ENSP00000249389:C296Y	C	-	2	0	OPN1SW	128200979	0.000000	0.05858	0.718000	0.30602	0.931000	0.56810	1.180000	0.32005	2.732000	0.93576	0.655000	0.94253	TGC		PASS	0.473	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1	NM_001708		8	63	8	63	---	---	---	---
CHRM2	1129	broad.mit.edu	37	7	136700698	136700698	+	Silent	SNP	C	C	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr7:136700698C>A	ENST00000445907.2	+	3	1614	c.1086C>A	c.(1084-1086)gcC>gcA	p.A362A	CHRM2_ENST00000320658.5_Silent_p.A362A|CHRM2_ENST00000402486.3_Silent_p.A362A|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Silent_p.A362A|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Silent_p.A362A|CHRM2_ENST00000397608.3_Silent_p.A362A|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	362					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.A362A(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ATATTGTAGCCCGCAAGATTG	0.473																																						uc003vtf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1084-1086)GCC>GCA		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						74.0	77.0	76.0					7																	136700698		2203	4300	6503	SO:0001819	synonymous_variant	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700698C>A		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.1086C>A	7.37:g.136700698C>A						CHRM2_uc003vtg.1_Silent_p.A362A|CHRM2_uc003vtj.1_Silent_p.A362A|CHRM2_uc003vtk.1_Silent_p.A362A|CHRM2_uc003vtl.1_Silent_p.A362A|CHRM2_uc003vtm.1_Silent_p.A362A|CHRM2_uc003vti.1_Silent_p.A362A|CHRM2_uc003vto.1_Silent_p.A362A|CHRM2_uc003vtn.1_Silent_p.A362A|uc003vtp.1_Intron	p.A362A	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	1709	+			362			Cytoplasmic (By similarity).		Q4VBK6|Q9P1X9	Silent	SNP	ENST00000445907.2	37	c.1086C>A	CCDS5843.1																																																																																				PASS	0.473	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			10	99	10	99	---	---	---	---
KEL	3792	broad.mit.edu	37	7	142640001	142640001	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr7:142640001C>A	ENST00000355265.2	-	17	2376	c.1902G>T	c.(1900-1902)gaG>gaT	p.E634D		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	634					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.E634D(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CTGCAGCATTCTCTAAGAATG	0.517																																						uc003wcb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(1900-1902)GAG>GAT		Kell blood group, metallo-endopeptidase							104.0	94.0	97.0					7																	142640001		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142640001C>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1902G>T	7.37:g.142640001C>A	ENSP00000347409:p.Glu634Asp						p.E634D	NM_000420	NP_000411	P23276	KELL_HUMAN			17	2112	-	Melanoma(164;0.059)		634			Extracellular (Potential).	Zinc; catalytic (By similarity).	B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.1902G>T	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.940608	0.34283	.	.	ENSG00000197993	ENST00000355265	D	0.91945	-2.94	4.6	1.8	0.24995	Peptidase M13, neprilysin, C-terminal (2);	0.118992	0.37261	N	0.002178	D	0.94528	0.8238	M	0.86178	2.8	0.45621	D	0.998552	D	0.76494	0.999	D	0.64237	0.923	D	0.92194	0.5762	10	0.87932	D	0	-10.3722	5.8137	0.18479	0.0:0.6583:0.0:0.3417	.	634	P23276	KELL_HUMAN	D	634	ENSP00000347409:E634D	ENSP00000347409:E634D	E	-	3	2	KEL	142350123	0.994000	0.37717	0.132000	0.22025	0.016000	0.09150	0.360000	0.20250	0.181000	0.19994	0.650000	0.86243	GAG		PASS	0.517	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		34	201	34	201	---	---	---	---
SORBS3	10174	broad.mit.edu	37	8	22432219	22432219	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr8:22432219G>T	ENST00000240123.7	+	21	2377	c.1994G>T	c.(1993-1995)gGa>gTa	p.G665V	SORBS3_ENST00000428103.1_Missense_Mutation_p.G323V	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	665	Binds to SOS.|SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.G665V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		ACGTTCCCTGGAAATTACGTT	0.602											OREG0018613	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xbv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1993-1995)GGA>GTA		sorbin and SH3 domain containing 3 isoform 1							141.0	131.0	135.0					8																	22432219		2203	4300	6503	SO:0001583	missense	10174				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding	g.chr8:22432219G>T		CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.1994G>T	8.37:g.22432219G>T	ENSP00000240123:p.Gly665Val		OREG0018613	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	756	SORBS3_uc003xbw.3_Missense_Mutation_p.G323V	p.G665V	NM_005775	NP_005766	O60504	VINEX_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	21	2334	+		Prostate(55;0.0421)|Breast(100;0.102)	665			SH3 3.|Binds to SOS.		Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Missense_Mutation	SNP	ENST00000240123.7	37	c.1994G>T	CCDS6031.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	15.52|15.52|15.52	2.858295|2.858295|2.858295	0.51376|0.51376|0.51376	.|.|.	.|.|.	ENSG00000120896|ENSG00000120896|ENSG00000120896	ENST00000517962;ENST00000520207|ENST00000240123;ENST00000428103|ENST00000519127	.|T;T|.	.|0.45668|.	.|0.89;0.89|.	5.4|5.4|5.4	4.53|4.53|4.53	0.55603|0.55603|0.55603	.|Src homology-3 domain (4);|.	.|0.136830|.	.|0.33253|.	.|N|.	.|0.005103|.	.|T|T	.|0.75064|0.75064	.|0.3799|0.3799	M|M|M	0.78223|0.78223|0.78223	2.4|2.4|2.4	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D|.	.|0.89917|.	.|1.0|.	.|D|.	.|0.97110|.	.|1.0|.	.|T|T	.|0.78907|0.78907	.|-0.2019|-0.2019	.|10|6	.|0.66056|0.87932	.|D|D	.|0.02|0	-13.159|-13.159|-13.159	13.5502|13.5502|13.5502	0.61728|0.61728|0.61728	0.0769:0.0:0.9231:0.0|0.0769:0.0:0.9231:0.0|0.0769:0.0:0.9231:0.0	.|.|.	.|665|.	.|O60504|.	.|VINEX_HUMAN|.	X|V|C	177;93|665;323|42	.|ENSP00000240123:G665V;ENSP00000408476:G323V|.	.|ENSP00000240123:G665V|ENSP00000428930:W42C	E|G|W	+|+|+	1|2|3	0|0|0	SORBS3|SORBS3|SORBS3	22488164|22488164|22488164	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.297000|0.297000|0.297000	0.27493|0.27493|0.27493	9.025000|9.025000|9.025000	0.93694|0.93694|0.93694	1.412000|1.412000|1.412000	0.46977|0.46977|0.46977	-0.150000|-0.150000|-0.150000	0.13652|0.13652|0.13652	GAA|GGA|TGG		PASS	0.602	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254647.3	NM_005775		30	133	30	133	---	---	---	---
NSMAF	8439	broad.mit.edu	37	8	59515778	59515778	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr8:59515778A>G	ENST00000038176.3	-	13	1248	c.1036T>C	c.(1036-1038)Tca>Cca	p.S346P	NSMAF_ENST00000427130.2_Missense_Mutation_p.S377P|NSMAF_ENST00000519858.1_5'UTR	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	346	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)	p.S346P(1)|p.S377P(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CCTAGTTCTGAGCTGGAATAA	0.433																																						uc003xtt.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1036-1038)TCA>CCA		neutral sphingomyelinase (N-SMase) activation							147.0	143.0	144.0					8																	59515778		2203	4300	6503	SO:0001583	missense	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59515778A>G	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1036T>C	8.37:g.59515778A>G	ENSP00000038176:p.Ser346Pro					NSMAF_uc011lee.1_Missense_Mutation_p.S377P|NSMAF_uc003xtu.2_Missense_Mutation_p.S346P	p.S346P	NM_003580	NP_003571	Q92636	FAN_HUMAN			13	1250	-		all_lung(136;0.174)|Lung NSC(129;0.2)	346			BEACH.		B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	c.1036T>C	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.533472	0.45073	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.64260	-0.09;-0.09	5.93	-7.21	0.01490	BEACH domain (4);	0.803958	0.11608	N	0.547140	T	0.34542	0.0901	L	0.27944	0.81	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.16988	-1.0384	9	.	.	.	.	2.4777	0.04580	0.3687:0.3312:0.1577:0.1424	.	377;346;346	Q92636-2;A8K9G4;Q92636	.;.;FAN_HUMAN	P	346;377	ENSP00000038176:S346P;ENSP00000411012:S377P	.	S	-	1	0	NSMAF	59678332	0.000000	0.05858	0.001000	0.08648	0.906000	0.53458	-1.635000	0.02018	-0.994000	0.03463	-0.313000	0.08912	TCA		PASS	0.433	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		32	237	32	237	---	---	---	---
PREX2	80243	broad.mit.edu	37	8	69021782	69021782	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr8:69021782G>A	ENST00000288368.4	+	25	3347	c.3070G>A	c.(3070-3072)Gac>Aac	p.D1024N		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	1024					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.D1024N(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGAAACCCAAGACATCTATCA	0.458																																						uc003xxv.1																			1	Substitution - Missense(1)		lung(1)	skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(3070-3072)GAC>AAC		DEP domain containing 2 isoform a							128.0	125.0	126.0					8																	69021782		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.chr8:69021782G>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.3070G>A	8.37:g.69021782G>A	ENSP00000288368:p.Asp1024Asn					PREX2_uc011lez.1_Missense_Mutation_p.D959N	p.D1024N	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			25	3097	+			1024					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.3070G>A	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	35	5.539045	0.96474	.	.	ENSG00000046889	ENST00000288368	T	0.39997	1.05	5.72	5.72	0.89469	.	.	.	.	.	T	0.62962	0.2471	M	0.62723	1.935	0.80722	D	1	D	0.69078	0.997	D	0.68943	0.961	T	0.57985	-0.7716	9	0.38643	T	0.18	.	19.8805	0.96895	0.0:0.0:1.0:0.0	.	1024	Q70Z35	PREX2_HUMAN	N	1024	ENSP00000288368:D1024N	ENSP00000288368:D1024N	D	+	1	0	PREX2	69184336	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.230000	0.95299	2.704000	0.92352	0.655000	0.94253	GAC		PASS	0.458	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		25	178	25	178	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77764061	77764061	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr8:77764061G>A	ENST00000521891.2	+	10	5352	c.4904G>A	c.(4903-4905)gGg>gAg	p.G1635E	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G1590E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G1590E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G1609E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1590					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.G1635E(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)			GTGGCTGGTGGGCACAGCATT	0.502										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(4768-4770)GGG>GAG		zinc finger homeodomain 4							56.0	55.0	56.0					8																	77764061		1954	4139	6093	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764061G>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.4904G>A	8.37:g.77764061G>A	ENSP00000430497:p.Gly1635Glu	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.G1635E|ZFHX4_uc003yaw.1_Missense_Mutation_p.G1590E	p.G1590E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	5156	+			1590					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4769G>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844383	0.32606	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.49432	0.78;0.84;0.81;0.81	4.25	4.25	0.50352	.	0.000000	0.44902	U	0.000420	T	0.59473	0.2196	L	0.59436	1.845	0.49389	D	0.999782	D;D;D	0.63046	0.987;0.992;0.992	P;P;P	0.58391	0.693;0.747;0.838	T	0.56335	-0.7996	10	0.26408	T	0.33	.	17.1982	0.86899	0.0:0.0:1.0:0.0	.	1590;1590;1635	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	E	1635;1635;1590;1590;1609	ENSP00000430497:G1635E;ENSP00000399605:G1590E;ENSP00000050961:G1590E;ENSP00000430848:G1609E	ENSP00000050961:G1590E	G	+	2	0	ZFHX4	77926616	1.000000	0.71417	0.915000	0.36163	0.748000	0.42578	6.249000	0.72427	2.379000	0.81126	0.542000	0.68232	GGG		PASS	0.502	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		10	85	10	85	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113253983	113253983	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr8:113253983T>A	ENST00000297405.5	-	66	10678	c.10434A>T	c.(10432-10434)agA>agT	p.R3478S	CSMD3_ENST00000352409.3_Missense_Mutation_p.R3408S|CSMD3_ENST00000455883.2_Missense_Mutation_p.R3309S|CSMD3_ENST00000343508.3_Missense_Mutation_p.R3438S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3478						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R3478S(1)|p.R3438S(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						CCAGTGCAGGTCTAGGATCTT	0.353										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.(10432-10434)AGA>AGT		CUB and Sushi multiple domains 3 isoform 1							123.0	132.0	129.0					8																	113253983		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113253983T>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.10434A>T	8.37:g.113253983T>A	ENSP00000297405:p.Arg3478Ser	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.R2680S|CSMD3_uc003ynt.2_Missense_Mutation_p.R3438S|CSMD3_uc011lhx.1_Missense_Mutation_p.R3309S	p.R3478S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			66	10593	-			3478			Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10434A>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	9.367	1.069598	0.20147	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.23552	2.21;2.2;2.23;1.9;2.23	4.68	4.68	0.58851	.	0.367394	0.25964	N	0.027164	T	0.16300	0.0392	N	0.17082	0.46	0.31431	N	0.673187	B;B;P	0.47604	0.088;0.085;0.898	B;B;P	0.46718	0.046;0.026;0.525	T	0.03374	-1.1043	10	0.11485	T	0.65	.	7.4111	0.27017	0.0:0.1637:0.0:0.8363	.	3309;3478;3438	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	3438;3478;2748;3309;3408	ENSP00000345799:R3438S;ENSP00000297405:R3478S;ENSP00000341558:R2748S;ENSP00000412263:R3309S;ENSP00000343124:R3408S	ENSP00000297405:R3478S	R	-	3	2	CSMD3	113323159	1.000000	0.71417	0.995000	0.50966	0.039000	0.13416	1.197000	0.32211	2.097000	0.63578	0.482000	0.46254	AGA		PASS	0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		34	262	34	262	---	---	---	---
BAI1	575	broad.mit.edu	37	8	143603331	143603331	+	Silent	SNP	G	G	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr8:143603331G>A	ENST00000517894.1	+	21	3924	c.3030G>A	c.(3028-3030)gtG>gtA	p.V1010V	BAI1_ENST00000323289.5_Silent_p.V1010V			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1010				V -> M (in Ref. 1; BAA23647). {ECO:0000305}.	axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.M1010I(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CACAGGTGGTGTGCACGCTGG	0.692																																						uc003ywm.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8						c.(3028-3030)GTG>GTA		brain-specific angiogenesis inhibitor 1							29.0	35.0	33.0					8																	143603331		2194	4291	6485	SO:0001819	synonymous_variant	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143603331G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3030G>A	8.37:g.143603331G>A							p.V1010V	NM_001702	NP_001693	O14514	BAI1_HUMAN			20	3213	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1010			Helical; Name=3; (Potential).			Silent	SNP	ENST00000517894.1	37	c.3030G>A																																																																																					PASS	0.692	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		4	5	4	5	---	---	---	---
ZC3H3	23144	broad.mit.edu	37	8	144621338	144621338	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr8:144621338C>T	ENST00000262577.5	-	2	230	c.199G>A	c.(199-201)Ggg>Agg	p.G67R	7SK_ENST00000517300.1_RNA|RP11-661A12.5_ENST00000530600.1_RNA	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	67					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.G67R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CACGAAGGCCCATGGTGGGAA	0.667																																						uc003yyd.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(199-201)GGG>AGG		zinc finger CCCH-type containing 3							71.0	67.0	68.0					8																	144621338		2203	4294	6497	SO:0001583	missense	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144621338C>T	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.199G>A	8.37:g.144621338C>T	ENSP00000262577:p.Gly67Arg						p.G67R	NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		2	228	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		67					Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	c.199G>A	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.915074	0.52546	.	.	ENSG00000014164	ENST00000262577	T	0.03663	3.85	4.81	4.81	0.61882	.	0.200423	0.35436	N	0.003206	T	0.11879	0.0289	M	0.67953	2.075	0.24909	N	0.992051	D	0.69078	0.997	D	0.64237	0.923	T	0.06250	-1.0837	10	0.72032	D	0.01	.	6.9821	0.24708	0.0:0.7052:0.1572:0.1375	.	67	Q8IXZ2	ZC3H3_HUMAN	R	67	ENSP00000262577:G67R	ENSP00000262577:G67R	G	-	1	0	ZC3H3	144692481	0.137000	0.22531	0.874000	0.34290	0.731000	0.41821	2.778000	0.47726	2.217000	0.71921	0.655000	0.94253	GGG		PASS	0.667	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		20	150	20	150	---	---	---	---
GLDC	2731	broad.mit.edu	37	9	6553420	6553420	+	Missense_Mutation	SNP	G	G	A	rs121964977		TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr9:6553420G>A	ENST00000321612.6	-	20	2555	c.2405C>T	c.(2404-2406)gCg>gTg	p.A802V		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	802					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)	p.A802V(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	CCATGGGGCCGCACTGACGGT	0.547																																						uc003zkc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2	GRCh37	CM042068	GLDC	M	rs121964977	c.(2404-2406)GCG>GTG		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	G	VAL/ALA	0,4406		0,0,2203	68.0	64.0	66.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2405	4.8	0.5	9	dbSNP_133	66	1,8591	1.2+/-3.3	0,1,4295	no	missense	GLDC	NM_000170.2	64	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	802/1021	6553420	1,12997	2203	4296	6499	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6553420G>A	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2405C>T	9.37:g.6553420G>A	ENSP00000370737:p.Ala802Val						p.A802V	NM_000170	NP_000161	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	20	2598	-		Acute lymphoblastic leukemia(23;0.161)	802					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.2405C>T	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040062	0.75732	0.0	1.16E-4	ENSG00000178445	ENST00000321612	D	0.98028	-4.67	4.84	4.84	0.62591	Pyridoxal phosphate-dependent transferase, major domain (1);	0.051681	0.85682	D	0.000000	D	0.99036	0.9670	H	0.97564	4.03	0.80722	A	1	D	0.61697	0.99	P	0.56612	0.802	D	0.99490	1.0950	9	0.87932	D	0	-15.0657	18.3155	0.90220	0.0:0.0:1.0:0.0	.	802	P23378	GCSP_HUMAN	V	802	ENSP00000370737:A802V	ENSP00000370737:A802V	A	-	2	0	GLDC	6543420	1.000000	0.71417	0.544000	0.28141	0.087000	0.18053	9.476000	0.97823	2.406000	0.81754	0.655000	0.94253	GCG		PASS	0.547	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		25	84	25	84	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14775880	14775880	+	Silent	SNP	A	A	G			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr9:14775880A>G	ENST00000380880.3	-	25	5547	c.4764T>C	c.(4762-4764)acT>acC	p.T1588T	FREM1_ENST00000380881.4_Silent_p.T1589T|FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000422223.2_Silent_p.T1588T|FREM1_ENST00000380894.1_Silent_p.T124T			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1588					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.T1589T(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)		TAAAGCAGTCAGTCTGGGAGT	0.498																																						uc003zlm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(4762-4764)ACT>ACC		FRAS1 related extracellular matrix 1 precursor							128.0	122.0	124.0					9																	14775880		1967	4170	6137	SO:0001819	synonymous_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14775880A>G	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.4764T>C	9.37:g.14775880A>G						FREM1_uc010mic.2_Intron|FREM1_uc003zlk.2_5'Flank|FREM1_uc003zll.2_Silent_p.T124T	p.T1588T	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	25	5354	-			1588			CSPG 11.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	c.4764T>C	CCDS47952.1																																																																																				PASS	0.498	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		19	99	19	99	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971082	21971082	+	Silent	SNP	G	G	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr9:21971082G>A	ENST00000304494.5	-	2	546	c.276C>T	c.(274-276)gaC>gaT	p.D92D	CDKN2A_ENST00000530628.2_Missense_Mutation_p.H107Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Silent_p.D41D|CDKN2A_ENST00000497750.1_Silent_p.D41D|CDKN2A_ENST00000479692.2_Silent_p.D41D|CDKN2A_ENST00000498124.1_Silent_p.D92D|CDKN2A_ENST00000579122.1_Silent_p.D92D|CDKN2A_ENST00000494262.1_Silent_p.D41D|CDKN2A_ENST00000446177.1_Silent_p.D92D|CDKN2A_ENST00000361570.3_Missense_Mutation_p.H148Y|CDKN2A_ENST00000498628.2_Silent_p.D41D|CDKN2A_ENST00000579755.1_Missense_Mutation_p.H107Y	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	92					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.D92D(2)|p.H83fs*2(2)|p.0(1)|p.H148Y(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.T93fs*26(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCACCAGCGTGTCCAGGAAGC	0.746		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1369	Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(5)|Substitution - coding silent(2)|Deletion - In frame(1)|Substitution - Missense(1)	p.0?(1112)|p.?(13)|p.D92fs*54(2)|p.H83fs*2(2)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.T93fs*26(1)|p.D92N(1)	haematopoietic_and_lymphoid_tissue(283)|skin(174)|central_nervous_system(167)|lung(148)|urinary_tract(92)|bone(74)|soft_tissue(57)|oesophagus(52)|pleura(51)|upper_aerodigestive_tract(50)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678						c.(274-276)GAC>GAT		cyclin-dependent kinase inhibitor 2A isoform 1							14.0	17.0	16.0					9																	21971082		2177	4252	6429	SO:0001819	synonymous_variant	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971082G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.276C>T	9.37:g.21971082G>A		HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.H148Y	p.D92D	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	488	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	92			ANK 3.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Silent	SNP	ENST00000304494.5	37	c.276C>T	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143034	0.77888	.	.	ENSG00000147889	ENST00000361570;ENST00000530628	D;D	0.83335	-1.71;-1.62	5.93	5.02	0.67125	.	0.195640	0.25408	N	0.030895	D	0.89626	0.6769	.	.	.	0.39480	D	0.96787	D	0.76494	0.999	P	0.59115	0.852	D	0.91576	0.5275	9	0.87932	D	0	-18.6892	15.8369	0.78805	0.0:0.1365:0.8635:0.0	.	148	Q8N726	CD2A2_HUMAN	Y	148;107	ENSP00000355153:H148Y;ENSP00000432664:H107Y	ENSP00000355153:H148Y	H	-	1	0	CDKN2A	21961082	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.205000	0.32308	1.450000	0.47717	0.655000	0.94253	CAC		PASS	0.746	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		8	8	8	8	---	---	---	---
FRMPD1	22844	broad.mit.edu	37	9	37746626	37746626	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr9:37746626C>G	ENST00000539465.1	+	16	5190	c.4597C>G	c.(4597-4599)Cag>Gag	p.Q1533E	FRMPD1_ENST00000377765.3_Missense_Mutation_p.Q1533E|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1533						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.Q1533E(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CACCTACCATCAGTTTATAGA	0.617																																						uc004aag.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(4597-4599)CAG>GAG		FERM and PDZ domain containing 1							107.0	108.0	108.0					9																	37746626		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37746626C>G	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.4597C>G	9.37:g.37746626C>G	ENSP00000444411:p.Gln1533Glu					FRMPD1_uc004aah.1_Missense_Mutation_p.Q1533E	p.Q1533E	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	4641	+			1533					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.4597C>G	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870623	0.72065	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.07216	3.21;3.21	5.71	5.71	0.89125	.	0.115441	0.64402	D	0.000010	T	0.16041	0.0386	L	0.43152	1.355	0.80722	D	1	P	0.51351	0.944	P	0.52109	0.69	T	0.00361	-1.1789	10	0.37606	T	0.19	-17.2627	17.3577	0.87341	0.0:1.0:0.0:0.0	.	1533	Q5SYB0	FRPD1_HUMAN	E	1533	ENSP00000366995:Q1533E;ENSP00000444411:Q1533E	ENSP00000366995:Q1533E	Q	+	1	0	FRMPD1	37736626	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	3.381000	0.52455	2.704000	0.92352	0.655000	0.94253	CAG		PASS	0.617	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		38	135	38	135	---	---	---	---
ZNF658	26149	broad.mit.edu	37	9	40772779	40772779	+	Silent	SNP	C	C	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr9:40772779C>T	ENST00000602553.1	-	5	2790	c.2496G>A	c.(2494-2496)ggG>ggA	p.G832G	ZNF658_ENST00000377626.3_Silent_p.G832G|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	832					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.G832G(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AGAAAGTTTTCCCACATTGGT	0.408																																						uc004abs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2494-2496)GGG>GGA		zinc finger protein 658							70.0	67.0	68.0					9																	40772779		2201	4295	6496	SO:0001819	synonymous_variant	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40772779C>T	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.2496G>A	9.37:g.40772779C>T						ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Silent_p.G832G	p.G832G	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	2648	-			832			C2H2-type 17.		Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Silent	SNP	ENST00000602553.1	37	c.2496G>A	CCDS35023.1																																																																																				PASS	0.408	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		40	172	40	172	---	---	---	---
AGTPBP1	23287	broad.mit.edu	37	9	88272541	88272541	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr9:88272541C>T	ENST00000357081.3	-	10	862	c.718G>A	c.(718-720)Gct>Act	p.A240T	AGTPBP1_ENST00000376081.4_Intron|AGTPBP1_ENST00000376080.1_Missense_Mutation_p.S169N|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.A292T|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.A240T|AGTPBP1_ENST00000337006.4_Missense_Mutation_p.S169N|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.A78T			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	240					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.A240T(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CTGTCTACAGCTCTCCTGGCA	0.343																																						uc011ltd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|skin(1)	7						c.(718-720)GCT>ACT		ATP/GTP binding protein 1							60.0	53.0	55.0					9																	88272541		2203	4300	6503	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88272541C>T	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.718G>A	9.37:g.88272541C>T	ENSP00000349592:p.Ala240Thr					AGTPBP1_uc011ltc.1_Missense_Mutation_p.A138T|AGTPBP1_uc010mqc.2_Missense_Mutation_p.A240T|AGTPBP1_uc011lte.1_Missense_Mutation_p.A292T	p.A240T	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN			9	751	-			240					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.718G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.392907|5.392907	0.96009|0.96009	.|.	.|.	ENSG00000135049|ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109;ENST00000432218|ENST00000337006;ENST00000376080	T;T;T;T|.	0.50001|.	0.9;0.9;0.9;0.76|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68072|0.68072	0.2961|0.2961	M|M	0.66297|0.66297	2.02|2.02	0.40190|0.40190	D|D	0.977393|0.977393	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.998;0.998;0.999;0.993|.	T|T	0.63712|0.63712	-0.6575|-0.6575	10|6	0.72032|0.02654	D|T	0.01|1	-22.5657|-22.5657	19.502|19.502	0.95098|0.95098	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	292;240;78;240|.	Q9UPW5-3;Q9UPW5;B4DHX2;Q9UPW5-2|.	.;CBPC1_HUMAN;.;.|.	T|N	240;240;292;78|169	ENSP00000349592:A240T;ENSP00000365251:A240T;ENSP00000365277:A292T;ENSP00000402804:A78T|.	ENSP00000349592:A240T|ENSP00000338512:S169N	A|S	-|-	1|2	0|0	AGTPBP1|AGTPBP1	87462361|87462361	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.574000|7.574000	0.82434|0.82434	2.600000|2.600000	0.87896|0.87896	0.650000|0.650000	0.86243|0.86243	GCT|AGC		PASS	0.343	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		3	91	3	91	---	---	---	---
PKN3	29941	broad.mit.edu	37	9	131476641	131476641	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr9:131476641C>T	ENST00000291906.4	+	11	1871	c.1478C>T	c.(1477-1479)cCc>cTc	p.P493L		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	493	Pro-rich.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)	p.P493L(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						CCTGCCACTCCCAGGTGAGGA	0.622																																						uc004bvw.2																			1	Substitution - Missense(1)		lung(1)	stomach(2)|lung(2)	4						c.(1477-1479)CCC>CTC		protein kinase PKNbeta							44.0	50.0	48.0					9																	131476641		2203	4300	6503	SO:0001583	missense	29941				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	g.chr9:131476641C>T	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.1478C>T	9.37:g.131476641C>T	ENSP00000291906:p.Pro493Leu					PKN3_uc010myh.2_Missense_Mutation_p.P493L|PKN3_uc011mbk.1_Missense_Mutation_p.P43L	p.P493L	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN			11	1871	+			493			Pro-rich.		Q9UM03	Missense_Mutation	SNP	ENST00000291906.4	37	c.1478C>T	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268752	0.40095	.	.	ENSG00000160447	ENST00000291906	T	0.28895	1.59	5.15	5.15	0.70609	.	.	.	.	.	T	0.30603	0.0770	L	0.47716	1.5	0.53688	D	0.999978	D	0.53619	0.961	P	0.44597	0.454	T	0.02721	-1.1119	9	0.29301	T	0.29	.	14.135	0.65281	0.0:1.0:0.0:0.0	.	493	Q6P5Z2	PKN3_HUMAN	L	493	ENSP00000291906:P493L	ENSP00000291906:P493L	P	+	2	0	PKN3	130516462	0.998000	0.40836	0.997000	0.53966	0.218000	0.24690	3.421000	0.52742	2.401000	0.81631	0.563000	0.77884	CCC		PASS	0.622	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		16	58	16	58	---	---	---	---
ASAH2	56624	broad.mit.edu	37	10	52008284	52008284	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr10:52008284G>T	ENST00000395526.4	-	1	86	c.87C>A	c.(85-87)agC>agA	p.S29R	ASAH2_ENST00000329428.6_Missense_Mutation_p.S10R|ASAH2_ENST00000447815.1_Missense_Mutation_p.S29R	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	29					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ceramidase activity (GO:0017040)	p.S29R(1)|p.S10R(1)		large_intestine(1)|lung(9)|urinary_tract(1)	11						TAAACAAGAGGCTGAGAAGGG	0.443																																						uc001jjd.2																			2	Substitution - Missense(2)		lung(2)		0						c.(85-87)AGC>AGA		N-acylsphingosine amidohydrolase 2 isoform a							132.0	125.0	127.0					10																	52008284		2203	4300	6503	SO:0001583	missense	56624				apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity	g.chr10:52008284G>T	AF250847	CCDS7239.2, CCDS44398.1	10q11.23	2008-08-11			ENSG00000188611	ENSG00000188611			18860	protein-coding gene	gene with protein product		611202				10781606	Standard	NM_019893		Approved		uc001jjd.3	Q9NR71	OTTHUMG00000018223	ENST00000395526.4:c.87C>A	10.37:g.52008284G>T	ENSP00000378897:p.Ser29Arg					ASAH2_uc009xos.2_Missense_Mutation_p.S29R	p.S29R	NM_019893	NP_063946	Q9NR71	ASAH2_HUMAN			1	87	-			29			Helical; Signal-anchor for type II membrane protein; (Potential).		Q3KNU1|Q5SNT7|Q5SZP6|Q5SZP7|Q5T1D5|Q71ME6	Missense_Mutation	SNP	ENST00000395526.4	37	c.87C>A	CCDS7239.2	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903055	0.52227	.	.	ENSG00000188611	ENST00000395526;ENST00000447815;ENST00000329428	T;T;T	0.32988	1.45;1.43;1.43	5.94	2.68	0.31781	.	0.715779	0.14387	N	0.322751	T	0.27313	0.0670	L	0.42245	1.32	0.80722	D	1	P;P	0.45474	0.859;0.779	B;B	0.42422	0.387;0.216	T	0.05338	-1.0891	10	0.66056	D	0.02	.	8.6131	0.33815	0.2724:0.0:0.7276:0.0	.	29;29	Q9NR71-2;Q9NR71	.;ASAH2_HUMAN	R	29;29;10	ENSP00000378897:S29R;ENSP00000388206:S29R;ENSP00000329886:S10R	ENSP00000329886:S10R	S	-	3	2	ASAH2	51678290	0.827000	0.29292	1.000000	0.80357	0.997000	0.91878	-0.213000	0.09305	0.858000	0.35431	0.563000	0.77884	AGC		PASS	0.443	ASAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048061.3	NM_019893		29	93	29	93	---	---	---	---
PRKG1	5592	broad.mit.edu	37	10	53564377	53564377	+	Silent	SNP	C	C	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr10:53564377C>A	ENST00000401604.2	+	4	774	c.580C>A	c.(580-582)Cga>Aga	p.R194R	PRKG1_ENST00000373980.4_Silent_p.R209R|PRKG1_ENST00000373985.1_Silent_p.R182R			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	194	cGMP-binding, high affinity.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)	p.R194R(1)|p.R209R(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GGCCATTGATCGACAATGTTT	0.343																																						uc001jjm.2																			2	Substitution - coding silent(2)		lung(2)	lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6						c.(580-582)CGA>AGA		protein kinase, cGMP-dependent, type I isoform							114.0	107.0	109.0					10																	53564377		2203	4300	6503	SO:0001819	synonymous_variant	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:53564377C>A		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.580C>A	10.37:g.53564377C>A						PRKG1_uc001jjn.2_Silent_p.R209R|PRKG1_uc001jjo.2_Silent_p.R209R	p.R194R	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	4	774	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	194			cGMP 1.		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Silent	SNP	ENST00000401604.2	37	c.580C>A	CCDS44399.1																																																																																				PASS	0.343	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				9	74	9	74	---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	67680256	67680256	+	Silent	SNP	C	C	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr10:67680256C>A	ENST00000433211.2	-	18	2694	c.2520G>T	c.(2518-2520)ggG>ggT	p.G840G	CTNNA3_ENST00000373744.4_Silent_p.G840G|CTNNA3_ENST00000373735.1_5'UTR	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.G840G(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GGTGCCGGGGCCCAGCAGGAC	0.468																																						uc009xpn.1																			2	Substitution - coding silent(2)		lung(2)	skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(2518-2520)GGG>GGT		catenin, alpha 3							88.0	89.0	89.0					10																	67680256		2203	4300	6503	SO:0001819	synonymous_variant	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:67680256C>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.2520G>T	10.37:g.67680256C>A						CTNNA3_uc001jmw.2_Silent_p.G840G	p.G840G	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			18	2643	-			840						Silent	SNP	ENST00000433211.2	37	c.2520G>T	CCDS7269.1																																																																																				PASS	0.468	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		32	194	32	194	---	---	---	---
TET1	80312	broad.mit.edu	37	10	70332267	70332267	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr10:70332267G>T	ENST00000373644.4	+	2	381	c.172G>T	c.(172-174)Gtt>Ttt	p.V58F		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	58					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.V58F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGAAAGAGATGTTAAGAAAAA	0.423																																						uc001jok.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(172-174)GTT>TTT		CXXC finger 6							66.0	72.0	70.0					10																	70332267		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.chr10:70332267G>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.172G>T	10.37:g.70332267G>T	ENSP00000362748:p.Val58Phe						p.V58F	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			2	677	+			58					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.172G>T	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882036	0.72294	.	.	ENSG00000138336	ENST00000373644	T	0.11063	2.81	5.24	5.24	0.73138	.	0.802027	0.10566	N	0.659647	T	0.22589	0.0545	L	0.29908	0.895	0.31123	N	0.70859	D	0.64830	0.994	P	0.60789	0.879	T	0.10177	-1.0641	10	0.62326	D	0.03	.	16.9956	0.86367	0.0:0.0:1.0:0.0	.	58	Q8NFU7	TET1_HUMAN	F	58	ENSP00000362748:V58F	ENSP00000362748:V58F	V	+	1	0	TET1	70002273	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.349000	0.59385	2.444000	0.82710	0.563000	0.77884	GTT		PASS	0.423	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		7	130	7	130	---	---	---	---
GPR26	2849	broad.mit.edu	37	10	125426542	125426542	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr10:125426542G>A	ENST00000284674.1	+	1	672	c.619G>A	c.(619-621)Gac>Aac	p.D207N		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	207					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D207N(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CAAGCGCATCGACGTGATCAC	0.642																																						uc001lhh.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	skin(1)	1						c.(619-621)GAC>AAC		G protein-coupled receptor 26							26.0	19.0	21.0					10																	125426542		2203	4300	6503	SO:0001583	missense	2849				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:125426542G>A		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"""GPCR / Class A : Orphans"""	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.619G>A	10.37:g.125426542G>A	ENSP00000284674:p.Asp207Asn						p.D207N	NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN			1	672	+		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)	207			Cytoplasmic (Potential).		Q2M2E2	Missense_Mutation	SNP	ENST00000284674.1	37	c.619G>A	CCDS7636.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234914	0.79800	.	.	ENSG00000154478	ENST00000284674	T	0.71698	-0.59	4.18	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70971	0.3285	M	0.86651	2.83	0.80722	D	1	P	0.38711	0.643	B	0.27715	0.082	T	0.77443	-0.2586	10	0.41790	T	0.15	-26.6134	16.6973	0.85339	0.0:0.0:1.0:0.0	.	207	Q8NDV2	GPR26_HUMAN	N	207	ENSP00000284674:D207N	ENSP00000284674:D207N	D	+	1	0	GPR26	125416532	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.508000	0.98000	2.152000	0.67230	0.655000	0.94253	GAC		PASS	0.642	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1			3	16	3	16	---	---	---	---
TALDO1	6888	broad.mit.edu	37	11	755975	755975	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr11:755975C>A	ENST00000319006.3	+	2	347	c.194C>A	c.(193-195)gCg>gAg	p.A65E	TALDO1_ENST00000528097.1_Missense_Mutation_p.A65E			P37837	TALDO_HUMAN	transaldolase 1	65					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	monosaccharide binding (GO:0048029)|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity (GO:0004801)	p.A65E(1)		breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		GTGGAGGAGGCGATTGCCTAT	0.632																																						uc001lqz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(193-195)GCG>GAG		transaldolase 1							60.0	54.0	56.0					11																	755975		2203	4300	6503	SO:0001583	missense	6888				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity	g.chr11:755975C>A		CCDS7712.1	11p15.5-p15.4	2009-12-02			ENSG00000177156	ENSG00000177156	2.2.1.2		11559	protein-coding gene	gene with protein product		602063				9339383	Standard	NM_006755		Approved		uc001lqz.3	P37837	OTTHUMG00000133318	ENST00000319006.3:c.194C>A	11.37:g.755975C>A	ENSP00000321259:p.Ala65Glu					TALDO1_uc010qwl.1_Missense_Mutation_p.A65E|TALDO1_uc001lra.2_Missense_Mutation_p.A65E	p.A65E	NM_006755	NP_006746	P37837	TALDO_HUMAN		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)	2	244	+		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	65					B2R8M2|O00751|Q8WV32|Q8WZ45	Missense_Mutation	SNP	ENST00000319006.3	37	c.194C>A	CCDS7712.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896692	0.52121	.	.	ENSG00000177156	ENST00000319006;ENST00000528097	D;D	0.86497	-2.13;-2.13	4.39	2.35	0.29111	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.93442	0.7908	M	0.90922	3.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92867	0.6311	10	0.87932	D	0	-3.7622	8.7051	0.34349	0.1484:0.7641:0.0:0.0875	.	65;65	F2Z393;P37837	.;TALDO_HUMAN	E	65	ENSP00000321259:A65E;ENSP00000437098:A65E	ENSP00000321259:A65E	A	+	2	0	TALDO1	745975	1.000000	0.71417	0.781000	0.31783	0.090000	0.18270	5.529000	0.67135	0.975000	0.38392	0.313000	0.20887	GCG		PASS	0.632	TALDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257116.1	NM_006755		3	57	3	57	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1268600	1268600	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr11:1268600C>G	ENST00000529681.1	+	31	10548	c.10490C>G	c.(10489-10491)gCa>gGa	p.A3497G	MUC5B_ENST00000447027.1_Missense_Mutation_p.A3500G|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3497	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.A3476G(1)|p.A3497G(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)		ACCCCAGCAGCAACCACCAGT	0.662																																						uc009ycr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(12073-12075)GCA>GGA		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							93.0	113.0	106.0					11																	1268600		2097	4202	6299	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268600C>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10490C>G	11.37:g.1268600C>G	ENSP00000436812:p.Ala3497Gly					MUC5B_uc001ltb.2_Missense_Mutation_p.A3500G	p.A4025G	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)	50	12200	+		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)	3497	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.12074C>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	1.847	-0.466063	0.04476	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.23950	1.98;1.88	2.14	-4.27	0.03744	.	.	.	.	.	T	0.05502	0.0145	N	0.00308	-1.67	0.09310	N	1	B;B	0.24823	0.112;0.0	B;B	0.25884	0.064;0.0	T	0.35450	-0.9788	9	0.87932	D	0	.	3.5205	0.07740	0.1111:0.2937:0.4095:0.1857	.	4025;3500	A7Y9J9;E9PBJ0	.;.	G	3497;3500;3469;3402	ENSP00000436812:A3497G;ENSP00000415793:A3500G	ENSP00000343037:A3469G	A	+	2	0	MUC5B	1225176	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.371000	0.20450	-1.180000	0.02734	-1.315000	0.01301	GCA		PASS	0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		20	69	20	69	---	---	---	---
OR52N5	390075	broad.mit.edu	37	11	5799147	5799147	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr11:5799147A>T	ENST00000317093.2	-	1	750	c.718T>A	c.(718-720)Tca>Aca	p.S240T	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S240T(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CGAGCATCTGATGAAGAGAGG	0.453																																						uc010qzn.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(718-720)TCA>ACA		olfactory receptor, family 52, subfamily N,							114.0	109.0	110.0					11																	5799147		2116	4090	6206	SO:0001583	missense	390075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5799147A>T	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.718T>A	11.37:g.5799147A>T	ENSP00000322866:p.Ser240Thr					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.S240T	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	718	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	240			Cytoplasmic (Potential).		B9EH12|Q6IFG2	Missense_Mutation	SNP	ENST00000317093.2	37	c.718T>A	CCDS31397.1	.	.	.	.	.	.	.	.	.	.	A	3.573	-0.087291	0.07097	.	.	ENSG00000181009	ENST00000317093	T	0.00091	8.74	3.68	0.347	0.16022	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.04768	-0.165	0.09310	N	0.999996	B	0.02656	0.0	B	0.11329	0.006	T	0.01143	-1.1438	9	0.29301	T	0.29	.	5.3819	0.16196	0.4199:0.4582:0.0:0.1219	.	240	Q8NH56	O52N5_HUMAN	T	240	ENSP00000322866:S240T	ENSP00000322866:S240T	S	-	1	0	OR52N5	5755723	0.000000	0.05858	0.964000	0.40570	0.438000	0.31896	-1.443000	0.02405	0.236000	0.21180	0.411000	0.27672	TCA		PASS	0.453	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		10	92	10	92	---	---	---	---
OR52N5	390075	broad.mit.edu	37	11	5799598	5799598	+	Silent	SNP	A	A	G			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr11:5799598A>G	ENST00000317093.2	-	1	299	c.267T>C	c.(265-267)aaT>aaC	p.N89N	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N89N(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TGCAGAGTGCATTGGGTAGAG	0.448																																						uc010qzn.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(265-267)AAT>AAC		olfactory receptor, family 52, subfamily N,							99.0	95.0	96.0					11																	5799598		2120	4090	6210	SO:0001819	synonymous_variant	390075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5799598A>G	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.267T>C	11.37:g.5799598A>G						TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.N89N	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	267	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	89			Extracellular (Potential).		B9EH12|Q6IFG2	Silent	SNP	ENST00000317093.2	37	c.267T>C	CCDS31397.1																																																																																				PASS	0.448	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		13	132	13	132	---	---	---	---
OR56B4	196335	broad.mit.edu	37	11	6129241	6129241	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr11:6129241G>T	ENST00000316529.3	+	1	328	c.233G>T	c.(232-234)gGc>gTc	p.G78V	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G78V(1)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGACATTGGCCTGGCCACC	0.502																																						uc010qzx.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(232-234)GGC>GTC		olfactory receptor, family 56, subfamily B,							91.0	81.0	84.0					11																	6129241		2201	4293	6494	SO:0001583	missense	196335				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6129241G>T	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"""GPCR / Class A : Olfactory receptors"""	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.233G>T	11.37:g.6129241G>T	ENSP00000321196:p.Gly78Val						p.G78V	NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	233	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	78			Helical; Name=2; (Potential).		Q6IFD7	Missense_Mutation	SNP	ENST00000316529.3	37	c.233G>T	CCDS31406.1	.	.	.	.	.	.	.	.	.	.	G	5.283	0.237557	0.10023	.	.	ENSG00000180919	ENST00000316529	T	0.19806	2.12	4.06	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35903	U	0.002919	T	0.33000	0.0848	L	0.50333	1.59	0.41608	D	0.988897	D	0.76494	0.999	D	0.85130	0.997	T	0.12477	-1.0546	10	0.02654	T	1	.	12.9292	0.58276	0.0:0.0:0.8371:0.1628	.	78	Q8NH76	O56B4_HUMAN	V	78	ENSP00000321196:G78V	ENSP00000321196:G78V	G	+	2	0	OR56B4	6085817	0.000000	0.05858	0.995000	0.50966	0.921000	0.55340	0.215000	0.17562	2.225000	0.72522	0.556000	0.70494	GGC		PASS	0.502	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384668.1	NM_001005181		7	75	7	75	---	---	---	---
NRIP3	56675	broad.mit.edu	37	11	9005642	9005642	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr11:9005642G>T	ENST00000309166.3	-	5	705	c.592C>A	c.(592-594)Cta>Ata	p.L198I	NRIP3_ENST00000531090.1_3'UTR	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	198							aspartic-type endopeptidase activity (GO:0004190)	p.L198I(1)		large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		AGAGTCTGTAGACCAAGGGAC	0.393																																						uc001mhg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(592-594)CTA>ATA		nuclear receptor interacting protein 3							162.0	161.0	161.0					11																	9005642		2201	4296	6497	SO:0001583	missense	56675				proteolysis		aspartic-type endopeptidase activity	g.chr11:9005642G>T	AJ400877	CCDS31422.1	11p15.3	2008-02-05	2003-09-03	2003-09-05	ENSG00000175352	ENSG00000175352			1167	protein-coding gene	gene with protein product		613125	"""chromosome 11 open reading frame 14"""	C11orf14		11528127	Standard	NM_020645		Approved		uc001mhg.2	Q9NQ35	OTTHUMG00000165680	ENST00000309166.3:c.592C>A	11.37:g.9005642G>T	ENSP00000310205:p.Leu198Ile					NRIP3_uc010rbu.1_3'UTR	p.L198I	NM_020645	NP_065696	Q9NQ35	NRIP3_HUMAN		Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)	5	706	-			198					Q86WD9	Missense_Mutation	SNP	ENST00000309166.3	37	c.592C>A	CCDS31422.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181184	0.78677	.	.	ENSG00000175352	ENST00000309166;ENST00000531142	T	0.60672	0.17	5.8	4.88	0.63580	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);	0.072297	0.56097	D	0.000039	T	0.61048	0.2316	M	0.73217	2.22	0.80722	D	1	P	0.48503	0.911	P	0.45610	0.487	T	0.64875	-0.6304	10	0.51188	T	0.08	.	13.2685	0.60148	0.077:0.0:0.923:0.0	.	198	Q9NQ35	NRIP3_HUMAN	I	198;26	ENSP00000310205:L198I	ENSP00000310205:L198I	L	-	1	2	NRIP3	8962218	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.990000	0.56965	2.770000	0.95276	0.579000	0.79373	CTA		PASS	0.393	NRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385774.1	NM_020645		19	203	19	203	---	---	---	---
GALNT18	374378	broad.mit.edu	37	11	11354266	11354266	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr11:11354266T>C	ENST00000227756.4	-	8	1802	c.1391A>G	c.(1390-1392)tAc>tGc	p.Y464C		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	464					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.Y464C(1)									GATGTCGGAGTACATCCTCAT	0.527																																						uc001mjo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1390-1392)TAC>TGC		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							111.0	89.0	96.0					11																	11354266		2201	4294	6495	SO:0001583	missense	374378					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr11:11354266T>C	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.1391A>G	11.37:g.11354266T>C	ENSP00000227756:p.Tyr464Cys						p.Y464C	NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN		all cancers(16;3.67e-05)|Epithelial(150;0.000184)	8	1812	-			464			Lumenal (Potential).		O95903|Q8NDY9	Missense_Mutation	SNP	ENST00000227756.4	37	c.1391A>G	CCDS7807.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.208817	0.79240	.	.	ENSG00000110328	ENST00000227756	T	0.68479	-0.33	5.54	5.54	0.83059	.	0.445292	0.21987	N	0.066211	T	0.79581	0.4470	M	0.67397	2.05	0.58432	D	0.999994	D	0.76494	0.999	D	0.80764	0.994	T	0.79009	-0.1978	10	0.41790	T	0.15	.	14.4931	0.67665	0.0:0.0:0.0:1.0	.	464	Q6P9A2	GLTL4_HUMAN	C	464	ENSP00000227756:Y464C	ENSP00000227756:Y464C	Y	-	2	0	GALNTL4	11310842	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	8.040000	0.89188	2.108000	0.64289	0.533000	0.62120	TAC		PASS	0.527	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		4	82	4	82	---	---	---	---
IGSF22	283284	broad.mit.edu	37	11	18745750	18745750	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr11:18745750C>T	ENST00000513874.1	-	2	173	c.34G>A	c.(34-36)Gag>Aag	p.E12K	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	12								p.E12K(2)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GACACGTGCTCCTGCAGCATC	0.592																																						uc009yht.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|kidney(1)	7						c.(34-36)GAG>AAG		immunoglobulin superfamily, member 22							133.0	138.0	136.0					11																	18745750		2142	4250	6392	SO:0001583	missense	283284							g.chr11:18745750C>T	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.34G>A	11.37:g.18745750C>T	ENSP00000421191:p.Glu12Lys					IGSF22_uc001mpa.2_RNA	p.E12K	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN			2	224	-			12					A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.34G>A	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	C	18.22	3.574801	0.65878	.	.	ENSG00000179057	ENST00000513874	T	0.50548	0.74	5.57	4.66	0.58398	.	0.000000	0.38663	N	0.001611	T	0.30823	0.0777	N	0.14661	0.345	0.25945	N	0.982821	P	0.37781	0.608	B	0.37047	0.24	T	0.15263	-1.0443	10	0.41790	T	0.15	.	11.5895	0.50938	0.0:0.916:0.0:0.084	.	12	D6RGV7	.	K	12	ENSP00000421191:E12K	ENSP00000322422:E12K	E	-	1	0	IGSF22	18702326	0.996000	0.38824	0.867000	0.34043	0.979000	0.70002	0.664000	0.25068	1.346000	0.45694	0.561000	0.74099	GAG		PASS	0.592	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		13	214	13	214	---	---	---	---
ALX4	60529	broad.mit.edu	37	11	44286713	44286713	+	Silent	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr11:44286713G>T	ENST00000329255.3	-	4	1030	c.927C>A	c.(925-927)ctC>ctA	p.L309L		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	309					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L309L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CGTTGTTGCCGAGCCAGGACG	0.692																																						uc001myb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(925-927)CTC>CTA		aristaless-like homeobox 4							17.0	16.0	16.0					11																	44286713		2154	4218	6372	SO:0001819	synonymous_variant	60529				hair follicle development			g.chr11:44286713G>T	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.927C>A	11.37:g.44286713G>T							p.L309L	NM_021926	NP_068745	Q9H161	ALX4_HUMAN			4	1031	-			309					Q96JN7|Q9H198|Q9HAY9	Silent	SNP	ENST00000329255.3	37	c.927C>A	CCDS31468.1																																																																																				PASS	0.692	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1			3	11	3	11	---	---	---	---
OR4C15	81309	broad.mit.edu	37	11	55322397	55322397	+	Silent	SNP	C	C	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr11:55322397C>A	ENST00000314644.2	+	1	615	c.615C>A	c.(613-615)ggC>ggA	p.G205G		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G205G(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GGACAGGGGGCCTCTTGCATT	0.468										HNSCC(20;0.049)																												uc010rig.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(613-615)GGC>GGA		olfactory receptor, family 4, subfamily C,							93.0	89.0	90.0					11																	55322397		2201	4296	6497	SO:0001819	synonymous_variant	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322397C>A	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.615C>A	11.37:g.55322397C>A		HNSCC(20;0.049)					p.G205G	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	615	+			151			Helical; Name=4; (Potential).		Q6IFE2	Silent	SNP	ENST00000314644.2	37	c.615C>A	CCDS31501.1																																																																																				PASS	0.468	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		19	162	19	162	---	---	---	---
OR5M8	219484	broad.mit.edu	37	11	56258430	56258430	+	Silent	SNP	C	C	A	rs141674595		TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr11:56258430C>A	ENST00000327216.2	-	1	441	c.417G>T	c.(415-417)gtG>gtT	p.V139V		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V139V(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GGAAGGAGCACACACTCTTGG	0.527																																						uc001nix.1																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(415-417)GTG>GTT		olfactory receptor, family 5, subfamily M,							100.0	85.0	90.0					11																	56258430		2201	4296	6497	SO:0001819	synonymous_variant	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258430C>A	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.417G>T	11.37:g.56258430C>A							p.V139V	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN			1	417	-	Esophageal squamous(21;0.00352)		139			Helical; Name=4; (Potential).		B2RNM5|Q6IEW3|Q96RB8	Silent	SNP	ENST00000327216.2	37	c.417G>T	CCDS31533.1																																																																																				PASS	0.527	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		21	83	21	83	---	---	---	---
OR10Q1	219960	broad.mit.edu	37	11	57995755	57995755	+	Missense_Mutation	SNP	C	C	A	rs370515300		TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr11:57995755C>A	ENST00000316770.2	-	1	635	c.593G>T	c.(592-594)cGc>cTc	p.R198L		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R198L(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				CTGGTGCACGCGGATGTCAGC	0.597																																						uc010rkd.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(592-594)CGC>CTC		olfactory receptor, family 10, subfamily Q,							76.0	65.0	69.0					11																	57995755		2201	4295	6496	SO:0001583	missense	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995755C>A	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.593G>T	11.37:g.57995755C>A	ENSP00000314324:p.Arg198Leu						p.R198L	NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN			1	593	-		Breast(21;0.0589)	198			Extracellular (Potential).		Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	37	c.593G>T	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	C	6.952	0.545485	0.13312	.	.	ENSG00000180475	ENST00000316770	T	0.00084	8.75	4.43	-5.53	0.02552	GPCR, rhodopsin-like superfamily (1);	0.826026	0.10161	N	0.708370	T	0.00109	0.0003	N	0.25789	0.76	0.09310	N	1	P	0.39022	0.655	B	0.43867	0.434	T	0.20940	-1.0260	10	0.12430	T	0.62	.	12.7667	0.57396	0.0:0.3754:0.0:0.6246	.	198	Q8NGQ4	O10Q1_HUMAN	L	198	ENSP00000314324:R198L	ENSP00000314324:R198L	R	-	2	0	OR10Q1	57752331	0.000000	0.05858	0.086000	0.20670	0.015000	0.08874	-3.731000	0.00381	-1.235000	0.02545	-0.310000	0.09108	CGC		PASS	0.597	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		9	48	9	48	---	---	---	---
PATL1	219988	broad.mit.edu	37	11	59420456	59420456	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr11:59420456C>T	ENST00000300146.9	-	10	1241	c.1157G>A	c.(1156-1158)gGa>gAa	p.G386E		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	386	Involved in RNA-binding.|Involved in nuclear foci localization.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)	p.G386E(2)		central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						CCGGTGACTTCCTCTATCTCC	0.438																																						uc001noe.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1156-1158)GGA>GAA		protein associated with topoisomerase II homolog							178.0	167.0	170.0					11																	59420456		1939	4132	6071	SO:0001583	missense	219988				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding	g.chr11:59420456C>T	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.1157G>A	11.37:g.59420456C>T	ENSP00000300146:p.Gly386Glu					PATL1_uc009yms.1_Missense_Mutation_p.G356E|PATL1_uc010rkw.1_Missense_Mutation_p.G91E	p.G386E	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN			10	1300	-			386			Region N; interaction with decapping machinery.		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Missense_Mutation	SNP	ENST00000300146.9	37	c.1157G>A	CCDS44613.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.790400	0.70337	.	.	ENSG00000166889	ENST00000300146;ENST00000428532	T	0.47869	0.83	5.14	5.14	0.70334	.	0.355668	0.32002	N	0.006729	T	0.30293	0.0760	N	0.02539	-0.55	0.48830	D	0.999713	P;P	0.51537	0.933;0.946	P;P	0.49665	0.483;0.618	T	0.20472	-1.0274	10	0.06365	T	0.9	-6.7229	18.5607	0.91098	0.0:1.0:0.0:0.0	.	356;386	Q86TB9-4;Q86TB9	.;PATL1_HUMAN	E	386;356	ENSP00000300146:G386E	ENSP00000300146:G386E	G	-	2	0	PATL1	59177032	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.900000	0.48687	2.564000	0.86499	0.591000	0.81541	GGA		PASS	0.438	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716		44	214	44	214	---	---	---	---
VWCE	220001	broad.mit.edu	37	11	61050268	61050268	+	Silent	SNP	G	G	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr11:61050268G>A	ENST00000335613.5	-	6	1037	c.651C>T	c.(649-651)tcC>tcT	p.S217S		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	217	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.S217S(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TACCTACACAGGAGTGCCGGT	0.552																																						uc001nra.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(649-651)TCC>TCT		von Willebrand factor C and EGF domains							251.0	213.0	226.0					11																	61050268		2203	4299	6502	SO:0001819	synonymous_variant	220001					extracellular region	calcium ion binding	g.chr11:61050268G>A	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.651C>T	11.37:g.61050268G>A						VWCE_uc001nrb.2_RNA	p.S217S	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN			6	930	-			217			EGF-like 3; calcium-binding (Potential).		A5PKV0|Q7Z7L6|Q86WK8	Silent	SNP	ENST00000335613.5	37	c.651C>T	CCDS8002.1																																																																																				PASS	0.552	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		29	274	29	274	---	---	---	---
PRKRIR	5612	broad.mit.edu	37	11	76063785	76063785	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr11:76063785C>A	ENST00000260045.3	-	5	514	c.409G>T	c.(409-411)Gct>Tct	p.A137S	PRKRIR_ENST00000531878.1_5'UTR	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	137					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A137S(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						GGGTTCTGAGCATTGCTATTG	0.368																																						uc001oxh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(409-411)GCT>TCT		protein-kinase, interferon-inducible double							22.0	22.0	22.0					11																	76063785		2190	4281	6471	SO:0001583	missense	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76063785C>A	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.409G>T	11.37:g.76063785C>A	ENSP00000260045:p.Ala137Ser					PRKRIR_uc010rrz.1_5'UTR	p.A137S	NM_004705	NP_004696	O43422	P52K_HUMAN			5	409	-			137					A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	c.409G>T	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	C	6.715	0.500695	0.12822	.	.	ENSG00000137492	ENST00000260045	.	.	.	4.99	1.98	0.26296	.	0.982666	0.08384	N	0.954068	T	0.23133	0.0559	N	0.17082	0.46	0.29747	N	0.836687	B	0.02656	0.0	B	0.04013	0.001	T	0.32903	-0.9889	9	0.18276	T	0.48	.	3.9052	0.09178	0.135:0.59:0.1305:0.1445	.	137	O43422	P52K_HUMAN	S	137	.	ENSP00000260045:A137S	A	-	1	0	PRKRIR	75741433	0.997000	0.39634	0.996000	0.52242	0.847000	0.48162	0.747000	0.26290	0.219000	0.20840	0.586000	0.80456	GCT		PASS	0.368	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705		6	45	6	45	---	---	---	---
CEP164	22897	broad.mit.edu	37	11	117258018	117258018	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr11:117258018G>T	ENST00000278935.3	+	15	1971	c.1824G>T	c.(1822-1824)agG>agT	p.R608S	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	608	Glu-rich.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.R608S(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AAGACCAGAGGCACCTGCTGG	0.587																																						uc001prc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1822-1824)AGG>AGT		centrosomal protein 164kDa							96.0	93.0	94.0					11																	117258018		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117258018G>T	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.1824G>T	11.37:g.117258018G>T	ENSP00000278935:p.Arg608Ser					CEP164_uc001prb.2_Missense_Mutation_p.R611S|CEP164_uc010rxk.1_Missense_Mutation_p.R582S|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Missense_Mutation_p.R41S	p.R608S	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	15	1971	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	608			Glu-rich.		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.1824G>T	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794858	0.31777	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.41065	1.01	5.56	3.35	0.38373	.	0.550770	0.16729	N	0.201947	T	0.36082	0.0954	L	0.60455	1.87	0.09310	N	1	B;B;B;B	0.32829	0.267;0.386;0.386;0.386	B;B;B;B	0.31101	0.058;0.124;0.124;0.124	T	0.16217	-1.0410	10	0.28530	T	0.3	-7.4187	10.0424	0.42166	0.2371:0.0:0.7629:0.0	.	582;382;608;611	E9PI34;Q9NTH6;Q9UPV0;Q9UPV0-2	.;.;CE164_HUMAN;.	S	608;582;489	ENSP00000278935:R608S	ENSP00000278935:R608S	R	+	3	2	CEP164	116763228	0.001000	0.12720	0.005000	0.12908	0.621000	0.37620	0.885000	0.28227	1.346000	0.45694	0.655000	0.94253	AGG		PASS	0.587	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		32	146	32	146	---	---	---	---
C11orf63	79864	broad.mit.edu	37	11	122756635	122756635	+	Silent	SNP	A	A	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr11:122756635A>T	ENST00000531316.1	+	1	170	c.78A>T	c.(76-78)acA>acT	p.T26T	C11orf63_ENST00000307257.6_Silent_p.T26T|C11orf63_ENST00000227349.2_Silent_p.T26T			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	26					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)			p.T26T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TCCAGTCCACACACCCACCTT	0.383																																						uc001pym.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(76-78)ACA>ACT		hypothetical protein LOC79864 isoform 1							99.0	103.0	101.0					11																	122756635		2202	4299	6501	SO:0001819	synonymous_variant	79864							g.chr11:122756635A>T	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.78A>T	11.37:g.122756635A>T						C11orf63_uc001pyl.1_Silent_p.T26T	p.T26T	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	2	375	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	26					A8K6G0|Q96GB5|Q9H5D6	Silent	SNP	ENST00000531316.1	37	c.78A>T	CCDS8438.1																																																																																				PASS	0.383	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		10	157	10	157	---	---	---	---
ITFG2	55846	broad.mit.edu	37	12	2933085	2933085	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr12:2933085A>T	ENST00000228799.2	+	11	1355	c.1216A>T	c.(1216-1218)Agc>Tgc	p.S406C	ITFG2_ENST00000542548.1_Missense_Mutation_p.S294C|ITFG2_ENST00000419778.2_Missense_Mutation_p.S229C	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	406					germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.S406C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GGAGTACCACAGCCTGCTGCA	0.597																																						uc001qlb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1216-1218)AGC>TGC		integrin alpha FG-GAP repeat containing 2							76.0	77.0	77.0					12																	2933085		2203	4300	6503	SO:0001583	missense	55846							g.chr12:2933085A>T	AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.1216A>T	12.37:g.2933085A>T	ENSP00000228799:p.Ser406Cys					ITFG2_uc010seb.1_Missense_Mutation_p.S229C|ITFG2_uc010sec.1_RNA	p.S406C	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		11	1280	+			406					A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Missense_Mutation	SNP	ENST00000228799.2	37	c.1216A>T	CCDS8513.1	.	.	.	.	.	.	.	.	.	.	A	6.289	0.421431	0.11928	.	.	ENSG00000111203	ENST00000228799;ENST00000419778;ENST00000542548	T;T;T	0.09911	2.93;2.93;2.93	5.33	-10.7	0.00240	.	1.444290	0.03547	N	0.224811	T	0.05960	0.0155	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.28870	-1.0030	10	0.54805	T	0.06	-2.4563	5.3288	0.15920	0.1948:0.3256:0.3989:0.0807	.	406	Q969R8	ITFG2_HUMAN	C	406;229;294	ENSP00000228799:S406C;ENSP00000401103:S229C;ENSP00000437870:S294C	ENSP00000228799:S406C	S	+	1	0	ITFG2	2803346	0.000000	0.05858	0.000000	0.03702	0.478000	0.33099	-0.623000	0.05546	-2.443000	0.00548	0.459000	0.35465	AGC		PASS	0.597	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253091.1	NM_018463		18	98	18	98	---	---	---	---
NECAP1	25977	broad.mit.edu	37	12	8245544	8245544	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr12:8245544C>T	ENST00000339754.5	+	6	647	c.569C>T	c.(568-570)cCg>cTg	p.P190L		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	190					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|plasma membrane (GO:0005886)		p.P190L(1)		cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		CTCCCACCCCCGCCAGGAGGC	0.512																																						uc001qtx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(568-570)CCG>CTG		NECAP endocytosis associated 1							137.0	129.0	132.0					12																	8245544		2203	4300	6503	SO:0001583	missense	25977				endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane		g.chr12:8245544C>T	AK074923	CCDS8589.1	12p13.31	2012-05-02			ENSG00000089818	ENSG00000089818			24539	protein-coding gene	gene with protein product		611623				14555962, 15494011	Standard	NM_015509		Approved	DKFZP566B183	uc001qtx.2	Q8NC96	OTTHUMG00000168568	ENST00000339754.5:c.569C>T	12.37:g.8245544C>T	ENSP00000341737:p.Pro190Leu					NECAP1_uc001qty.2_Missense_Mutation_p.P48L	p.P190L	NM_015509	NP_056324	Q8NC96	NECP1_HUMAN		Kidney(36;0.0915)	6	647	+			190					Q2NL73|Q5XG95|Q6NWY6|Q8N153|Q8NCB0|Q9BU52|Q9Y407	Missense_Mutation	SNP	ENST00000339754.5	37	c.569C>T	CCDS8589.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483100	0.84747	.	.	ENSG00000089818	ENST00000545179;ENST00000339754;ENST00000540291;ENST00000540083	T;T	0.77750	0.53;-1.12	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.87545	0.6204	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.87630	0.2515	10	0.46703	T	0.11	.	13.1869	0.59686	0.0:1.0:0.0:0.0	.	190	Q8NC96	NECP1_HUMAN	L	190;190;48;48	ENSP00000341737:P190L;ENSP00000439319:P48L	ENSP00000341737:P190L	P	+	2	0	NECAP1	8136811	1.000000	0.71417	0.981000	0.43875	0.973000	0.67179	6.574000	0.74014	2.567000	0.86603	0.655000	0.94253	CCG		PASS	0.512	NECAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400244.1	NM_015509		16	176	16	176	---	---	---	---
CLEC1A	51267	broad.mit.edu	37	12	10241723	10241723	+	Splice_Site	SNP	A	A	G			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr12:10241723A>G	ENST00000315330.4	-	2	276	c.214T>C	c.(214-216)Ttt>Ctt	p.F72L	CLEC1A_ENST00000457018.2_Intron|CLEC1A_ENST00000420265.2_Intron	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	72					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.F72L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						GCAGACTTACACAAAAGCCCC	0.512																																						uc001qxb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(214-216)TTT>CTT		C-type lectin-like receptor-1							49.0	47.0	48.0					12																	10241723		2202	4300	6502	SO:0001630	splice_region_variant	51267				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	g.chr12:10241723A>G	AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"""C-type lectin domain containing"""	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.214+1T>C	12.37:g.10241723A>G						CLEC1A_uc009zhf.2_5'UTR|CLEC1A_uc001qxc.2_5'UTR|CLEC1A_uc001qxd.2_Intron|CLEC1A_uc010sgx.1_Intron	p.F72L	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN			2	298	-			72			Helical; Signal-anchor for type II membrane protein; (Potential).		Q8IUW7|Q9NZH3	Missense_Mutation	SNP	ENST00000315330.4	37	c.214T>C	CCDS8612.1	.	.	.	.	.	.	.	.	.	.	A	13.12	2.143702	0.37825	.	.	ENSG00000150048	ENST00000315330	T	0.01246	5.11	5.35	5.35	0.76521	.	0.127001	0.36409	N	0.002607	T	0.05640	0.0148	L	0.56124	1.755	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.44952	-0.9294	9	.	.	.	.	11.7418	0.51796	1.0:0.0:0.0:0.0	.	72	Q8NC01	CLC1A_HUMAN	L	72	ENSP00000326407:F72L	.	F	-	1	0	CLEC1A	10132990	1.000000	0.71417	1.000000	0.80357	0.293000	0.27360	2.986000	0.49370	2.022000	0.59522	0.533000	0.62120	TTT		PASS	0.512	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511	Missense_Mutation	11	47	11	47	---	---	---	---
WBP11	51729	broad.mit.edu	37	12	14947514	14947514	+	Silent	SNP	G	G	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr12:14947514G>A	ENST00000261167.2	-	7	911	c.678C>T	c.(676-678)ccC>ccT	p.P226P		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	226					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)	p.P226P(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GCCTACGAGGGGGAAGATCTA	0.488																																						uc001rci.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(676-678)CCC>CCT		WW domain binding protein 11							202.0	211.0	208.0					12																	14947514		2203	4300	6503	SO:0001819	synonymous_variant	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14947514G>A	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.678C>T	12.37:g.14947514G>A							p.P226P	NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN			7	839	-			226					Q96AY8	Silent	SNP	ENST00000261167.2	37	c.678C>T	CCDS8666.1																																																																																				PASS	0.488	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		67	403	67	403	---	---	---	---
RASSF8	11228	broad.mit.edu	37	12	26218104	26218104	+	Silent	SNP	G	G	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr12:26218104G>A	ENST00000405154.2	+	3	976	c.777G>A	c.(775-777)aaG>aaA	p.K259K	RASSF8_ENST00000282884.9_Silent_p.K259K|RASSF8_ENST00000542865.1_Silent_p.K259K|RASSF8_ENST00000381352.3_Silent_p.K259K|RASSF8_ENST00000541490.1_Silent_p.K259K	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	259	Glu-rich.				signal transduction (GO:0007165)			p.K259K(2)		cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					ACAAATTAAAGGACTATTTGG	0.373																																						uc001rgx.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(775-777)AAG>AAA		Ras association (RalGDS/AF-6) domain family							110.0	117.0	115.0					12																	26218104		2203	4300	6503	SO:0001819	synonymous_variant	11228				signal transduction			g.chr12:26218104G>A	U82396	CCDS8705.1, CCDS53765.1	12p12.3	2013-05-30	2008-02-22	2005-09-14	ENSG00000123094	ENSG00000123094			13232	protein-coding gene	gene with protein product		608231	"""chromosome 12 open reading frame 2"""	C12orf2			Standard	NM_007211		Approved	HoJ-1	uc001rgx.3	Q8NHQ8	OTTHUMG00000169087	ENST00000405154.2:c.777G>A	12.37:g.26218104G>A						RASSF8_uc001rgy.2_Silent_p.K259K|RASSF8_uc001rgz.2_Silent_p.K259K|RASSF8_uc009zjd.1_Silent_p.K259K|RASSF8_uc009zje.1_Silent_p.K259K	p.K259K	NM_007211	NP_009142	Q8NHQ8	RASF8_HUMAN			3	998	+	Colorectal(261;0.0847)		259			Glu-rich.		A8K1Z0|O95647|Q5SCI2|Q76KB6	Silent	SNP	ENST00000405154.2	37	c.777G>A	CCDS53765.1																																																																																				PASS	0.373	RASSF8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402209.2	NM_007211		10	199	10	199	---	---	---	---
ARNTL2	56938	broad.mit.edu	37	12	27553684	27553684	+	Silent	SNP	A	A	G			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr12:27553684A>G	ENST00000266503.5	+	10	1155	c.1137A>G	c.(1135-1137)ggA>ggG	p.G379G	RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000311001.5_Silent_p.G365G|ARNTL2_ENST00000542388.1_Silent_p.G294G|ARNTL2_ENST00000395901.2_Silent_p.G342G|ARNTL2_ENST00000544915.1_Silent_p.G345G|ARNTL2_ENST00000261178.5_Silent_p.G331G|ARNTL2_ENST00000546179.1_Silent_p.G342G			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	379	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.G379G(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					CAGTGAATGGAAAATTTGTCT	0.348																																						uc001rht.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1135-1137)GGA>GGG		aryl hydrocarbon receptor nuclear							74.0	78.0	77.0					12																	27553684		2203	4300	6503	SO:0001819	synonymous_variant	56938				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:27553684A>G	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"""Basic helix-loop-helix proteins"""	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.1137A>G	12.37:g.27553684A>G						ARNTL2_uc001rhw.2_Silent_p.G342G|ARNTL2_uc010sjp.1_Silent_p.G342G|ARNTL2_uc001rhu.1_Silent_p.G365G|ARNTL2_uc009zji.1_Silent_p.G345G|ARNTL2_uc001rhv.1_Silent_p.G331G|uc001rhx.2_Intron	p.G379G	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN			10	1155	+	Colorectal(261;0.0847)|Lung SC(9;0.184)		379			PAS 2.		B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Silent	SNP	ENST00000266503.5	37	c.1137A>G	CCDS8712.1	.	.	.	.	.	.	.	.	.	.	A	9.178	1.022862	0.19433	.	.	ENSG00000029153	ENST00000457040	.	.	.	4.05	0.404	0.16355	.	.	.	.	.	T	0.50377	0.1612	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34700	-0.9818	4	.	.	.	.	4.5669	0.12191	0.593:0.1567:0.2504:0.0	.	.	.	.	G	331	.	.	E	+	2	0	ARNTL2	27444951	0.984000	0.35163	0.996000	0.52242	0.993000	0.82548	0.249000	0.18216	-0.018000	0.14079	0.533000	0.62120	GAA		PASS	0.348	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183		25	147	25	147	---	---	---	---
PCED1B	91523	broad.mit.edu	37	12	47629351	47629351	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr12:47629351G>T	ENST00000546455.1	+	4	1236	c.505G>T	c.(505-507)Ggc>Tgc	p.G169C	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Missense_Mutation_p.G169C			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	169							hydrolase activity (GO:0016787)	p.G169C(1)									CATGCCTGTGGGCGAGGAAGT	0.612																																						uc001rpn.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(505-507)GGC>TGC		hypothetical protein LOC91523							42.0	42.0	42.0					12																	47629351		2203	4300	6503	SO:0001583	missense	91523						hydrolase activity	g.chr12:47629351G>T	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.505G>T	12.37:g.47629351G>T	ENSP00000446688:p.Gly169Cys					FAM113B_uc010slj.1_Missense_Mutation_p.G49C|FAM113B_uc001rpq.2_Missense_Mutation_p.G169C	p.G169C	NM_138371	NP_612380	Q96HM7	F113B_HUMAN			4	1236	+	Renal(347;0.138)|Lung SC(27;0.192)		169					Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.505G>T	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.869840	0.51588	.	.	ENSG00000179715	ENST00000546455;ENST00000432328;ENST00000548348;ENST00000330951	T;T;T	0.18174	2.23;2.23;2.23	4.29	4.29	0.51040	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.072096	0.53938	D	0.000047	T	0.40791	0.1131	M	0.71581	2.175	0.58432	D	0.999997	D	0.89917	1.0	D	0.81914	0.995	T	0.29336	-1.0015	10	0.87932	D	0	-18.4815	15.0587	0.71936	0.0:0.0:1.0:0.0	.	169	Q96HM7	F113B_HUMAN	C	169;169;49;49	ENSP00000446688:G169C;ENSP00000396040:G169C;ENSP00000448693:G49C	ENSP00000328560:G49C	G	+	1	0	FAM113B	45915618	1.000000	0.71417	0.447000	0.26932	0.034000	0.12701	7.469000	0.80959	2.673000	0.90976	0.655000	0.94253	GGC		PASS	0.612	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		7	86	7	86	---	---	---	---
SMUG1	23583	broad.mit.edu	37	12	54576119	54576119	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr12:54576119C>G	ENST00000508394.2	-	3	636	c.574G>C	c.(574-576)Ggg>Cgg	p.G192R	SMUG1_ENST00000513838.1_Intron|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000514685.1_Intron|SMUG1_ENST00000514196.1_Intron|SMUG1_ENST00000337581.3_Missense_Mutation_p.G192R|SMUG1_ENST00000243112.5_Intron|SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000506595.1_Intron|SMUG1_ENST00000401977.2_Missense_Mutation_p.G192R	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	192					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA N-glycosylase activity (GO:0019104)|oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity (GO:0000703)|single-strand selective uracil DNA N-glycosylase activity (GO:0017065)|uracil DNA N-glycosylase activity (GO:0004844)	p.G192R(1)		kidney(1)|large_intestine(4)|lung(1)	6						TCACAGATCCCAAGAAGCTGT	0.632								Base excision repair (BER), DNA glycosylases																														uc001sff.1																			1	Substitution - Missense(1)		lung(1)		0						c.(574-576)GGG>CGG	BER_DNA_glycosylases	single-strand-selective monofunctional							63.0	68.0	66.0					12																	54576119		2203	4300	6503	SO:0001583	missense	23583				depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity	g.chr12:54576119C>G	AF125182	CCDS8874.1, CCDS58239.1	12q13.13	2013-10-28			ENSG00000123415	ENSG00000123415			17148	protein-coding gene	gene with protein product		607753				10074426, 11526119	Standard	NM_014311		Approved	UNG3, FDG, HMUDG	uc009znf.2	Q53HV7	OTTHUMG00000160068	ENST00000508394.2:c.574G>C	12.37:g.54576119C>G	ENSP00000424191:p.Gly192Arg					SMUG1_uc001sfa.1_RNA|SMUG1_uc001sfe.1_3'UTR|SMUG1_uc001sfg.1_Missense_Mutation_p.G192R|SMUG1_uc009znf.1_Missense_Mutation_p.G192R|SMUG1_uc001sfb.3_Intron|SMUG1_uc001sfc.3_Intron|SMUG1_uc001sfd.3_Intron	p.G192R	NM_014311	NP_055126	Q53HV7	SMUG1_HUMAN			4	703	-			192					A8K2K9|O95862|Q0D2M0|Q8NB71|Q9BWC8	Missense_Mutation	SNP	ENST00000508394.2	37	c.574G>C	CCDS8874.1	.	.	.	.	.	.	.	.	.	.	C	0.032	-1.328961	0.01298	.	.	ENSG00000123415	ENST00000337581;ENST00000508394;ENST00000401977	T;T;T	0.42131	0.98;0.98;0.98	4.86	0.845	0.18950	Uracil-DNA glycosylase-like (3);	0.400829	0.29752	N	0.011282	T	0.16041	0.0386	N	0.04508	-0.205	0.09310	N	0.999995	B	0.09022	0.002	B	0.12156	0.007	T	0.17806	-1.0357	10	0.21014	T	0.42	.	4.6617	0.12646	0.1135:0.5317:0.2143:0.1405	.	192	Q53HV7	SMUG1_HUMAN	R	192	ENSP00000338606:G192R;ENSP00000424191:G192R;ENSP00000384828:G192R	ENSP00000338606:G192R	G	-	1	0	SMUG1	52862386	0.000000	0.05858	0.065000	0.19835	0.353000	0.29299	-0.187000	0.09656	-0.293000	0.08986	-2.479000	0.00199	GGG		PASS	0.632	SMUG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359074.3	NM_014311		10	130	10	130	---	---	---	---
MMP19	4327	broad.mit.edu	37	12	56234994	56234994	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr12:56234994G>T	ENST00000322569.4	-	3	291	c.200C>A	c.(199-201)cCa>cAa	p.P67Q	MMP19_ENST00000547487.1_5'UTR|MMP19_ENST00000548629.1_Missense_Mutation_p.P67Q|MMP19_ENST00000394182.1_5'Flank|MMP19_ENST00000409200.3_Missense_Mutation_p.P67Q	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	67					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P67Q(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	ACCTGAGACTGGAAGTTCAGA	0.512																																						uc001sib.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(199-201)CCA>CAA		matrix metalloproteinase 19 isoform rasi-1							60.0	60.0	60.0					12																	56234994		2203	4300	6503	SO:0001583	missense	4327				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr12:56234994G>T	X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"""matrix metalloproteinase 19"""	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.200C>A	12.37:g.56234994G>T	ENSP00000313437:p.Pro67Gln					MMP19_uc001sia.2_5'Flank|MMP19_uc001sid.2_Intron|MMP19_uc010spw.1_Missense_Mutation_p.P67Q	p.P67Q	NM_002429	NP_002420	Q99542	MMP19_HUMAN			3	321	-			67					B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP	ENST00000322569.4	37	c.200C>A	CCDS8895.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234354	0.79800	.	.	ENSG00000123342	ENST00000322569;ENST00000548629;ENST00000409200	T;T;T	0.37752	1.18;1.18;1.18	5.62	5.62	0.85841	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.106533	0.64402	D	0.000004	T	0.53045	0.1772	L	0.58101	1.795	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.66084	0.933;0.941	T	0.37753	-0.9692	10	0.18276	T	0.48	.	16.576	0.84648	0.0:0.0:1.0:0.0	.	67;67	B4E030;Q99542	.;MMP19_HUMAN	Q	67	ENSP00000313437:P67Q;ENSP00000446979:P67Q;ENSP00000386625:P67Q	ENSP00000313437:P67Q	P	-	2	0	MMP19	54521261	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.187000	0.65087	2.653000	0.90120	0.655000	0.94253	CCA		PASS	0.512	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408023.1	NM_002429		8	82	8	82	---	---	---	---
KIF5A	3798	broad.mit.edu	37	12	57957931	57957931	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr12:57957931G>T	ENST00000455537.2	+	4	606	c.332G>T	c.(331-333)cGa>cTa	p.R111L	KIF5A_ENST00000286452.5_Intron	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	111	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.R111Q(1)|p.R111L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						ATCATTCCTCGAATTGCCCGA	0.527																																						uc001sor.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(2)|skin(1)	3						c.(331-333)CGA>CTA		kinesin family member 5A							108.0	91.0	96.0					12																	57957931		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57957931G>T	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.332G>T	12.37:g.57957931G>T	ENSP00000408979:p.Arg111Leu					KIF5A_uc010srr.1_Intron	p.R111L	NM_004984	NP_004975	Q12840	KIF5A_HUMAN			4	540	+			111			Kinesin-motor.		A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.332G>T	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	34	5.399334	0.96030	.	.	ENSG00000155980	ENST00000455537	T	0.74421	-0.84	4.87	4.87	0.63330	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.87233	0.6126	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88921	0.3366	10	0.87932	D	0	.	17.3316	0.87265	0.0:0.0:1.0:0.0	.	111	Q12840	KIF5A_HUMAN	L	111	ENSP00000408979:R111L	ENSP00000408979:R111L	R	+	2	0	KIF5A	56244198	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.431000	0.97494	2.691000	0.91804	0.655000	0.94253	CGA		PASS	0.527	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		9	123	9	123	---	---	---	---
FRS2	10818	broad.mit.edu	37	12	69968278	69968278	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr12:69968278C>G	ENST00000550389.1	+	7	1316	c.1070C>G	c.(1069-1071)cCt>cGt	p.P357R	FRS2_ENST00000549921.1_Missense_Mutation_p.P357R|FRS2_ENST00000397997.2_Missense_Mutation_p.P357R|FRS2_ENST00000299293.2_Missense_Mutation_p.P357R	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	357					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.P357R(2)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TCTTTGCCTCCTGTTTGGGAA	0.418																																						uc001suy.2																			2	Substitution - Missense(2)		lung(2)	prostate(1)|kidney(1)	2						c.(1069-1071)CCT>CGT		fibroblast growth factor receptor substrate 2							71.0	67.0	68.0					12																	69968278		1865	4113	5978	SO:0001583	missense	10818				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr12:69968278C>G	AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.1070C>G	12.37:g.69968278C>G	ENSP00000447241:p.Pro357Arg					FRS2_uc001suz.2_Missense_Mutation_p.P357R|FRS2_uc009zrj.2_Missense_Mutation_p.P357R|FRS2_uc009zrk.2_Missense_Mutation_p.P357R	p.P357R	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		10	1580	+	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		357					B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP	ENST00000550389.1	37	c.1070C>G	CCDS41809.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.415033	0.42817	.	.	ENSG00000166225	ENST00000299293;ENST00000549921;ENST00000550389;ENST00000397997	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	6.14	6.14	0.99180	.	0.099112	0.64402	D	0.000001	T	0.53916	0.1826	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.31752	-0.9932	9	.	.	.	-9.6125	20.8597	0.99761	0.0:1.0:0.0:0.0	.	357	Q8WU20	FRS2_HUMAN	R	357	ENSP00000299293:P357R;ENSP00000450048:P357R;ENSP00000447241:P357R;ENSP00000381083:P357R	.	P	+	2	0	FRS2	68254545	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.263000	0.78421	2.937000	0.99478	0.650000	0.86243	CCT		PASS	0.418	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403760.1	NM_006654		19	154	19	154	---	---	---	---
PTPRB	5787	broad.mit.edu	37	12	70963667	70963667	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr12:70963667C>T	ENST00000261266.5	-	12	2797	c.2768G>A	c.(2767-2769)aGc>aAc	p.S923N	PTPRB_ENST00000334414.6_Missense_Mutation_p.S1141N|PTPRB_ENST00000538708.1_Missense_Mutation_p.S923N|PTPRB_ENST00000550857.1_Missense_Mutation_p.S833N|PTPRB_ENST00000550358.1_Missense_Mutation_p.S1053N|PTPRB_ENST00000451516.2_Missense_Mutation_p.S833N|PTPRB_ENST00000551525.1_Missense_Mutation_p.S1140N	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	923	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S923N(2)|p.S1141N(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CACCGTCAGGCTATCTGTTGC	0.428																																						uc001swb.3																			3	Substitution - Missense(3)		lung(3)	lung(2)|skin(1)	3						c.(2767-2769)AGC>AAC		protein tyrosine phosphatase, receptor type, B							69.0	66.0	67.0					12																	70963667		1944	4145	6089	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70963667C>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.2768G>A	12.37:g.70963667C>T	ENSP00000261266:p.Ser923Asn					PTPRB_uc010sto.1_Missense_Mutation_p.S923N|PTPRB_uc010stp.1_Missense_Mutation_p.S833N|PTPRB_uc001swc.3_Missense_Mutation_p.S1141N|PTPRB_uc001swa.3_Missense_Mutation_p.S1053N|PTPRB_uc001swd.3_Missense_Mutation_p.S1140N|PTPRB_uc009zrr.1_Missense_Mutation_p.S1020N	p.S923N	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		12	2798	-	Renal(347;0.236)		923			Fibronectin type-III 11.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.2768G>A	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837625	0.71373	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01;0.01;0.01;0.01	5.3	4.4	0.53042	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.169728	0.64402	D	0.000005	T	0.78362	0.4271	M	0.80746	2.51	0.42968	D	0.994424	D;P;P;P;D;D;D	0.59767	0.974;0.946;0.799;0.896;0.986;0.963;0.975	P;P;P;P;D;P;P	0.63283	0.839;0.877;0.868;0.733;0.913;0.9;0.848	T	0.82135	-0.0607	10	0.56958	D	0.05	.	16.2339	0.82361	0.0:0.8668:0.1332:0.0	.	833;923;1020;1140;1141;923;1053	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	N	1141;833;1053;923;833;923;1140;1020	ENSP00000334928:S1141N;ENSP00000393028:S833N;ENSP00000448058:S1053N;ENSP00000438927:S923N;ENSP00000447302:S833N;ENSP00000261266:S923N;ENSP00000448349:S1140N;ENSP00000446982:S1020N	ENSP00000261266:S923N	S	-	2	0	PTPRB	69249934	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	5.480000	0.66820	1.350000	0.45770	-0.332000	0.08345	AGC		PASS	0.428	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			11	49	11	49	---	---	---	---
CEP290	80184	broad.mit.edu	37	12	88508920	88508920	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr12:88508920C>A	ENST00000552810.1	-	19	2207	c.1864G>T	c.(1864-1866)Gat>Tat	p.D622Y	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.D624Y	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	622					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.D624Y(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CTTTCTAAATCTCTTTCTTTT	0.249																																						uc001tar.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)|pancreas(1)	7						c.(1864-1866)GAT>TAT		centrosomal protein 290kDa							53.0	50.0	51.0					12																	88508920		1787	4051	5838	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88508920C>A	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1864G>T	12.37:g.88508920C>A	ENSP00000448012:p.Asp622Tyr					CEP290_uc001tat.2_Missense_Mutation_p.D415Y|CEP290_uc009zsl.1_RNA	p.D622Y	NM_025114	NP_079390	O15078	CE290_HUMAN			19	2208	-			622			Potential.		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.1864G>T	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300506	0.81136	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139	T;T	0.80393	-1.37;-1.37	5.35	5.35	0.76521	.	0.055527	0.64402	D	0.000001	D	0.84524	0.5491	L	0.44542	1.39	0.80722	D	1	D;D	0.59767	0.986;0.986	P;P	0.57152	0.814;0.742	D	0.85471	0.1173	10	0.62326	D	0.03	.	19.4455	0.94844	0.0:1.0:0.0:0.0	.	622;622	Q05BJ6;O15078	.;CE290_HUMAN	Y	622;624;622;524	ENSP00000448012:D622Y;ENSP00000308021:D624Y	ENSP00000308021:D624Y	D	-	1	0	CEP290	87033051	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.009000	0.70745	2.666000	0.90696	0.650000	0.86243	GAT		PASS	0.249	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		5	33	5	33	---	---	---	---
RPH3A	22895	broad.mit.edu	37	12	113312915	113312915	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr12:113312915G>T	ENST00000389385.4	+	11	1320	c.823G>T	c.(823-825)Gcc>Tcc	p.A275S	RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000447659.2_Missense_Mutation_p.A226S|RPH3A_ENST00000548866.1_Missense_Mutation_p.A226S|RPH3A_ENST00000420983.2_Missense_Mutation_p.A275S|RPH3A_ENST00000415485.3_Missense_Mutation_p.A275S|RPH3A_ENST00000551052.1_Missense_Mutation_p.A271S|RPH3A_ENST00000543106.2_Missense_Mutation_p.A275S	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	275	Pro-rich.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)	p.A271S(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CTCAGTCCAGGCCTCCAGACC	0.602																																						uc010syl.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(823-825)GCC>TCC		rabphilin 3A homolog isoform 1							13.0	15.0	14.0					12																	113312915		2200	4295	6495	SO:0001583	missense	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113312915G>T	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.823G>T	12.37:g.113312915G>T	ENSP00000374036:p.Ala275Ser					RPH3A_uc001ttz.2_Missense_Mutation_p.A275S|RPH3A_uc001tty.2_Missense_Mutation_p.A271S|RPH3A_uc009zwe.1_Missense_Mutation_p.A271S|RPH3A_uc010sym.1_Missense_Mutation_p.A226S|RPH3A_uc001tua.2_Missense_Mutation_p.A35S	p.A275S	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	11	1185	+			275			Pro-rich.		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	c.823G>T	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.888973	0.52014	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09;0.09;0.09	5.21	5.21	0.72293	.	0.227431	0.29321	N	0.012496	T	0.51227	0.1662	L	0.38531	1.155	0.28250	N	0.9253	P;P;P;P	0.49559	0.827;0.799;0.799;0.925	B;B;B;P	0.47162	0.442;0.255;0.255;0.54	T	0.47341	-0.9125	10	0.07813	T	0.8	.	16.2476	0.82454	0.0:0.0:1.0:0.0	.	226;275;275;271	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	S	275;275;226;271;275;226;275	ENSP00000440384:A275S;ENSP00000374036:A275S;ENSP00000413254:A226S;ENSP00000448297:A271S;ENSP00000405357:A275S;ENSP00000450347:A226S;ENSP00000408889:A275S	ENSP00000374036:A275S	A	+	1	0	RPH3A	111797298	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.855000	0.62925	2.432000	0.82394	0.467000	0.42956	GCC		PASS	0.602	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		3	8	3	8	---	---	---	---
OGFOD2	79676	broad.mit.edu	37	12	123463863	123463863	+	Silent	SNP	C	C	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr12:123463863C>T	ENST00000228922.7	+	7	1055	c.1023C>T	c.(1021-1023)ccC>ccT	p.P341P	OGFOD2_ENST00000454694.2_Silent_p.P177P|OGFOD2_ENST00000538628.1_Silent_p.P177P|ARL6IP4_ENST00000426960.2_5'Flank|ARL6IP4_ENST00000357866.4_5'Flank|ABCB9_ENST00000542678.1_5'UTR|OGFOD2_ENST00000397389.2_Silent_p.P281P|ARL6IP4_ENST00000315580.5_5'Flank|OGFOD2_ENST00000536150.1_Silent_p.P177P|ARL6IP4_ENST00000412505.2_5'Flank|ARL6IP4_ENST00000439686.2_5'Flank|ARL6IP4_ENST00000454885.2_5'Flank|OGFOD2_ENST00000545612.1_Silent_p.P177P|OGFOD2_ENST00000545317.1_Silent_p.P177P|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000543566.1_5'Flank|OGFOD2_ENST00000538755.1_Silent_p.P177P|ARL6IP4_ENST00000392435.2_5'Flank|ARL6IP4_ENST00000453766.2_5'Flank			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	341							iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)	p.P281P(1)		breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	GAGAGGAGCCCGCCACGGTGG	0.647																																						uc001uea.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1021-1023)CCC>CCT		2-oxoglutarate and iron-dependent oxygenase	Vitamin C(DB00126)						32.0	37.0	36.0					12																	123463863		2103	4224	6327	SO:0001819	synonymous_variant	79676						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr12:123463863C>T	AK094820	CCDS41855.1	12q24.31	2010-11-23			ENSG00000111325	ENSG00000111325			25823	protein-coding gene	gene with protein product						12477932	Standard	NM_024623		Approved	FLJ13491, FLJ37501	uc001udz.1	Q6N063		ENST00000228922.7:c.1023C>T	12.37:g.123463863C>T						OGFOD2_uc001uds.1_Silent_p.P177P|OGFOD2_uc001udt.1_Silent_p.P177P|OGFOD2_uc001udu.1_Silent_p.P177P|OGFOD2_uc001udv.1_Silent_p.P177P|OGFOD2_uc009zxs.1_Silent_p.P177P|OGFOD2_uc001udw.1_Silent_p.P177P|OGFOD2_uc001udx.1_Silent_p.P177P|OGFOD2_uc001udy.1_Silent_p.P177P|OGFOD2_uc001udz.1_Silent_p.P281P|OGFOD2_uc001ueb.1_Silent_p.P177P|ARL6IP4_uc001uec.2_5'Flank|ARL6IP4_uc001ued.2_5'Flank|ARL6IP4_uc001uee.2_5'Flank|ARL6IP4_uc001uef.2_5'Flank|ARL6IP4_uc001ueg.2_5'Flank|ARL6IP4_uc009zxt.2_5'Flank|ARL6IP4_uc001ueh.2_5'Flank|ARL6IP4_uc001uei.2_5'Flank	p.P341P	NM_024623	NP_078899	Q6N063	OGFD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	7	1044	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		341					B3KT24|Q4KN13|Q6N023|Q9H8K6	Silent	SNP	ENST00000228922.7	37	c.1023C>T																																																																																					PASS	0.647	OGFOD2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000400984.1	NM_024623		4	57	4	57	---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124840069	124840069	+	Missense_Mutation	SNP	G	G	A	rs530717643		TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr12:124840069G>A	ENST00000405201.1	-	24	3290	c.3290C>T	c.(3289-3291)cCg>cTg	p.P1097L	NCOR2_ENST00000404121.2_Missense_Mutation_p.P658L|NCOR2_ENST00000356219.3_Missense_Mutation_p.P1104L|NCOR2_ENST00000397355.1_Missense_Mutation_p.P1088L|NCOR2_ENST00000429285.2_Missense_Mutation_p.P1087L|NCOR2_ENST00000404621.1_Missense_Mutation_p.P1087L			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1105					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.P1097L(1)|p.P1104L(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGGTGGGCGCGGCAGGACGGG	0.657																																						uc010tba.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(3313-3315)CCG>CTG		nuclear receptor co-repressor 2 isoform 2							47.0	69.0	61.0					12																	124840069		2126	4202	6328	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124840069G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.3290C>T	12.37:g.124840069G>A	ENSP00000384018:p.Pro1097Leu					NCOR2_uc010tay.1_Missense_Mutation_p.P1104L|NCOR2_uc010taz.1_Missense_Mutation_p.P1088L|NCOR2_uc010tbb.1_Missense_Mutation_p.P1097L|NCOR2_uc010tbc.1_Missense_Mutation_p.P1087L|NCOR2_uc001ugj.1_Missense_Mutation_p.P1105L	p.P1105L	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	24	3431	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1105					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.3314C>T	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847197	0.32606	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.32515	2.23;2.48;2.22;2.48;2.22;2.48;1.45	4.97	3.99	0.46301	.	0.220978	0.39407	N	0.001365	T	0.45915	0.1366	L	0.59436	1.845	0.47153	D	0.999339	D;D;D	0.89917	1.0;0.997;0.998	D;P;P	0.64144	0.922;0.714;0.805	T	0.29243	-1.0018	10	0.36615	T	0.2	-15.3367	12.0651	0.53583	0.0:0.0:0.732:0.268	.	1087;1088;1097	C9J0Q5;C9J239;C9JFD3	.;.;.	L	1097;1087;1104;1088;1096;658;1087;1105	ENSP00000384018:P1097L;ENSP00000384202:P1087L;ENSP00000348551:P1104L;ENSP00000380513:P1088L;ENSP00000385618:P658L;ENSP00000400281:P1087L;ENSP00000402808:P1105L	ENSP00000348551:P1104L	P	-	2	0	NCOR2	123406022	0.997000	0.39634	0.985000	0.45067	0.120000	0.20174	3.145000	0.50623	2.302000	0.77476	0.462000	0.41574	CCG		PASS	0.657	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		6	35	6	35	---	---	---	---
TRPC4	7223	broad.mit.edu	37	13	38357198	38357198	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr13:38357198G>T	ENST00000379705.3	-	2	1130	c.273C>A	c.(271-273)agC>agA	p.S91R	TRPC4_ENST00000358477.2_Missense_Mutation_p.S91R|TRPC4_ENST00000379681.3_Missense_Mutation_p.S91R|TRPC4_ENST00000447043.1_Missense_Mutation_p.S91R|TRPC4_ENST00000379679.1_Missense_Mutation_p.S91R|TRPC4_ENST00000379673.2_Missense_Mutation_p.S91R|TRPC4_ENST00000338947.5_Missense_Mutation_p.S91R|TRPC4_ENST00000426868.2_Missense_Mutation_p.S91R|TRPC4_ENST00000355779.2_Missense_Mutation_p.S91R			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	91	Multimerization domain. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.S91R(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGACATTAAAGCTTAAGAGTA	0.368																																						uc001uws.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|breast(1)	6						c.(271-273)AGC>AGA		transient receptor potential cation channel,							68.0	68.0	68.0					13																	38357198		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38357198G>T	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.273C>A	13.37:g.38357198G>T	ENSP00000369027:p.Ser91Arg					TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Missense_Mutation_p.S91R|TRPC4_uc010tey.1_Missense_Mutation_p.S91R|TRPC4_uc010abw.2_Missense_Mutation_p.S91R|TRPC4_uc010abx.2_Missense_Mutation_p.S91R|TRPC4_uc010aby.2_Missense_Mutation_p.S91R	p.S91R	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	2	508	-			91			ANK 2.|Cytoplasmic (Potential).|Multimerization domain (By similarity).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.273C>A	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	G	9.053	0.992518	0.18966	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	6.01	-1.3	0.09259	Ankyrin repeat-containing domain (3);	0.111364	0.85682	N	0.000000	T	0.47229	0.1434	N	0.17345	0.48	0.40836	D	0.983632	B;B;B;B;B;B	0.29136	0.138;0.066;0.004;0.008;0.079;0.234	B;B;B;B;B;B	0.40444	0.049;0.049;0.006;0.009;0.049;0.329	T	0.40289	-0.9571	10	0.87932	D	0	-15.2804	8.07	0.30682	0.5308:0.1102:0.3589:0.0	.	91;91;91;91;91;91	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	R	91	ENSP00000369027:S91R;ENSP00000369003:S91R;ENSP00000342580:S91R;ENSP00000369001:S91R;ENSP00000410133:S91R;ENSP00000348025:S91R;ENSP00000351264:S91R;ENSP00000368995:S91R;ENSP00000414316:S91R	ENSP00000342580:S91R	S	-	3	2	TRPC4	37255198	0.998000	0.40836	0.513000	0.27749	0.390000	0.30446	0.495000	0.22483	-0.184000	0.10567	0.650000	0.86243	AGC		PASS	0.368	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		31	126	31	126	---	---	---	---
GPC6	10082	broad.mit.edu	37	13	94197638	94197638	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr13:94197638C>T	ENST00000377047.4	+	2	898	c.283C>T	c.(283-285)Cgc>Tgc	p.R95C		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	95					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.R95C(1)|p.R95S(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CCATTTTGTGCGCACCACTTT	0.398																																						uc001vlt.2																			2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)		0						c.(283-285)CGC>TGC		glypican 6 precursor							154.0	147.0	149.0					13																	94197638		2203	4300	6503	SO:0001583	missense	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:94197638C>T	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.283C>T	13.37:g.94197638C>T	ENSP00000366246:p.Arg95Cys					GPC6_uc010tig.1_Missense_Mutation_p.R95C|GPC6_uc001vlu.1_Missense_Mutation_p.R25C	p.R95C	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN			2	915	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)	95					A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	37	c.283C>T	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729970	0.69074	.	.	ENSG00000183098	ENST00000377047	T	0.52983	0.64	5.05	3.11	0.35812	.	0.000000	0.64402	D	0.000002	T	0.61438	0.2347	L	0.60455	1.87	0.49798	D	0.999826	D;D	0.89917	1.0;0.999	D;D	0.65443	0.935;0.935	T	0.66006	-0.6030	10	0.72032	D	0.01	.	13.3944	0.60843	0.2943:0.7057:0.0:0.0	.	95;95	B4E2M1;Q9Y625	.;GPC6_HUMAN	C	95	ENSP00000366246:R95C	ENSP00000366246:R95C	R	+	1	0	GPC6	92995639	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	2.806000	0.47947	1.203000	0.43233	0.644000	0.83932	CGC		PASS	0.398	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		43	178	43	178	---	---	---	---
ATP11A	23250	broad.mit.edu	37	13	113460563	113460563	+	Missense_Mutation	SNP	G	G	A	rs150693839		TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr13:113460563G>A	ENST00000487903.1	+	4	377	c.289G>A	c.(289-291)Gga>Aga	p.G97R	ATP11A_ENST00000283558.8_Missense_Mutation_p.G97R|ATP11A_ENST00000375630.2_Missense_Mutation_p.G97R|ATP11A_ENST00000375645.3_Missense_Mutation_p.G97R			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	97					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G97R(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				AGTGACAAGCGGACTTCCACT	0.398																																						uc001vsi.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)	4						c.(289-291)GGA>AGA		ATPase, class VI, type 11A isoform a		G	ARG/GLY,ARG/GLY	0,4406		0,0,2203	178.0	159.0	166.0		289,289	5.2	0.5	13	dbSNP_134	166	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ATP11A	NM_015205.2,NM_032189.3	125,125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	97/1135,97/1192	113460563	1,13005	2203	4300	6503	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113460563G>A	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.289G>A	13.37:g.113460563G>A	ENSP00000420387:p.Gly97Arg					ATP11A_uc001vsj.3_Missense_Mutation_p.G97R|ATP11A_uc001vsm.1_5'UTR	p.G97R	NM_015205	NP_056020	P98196	AT11A_HUMAN			4	377	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	97			Helical; (Potential).		Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.289G>A	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.519688	0.64634	0.0	1.16E-4	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.2	5.2	0.72013	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.85102	0.5620	M	0.78801	2.425	0.80722	D	1	D;D	0.69078	0.997;0.993	P;P	0.61722	0.893;0.893	D	0.87000	0.2116	10	0.66056	D	0.02	.	17.5437	0.87855	0.0:0.0:1.0:0.0	.	97;97	E9PEJ6;P98196	.;AT11A_HUMAN	R	97	ENSP00000420387:G97R;ENSP00000364781:G97R;ENSP00000364796:G97R;ENSP00000283558:G97R	ENSP00000283558:G97R	G	+	1	0	ATP11A	112508564	1.000000	0.71417	0.535000	0.28026	0.007000	0.05969	8.373000	0.90131	2.423000	0.82170	0.561000	0.74099	GGA		PASS	0.398	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		64	161	64	161	---	---	---	---
DHRS4L2	317749	broad.mit.edu	37	14	24470661	24470661	+	Silent	SNP	G	G	C			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr14:24470661G>C	ENST00000335125.6	+	6	726	c.600G>C	c.(598-600)ctG>ctC	p.L200L	DHRS4L2_ENST00000537912.1_Silent_p.L125L|DHRS4L2_ENST00000558753.1_Silent_p.L125L|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000534993.1_Intron|DHRS4L2_ENST00000382755.4_Silent_p.L198L|DHRS4L2_ENST00000397071.1_Intron|DHRS4L2_ENST00000545240.1_Intron	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	198						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)	p.L200L(1)		breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		CCATAGAGCTGGCCCCAAGGA	0.502																																						uc001wli.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(598-600)CTG>CTC		dehydrogenase/reductase (SDR family) member 4							138.0	154.0	149.0					14																	24470661		2143	4300	6443	SO:0001819	synonymous_variant	317749						binding|oxidoreductase activity	g.chr14:24470661G>C		CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	19731	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 3"""	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.600G>C	14.37:g.24470661G>C						DHRS4_uc001wlc.3_Intron|DHRS4L2_uc001wld.3_Intron|DHRS4L2_uc001wle.3_Intron|DHRS4L2_uc001wlg.3_Intron|DHRS4L2_uc001wlh.3_Intron|DHRS4L2_uc010tnt.1_Silent_p.L123L|DHRS4L2_uc010alb.2_Silent_p.L74L	p.L200L	NM_198083	NP_932349	D5KJA1	D5KJA1_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	6	730	+			138					Q3YLD4	Silent	SNP	ENST00000335125.6	37	c.600G>C	CCDS9606.2																																																																																				PASS	0.502	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4			18	287	18	287	---	---	---	---
NYNRIN	57523	broad.mit.edu	37	14	24877097	24877097	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr14:24877097G>T	ENST00000382554.3	+	3	539	c.221G>T	c.(220-222)aGc>aTc	p.S74I		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	74					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.S74I(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGCCTGTGCAGCCCAGAGCTG	0.617																																						uc001wpf.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(220-222)AGC>ATC		hypothetical protein LOC57523							71.0	76.0	74.0					14																	24877097		2038	4190	6228	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24877097G>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.221G>T	14.37:g.24877097G>T	ENSP00000371994:p.Ser74Ile						p.S74I	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			3	539	+			74					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.221G>T	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.831846	0.32421	.	.	ENSG00000205978	ENST00000382554	T	0.10860	2.83	4.73	-0.744	0.11101	.	0.787616	0.10392	N	0.680278	T	0.12008	0.0292	L	0.57536	1.79	0.21675	N	0.999598	P	0.37864	0.61	B	0.38803	0.282	T	0.16867	-1.0388	10	0.87932	D	0	.	6.6024	0.22707	0.4468:0.1226:0.4305:0.0	.	74	Q9P2P1	NYNRI_HUMAN	I	74	ENSP00000371994:S74I	ENSP00000371994:S74I	S	+	2	0	NYNRIN	23946937	0.927000	0.31430	0.928000	0.36995	0.964000	0.63967	0.252000	0.18278	-0.672000	0.05266	-1.119000	0.02030	AGC		PASS	0.617	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			30	129	30	129	---	---	---	---
SSTR1	6751	broad.mit.edu	37	14	38679133	38679133	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr14:38679133G>T	ENST00000267377.2	+	3	1156	c.539G>T	c.(538-540)gGc>gTc	p.G180V		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	180					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.G180V(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	GTAAACCTGGGCGTGTGGGTG	0.647																																						uc001wul.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)|lung(1)	5						c.(538-540)GGC>GTC		somatostatin receptor 1	Octreotide(DB00104)						81.0	80.0	80.0					14																	38679133		2203	4300	6503	SO:0001583	missense	6751				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38679133G>T		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.539G>T	14.37:g.38679133G>T	ENSP00000267377:p.Gly180Val					SSTR1_uc010amu.1_Intron	p.G180V	NM_001049	NP_001040	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	1156	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		180			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000267377.2	37	c.539G>T	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934718	0.34189	.	.	ENSG00000139874	ENST00000267377	T	0.36520	1.25	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.098779	0.41712	D	0.000822	T	0.31451	0.0797	L	0.31371	0.925	0.80722	D	1	B	0.18741	0.03	B	0.22152	0.038	T	0.12915	-1.0529	10	0.66056	D	0.02	.	17.0667	0.86561	0.0:0.0:1.0:0.0	.	180	P30872	SSR1_HUMAN	V	180	ENSP00000267377:G180V	ENSP00000267377:G180V	G	+	2	0	SSTR1	37748884	0.996000	0.38824	1.000000	0.80357	0.952000	0.60782	2.428000	0.44749	2.514000	0.84764	0.561000	0.74099	GGC		PASS	0.647	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			28	74	28	74	---	---	---	---
GPHN	10243	broad.mit.edu	37	14	67555743	67555743	+	Silent	SNP	C	C	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr14:67555743C>T	ENST00000315266.5	+	11	2210	c.1089C>T	c.(1087-1089)gaC>gaT	p.D363D	GPHN_ENST00000478722.1_Silent_p.D396D|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Silent_p.D409D|GPHN_ENST00000305960.9_Silent_p.D332D	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	363	MPT adenylyltransferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)	p.D396D(1)		large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		ATGCAAAAGACAATTTACCCC	0.393			T	MLL	AL																																	uc001xiy.2				Dom	yes		14	14q24	10243	T	gephyrin (GPH)			L	MLL		AL		1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1087-1089)GAC>GAT		gephyrin isoform 2							106.0	97.0	100.0					14																	67555743		2203	4300	6503	SO:0001819	synonymous_variant	10243				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	g.chr14:67555743C>T	AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.1089C>T	14.37:g.67555743C>T						GPHN_uc001xix.2_Silent_p.D396D|GPHN_uc010tss.1_Silent_p.D409D|GPHN_uc010tst.1_Silent_p.D332D|GPHN_uc010tsu.1_Silent_p.D286D	p.D363D	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)	11	2210	+		all_cancers(7;0.0476)|all_hematologic(31;0.0116)	363			MPT adenylyltransferase.		Q9H4E9|Q9P2G2	Silent	SNP	ENST00000315266.5	37	c.1089C>T	CCDS32103.1																																																																																				PASS	0.393	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		20	64	20	64	---	---	---	---
RPS6KA5	9252	broad.mit.edu	37	14	91369242	91369242	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr14:91369242T>G	ENST00000261991.3	-	9	1202	c.1029A>C	c.(1027-1029)ttA>ttC	p.L343F	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.L343F|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.L264F	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	343	AGC-kinase C-terminal.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L343F(2)		endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TACTCACATCTAATTCATCTC	0.418																																						uc001xys.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1027-1029)TTA>TTC		ribosomal protein S6 kinase, polypeptide 5							116.0	101.0	106.0					14																	91369242		2203	4300	6503	SO:0001583	missense	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91369242T>G	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.1029A>C	14.37:g.91369242T>G	ENSP00000261991:p.Leu343Phe					RPS6KA5_uc010twi.1_Missense_Mutation_p.L264F|RPS6KA5_uc001xyt.2_Missense_Mutation_p.L343F|RPS6KA5_uc010att.1_RNA	p.L343F	NM_004755	NP_004746	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	9	1244	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	343			AGC-kinase C-terminal.		O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	c.1029A>C	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	T	13.27	2.188388	0.38609	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.58506	0.33;0.33;0.33	5.6	-2.26	0.06867	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.64402	D	0.000002	T	0.63486	0.2515	M	0.73430	2.235	0.58432	D	0.999999	D;D	0.60575	0.975;0.988	P;P	0.58620	0.798;0.842	T	0.61559	-0.7038	10	0.42905	T	0.14	.	7.7182	0.28717	0.127:0.5053:0.0:0.3677	.	343;343	O75582-2;O75582	.;KS6A5_HUMAN	F	343;264;343	ENSP00000261991:L343F;ENSP00000442803:L264F;ENSP00000402787:L343F	ENSP00000261991:L343F	L	-	3	2	RPS6KA5	90438995	0.999000	0.42202	0.384000	0.26145	0.102000	0.19082	0.658000	0.24979	-0.405000	0.07599	-0.371000	0.07208	TTA		PASS	0.418	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		33	120	33	120	---	---	---	---
TRIP11	9321	broad.mit.edu	37	14	92480787	92480787	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr14:92480787T>C	ENST00000267622.4	-	7	1331	c.958A>G	c.(958-960)Aaa>Gaa	p.K320E		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	320					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.K320E(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		Gataattttttatttatatct	0.284			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(958-960)AAA>GAA		thyroid hormone receptor interactor 11							35.0	35.0	35.0					14																	92480787		2200	4293	6493	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92480787T>C	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.958A>G	14.37:g.92480787T>C	ENSP00000267622:p.Lys320Glu					TRIP11_uc010auf.1_Missense_Mutation_p.K85E	p.K320E	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	7	1746	-			320			Potential.		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.958A>G	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	T	12.06	1.823830	0.32237	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.62105	0.05	4.97	-5.38	0.02673	.	0.542880	0.19805	N	0.105680	T	0.43366	0.1244	L	0.56769	1.78	0.09310	N	0.999998	B;B	0.09022	0.0;0.002	B;B	0.09377	0.002;0.004	T	0.51012	-0.8759	10	0.02654	T	1	.	8.3871	0.32508	0.0:0.2364:0.4493:0.3143	.	85;320	F5H1Z0;Q15643	.;TRIPB_HUMAN	E	320;85	ENSP00000267622:K320E	ENSP00000267622:K320E	K	-	1	0	TRIP11	91550540	0.002000	0.14202	0.025000	0.17156	0.962000	0.63368	-1.103000	0.03329	-0.549000	0.06191	0.454000	0.30748	AAA		PASS	0.284	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			5	90	5	90	---	---	---	---
IGHV3-48	28424	broad.mit.edu	37	14	106993807	106993807	+	RNA	SNP	C	C	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr14:106993807C>A	ENST00000390624.2	-	0	430									immunoglobulin heavy variable 3-48																		CCTCCCCTCACTGTGTCTCTC	0.572																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							108.0	115.0	113.0					14																	106993807		1890	4088	5978			8755							g.chr14:106993807C>A	M99675		14q32.33	2012-02-08			ENSG00000211964	ENSG00000211964		"""Immunoglobulins / IGH locus"""	5606	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151959		14.37:g.106993807C>A														187		-									RNA	SNP	ENST00000390624.2	37	c.8640G>T																																																																																					PASS	0.572	IGHV3-48-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324605.1	NG_001019		59	153	59	153	---	---	---	---
OR4N4	283694	broad.mit.edu	37	15	22383115	22383115	+	Silent	SNP	C	C	T	rs201021014		TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr15:22383115C>T	ENST00000328795.4	+	1	734	c.643C>T	c.(643-645)Ctg>Ttg	p.L215L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L215L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTGGGGCTTCTGGCTTCCTA	0.517																																						uc001yuc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(643-645)CTG>TTG		olfactory receptor, family 4, subfamily N,							146.0	119.0	128.0					15																	22383115		2194	4261	6455	SO:0001819	synonymous_variant	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22383115C>T	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.643C>T	15.37:g.22383115C>T						LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Silent_p.L215L	p.L215L	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	7	1624	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	215			Helical; Name=5; (Potential).		Q6IEY3|Q6IF56	Silent	SNP	ENST00000328795.4	37	c.643C>T	CCDS32173.1																																																																																				PASS	0.517	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			14	119	14	119	---	---	---	---
SPTBN5	51332	broad.mit.edu	37	15	42158429	42158429	+	Splice_Site	SNP	T	T	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr15:42158429T>A	ENST00000320955.6	-	38	6858		c.e38-2		MIR4310_ENST00000582950.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5						actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)	p.?(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTCTCCCTTCTGGAGGGAGAG	0.647																																						uc001zos.2																			1	Unknown(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.e38-1		spectrin, beta, non-erythrocytic 5							16.0	19.0	18.0					15																	42158429		2028	4170	6198	SO:0001630	splice_region_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42158429T>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.6631-2A>T	15.37:g.42158429T>A							p.K2176_splice	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	38	6859	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)							Splice_Site	SNP	ENST00000320955.6	37	c.6526_splice		.	.	.	.	.	.	.	.	.	.	T	15.47	2.844027	0.51164	.	.	ENSG00000137877	ENST00000320955	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7976	0.57567	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPTBN5	39945721	0.998000	0.40836	0.043000	0.18650	0.344000	0.29017	3.627000	0.54252	1.667000	0.50832	0.459000	0.35465	.		PASS	0.647	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642	Intron	6	18	6	18	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54799355	54799355	+	Nonsense_Mutation	SNP	C	C	G			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr15:54799355C>G	ENST00000260323.11	+	22	5342	c.5342C>G	c.(5341-5343)tCa>tGa	p.S1781*	UNC13C_ENST00000537900.1_Nonsense_Mutation_p.S1779*|UNC13C_ENST00000545554.1_Nonsense_Mutation_p.S1781*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1781					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.S1781*(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)		GCAATTGTATCAAGTGATTTC	0.323																																						uc002ack.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(5341-5343)TCA>TGA		unc-13 homolog C							88.0	83.0	85.0					15																	54799355		1838	4096	5934	SO:0001587	stop_gained	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54799355C>G	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.5342C>G	15.37:g.54799355C>G	ENSP00000260323:p.Ser1781*						p.S1781*	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	21	5342	+			1781					Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP	ENST00000260323.11	37	c.5342C>G	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	35	5.573104	0.96553	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	5.74	4.81	0.61882	.	0.321794	0.33691	N	0.004654	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	15.167	0.72837	0.142:0.858:0.0:0.0	.	.	.	.	X	1781;1781;1779	.	ENSP00000260323:S1781X	S	+	2	0	UNC13C	52586647	0.971000	0.33674	0.078000	0.20375	0.990000	0.78478	3.894000	0.56250	1.405000	0.46838	0.558000	0.71614	TCA		PASS	0.323	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		3	26	3	26	---	---	---	---
BNC1	646	broad.mit.edu	37	15	83935686	83935686	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr15:83935686C>A	ENST00000345382.2	-	3	422	c.337G>T	c.(337-339)Gac>Tac	p.D113Y	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.D106Y	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	113					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	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.D113Y(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AAGAGCCGGTCCAGTAGGATT	0.502																																						uc002bjt.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(337-339)GAC>TAC		basonuclin 1							121.0	113.0	116.0					15																	83935686		2203	4300	6503	SO:0001583	missense	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83935686C>A	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.337G>T	15.37:g.83935686C>A	ENSP00000307041:p.Asp113Tyr					BNC1_uc010uos.1_Missense_Mutation_p.D101Y	p.D113Y	NM_001717	NP_001708	Q01954	BNC1_HUMAN			3	425	-			113					Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.337G>T	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966817	0.92855	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	D	0.86230	-2.09	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.93556	0.7943	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93593	0.6923	10	0.87932	D	0	-44.0911	19.614	0.95622	0.0:1.0:0.0:0.0	.	106;113	F5GY04;Q01954	.;BNC1_HUMAN	Y	113;106	ENSP00000307041:D113Y	ENSP00000307041:D113Y	D	-	1	0	BNC1	81726690	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	7.573000	0.82421	2.873000	0.98535	0.561000	0.74099	GAC		PASS	0.502	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		18	129	18	129	---	---	---	---
LONP2	83752	broad.mit.edu	37	16	48295410	48295410	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr16:48295410A>T	ENST00000285737.4	+	5	892	c.799A>T	c.(799-801)Aat>Tat	p.N267Y	LONP2_ENST00000535754.1_Missense_Mutation_p.N223Y	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal									p.N267Y(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGATGAAGATAATGATGACAT	0.338																																						uc002efi.1																			1	Substitution - Missense(1)		lung(1)		0						c.(799-801)AAT>TAT		peroxisomal LON protease-like							151.0	149.0	150.0					16																	48295410		2200	4300	6500	SO:0001583	missense	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48295410A>T	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.799A>T	16.37:g.48295410A>T	ENSP00000285737:p.Asn267Tyr					LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.N223Y	p.N267Y	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN			5	888	+			267						Missense_Mutation	SNP	ENST00000285737.4	37	c.799A>T	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	A	13.87	2.366030	0.41902	.	.	ENSG00000102910	ENST00000285737;ENST00000535754;ENST00000416006	T;T	0.31247	1.5;1.51	5.88	4.78	0.61160	.	0.542799	0.22644	N	0.057413	T	0.23886	0.0578	L	0.35854	1.095	0.27835	N	0.941329	B;B	0.18461	0.028;0.028	B;B	0.18263	0.021;0.021	T	0.18272	-1.0342	10	0.62326	D	0.03	-23.107	7.8652	0.29533	0.5502:0.3327:0.0:0.1171	.	223;267	B7ZKL7;Q86WA8	.;LONP2_HUMAN	Y	267;223;223	ENSP00000285737:N267Y;ENSP00000445426:N223Y	ENSP00000285737:N267Y	N	+	1	0	LONP2	46852911	1.000000	0.71417	0.888000	0.34837	0.995000	0.86356	2.399000	0.44495	1.032000	0.39892	0.482000	0.46254	AAT		PASS	0.338	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		37	217	37	217	---	---	---	---
CDH11	1009	broad.mit.edu	37	16	65016007	65016007	+	Silent	SNP	G	G	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr16:65016007G>A	ENST00000268603.4	-	8	1812	c.1197C>T	c.(1195-1197)ggC>ggT	p.G399G	CDH11_ENST00000394156.3_Silent_p.G399G|CDH11_ENST00000566827.1_Silent_p.G273G	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	399	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G399G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CAACCACGGTGCCAGCAGCTG	0.493			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.2				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		1	Substitution - coding silent(1)		lung(1)	lung(10)|ovary(3)|skin(1)	14						c.(1195-1197)GGC>GGT		cadherin 11, type 2 preproprotein							133.0	119.0	124.0					16																	65016007		2203	4300	6503	SO:0001819	synonymous_variant	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65016007G>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1197C>T	16.37:g.65016007G>A		TSP Lung(24;0.17)				CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Silent_p.G399G|CDH11_uc010vin.1_Silent_p.G273G|CDH11_uc002eok.1_RNA	p.G399G	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	8	1631	-		Ovarian(137;0.0973)	399			Cadherin 4.|Extracellular (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	c.1197C>T	CCDS10803.1																																																																																				PASS	0.493	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		28	192	28	192	---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77355045	77355045	+	Missense_Mutation	SNP	C	C	A	rs199599392		TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr16:77355045C>A	ENST00000282849.5	-	15	2636	c.2218G>T	c.(2218-2220)Gtt>Ttt	p.V740F		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	740	Cys-rich.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V740F(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CCTTTGCAAACGCCACAAGCA	0.383																																						uc002ffc.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(2218-2220)GTT>TTT		ADAM metallopeptidase with thrombospondin type 1							115.0	114.0	114.0					16																	77355045		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77355045C>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2218G>T	16.37:g.77355045C>A	ENSP00000282849:p.Val740Phe					ADAMTS18_uc010chc.1_Missense_Mutation_p.V328F|ADAMTS18_uc002ffe.1_Missense_Mutation_p.V436F	p.V740F	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			15	2637	-			740			Cys-rich.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.2218G>T	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755602	0.49362	.	.	ENSG00000140873	ENST00000282849	T	0.71698	-0.59	5.71	0.657	0.17850	.	0.457645	0.22134	N	0.064150	D	0.83866	0.5347	H	0.97491	4.015	0.39201	D	0.963139	P;B	0.48162	0.906;0.22	P;B	0.51866	0.682;0.131	D	0.86724	0.1944	10	0.87932	D	0	.	10.3397	0.43870	0.0:0.7009:0.0:0.2991	.	740;740	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	F	740	ENSP00000282849:V740F	ENSP00000282849:V740F	V	-	1	0	ADAMTS18	75912546	0.841000	0.29509	0.980000	0.43619	0.981000	0.71138	1.622000	0.36997	0.260000	0.21731	0.655000	0.94253	GTT		PASS	0.383	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			23	182	23	182	---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77375655	77375655	+	Missense_Mutation	SNP	C	C	G	rs373068752		TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr16:77375655C>G	ENST00000282849.5	-	11	2074	c.1656G>C	c.(1654-1656)agG>agC	p.R552S		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	552	Disintegrin.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R552S(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGGTCTCACACCTGTGGCCTA	0.398																																						uc002ffc.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(1654-1656)AGG>AGC		ADAM metallopeptidase with thrombospondin type 1							91.0	83.0	85.0					16																	77375655		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77375655C>G	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1656G>C	16.37:g.77375655C>G	ENSP00000282849:p.Arg552Ser					ADAMTS18_uc010chc.1_Missense_Mutation_p.R140S|ADAMTS18_uc002ffe.1_Missense_Mutation_p.R248S	p.R552S	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			11	2075	-			552			Disintegrin.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.1656G>C	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.888752	0.72524	.	.	ENSG00000140873	ENST00000282849	T	0.02121	4.44	5.82	-0.326	0.12698	.	0.000000	0.85682	D	0.000000	T	0.04318	0.0119	N	0.25201	0.72	0.49051	D	0.999744	B;D	0.62365	0.057;0.991	B;D	0.65684	0.054;0.937	T	0.44081	-0.9351	10	0.62326	D	0.03	.	10.2273	0.43233	0.0:0.5123:0.0:0.4877	.	552;552	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	S	552	ENSP00000282849:R552S	ENSP00000282849:R552S	R	-	3	2	ADAMTS18	75933156	0.912000	0.30974	0.999000	0.59377	0.981000	0.71138	-0.028000	0.12350	0.062000	0.16340	-0.345000	0.07892	AGG		PASS	0.398	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			8	73	8	73	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11648345	11648345	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr17:11648345G>T	ENST00000262442.4	+	31	6411	c.6343G>T	c.(6343-6345)Gtt>Ttt	p.V2115F	DNAH9_ENST00000454412.2_Missense_Mutation_p.V2115F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2115	AAA 2. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.V2115F(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CGAAGCTTTGGTTAGGAAGGC	0.517																																						uc002gne.2																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(6343-6345)GTT>TTT		dynein, axonemal, heavy chain 9 isoform 2							106.0	110.0	108.0					17																	11648345		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11648345G>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6343G>T	17.37:g.11648345G>T	ENSP00000262442:p.Val2115Phe					DNAH9_uc010coo.2_Missense_Mutation_p.V1409F	p.V2115F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	31	6411	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2115			AAA 2 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.6343G>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719302	0.89205	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.44881	0.91;0.91	5.46	5.46	0.80206	.	0.251271	0.32041	N	0.006672	T	0.69006	0.3063	M	0.83953	2.67	0.80722	D	1	D	0.63880	0.993	D	0.71414	0.973	T	0.73594	-0.3933	10	0.87932	D	0	.	19.3688	0.94475	0.0:0.0:1.0:0.0	.	2115	Q9NYC9	DYH9_HUMAN	F	2115;2115;697	ENSP00000262442:V2115F;ENSP00000414874:V2115F	ENSP00000262442:V2115F	V	+	1	0	DNAH9	11589070	1.000000	0.71417	0.992000	0.48379	0.742000	0.42306	7.897000	0.87356	2.565000	0.86533	0.650000	0.86243	GTT		PASS	0.517	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		15	81	15	81	---	---	---	---
TRIM16L	147166	broad.mit.edu	37	17	18634465	18634465	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr17:18634465G>A	ENST00000449552.2	+	5	1768	c.284G>A	c.(283-285)cGc>cAc	p.R95H	TRIM16L_ENST00000395671.4_Missense_Mutation_p.R95H|TRIM16L_ENST00000571708.1_Missense_Mutation_p.R95H|TRIM16L_ENST00000395672.2_Missense_Mutation_p.R95H|TRIM16L_ENST00000395902.3_Missense_Mutation_p.R149H|TRIM16L_ENST00000414850.2_Intron|TRIM16L_ENST00000572555.1_Missense_Mutation_p.R95H			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	95						cytoplasm (GO:0005737)		p.R95H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						TCGGGCATCCGCAAAGTTATC	0.443																																						uc002gug.1																			1	Substitution - Missense(1)		lung(1)		0						c.(283-285)CGC>CAC		tripartite motif-containing 16-like							82.0	75.0	77.0					17																	18634465		2202	4300	6502	SO:0001583	missense	147166					cytoplasm		g.chr17:18634465G>A	DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"""tripartite motif-containing 16-like"""				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.284G>A	17.37:g.18634465G>A	ENSP00000461386:p.Arg95His					TRIM16L_uc010vyf.1_Missense_Mutation_p.R149H|TRIM16L_uc002guh.1_Missense_Mutation_p.R95H|TRIM16L_uc010cqg.1_Missense_Mutation_p.R197H|TRIM16L_uc002gui.1_Missense_Mutation_p.R95H|TRIM16L_uc010vyg.1_Missense_Mutation_p.R95H|TRIM16L_uc010vyh.1_Intron	p.R95H	NM_001037330	NP_001032407	Q309B1	TR16L_HUMAN			8	971	+			95					A0PK10|B2RUW6|B4DQK2|B4DWQ8	Missense_Mutation	SNP	ENST00000449552.2	37	c.284G>A	CCDS32588.1	.	.	.	.	.	.	.	.	.	.	g	6.943	0.543701	0.13250	.	.	ENSG00000108448	ENST00000395902;ENST00000395672;ENST00000395671	T;T;T	0.69306	-0.39;-0.35;-0.35	3.34	1.08	0.20341	.	0.505333	0.19169	U	0.120992	T	0.46464	0.1394	L	0.27053	0.805	0.27535	N	0.950972	B;B;B	0.16603	0.018;0.018;0.018	B;B;B	0.10450	0.005;0.004;0.005	T	0.34279	-0.9835	10	0.48119	T	0.1	-15.3991	4.4089	0.11423	0.4614:0.0:0.5386:0.0	.	149;311;95	B4DE22;B3KMJ2;Q309B1	.;.;TR16L_HUMAN	H	149;95;95	ENSP00000379239:R149H;ENSP00000379031:R95H;ENSP00000379030:R95H	ENSP00000379030:R95H	R	+	2	0	TRIM16L	18575190	0.986000	0.35501	1.000000	0.80357	0.454000	0.32378	1.469000	0.35343	0.609000	0.30018	0.405000	0.27470	CGC		PASS	0.443	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130670.3	NM_001037330		4	125	4	125	---	---	---	---
HOXB7	3217	broad.mit.edu	37	17	46685369	46685369	+	Silent	SNP	C	C	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr17:46685369C>A	ENST00000239165.7	-	2	587	c.489G>T	c.(487-489)acG>acT	p.T163T	HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000494420.1_RNA|HOXB-AS3_ENST00000491264.1_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB7_ENST00000567101.2_5'UTR	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	163					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T163T(2)		NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						GCCGCCGCCGCGTCAGGTAGC	0.557																																						uc002inv.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)		0						c.(487-489)ACG>ACT		homeobox B7							96.0	97.0	97.0					17																	46685369		2203	4300	6503	SO:0001819	synonymous_variant	3217					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46685369C>A		CCDS11532.1	17q21.32	2013-05-22	2005-12-22					"""Homeoboxes / ANTP class : HOXL subclass"""	5118	protein-coding gene	gene with protein product		142962	"""homeo box B7"""	HOX2, HOX2C		1973146, 1358459	Standard	NM_004502		Approved		uc002inv.3	P09629	OTTHUMG00000170231	ENST00000239165.7:c.489G>T	17.37:g.46685369C>A							p.T163T	NM_004502	NP_004493	P09629	HXB7_HUMAN			2	592	-			163			Homeobox.		A8K3N8|Q15957|Q53FN3|Q96BQ6	Silent	SNP	ENST00000239165.7	37	c.489G>T	CCDS11532.1																																																																																				PASS	0.557	HOXB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358097.3			15	149	15	149	---	---	---	---
HOXB7	3217	broad.mit.edu	37	17	46685422	46685422	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr17:46685422G>A	ENST00000239165.7	-	2	534	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C	HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000494420.1_RNA|HOXB-AS3_ENST00000491264.1_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB7_ENST00000567101.2_5'UTR	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	146					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R146C(1)		NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						GTCTGGTAGCGGGTGTAGGTC	0.592																																						uc002inv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(436-438)CGC>TGC		homeobox B7							68.0	68.0	68.0					17																	46685422		2203	4300	6503	SO:0001583	missense	3217					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46685422G>A		CCDS11532.1	17q21.32	2013-05-22	2005-12-22					"""Homeoboxes / ANTP class : HOXL subclass"""	5118	protein-coding gene	gene with protein product		142962	"""homeo box B7"""	HOX2, HOX2C		1973146, 1358459	Standard	NM_004502		Approved		uc002inv.3	P09629	OTTHUMG00000170231	ENST00000239165.7:c.436C>T	17.37:g.46685422G>A	ENSP00000239165:p.Arg146Cys						p.R146C	NM_004502	NP_004493	P09629	HXB7_HUMAN			2	539	-			146			Homeobox.		A8K3N8|Q15957|Q53FN3|Q96BQ6	Missense_Mutation	SNP	ENST00000239165.7	37	c.436C>T	CCDS11532.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437481	0.43224	.	.	ENSG00000120087	ENST00000239165	D	0.96365	-3.99	4.58	4.58	0.56647	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.94725	0.8298	L	0.60012	1.86	0.80722	D	1	B	0.33103	0.397	B	0.37989	0.262	D	0.94313	0.7547	10	0.87932	D	0	.	10.5174	0.44898	0.0:0.0:0.6721:0.3279	.	146	P09629	HXB7_HUMAN	C	146	ENSP00000239165:R146C	ENSP00000239165:R146C	R	-	1	0	HOXB7	44040421	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.397000	0.52572	2.357000	0.79964	0.563000	0.77884	CGC		PASS	0.592	HOXB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358097.3			9	109	9	109	---	---	---	---
GH1	2688	broad.mit.edu	37	17	61995185	61995185	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr17:61995185C>T	ENST00000323322.5	-	4	433	c.391G>A	c.(391-393)Gcc>Acc	p.A131T	GH1_ENST00000458650.2_Missense_Mutation_p.A116T|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000351388.4_Missense_Mutation_p.A91T|GH1_ENST00000342364.4_Intron	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	131					bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)	p.A131T(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						CTGTCAGAGGCGCCGTACACC	0.612																																						uc002jdj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(391-393)GCC>ACC		growth hormone 1 isoform 1							66.0	65.0	66.0					17																	61995185		2203	4300	6503	SO:0001583	missense	2688				glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	g.chr17:61995185C>T	M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"""Endogenous ligands"""	4261	protein-coding gene	gene with protein product	"""pituitary growth hormone"", ""somatotropin"""	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.391G>A	17.37:g.61995185C>T	ENSP00000312673:p.Ala131Thr					GH1_uc002jdi.2_Missense_Mutation_p.A116T|GH1_uc002jdk.2_Missense_Mutation_p.A91T|GH1_uc002jdl.2_Intron|GH1_uc002jdm.2_Intron|GH1_uc002jdn.2_Intron	p.A131T	NM_000515	NP_000506	P01241	SOMA_HUMAN			4	453	-			131					A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Missense_Mutation	SNP	ENST00000323322.5	37	c.391G>A	CCDS11653.1	.	.	.	.	.	.	.	.	.	.	c	0.004	-2.280955	0.00254	.	.	ENSG00000204414	ENST00000323322;ENST00000458650;ENST00000351388	D;D;D	0.88818	-2.1;-2.1;-2.43	2.86	0.524	0.17066	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.406938	0.25741	N	0.028605	T	0.62332	0.2419	N	0.01140	-0.99	0.58432	D	0.999998	B;B;B	0.09022	0.0;0.002;0.001	B;B;B	0.09377	0.001;0.004;0.004	T	0.57493	-0.7802	10	0.02654	T	1	.	6.5525	0.22442	0.0:0.1944:0.0:0.8056	.	91;131;116	A6NEF6;P01241;B1A4G7	.;SOMA_HUMAN;.	T	131;116;91	ENSP00000312673:A131T;ENSP00000408486:A116T;ENSP00000343791:A91T	ENSP00000312673:A131T	A	-	1	0	GH1	59348917	1.000000	0.71417	0.645000	0.29479	0.001000	0.01503	2.078000	0.41567	-0.046000	0.13446	-1.261000	0.01458	GCC		PASS	0.612	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1	NM_000515		21	106	21	106	---	---	---	---
SLC39A11	201266	broad.mit.edu	37	17	71027694	71027694	+	Splice_Site	SNP	C	C	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr17:71027694C>A	ENST00000542342.2	-	4	395		c.e4+1		SLC39A11_ENST00000579732.1_Splice_Site|SLC39A11_ENST00000255559.3_Splice_Site	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11						zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.?(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GTGGTACTCACCAAGTGAGGC	0.493																																					NSCLC(95;736 1527 12296 39625 41839)	uc002jjb.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e4+1		solute carrier family 39, member 11 isoform 1							73.0	72.0	73.0					17																	71027694		2203	4300	6503	SO:0001630	splice_region_variant	201266				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr17:71027694C>A	AF331643	CCDS11690.1, CCDS54160.1	17q24.3-q25.1	2014-08-12	2013-07-17	2003-10-24	ENSG00000133195	ENSG00000133195		"""Solute carriers"""	14463	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 26"""	C17orf26		11707075	Standard	NM_139177		Approved		uc002jjb.3	Q8N1S5	OTTHUMG00000178306	ENST00000542342.2:c.306+1G>T	17.37:g.71027694C>A						SLC39A11_uc002jja.2_Splice_Site_p.L102_splice|SLC39A11_uc002jjc.1_Splice_Site_p.L102_splice	p.L102_splice	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN			4	421	-								B2R8H7|Q8WZ81	Splice_Site	SNP	ENST00000542342.2	37	c.306_splice	CCDS54160.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219670	0.79464	.	.	ENSG00000133195	ENST00000542342;ENST00000255559	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6607	0.88192	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC39A11	68539289	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	6.752000	0.74898	2.514000	0.84764	0.655000	0.94253	.		PASS	0.493	SLC39A11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441442.1		Intron	6	74	6	74	---	---	---	---
ASPSCR1	79058	broad.mit.edu	37	17	79974718	79974718	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr17:79974718C>T	ENST00000306739.4	+	14	1545	c.1448C>T	c.(1447-1449)cCa>cTa	p.P483L	ASPSCR1_ENST00000580534.1_Missense_Mutation_p.P431L|STRA13_ENST00000583767.1_5'Flank|ASPSCR1_ENST00000582404.1_3'UTR|ASPSCR1_ENST00000306729.7_Missense_Mutation_p.P577L	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	483					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)		p.P577L(1)	ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCCATCTCCCCATCTGCGGCC	0.662			T	TFE3	alveolar soft part sarcoma																																	uc002kcx.2				Dom	yes		17	17q25	79058	T	"""alveolar soft part sarcoma chromosome region, candidate 1"""			M	TFE3		alveolar soft part sarcoma	ASPSCR1/TFE3(161)	1	Substitution - Missense(1)		lung(1)	soft_tissue(118)|kidney(43)|breast(1)	162						c.(1447-1449)CCA>CTA		alveolar soft part sarcoma chromosome region,							51.0	49.0	50.0					17																	79974718		2201	4300	6501	SO:0001583	missense	79058						protein binding	g.chr17:79974718C>T	AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"""UBX domain containing"""	13825	protein-coding gene	gene with protein product	"""UBX domain protein 9"""	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.1448C>T	17.37:g.79974718C>T	ENSP00000302176:p.Pro483Leu					ASPSCR1_uc002kcw.1_Missense_Mutation_p.P483L|ASPSCR1_uc002kcy.2_Missense_Mutation_p.P577L|ASPSCR1_uc002kcz.2_Missense_Mutation_p.P377L|ASPSCR1_uc002kda.2_Missense_Mutation_p.P431L	p.P483L	NM_024083	NP_076988	Q9BZE9	ASPC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		14	1545	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		483					A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Missense_Mutation	SNP	ENST00000306739.4	37	c.1448C>T	CCDS11796.1	.	.	.	.	.	.	.	.	.	.	C	9.068	0.996061	0.19043	.	.	ENSG00000169696	ENST00000306739;ENST00000306729	T;T	0.37752	1.84;1.18	3.92	3.92	0.45320	.	0.225181	0.37577	N	0.002032	T	0.59783	0.2219	M	0.78916	2.43	0.42241	D	0.991937	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.974;0.998;0.963	T	0.64694	-0.6347	9	.	.	.	-16.2776	14.2662	0.66121	0.0:1.0:0.0:0.0	.	431;577;483	Q9BZE9-3;Q9BZE9-2;Q9BZE9	.;.;ASPC1_HUMAN	L	483;577	ENSP00000302176:P483L;ENSP00000306625:P577L	.	P	+	2	0	ASPSCR1	77568007	0.970000	0.33590	0.549000	0.28204	0.026000	0.11368	3.296000	0.51802	2.006000	0.58801	0.563000	0.77884	CCA		PASS	0.662	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083		4	38	4	38	---	---	---	---
ATP8B1	5205	broad.mit.edu	37	18	55355660	55355660	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr18:55355660C>A	ENST00000283684.4	-	12	1299	c.1300G>T	c.(1300-1302)Gca>Tca	p.A434S	RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.A434S			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	434					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A434S(1)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CTAGCTTTTGCGGGTGTGTCC	0.443																																						uc002lgw.2																			1	Substitution - Missense(1)		lung(1)	breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10						c.(1300-1302)GCA>TCA		ATPase, class I, type 8B, member 1							272.0	247.0	255.0					18																	55355660		2203	4300	6503	SO:0001583	missense	5205	Byler_disease			ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55355660C>A	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.1300G>T	18.37:g.55355660C>A	ENSP00000283684:p.Ala434Ser					uc002lgv.1_Intron	p.A434S	NM_005603	NP_005594	O43520	AT8B1_HUMAN			12	1300	-		Colorectal(73;0.229)	434			Cytoplasmic (Potential).		Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.1300G>T	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.782398	0.70222	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	D;D	0.91011	-2.77;-2.77	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.96658	0.8909	M	0.92219	3.285	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.96939	0.9686	10	0.62326	D	0.03	.	19.3348	0.94312	0.0:1.0:0.0:0.0	.	434	O43520	AT8B1_HUMAN	S	434	ENSP00000283684:A434S;ENSP00000445359:A434S	ENSP00000283684:A434S	A	-	1	0	ATP8B1	53506658	1.000000	0.71417	0.322000	0.25334	0.351000	0.29236	5.777000	0.68931	2.660000	0.90430	0.655000	0.94253	GCA		PASS	0.443	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		40	187	40	187	---	---	---	---
EMR1	2015	broad.mit.edu	37	19	6897289	6897289	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr19:6897289G>T	ENST00000312053.4	+	4	405	c.368G>T	c.(367-369)gGa>gTa	p.G123V	EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000250572.8_Missense_Mutation_p.G123V|EMR1_ENST00000381404.4_Intron|AC020895.1_ENST00000580648.1_RNA|EMR1_ENST00000381407.5_Intron|EMR1_ENST00000450315.3_Missense_Mutation_p.G123V	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	123	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.G123V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGGGTCCCAGGAAAGCCGGGC	0.498																																						uc002mfw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(367-369)GGA>GTA		egf-like module containing, mucin-like, hormone							60.0	57.0	58.0					19																	6897289		2203	4300	6503	SO:0001583	missense	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6897289G>T	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.368G>T	19.37:g.6897289G>T	ENSP00000311545:p.Gly123Val					EMR1_uc010dvc.2_Missense_Mutation_p.G123V|EMR1_uc010dvb.2_Intron|EMR1_uc010xji.1_Intron|EMR1_uc010xjj.1_Missense_Mutation_p.G123V	p.G123V	NM_001974	NP_001965	Q14246	EMR1_HUMAN			4	406	+	all_hematologic(4;0.166)		123			Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.368G>T	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949452	0.34377	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000250572;ENST00000450315	T;T;T	0.81247	-1.42;-1.47;0.2	3.78	0.248	0.15526	EGF-like calcium-binding (1);	.	.	.	.	T	0.76709	0.4025	L	0.55990	1.75	0.09310	N	1	P;P;P	0.51057	0.855;0.893;0.941	P;P;P	0.49012	0.598;0.563;0.559	T	0.63980	-0.6514	9	0.28530	T	0.3	.	5.6758	0.17747	0.1132:0.389:0.4978:0.0	.	123;123;123	E7EPX9;Q14246-2;Q14246	.;.;EMR1_HUMAN	V	123	ENSP00000311545:G123V;ENSP00000250572:G123V;ENSP00000405974:G123V	ENSP00000250572:G123V	G	+	2	0	EMR1	6848289	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.363000	0.07593	-0.026000	0.13895	0.563000	0.77884	GGA		PASS	0.498	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			25	81	25	81	---	---	---	---
LRRC8E	80131	broad.mit.edu	37	19	7965541	7965541	+	Nonsense_Mutation	SNP	G	G	T	rs149479952		TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr19:7965541G>T	ENST00000306708.6	+	3	2235	c.2134G>T	c.(2134-2136)Gag>Tag	p.E712*	AC010336.1_ENST00000539278.1_5'UTR|RN7SL115P_ENST00000392196.5_RNA	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	712					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E712*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CAATGCCCTGGAGGCCCTGCC	0.647																																						uc002mir.2																			1	Substitution - Nonsense(1)		lung(1)	lung(1)|pancreas(1)	2						c.(2134-2136)GAG>TAG		leucine rich repeat containing 8 family, member							68.0	56.0	60.0					19																	7965541		2203	4300	6503	SO:0001587	stop_gained	80131					integral to membrane		g.chr19:7965541G>T		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.2134G>T	19.37:g.7965541G>T	ENSP00000306524:p.Glu712*						p.E712*	NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN			3	2235	+			712			LRR 9.		B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Nonsense_Mutation	SNP	ENST00000306708.6	37	c.2134G>T	CCDS12189.1	.	.	.	.	.	.	.	.	.	.	G	36	5.900111	0.97081	.	.	ENSG00000171017	ENST00000306708	.	.	.	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	14.3921	0.66986	0.0:0.0:1.0:0.0	.	.	.	.	X	712	.	ENSP00000306524:E712X	E	+	1	0	LRRC8E	7871541	1.000000	0.71417	0.793000	0.32043	0.234000	0.25298	6.546000	0.73887	2.269000	0.75478	0.585000	0.79938	GAG		PASS	0.647	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		4	121	4	121	---	---	---	---
HNRNPM	4670	broad.mit.edu	37	19	8550883	8550883	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr19:8550883G>A	ENST00000325495.4	+	14	1612	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	HNRNPM_ENST00000348943.3_Missense_Mutation_p.R485H	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	524	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)	p.R524H(1)		endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GCCATCGAGCGCATGGGCCTG	0.697																																						uc010dwe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1570-1572)CGC>CAC		heterogeneous nuclear ribonucleoprotein M							48.0	51.0	50.0					19																	8550883		2202	4298	6500	SO:0001583	missense	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8550883G>A	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.1571G>A	19.37:g.8550883G>A	ENSP00000325376:p.Arg524His					HNRNPM_uc010xke.1_Missense_Mutation_p.R470H|HNRNPM_uc010dwd.2_Missense_Mutation_p.R485H|HNRNPM_uc002mka.2_Missense_Mutation_p.R389H|HNRNPM_uc002mkb.1_5'Flank	p.R524H	NM_005968	NP_005959	P52272	HNRPM_HUMAN			14	1651	+			524			17.|27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.1571G>A	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889696	0.72524	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.48522	0.81;1.14	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.69178	0.3082	M	0.70595	2.14	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;0.991;0.999;1.0	D;P;D;D	0.85130	0.987;0.511;0.937;0.997	T	0.71912	-0.4449	10	0.72032	D	0.01	.	17.8127	0.88620	0.0:0.0:1.0:0.0	.	364;524;485;409	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	H	524;485;409;81	ENSP00000325376:R524H;ENSP00000325732:R485H	ENSP00000325376:R524H	R	+	2	0	HNRNPM	8456883	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.156000	0.77453	2.537000	0.85549	0.591000	0.81541	CGC		PASS	0.697	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			4	95	4	95	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9063188	9063188	+	Silent	SNP	T	T	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr19:9063188T>A	ENST00000397910.4	-	3	24461	c.24258A>T	c.(24256-24258)ccA>ccT	p.P8086P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8088	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.P8086P(2)|p.P3719P(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						TAATAACCATTGGAGATGTGA	0.473																																						uc002mkp.2																			3	Substitution - coding silent(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(24256-24258)CCA>CCT		mucin 16							112.0	109.0	110.0					19																	9063188		2085	4228	6313	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9063188T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24258A>T	19.37:g.9063188T>A							p.P8086P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	24462	-			8088			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.24258A>T	CCDS54212.1																																																																																				PASS	0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		20	93	20	93	---	---	---	---
DDA1	79016	broad.mit.edu	37	19	17426741	17426741	+	Splice_Site	SNP	A	A	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr19:17426741A>T	ENST00000359866.4	+	4	260		c.e4-1			NM_024050.5	NP_076955.1	Q9BW61	DDA1_HUMAN	DET1 and DDB1 associated 1									p.?(1)		kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						TTTCCTCCTTAGTCATCGTGA	0.567																																						uc002ngd.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e4-2		DET1 and DDB1 associated 1							239.0	243.0	242.0					19																	17426741		2203	4300	6503	SO:0001630	splice_region_variant	79016							g.chr19:17426741A>T	BC000615	CCDS12357.1	19p13.11	2008-02-05	2007-10-25	2007-10-25		ENSG00000130311			28360	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 58"""	C19orf58		17452440	Standard	NM_024050		Approved	PCIA1, MGC2594	uc002ngd.3	Q9BW61		ENST00000359866.4:c.137-1A>T	19.37:g.17426741A>T						DDA1_uc002nge.2_Splice_Site	p.I46_splice	NM_024050	NP_076955	Q9BW61	DDA1_HUMAN			4	264	+									Splice_Site	SNP	ENST00000359866.4	37	c.137_splice	CCDS12357.1	.	.	.	.	.	.	.	.	.	.	A	19.54	3.847325	0.71603	.	.	ENSG00000130311	ENST00000359866	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.737	0.51771	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDA1	17287741	1.000000	0.71417	0.977000	0.42913	0.862000	0.49288	8.923000	0.92808	1.675000	0.50919	0.459000	0.35465	.		PASS	0.567	DDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463519.1	NM_024050	Intron	109	474	109	474	---	---	---	---
KIAA1683	80726	broad.mit.edu	37	19	18377695	18377695	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr19:18377695T>C	ENST00000600328.3	-	3	848	c.655A>G	c.(655-657)Acc>Gcc	p.T219A	KIAA1683_ENST00000600359.3_Missense_Mutation_p.T173A|KIAA1683_ENST00000392413.4_Missense_Mutation_p.T219A			Q9H0B3	K1683_HUMAN	KIAA1683	219						mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.T219A(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GGCTCTGGGGTACCCTGAGCT	0.627																																						uc002nin.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(655-657)ACC>GCC		KIAA1683 isoform b							27.0	30.0	29.0					19																	18377695		2203	4298	6501	SO:0001583	missense	80726					mitochondrion		g.chr19:18377695T>C	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.655A>G	19.37:g.18377695T>C	ENSP00000470780:p.Thr219Ala					KIAA1683_uc010ebn.2_Missense_Mutation_p.T219A|KIAA1683_uc010xqe.1_Missense_Mutation_p.T173A	p.T219A	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN			3	871	-			219					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	c.655A>G	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	T	3.966	-0.009361	0.07727	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000358422;ENST00000411671	T;T;T	0.03441	3.98;3.99;3.93	2.49	-4.98	0.03019	.	.	.	.	.	T	0.01592	0.0051	N	0.12746	0.255	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.47535	-0.9110	9	0.18276	T	0.48	0.2849	1.4783	0.02431	0.2024:0.4112:0.1663:0.2201	.	219;219	E9PDE0;Q9H0B3	.;K1683_HUMAN	A	219;219;173;218;219	ENSP00000376213:T219A;ENSP00000352774:T219A;ENSP00000404501:T173A	ENSP00000351198:T218A	T	-	1	0	KIAA1683	18238695	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.181000	0.01257	-1.372000	0.02137	-0.605000	0.04089	ACC		PASS	0.627	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			22	48	22	48	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22155926	22155926	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr19:22155926T>C	ENST00000397126.4	-	4	2058	c.1910A>G	c.(1909-1911)tAc>tGc	p.Y637C	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	637					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Y537C(2)|p.Y637C(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTTACATTTGTAGGGCTTCTC	0.398																																						uc002nqp.2																			3	Substitution - Missense(3)		lung(3)	ovary(5)|skin(2)	7						c.(1609-1611)TAC>TGC		zinc finger protein 208							88.0	95.0	93.0					19																	22155926		2131	4253	6384	SO:0001583	missense	7757							g.chr19:22155926T>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1910A>G	19.37:g.22155926T>C	ENSP00000380315:p.Tyr637Cys					ZNF208_uc002nqo.1_Intron	p.Y537C	NM_007153	NP_009084					5	1759	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1610A>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	T	6.263	0.416716	0.11870	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.25414	1.8	2.51	2.51	0.30379	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43853	0.1266	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.14587	-1.0467	8	0.72032	D	0.01	.	5.6276	0.17490	0.2435:0.0:0.0:0.7565	.	537	O43345	ZN208_HUMAN	C	637;537	ENSP00000380315:Y637C	ENSP00000380315:Y637C	Y	-	2	0	ZNF208	21947766	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	-0.165000	0.09968	0.775000	0.33450	0.254000	0.18369	TAC		PASS	0.398	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		24	115	24	115	---	---	---	---
GRAMD1A	57655	broad.mit.edu	37	19	35505200	35505200	+	Silent	SNP	C	C	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr19:35505200C>T	ENST00000317991.5	+	10	1170	c.978C>T	c.(976-978)gaC>gaT	p.D326D	CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000411896.2_Silent_p.D319D|GRAMD1A_ENST00000599564.1_Silent_p.D413D|GRAMD1A_ENST00000504615.2_Silent_p.D92D	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	326						integral component of membrane (GO:0016021)		p.D326D(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCCAGCCTGACGGGCCCACCA	0.632																																						uc010xse.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(976-978)GAC>GAT		GRAM domain containing 1A isoform 1							59.0	71.0	67.0					19																	35505200		2014	4194	6208	SO:0001819	synonymous_variant	57655					integral to membrane		g.chr19:35505200C>T	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.978C>T	19.37:g.35505200C>T						GRAMD1A_uc002nxi.1_Silent_p.D413D|GRAMD1A_uc002nxk.2_Silent_p.D319D|GRAMD1A_uc002nxl.2_Silent_p.D92D|GRAMD1A_uc010xsf.1_Silent_p.D331D|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_5'Flank	p.D326D	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		10	1115	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		326					A6NKY7|Q8NC77|Q9P1Z5	Silent	SNP	ENST00000317991.5	37	c.978C>T	CCDS42546.1																																																																																				PASS	0.632	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		8	192	8	192	---	---	---	---
AKT2	208	broad.mit.edu	37	19	40761067	40761067	+	Silent	SNP	C	C	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr19:40761067C>T	ENST00000392038.2	-	4	583	c.285G>A	c.(283-285)gaG>gaA	p.E95E	AKT2_ENST00000424901.1_Silent_p.E95E|AKT2_ENST00000579047.1_Silent_p.E33E|AKT2_ENST00000311278.6_Silent_p.E95E	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	95	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)	p.E95E(1)		breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			AGACTGACCTCTCGTCTGGAG	0.567			A		"""ovarian, pancreatic """																																	uc002onf.2				Dom	yes		19	19q13.1-q13.2	208	A	v-akt murine thymoma viral oncogene homolog 2			E			ovarian|pancreatic 		1	Substitution - coding silent(1)		lung(1)	lung(2)	2						c.(283-285)GAG>GAA		AKT2 kinase							91.0	88.0	89.0					19																	40761067		2203	4300	6503	SO:0001819	synonymous_variant	208				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:40761067C>T	M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.285G>A	19.37:g.40761067C>T						AKT2_uc010egs.2_Silent_p.E95E|AKT2_uc010egt.2_Silent_p.E33E|AKT2_uc010xvj.1_Silent_p.E33E|AKT2_uc010egu.1_Silent_p.E33E|AKT2_uc010xvk.1_Silent_p.E95E	p.E95E	NM_001626	NP_001617	P31751	AKT2_HUMAN	Lung(22;0.000499)		4	547	-			95			PH.		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Silent	SNP	ENST00000392038.2	37	c.285G>A	CCDS12552.1																																																																																				PASS	0.567	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626		9	141	9	141	---	---	---	---
SYMPK	8189	broad.mit.edu	37	19	46357737	46357737	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr19:46357737C>T	ENST00000245934.7	-	2	261	c.17G>A	c.(16-18)gGa>gAa	p.G6E		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	6	Interaction with HSF1.				cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.G6E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GACGCTGTCTCCACTGCCGCT	0.617																																						uc002pdn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(16-18)GGA>GAA		symplekin							46.0	48.0	47.0					19																	46357737		2162	4261	6423	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46357737C>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.17G>A	19.37:g.46357737C>T	ENSP00000245934:p.Gly6Glu					SYMPK_uc002pdo.1_Missense_Mutation_p.G6E|SYMPK_uc002pdp.1_Missense_Mutation_p.G6E|SYMPK_uc002pdq.1_Missense_Mutation_p.G6E	p.G6E	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	2	262	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	6			Interaction with HSF1.		O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.17G>A	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113546	0.77210	.	.	ENSG00000125755	ENST00000245934;ENST00000340643	T	0.30182	1.54	5.04	5.04	0.67666	Armadillo-type fold (1);	0.284309	0.29948	N	0.010788	T	0.28034	0.0691	L	0.39898	1.24	0.31376	N	0.679574	D;D	0.54047	0.964;0.964	B;B	0.42112	0.376;0.376	T	0.37934	-0.9684	10	0.87932	D	0	.	13.8141	0.63281	0.0:1.0:0.0:0.0	.	21;6	Q4LE61;Q92797	.;SYMPK_HUMAN	E	6;10	ENSP00000245934:G6E	ENSP00000245934:G6E	G	-	2	0	SYMPK	51049577	0.907000	0.30839	0.998000	0.56505	0.711000	0.40976	2.973000	0.49264	2.644000	0.89710	0.644000	0.83932	GGA		PASS	0.617	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		6	66	6	66	---	---	---	---
CEACAM18	729767	broad.mit.edu	37	19	51981926	51981926	+	Silent	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr19:51981926G>T	ENST00000396477.4	+	1	51	c.30G>T	c.(28-30)ctG>ctT	p.L10L	CEACAM18_ENST00000451626.1_Silent_p.L71L	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	10								p.L71L(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GATGGAGCCTGTGGAGGAGGG	0.627																																						uc002pwv.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(211-213)CTG>CTT		carcinoembryonic antigen-related cell adhesion							29.0	32.0	31.0					19																	51981926		1950	4157	6107	SO:0001819	synonymous_variant	729767					integral to membrane		g.chr19:51981926G>T			19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.30G>T	19.37:g.51981926G>T							p.L71L	NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	2	213	+		all_neural(266;0.0529)	71					C9JN24	Silent	SNP	ENST00000396477.4	37	c.213G>T																																																																																					PASS	0.627	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2			5	55	5	55	---	---	---	---
LILRB3	11025	broad.mit.edu	37	19	54724576	54724576	+	Silent	SNP	C	C	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr19:54724576C>T	ENST00000391750.1	-	7	1216	c.1080G>A	c.(1078-1080)ggG>ggA	p.G360G	LILRA6_ENST00000440558.2_Silent_p.G360G|LILRB3_ENST00000424807.1_Silent_p.G360G|LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000270464.5_Silent_p.G360G|LILRB3_ENST00000407860.2_Silent_p.G360G|LILRB3_ENST00000245620.9_Silent_p.G360G|LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000346401.6_Silent_p.G360G			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	360	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.G360G(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GATGGGCTGCCCCTTCTTTGG	0.582																																						uc002qef.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(1078-1080)GGG>GGA		leukocyte immunoglobulin-like receptor,							92.0	70.0	78.0					19																	54724576		2196	4189	6385	SO:0001819	synonymous_variant	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54724576C>T	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1080G>A	19.37:g.54724576C>T						LILRB3_uc002qee.1_Silent_p.G360G|LILRB3_uc002qeh.1_Silent_p.G360G|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Silent_p.G360G|LILRA6_uc002qek.1_Intron|LILRB3_uc010erh.1_Silent_p.G360G|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Intron|LILRA6_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Silent_p.G360G|LILRB3_uc002qep.1_Silent_p.G360G|LILRB3_uc002qeq.1_Silent_p.G360G|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Silent_p.G360G|LILRA6_uc010yep.1_Intron|LILRA6_uc010yeq.1_Intron	p.G360G	NM_006864	NP_006855	O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	1191	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		360			Extracellular (Potential).|Ig-like C2-type 4.		C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	ENST00000391750.1	37	c.1080G>A	CCDS33105.1																																																																																				PASS	0.582	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		13	52	13	52	---	---	---	---
KIR2DL3	3804	broad.mit.edu	37	19	55263135	55263135	+	Silent	SNP	C	C	G	rs573888313		TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr19:55263135C>G	ENST00000342376.3	+	6	781	c.750C>G	c.(748-750)acC>acG	p.T250T	CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	250					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.T250T(1)		breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TGATTGGGACCTCAGTGGtca	0.468													.|||	1	0.000199681	0.0	0.0	5008	,	,		16214	0.001		0.0	False		,,,				2504	0.0					uc002qgv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(748-750)ACC>ACG		killer cell immunoglobulin-like receptor, two							173.0	147.0	156.0					19																	55263135		1424	2573	3997	SO:0001819	synonymous_variant	3804				immune response|regulation of immune response	integral to plasma membrane	antigen binding|protein binding|receptor activity	g.chr19:55263135C>G	L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.750C>G	19.37:g.55263135C>G						KIR2DL3_uc002qgx.2_Silent_p.T250T|KIR2DL3_uc002qgy.2_Silent_p.T152T|KIR2DL3_uc010erw.1_Silent_p.T250T|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron	p.T250T	NM_015868	NP_056952	P43628	KI2L3_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	6	768	+			250			Helical; (Potential).		O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Silent	SNP	ENST00000342376.3	37	c.750C>G	CCDS33107.1																																																																																				PASS	0.468	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1			6	204	6	204	---	---	---	---
ZNF211	10520	broad.mit.edu	37	19	58152510	58152510	+	Missense_Mutation	SNP	C	C	T	rs191070229	byFrequency	TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr19:58152510C>T	ENST00000347302.3	+	3	835	c.656C>T	c.(655-657)gCg>gTg	p.A219V	ZNF211_ENST00000541801.1_Missense_Mutation_p.A210V|ZNF211_ENST00000420680.1_Missense_Mutation_p.A223V|ZNF211_ENST00000391703.3_Missense_Mutation_p.A158V|ZNF211_ENST00000299871.5_Missense_Mutation_p.A284V|ZNF211_ENST00000254182.7_Missense_Mutation_p.A210V|ZNF211_ENST00000544273.1_Missense_Mutation_p.A231V|ZNF211_ENST00000240731.4_Missense_Mutation_p.A232V	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	219					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.A232V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AACAAGTGTGCGGTGGCCTTT	0.473													C|||	2	0.000399361	0.0	0.0	5008	,	,		21546	0.0		0.002	False		,,,				2504	0.0					uc002qpq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(655-657)GCG>GTG		zinc finger protein 211 isoform 2							60.0	61.0	61.0					19																	58152510		2203	4300	6503	SO:0001583	missense	10520					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58152510C>T	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.656C>T	19.37:g.58152510C>T	ENSP00000339562:p.Ala219Val					ZNF211_uc010yhb.1_Missense_Mutation_p.A223V|ZNF211_uc002qpp.2_Missense_Mutation_p.A232V|ZNF211_uc002qpr.2_Missense_Mutation_p.A283V|ZNF211_uc002qps.2_Missense_Mutation_p.A284V|ZNF211_uc002qpt.2_Missense_Mutation_p.A231V|ZNF211_uc010yhc.1_Missense_Mutation_p.A231V|ZNF211_uc010yhd.1_Missense_Mutation_p.A158V|ZNF211_uc010yhe.1_Missense_Mutation_p.A210V	p.A219V	NM_198855	NP_942152	Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	836	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	219					B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	c.656C>T	CCDS12957.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	0.018	-1.478997	0.01035	.	.	ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731	T;T;T;T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42	3.24	-6.49	0.01890	.	.	.	.	.	T	0.05686	0.0149	N	0.12746	0.255	0.09310	N	1	B;B;B;B;B;B	0.28178	0.009;0.004;0.001;0.202;0.002;0.002	B;B;B;B;B;B	0.15052	0.002;0.001;0.002;0.012;0.001;0.001	T	0.22556	-1.0213	9	0.37606	T	0.19	.	0.9109	0.01295	0.2927:0.1912:0.3258:0.1903	.	223;231;284;210;219;232	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1	.;.;.;.;ZN211_HUMAN;.	V	223;219;210;158;210;284;231;232	ENSP00000399193:A223V;ENSP00000339562:A219V;ENSP00000254182:A210V;ENSP00000375584:A158V;ENSP00000442601:A210V;ENSP00000299871:A284V;ENSP00000441386:A231V;ENSP00000240731:A232V	ENSP00000240731:A232V	A	+	2	0	ZNF211	62844322	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-2.308000	0.01131	-2.446000	0.00546	-1.221000	0.01599	GCG		PASS	0.473	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			22	101	22	101	---	---	---	---
PROKR2	128674	broad.mit.edu	37	20	5294767	5294767	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr20:5294767C>A	ENST00000217270.3	-	1	248	c.249G>T	c.(247-249)aaG>aaT	p.K83N	PROKR2_ENST00000546004.1_Missense_Mutation_p.K83N	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	83					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.K83N(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GGTTGCGCAACTTCTTATAGC	0.547										HNSCC(71;0.22)																												uc010zqw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(247-249)AAG>AAT		prokineticin receptor 2							192.0	150.0	164.0					20																	5294767		2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5294767C>A	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.249G>T	20.37:g.5294767C>A	ENSP00000217270:p.Lys83Asn	HNSCC(71;0.22)				PROKR2_uc010zqx.1_Missense_Mutation_p.K83N|PROKR2_uc010zqy.1_Missense_Mutation_p.K83N|uc002wly.1_5'Flank	p.K83N	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN			1	249	-			83			Cytoplasmic (Potential).		A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.249G>T	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585359	0.66105	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.73789	-0.78;-0.78	4.76	3.81	0.43845	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.80053	0.4553	L	0.53561	1.675	0.51482	D	0.999923	D	0.76494	0.999	D	0.72625	0.978	T	0.79269	-0.1873	10	0.59425	D	0.04	.	7.5785	0.27950	0.0:0.8046:0.0:0.1954	.	83	Q8NFJ6	PKR2_HUMAN	N	83	ENSP00000440790:K83N;ENSP00000217270:K83N	ENSP00000217270:K83N	K	-	3	2	PROKR2	5242767	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.282000	0.33226	1.119000	0.41883	0.655000	0.94253	AAG		PASS	0.547	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		25	89	25	89	---	---	---	---
TM9SF4	9777	broad.mit.edu	37	20	30747829	30747829	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr20:30747829G>T	ENST00000398022.2	+	16	1839	c.1604G>T	c.(1603-1605)gGc>gTc	p.G535V	TM9SF4_ENST00000217315.5_Missense_Mutation_p.G518V	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	535						integral component of membrane (GO:0016021)		p.G518V(1)		central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TACCTCTTTGGCTTCCTGTTC	0.532																																						uc002wxj.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(1603-1605)GGC>GTC		transmembrane 9 superfamily protein member 4							369.0	253.0	292.0					20																	30747829		2203	4300	6503	SO:0001583	missense	9777					integral to membrane		g.chr20:30747829G>T	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1604G>T	20.37:g.30747829G>T	ENSP00000381104:p.Gly535Val					TM9SF4_uc010zts.1_Missense_Mutation_p.G442V|TM9SF4_uc002wxk.2_Missense_Mutation_p.G518V|TM9SF4_uc010gdz.2_Missense_Mutation_p.G414V	p.G535V	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		16	1839	+			535					B0QYT7|Q9NUA3	Missense_Mutation	SNP	ENST00000398022.2	37	c.1604G>T	CCDS13196.2	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867791	0.91587	.	.	ENSG00000101337	ENST00000398022;ENST00000217315	T;T	0.62941	-0.01;-0.01	5.01	5.01	0.66863	.	0.118125	0.64402	D	0.000018	D	0.87022	0.6074	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.91626	0.5315	10	0.87932	D	0	-16.1741	18.5027	0.90888	0.0:0.0:1.0:0.0	.	442;535	B4DH88;Q92544	.;TM9S4_HUMAN	V	535;518	ENSP00000381104:G535V;ENSP00000217315:G518V	ENSP00000217315:G518V	G	+	2	0	TM9SF4	30211490	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.431000	0.97494	2.611000	0.88343	0.650000	0.86243	GGC		PASS	0.532	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		23	78	23	78	---	---	---	---
TP53TG5	27296	broad.mit.edu	37	20	44004180	44004180	+	Silent	SNP	G	G	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr20:44004180G>A	ENST00000372726.3	-	4	423	c.267C>T	c.(265-267)gcC>gcT	p.A89A	SYS1-DBNDD2_ENST00000475242.1_Intron|TP53TG5_ENST00000537995.1_Silent_p.A73A|TP53TG5_ENST00000494455.1_5'UTR|SYS1_ENST00000426004.1_3'UTR|SYS1-DBNDD2_ENST00000452133.1_Intron	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	89					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A89A(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						TTTTATTGCAGGCACTGTTTT	0.522																																						uc002xny.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(265-267)GCC>GCT		TP53-target gene 5 protein							73.0	81.0	79.0					20																	44004180		2194	4296	6490	SO:0001819	synonymous_variant	27296				intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus		g.chr20:44004180G>A	AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 10"""	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.267C>T	20.37:g.44004180G>A						SYS1_uc002xnw.1_3'UTR|SYS1-DBNDD2_uc002xnx.2_Intron	p.A89A	NM_014477	NP_055292	Q9Y2B4	T53G5_HUMAN			4	348	-			89						Silent	SNP	ENST00000372726.3	37	c.267C>T	CCDS13352.1																																																																																				PASS	0.522	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079460.1	NM_014477		22	206	22	206	---	---	---	---
ZFP64	55734	broad.mit.edu	37	20	50769440	50769440	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr20:50769440C>T	ENST00000216923.4	-	6	1640	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N	ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000346617.4_Missense_Mutation_p.D377N|ZFP64_ENST00000371515.4_Missense_Mutation_p.D429N	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	431					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.D431N(2)		breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AAGGAGGCATCGCATATATCG	0.562																																						uc002xwl.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1291-1293)GAT>AAT		zinc finger protein 64 isoform a							66.0	50.0	55.0					20																	50769440		2203	4300	6503	SO:0001583	missense	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50769440C>T	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.1291G>A	20.37:g.50769440C>T	ENSP00000216923:p.Asp431Asn					ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.D429N|ZFP64_uc002xwn.2_Missense_Mutation_p.D377N	p.D431N	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN			6	1640	-			431			C2H2-type 9.		Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	c.1291G>A	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.398807	0.25291	.	.	ENSG00000020256	ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;T	0.28454	1.61;1.61;1.61	5.38	4.45	0.53987	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.621864	0.15661	N	0.250922	T	0.27731	0.0682	N	0.25992	0.78	0.45015	D	0.99803	D;B;B	0.57899	0.981;0.393;0.393	P;B;B	0.45449	0.481;0.114;0.114	T	0.04242	-1.0966	10	0.56958	D	0.05	-7.0702	13.9743	0.64262	0.0:0.927:0.0:0.073	.	377;429;431	Q9NPA5-2;Q5JWM1;Q9NPA5	.;.;ZF64A_HUMAN	N	431;377;429;273;584	ENSP00000216923:D431N;ENSP00000344615:D377N;ENSP00000360570:D429N	ENSP00000216923:D431N	D	-	1	0	ZFP64	50202847	1.000000	0.71417	0.852000	0.33557	0.011000	0.07611	3.840000	0.55843	1.275000	0.44379	-0.218000	0.12543	GAT		PASS	0.562	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		7	61	7	61	---	---	---	---
TMPRSS15	5651	broad.mit.edu	37	21	19770581	19770581	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr21:19770581T>A	ENST00000284885.3	-	2	244	c.211A>T	c.(211-213)Aat>Tat	p.N71Y		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	71	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.N71Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AAATTAGGATTATATGTAACT	0.358																																						uc002ykw.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						c.(211-213)AAT>TAT		enterokinase precursor							78.0	80.0	80.0					21																	19770581		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19770581T>A		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.211A>T	21.37:g.19770581T>A	ENSP00000284885:p.Asn71Tyr						p.N71Y	NM_002772	NP_002763	P98073	ENTK_HUMAN			2	242	-			71			Extracellular (Potential).|SEA.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.211A>T	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.695120	0.68386	.	.	ENSG00000154646	ENST00000284885;ENST00000422787	T;T	0.39997	1.05;1.05	5.23	5.23	0.72850	SEA (3);	0.191825	0.45867	D	0.000329	T	0.49236	0.1545	L	0.51422	1.61	0.34026	D	0.653213	D	0.57571	0.98	P	0.55112	0.769	T	0.62053	-0.6935	9	.	.	.	.	11.4355	0.50066	0.0:0.0:0.0:1.0	.	71	P98073	ENTK_HUMAN	Y	71;26	ENSP00000284885:N71Y;ENSP00000398253:N26Y	.	N	-	1	0	TMPRSS15	18692452	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.513000	0.60476	2.203000	0.70933	0.523000	0.50628	AAT		PASS	0.358	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		25	94	25	94	---	---	---	---
CECR2	27443	broad.mit.edu	37	22	18028975	18028976	+	Missense_Mutation	DNP	CA	CA	AT	rs553870318		TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr22:18028975_18028976CA>AT	ENST00000400585.2	+	17	3944_3945	c.3506_3507CA>AT	c.(3505-3507)tCA>tAT	p.S1169Y	CECR2_ENST00000400573.5_Missense_Mutation_p.S1311Y|CECR2_ENST00000262608.8_Missense_Mutation_p.S1312Y			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1353					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)		p.S1311Y(1)|p.S1311S(1)|p.S1311*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GGATTTGGTTCATCTGCATTTC	0.574																																						uc010gqw.1																			3	Substitution - Nonsense(1)|Substitution - Missense(1)|Substitution - coding silent(1)		lung(3)	ovary(1)|skin(1)	2						c.(3931-3933)TCA>TAA|c.(3931-3933)TCA>TCT		cat eye syndrome chromosome region, candidate 2																																				SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18028975C>A|g.chr22:18028976A>T	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	Exception_encountered	22.37:g.18028975_18028976delinsAT	ENSP00000383428:p.Ser1169Tyr					CECR2_uc010gqv.1_Nonsense_Mutation_p.S1169*|CECR2_uc002zml.2_Nonsense_Mutation_p.S1170*|CECR2_uc002zmo.2_RNA|CECR2_uc010gqv.1_Silent_p.S1169S|CECR2_uc002zml.2_Silent_p.S1170S|CECR2_uc002zmo.2_RNA	p.S1311*|p.S1311S	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	16	4058|4059	+		all_epithelial(15;0.139)	1353					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Nonsense_Mutation|Silent	SNP	ENST00000400585.2	37	c.3932C>A|c.3933A>T																																																																																					PASS	0.574	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		57	122|121	57	121	---	---	---	---
PRAMENP	649179	broad.mit.edu	37	22	22385737	22385737	+	RNA	SNP	C	C	T	rs560151357		TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr22:22385737C>T	ENST00000337471.4	-	0	253				IGLV4-69_ENST00000390282.2_RNA					PRAME N-terminal-like, pseudogene																		TGATGGCAGCCACAGCAAGGG	0.602																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							75.0	81.0	79.0					22																	22385737		2082	4210	6292			96610							g.chr22:22385737C>T			22q11.22	2013-09-27	2013-09-27	2013-09-27	ENSG00000197549	ENSG00000197549		"""-"""	34302	pseudogene	pseudogene			"""preferentially expressed antigen in melanoma-like"", ""PRAME family member 24, pseudogene"""	PRAMEL, PRAMEF24P			Standard	XR_425303		Approved	FLJ16327			OTTHUMG00000150836		22.37:g.22385737C>T						uc002zvu.2_Intron								2		+									RNA	SNP	ENST00000337471.4	37	c.217C>T																																																																																					PASS	0.602	PRAMENP-001	KNOWN	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000320276.2			21	68	21	68	---	---	---	---
SH3BP1	23616	broad.mit.edu	37	22	38043285	38043285	+	Missense_Mutation	SNP	T	T	C	rs373445412		TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr22:38043285T>C	ENST00000357436.4	+	12	1361	c.1048T>C	c.(1048-1050)Tcc>Ccc	p.S350P	SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000599616.1_Missense_Mutation_p.S286P|SH3BP1_ENST00000442465.2_Missense_Mutation_p.S350P|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000336738.5_Missense_Mutation_p.S350P	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	350	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)	p.S350P(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					TGCCCTCAAGTCCTATCTGCG	0.622																																						uc003ati.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1048-1050)TCC>CCC		SH3-domain binding protein 1							110.0	112.0	111.0					22																	38043285		2203	4300	6503	SO:0001583	missense	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38043285T>C		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"""Rho GTPase activating proteins"""	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.1048T>C	22.37:g.38043285T>C	ENSP00000350018:p.Ser350Pro					SH3BP1_uc003atg.1_RNA|SH3BP1_uc011anl.1_Missense_Mutation_p.S350P|SH3BP1_uc003ath.1_Missense_Mutation_p.S350P|SH3BP1_uc003atj.1_Missense_Mutation_p.S286P|SH3BP1_uc003atk.1_Missense_Mutation_p.S264P|uc003atl.1_Intron	p.S350P	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN			12	1159	+	Melanoma(58;0.0574)		350			Rho-GAP.		Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Missense_Mutation	SNP	ENST00000357436.4	37	c.1048T>C	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	T	17.17	3.321781	0.60634	.	.	ENSG00000100092	ENST00000357436;ENST00000336738;ENST00000442465;ENST00000397014	T;T;T	0.19394	2.15;2.15;2.15	5.68	5.68	0.88126	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000005	T	0.57154	0.2034	H	0.94582	3.555	0.43667	D	0.99609	B;D;D;D;D	0.89917	0.05;0.987;0.999;1.0;0.987	B;P;D;D;P	0.76071	0.152;0.882;0.985;0.987;0.882	T	0.65685	-0.6108	10	0.28530	T	0.3	.	15.9266	0.79621	0.0:0.0:0.0:1.0	.	350;264;286;350;264	F5GZA8;E7EUD3;Q6ZT62;Q9Y3L3;Q6ZTJ5	.;.;.;3BP1_HUMAN;.	P	350;350;350;264	ENSP00000350018:S350P;ENSP00000337213:S350P;ENSP00000395126:S350P	ENSP00000337213:S350P	S	+	1	0	SH3BP1	36373231	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	8.031000	0.88826	2.177000	0.69029	0.402000	0.26972	TCC		PASS	0.622	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		17	235	17	235	---	---	---	---
MKL1	57591	broad.mit.edu	37	22	40814895	40814895	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr22:40814895G>A	ENST00000355630.3	-	12	2137	c.1547C>T	c.(1546-1548)gCg>gTg	p.A516V	MKL1_ENST00000407029.1_Missense_Mutation_p.A516V|MKL1_ENST00000396617.3_Missense_Mutation_p.A516V|MKL1_ENST00000402042.1_Missense_Mutation_p.A466V	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	516					negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.A516V(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CTCTAGCTCCGCCCGCCCCCC	0.682			T	RBM15	acute megakaryocytic leukemia																																	uc003ayv.1				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(1546-1548)GCG>GTG		megakaryoblastic leukemia 1 protein							26.0	31.0	29.0					22																	40814895		2202	4296	6498	SO:0001583	missense	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40814895G>A	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.1547C>T	22.37:g.40814895G>A	ENSP00000347847:p.Ala516Val					MKL1_uc003ayw.1_Missense_Mutation_p.A516V|MKL1_uc010gye.1_Missense_Mutation_p.A516V|MKL1_uc010gyf.1_Missense_Mutation_p.A466V	p.A516V	NM_020831	NP_065882	Q969V6	MKL1_HUMAN			9	1754	-			516			Potential.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.1547C>T	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901463	0.33535	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	T;T;T;T	0.43294	0.95;0.97;0.96;0.95	4.66	1.15	0.20763	.	0.631054	0.15036	N	0.284142	T	0.37265	0.0997	M	0.82517	2.595	0.09310	N	0.999997	B;P;P	0.41710	0.014;0.76;0.76	B;B;B	0.30251	0.005;0.113;0.113	T	0.27020	-1.0086	10	0.27785	T	0.31	-1.5417	9.8375	0.40977	0.0805:0.2796:0.6398:0.0	.	466;516;516	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	V	516;516;466;516	ENSP00000347847:A516V;ENSP00000379861:A516V;ENSP00000385584:A466V;ENSP00000385835:A516V	ENSP00000347847:A516V	A	-	2	0	MKL1	39144841	0.002000	0.14202	0.560000	0.28344	0.969000	0.65631	0.089000	0.15002	0.570000	0.29347	0.591000	0.81541	GCG		PASS	0.682	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		26	39	26	39	---	---	---	---
MKL1	57591	broad.mit.edu	37	22	40816853	40816853	+	Silent	SNP	T	T	C			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr22:40816853T>C	ENST00000355630.3	-	10	1469	c.879A>G	c.(877-879)ccA>ccG	p.P293P	MKL1_ENST00000407029.1_Silent_p.P293P|MKL1_ENST00000396617.3_Silent_p.P293P|MKL1_ENST00000402042.1_Silent_p.P243P	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	293					negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.P293P(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GTGCCTACTTTGGCGGGGCAG	0.637			T	RBM15	acute megakaryocytic leukemia																																	uc003ayv.1				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(877-879)CCA>CCG		megakaryoblastic leukemia 1 protein							43.0	51.0	48.0					22																	40816853		2203	4300	6503	SO:0001819	synonymous_variant	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40816853T>C	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.879A>G	22.37:g.40816853T>C						MKL1_uc003ayw.1_Silent_p.P293P|MKL1_uc010gye.1_Silent_p.P293P|MKL1_uc010gyf.1_Silent_p.P243P	p.P293P	NM_020831	NP_065882	Q969V6	MKL1_HUMAN			7	1086	-			293					Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Silent	SNP	ENST00000355630.3	37	c.879A>G	CCDS14003.1																																																																																				PASS	0.637	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		14	32	14	32	---	---	---	---
SHOX	6473	broad.mit.edu	37	X	591828	591828	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chrX:591828T>A	ENST00000554971.1	+	1	287	c.196T>A	c.(196-198)Tgc>Agc	p.C66S	SHOX_ENST00000381575.1_Missense_Mutation_p.C66S|SHOX_ENST00000334060.3_Missense_Mutation_p.C66S|SHOX_ENST00000381578.1_Missense_Mutation_p.C66S			O15266	SHOX_HUMAN	short stature homeobox	66					skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C66S(1)		endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGCGGCCACTGCCCGGTGCA	0.592																																					Ovarian(95;18 1419 12424 14056 28266)	uc004cph.1																			1	Substitution - Missense(1)		lung(1)		0						c.(196-198)TGC>AGC		short stature homeobox isoform SHOXa							76.0	92.0	87.0					X																	591828		2203	4296	6499	SO:0001583	missense	6473				skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:591828T>A	U82668	CCDS14106.1, CCDS14107.1	Xp22.33 and Yp11.32	2014-07-16			ENSG00000185960	ENSG00000185960		"""Pseudoautosomal regions / PAR1"", ""Homeoboxes / PRD class"""	10853	protein-coding gene	gene with protein product		312865, 400020				9259282, 9140395	Standard	XR_247282		Approved	PHOG, GCFX, SS, SHOXY	uc004cph.1	O15266	OTTHUMG00000021053	ENST00000554971.1:c.196T>A	X.37:g.591828T>A	ENSP00000452016:p.Cys66Ser					SHOX_uc004cpi.2_Missense_Mutation_p.C66S	p.C66S	NM_000451	NP_000442	O15266	SHOX_HUMAN			2	887	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	66					O00412|O00413|O15267	Missense_Mutation	SNP	ENST00000554971.1	37	c.196T>A	CCDS14107.1	.	.	.	.	.	.	.	.	.	.	T	7.922	0.738843	0.15642	.	.	ENSG00000185960	ENST00000334060;ENST00000381578;ENST00000554971;ENST00000381575	D;D;D;D	0.94092	-3.35;-3.21;-3.21;-3.35	2.26	0.808	0.18719	.	0.697656	0.13111	U	0.412968	D	0.87022	0.6074	L	0.57536	1.79	0.09310	N	1	B;B	0.32467	0.372;0.008	B;B	0.27796	0.083;0.003	T	0.73642	-0.3918	10	0.05833	T	0.94	.	6.7307	0.23381	0.2127:0.0:0.0:0.7873	.	66;66	O15266-2;O15266	.;SHOX_HUMAN	S	66	ENSP00000335505:C66S;ENSP00000370990:C66S;ENSP00000452016:C66S;ENSP00000370987:C66S	ENSP00000335505:C66S	C	+	1	0	SHOX	511828	1.000000	0.71417	0.964000	0.40570	0.403000	0.30841	4.261000	0.58841	0.631000	0.30412	0.227000	0.17789	TGC		PASS	0.592	SHOX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411999.3	NM_000451		7	97	7	97	---	---	---	---
SHOX	6473	broad.mit.edu	37	X	601573	601573	+	Silent	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chrX:601573G>T	ENST00000554971.1	+	3	595	c.504G>T	c.(502-504)cgG>cgT	p.R168R	SHOX_ENST00000381575.1_Silent_p.R168R|SHOX_ENST00000334060.3_Silent_p.R168R|SHOX_ENST00000381578.1_Silent_p.R168R			O15266	SHOX_HUMAN	short stature homeobox	168			R -> W (in LMD). {ECO:0000269|PubMed:11889214}.		skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R168R(1)		endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCCAGAACCGGAGAGCCAAGT	0.592																																					Ovarian(95;18 1419 12424 14056 28266)	uc004cph.1																			1	Substitution - coding silent(1)		lung(1)		0	GRCh37	CD075547	SHOX	D		c.(502-504)CGG>CGT		short stature homeobox isoform SHOXa							156.0	165.0	162.0					X																	601573		2203	4296	6499	SO:0001819	synonymous_variant	6473				skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:601573G>T	U82668	CCDS14106.1, CCDS14107.1	Xp22.33 and Yp11.32	2014-07-16			ENSG00000185960	ENSG00000185960		"""Pseudoautosomal regions / PAR1"", ""Homeoboxes / PRD class"""	10853	protein-coding gene	gene with protein product		312865, 400020				9259282, 9140395	Standard	XR_247282		Approved	PHOG, GCFX, SS, SHOXY	uc004cph.1	O15266	OTTHUMG00000021053	ENST00000554971.1:c.504G>T	X.37:g.601573G>T						SHOX_uc004cpi.2_Silent_p.R168R	p.R168R	NM_000451	NP_000442	O15266	SHOX_HUMAN			4	1195	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	168		R -> W (in LMD).	Homeobox.		O00412|O00413|O15267	Silent	SNP	ENST00000554971.1	37	c.504G>T	CCDS14107.1																																																																																				PASS	0.592	SHOX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411999.3	NM_000451		18	151	18	151	---	---	---	---
NLGN4X	57502	broad.mit.edu	37	X	5821841	5821841	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chrX:5821841G>T	ENST00000381095.3	-	5	1505	c.878C>A	c.(877-879)cCg>cAg	p.P293Q	NLGN4X_ENST00000381092.1_Missense_Mutation_p.P293Q|NLGN4X_ENST00000275857.6_Missense_Mutation_p.P293Q|NLGN4X_ENST00000381093.2_Missense_Mutation_p.P313Q|NLGN4X_ENST00000538097.1_Missense_Mutation_p.P293Q	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	293					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.P293Q(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTACTTGGCCGGCTGGTAGTT	0.542																																						uc010ndh.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(877-879)CCG>CAG		X-linked neuroligin 4 precursor							99.0	76.0	84.0					X																	5821841		2203	4300	6503	SO:0001583	missense	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5821841G>T	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.878C>A	X.37:g.5821841G>T	ENSP00000370485:p.Pro293Gln					NLGN4X_uc004crp.2_Missense_Mutation_p.P313Q|NLGN4X_uc004crq.2_Missense_Mutation_p.P293Q|NLGN4X_uc010ndi.2_Missense_Mutation_p.P330Q|NLGN4X_uc004crr.2_Missense_Mutation_p.P293Q|NLGN4X_uc010ndj.2_Missense_Mutation_p.P293Q	p.P293Q	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			5	1379	-			293			Extracellular (Potential).		Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.878C>A	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066053	0.76187	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	3.93	3.93	0.45458	Carboxylesterase, type B (1);	.	.	.	.	T	0.81479	0.4831	M	0.80746	2.51	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.83650	0.0155	8	.	.	.	.	14.4947	0.67678	0.0:0.0:1.0:0.0	.	350;293;313	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	Q	293;313;293;293;293	ENSP00000370485:P293Q;ENSP00000370483:P313Q;ENSP00000275857:P293Q;ENSP00000370482:P293Q;ENSP00000439203:P293Q	.	P	-	2	0	NLGN4X	5831841	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	8.442000	0.90317	1.579000	0.49836	0.600000	0.82982	CCG		PASS	0.542	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		26	56	26	56	---	---	---	---
DMD	1756	broad.mit.edu	37	X	31893457	31893457	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chrX:31893457T>C	ENST00000357033.4	-	48	7152	c.6946A>G	c.(6946-6948)Att>Gtt	p.I2316V	DMD_ENST00000378677.2_Missense_Mutation_p.I2312V|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378707.3_5'UTR	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	2316			Missing (in DMD).		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.I975V(1)|p.I2311V(1)|p.I2312V(1)|p.I2316V(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)				TGAGCTTCAATTTCTCCTTGT	0.343																																						uc004dda.1																			4	Substitution - Missense(4)		lung(4)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(6946-6948)ATT>GTT		dystrophin Dp427m isoform							58.0	48.0	51.0					X																	31893457		2202	4299	6501	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:31893457T>C	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.6946A>G	X.37:g.31893457T>C	ENSP00000354923:p.Ile2316Val					DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.I972V|DMD_uc004dcx.2_Missense_Mutation_p.I975V|DMD_uc004dcz.2_Missense_Mutation_p.I2193V|DMD_uc004dcy.1_Missense_Mutation_p.I2312V|DMD_uc004ddb.1_Missense_Mutation_p.I2308V|DMD_uc010ngn.1_RNA	p.I2316V	NM_004006	NP_003997	P11532	DMD_HUMAN			48	7190	-		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)	2316		Missing (in DMD).	Spectrin 16.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.6946A>G	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.42|11.42	1.633221|1.633221	0.29068|0.29068	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280|ENST00000465285	T;T;T|.	0.48836|.	1.42;0.8;0.8|.	5.24|5.24	-0.243|-0.243	0.13035|0.13035	.|.	0.467499|.	0.14470|.	U|.	0.317655|.	T|T	0.44435|0.44435	0.1293|0.1293	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	B;B;B;B;B|.	0.10296|.	0.0;0.0;0.0;0.0;0.003|.	B;B;B;B;B|.	0.08055|.	0.001;0.002;0.002;0.001;0.003|.	T|T	0.24764|0.24764	-1.0151|-1.0151	10|5	0.51188|.	T|.	0.08|.	.|.	2.8962|2.8962	0.05691|0.05691	0.1276:0.0801:0.3262:0.4661|0.1276:0.0801:0.3262:0.4661	.|.	2308;2316;2312;975;972|.	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6|.	.;DMD_HUMAN;.;.;.|.	V|S	2308;975;972;12;2312;2316;2316;2193|44	ENSP00000350765:I12V;ENSP00000367948:I2312V;ENSP00000354923:I2316V|.	ENSP00000354923:I2316V|.	I|N	-|-	1|2	0|0	DMD|DMD	31803378|31803378	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.964000|0.964000	0.63967|0.63967	1.921000|1.921000	0.40035|0.40035	-0.330000|-0.330000	0.08514|0.08514	0.486000|0.486000	0.48141|0.48141	ATT|AAT		PASS	0.343	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		12	20	12	20	---	---	---	---
USP26	83844	broad.mit.edu	37	X	132161178	132161178	+	Silent	SNP	C	C	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chrX:132161178C>T	ENST00000511190.1	-	6	1540	c.1071G>A	c.(1069-1071)aaG>aaA	p.K357K	USP26_ENST00000370832.1_Silent_p.K357K|USP26_ENST00000406273.1_Silent_p.K357K	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	357	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.K357K(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GTAACATCTCCTTGATTTCTA	0.383																																					NSCLC(104;342 1621 36940 47097 52632)	uc010nrm.1																			1	Substitution - coding silent(1)		lung(1)	lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8						c.(1069-1071)AAG>AAA		ubiquitin-specific protease 26							52.0	52.0	52.0					X																	132161178		2203	4297	6500	SO:0001819	synonymous_variant	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132161178C>T	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1071G>A	X.37:g.132161178C>T						USP26_uc011mvf.1_Silent_p.K357K	p.K357K	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN			6	1541	-	Acute lymphoblastic leukemia(192;0.000127)		357					B9WRT6|Q5H9H4	Silent	SNP	ENST00000511190.1	37	c.1071G>A	CCDS14635.1																																																																																				PASS	0.383	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		32	74	32	74	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135441478	135441478	+	Silent	SNP	C	C	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chrX:135441478C>T	ENST00000394143.1	+	11	7299	c.7008C>T	c.(7006-7008)gcC>gcT	p.A2336A	GPR112_ENST00000370652.1_Silent_p.A2336A|GPR112_ENST00000394141.1_Silent_p.A2131A|GPR112_ENST00000412101.1_Silent_p.A2131A|GPR112_ENST00000287534.4_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2336					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.A2336A(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCATAAAAGCCAGCTCTTCCT	0.373																																						uc004ezu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(7006-7008)GCC>GCT		G-protein coupled receptor 112							174.0	160.0	165.0					X																	135441478		2203	4300	6503	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135441478C>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.7008C>T	X.37:g.135441478C>T						GPR112_uc010nsb.1_Silent_p.A2131A|GPR112_uc010nsc.1_Intron	p.A2336A	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			11	7299	+	Acute lymphoblastic leukemia(192;0.000127)		2336			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.7008C>T	CCDS35409.1																																																																																				PASS	0.373	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			38	161	38	161	---	---	---	---
ATP2B3	492	broad.mit.edu	37	X	152826170	152826171	+	Missense_Mutation	DNP	CG	CG	TC			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chrX:152826170_152826171CG>TC	ENST00000349466.2	+	18	3202_3203	c.2876_2877CG>TC	c.(2875-2877)gCG>gTC	p.A959V	ATP2B3_ENST00000370186.1_Missense_Mutation_p.A945V|ATP2B3_ENST00000370181.2_Missense_Mutation_p.A945V|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000393842.1_Missense_Mutation_p.A945V|ATP2B3_ENST00000359149.3_Missense_Mutation_p.A959V|ATP2B3_ENST00000263519.4_Missense_Mutation_p.A959V			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	959					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.A959V(6)|p.A959A(3)|p.A945V(2)|p.A945A(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGGAATGCGCCCCTGCACT	0.564																																						uc004fht.1																			12	Substitution - Missense(8)|Substitution - coding silent(4)		lung(12)	pancreas(1)	1						c.(2875-2877)GCG>GTG|c.(2875-2877)GCG>GCC		plasma membrane calcium ATPase 3 isoform 3b																																				SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152826170C>T|g.chrX:152826171G>C	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	Exception_encountered	X.37:g.152826170_152826171delinsTC	ENSP00000343886:p.Ala959Val					ATP2B3_uc004fhs.1_Missense_Mutation_p.A959V|ATP2B3_uc010nuf.1_5'UTR|ATP2B3_uc004fhu.1_5'Flank|ATP2B3_uc004fhs.1_Silent_p.A959A|ATP2B3_uc010nuf.1_5'UTR|ATP2B3_uc004fhu.1_5'Flank	p.A959V|p.A959A	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			17	3002|3003	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		959			Extracellular (Potential).		B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation|Silent	SNP	ENST00000349466.2	37	c.2876C>T|c.2877G>C	CCDS35440.1																																																																																				PASS	0.564	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		13	38|37	13	37	---	---	---	---
VAMP7	6845	broad.mit.edu	37	X	155149501	155149501	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chrX:155149501G>T	ENST00000286448.6	+	6	623	c.458G>T	c.(457-459)aGa>aTa	p.R153I	VAMP7_ENST00000460621.1_Missense_Mutation_p.R112I|VAMP7_ENST00000262640.6_Intron|VAMP7_ENST00000479687.1_3'UTR	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	153	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				calcium ion-dependent exocytosis (GO:0017156)|endosome to lysosome transport (GO:0008333)|eosinophil degranulation (GO:0043308)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane protein transport (GO:0043001)|membrane organization (GO:0061024)|neutrophil degranulation (GO:0043312)|phagocytosis, engulfment (GO:0006911)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of protein targeting to vacuolar membrane (GO:1900483)|SNARE complex assembly (GO:0035493)|triglyceride transport (GO:0034197)|vesicle fusion (GO:0006906)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle-mediated transport (GO:0016192)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)		p.R153I(1)		large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGAGGAGAAAGATTGGAATTA	0.303																																						uc004fnr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(457-459)AGA>ATA		vesicle-associated membrane protein 7 isoform 1							130.0	140.0	137.0					X																	155149501		2203	4296	6499	SO:0001583	missense	6845				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding	g.chrX:155149501G>T	AJ295938	CCDS14770.4, CCDS48199.1, CCDS55548.1	Xq28 and Yq12	2013-02-13	2007-12-05	2007-12-05	ENSG00000124333	ENSG00000124333		"""Pseudoautosomal regions / PAR2"", ""Vesicle-associated membrane proteins"""	11486	protein-coding gene	gene with protein product		300053	"""synaptobrevin-like 1"""	SYBL1		8640232, 11440841	Standard	NM_001145149		Approved	VAMP-7, TI-VAMP	uc004fns.3	P51809	OTTHUMG00000022679	ENST00000286448.6:c.458G>T	X.37:g.155149501G>T	ENSP00000286448:p.Arg153Ile					VAMP7_uc004fnt.2_Missense_Mutation_p.R112I|VAMP7_uc011naa.1_Missense_Mutation_p.R114I|VAMP7_uc011nab.1_Missense_Mutation_p.R52I|VAMP7_uc004fns.2_Intron|VAMP7_uc011nac.1_Missense_Mutation_p.R86I	p.R153I	NM_005638	NP_005629	P51809	VAMP7_HUMAN			6	632	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		153			v-SNARE coiled-coil homology.|Cytoplasmic (Potential).		Q53GY7|Q7Z409|Q9H4A7	Missense_Mutation	SNP	ENST00000286448.6	37	c.458G>T	CCDS14770.4	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008164	0.54361	.	.	ENSG00000124333	ENST00000286448;ENST00000460621	T;T	0.50277	0.75;0.75	3.05	3.05	0.35203	Synaptobrevin (4);	.	.	.	.	T	0.56877	0.2015	.	.	.	0.19575	N	0.999961	P;B;P;P	0.52463	0.953;0.318;0.817;0.758	P;P;P;P	0.55260	0.772;0.555;0.662;0.772	T	0.47749	-0.9093	8	0.87932	D	0	.	11.3064	0.49338	0.0:0.0:1.0:0.0	.	86;114;112;153	B4DE96;B4DIH9;P51809-3;P51809	.;.;.;VAMP7_HUMAN	I	153;112	ENSP00000286448:R153I;ENSP00000427822:R112I	ENSP00000286448:R153I	R	+	2	0	VAMP7	154802695	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.398000	0.52579	1.798000	0.52647	0.284000	0.19432	AGA		PASS	0.303	VAMP7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058843.1	NM_005638		21	161	21	161	---	---	---	---
CACNA1B	774	broad.mit.edu	37	9	141015240	141015241	+	Frame_Shift_Ins	INS	-	-	T			TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr9:141015240_141015241insT	ENST00000371372.1	+	46	6541_6542	c.6396_6397insT	c.(6397-6399)tttfs	p.F2133fs	CACNA1B_ENST00000371355.4_Frame_Shift_Ins_p.F2134fs|CACNA1B_ENST00000277549.5_Frame_Shift_Ins_p.F1327fs|CACNA1B_ENST00000371357.1_Frame_Shift_Ins_p.F2132fs|CACNA1B_ENST00000277551.2_Frame_Shift_Ins_p.F2133fs|CACNA1B_ENST00000371363.1_Frame_Shift_Ins_p.F2131fs	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2133					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTGCGACCGCTTTGGGGGCCG	0.708																																						uc004cog.2																			0				breast(3)|large_intestine(2)|ovary(1)	6						c.(6394-6399)CGCTTTfs		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)																																			SO:0001589	frameshift_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141015240_141015241insT	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.6399dupT	9.37:g.141015243_141015243dupT	ENSP00000360423:p.Phe2133fs					CACNA1B_uc004coi.2_Frame_Shift_Ins_p.R1344fs	p.R2132fs	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	45	6541_6542	+	all_cancers(76;0.166)		2132_2133			Cytoplasmic (Potential).		B1AQK5	Frame_Shift_Ins	INS	ENST00000371372.1	37	c.6396_6397insT	CCDS59522.1																																																																																					0.708	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		4	2	4	2	---	---	---	---
TMEM199	147007	broad.mit.edu	37	17	26684394	26684395	+	5'Flank	INS	-	-	G	rs202089331|rs17856014	byFrequency	TCGA-39-5039-01A-01D-1441-08	TCGA-39-5039-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0c14e914-abd4-4406-be82-a810b10a1320	102b74a1-6b90-4599-abf6-43a8259b5027	g.chr17:26684394_26684395insG	ENST00000292114.3	+	0	0				TMEM199_ENST00000395404.3_5'Flank|TMEM199_ENST00000509083.1_5'Flank|POLDIP2_ENST00000540200.1_Splice_Site|POLDIP2_ENST00000003607.4_5'UTR|CTB-96E2.3_ENST00000591482.1_RNA	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AGAGCGGCTTTGCCACCGGGCC	0.762																																						uc002haz.2																			0					0						c.e2+1		DNA polymerase delta interacting protein 2				2770,50		1380,10,20						0.4	0.1		dbSNP_130	4	6440,112		3203,34,39	no	frameshift	POLDIP2	NM_015584.3		4583,44,59	A1A1,A1R,RR		1.7094,1.773,1.7286				9210,162				SO:0001631	upstream_gene_variant	26073					mitochondrial nucleoid|nucleus		g.chr17:26684394_26684395insG	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26684395_26684395dupG	Exception_encountered					POLDIP2_uc010wag.1_RNA|TMEM199_uc002hba.2_5'Flank|SARM1_uc010wah.1_5'Flank	p.W26_splice	NM_015584	NP_056399	Q9Y2S7	PDIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	2	210	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)								Splice_Site	INS	ENST00000292114.3	37	c.78_splice	CCDS11228.1																																																																																					0.762	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		4	3	4	3	---	---	---	---
