#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_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
PLEKHN1	84069	broad.mit.edu	37	1	909247	909247	+	Missense_Mutation	SNP	C	C	T	rs72631892		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:909247C>T	ENST00000379409.2	+	13	1655	c.1625C>T	c.(1624-1626)aCg>aTg	p.T542M	PLEKHN1_ENST00000379407.3_Missense_Mutation_p.T455M|PLEKHN1_ENST00000379410.3_Missense_Mutation_p.T490M			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	542										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CGTGGACCCACGCCCTCGAGC	0.682																																						uc001ace.2																			0					0						c.(1624-1626)ACG>ATG		pleckstrin homology domain containing, family N							29.0	35.0	32.0					1																	909247		2198	4296	6494	SO:0001583	missense	84069							g.chr1:909247C>T	AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"""Pleckstrin homology (PH) domain containing"""	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.1625C>T	1.37:g.909247C>T	ENSP00000368719:p.Thr542Met					PLEKHN1_uc001acd.2_Missense_Mutation_p.T490M|PLEKHN1_uc001acf.2_Missense_Mutation_p.T455M	p.T542M	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	13	1660	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	542					Q494U2|Q5SV98|Q9H0M7	Missense_Mutation	SNP	ENST00000379409.2	37	c.1625C>T		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	1.912	-0.450368	0.04572	.	.	ENSG00000187583	ENST00000379410;ENST00000379407;ENST00000379409	T;T;T	0.45276	0.91;0.9;0.91	4.65	2.13	0.27403	.	0.744234	0.12895	N	0.430281	T	0.19167	0.0460	N	0.08118	0	0.09310	N	1	B;B;B	0.33964	0.434;0.013;0.005	B;B;B	0.28638	0.092;0.004;0.002	T	0.12116	-1.0560	10	0.52906	T	0.07	.	5.002	0.14269	0.4493:0.3285:0.0:0.2222	.	455;542;490	Q494U1-3;Q494U1;Q494U1-2	.;PKHN1_HUMAN;.	M	490;455;542	ENSP00000368720:T490M;ENSP00000368717:T455M;ENSP00000368719:T542M	ENSP00000368717:T455M	T	+	2	0	PLEKHN1	899110	0.056000	0.20664	0.004000	0.12327	0.003000	0.03518	0.236000	0.17967	-0.083000	0.12618	-1.017000	0.02453	ACG		0.682	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	NM_032129	
TAS1R2	80834	broad.mit.edu	37	1	19168299	19168299	+	Silent	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:19168299C>T	ENST00000375371.3	-	5	1536	c.1515G>A	c.(1513-1515)aaG>aaA	p.K505K		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	505					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCACAGGCTTCTTCTTTTGCC	0.562																																						uc001bba.1																			0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1513-1515)AAG>AAA		taste receptor, type 1, member 2 precursor	Aspartame(DB00168)						136.0	109.0	118.0					1																	19168299		2203	4300	6503	SO:0001819	synonymous_variant	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19168299C>T		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1515G>A	1.37:g.19168299C>T							p.K505K	NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	5	1516	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	505			Extracellular (Potential).		Q5TZ19	Silent	SNP	ENST00000375371.3	37	c.1515G>A	CCDS187.1																																																																																				0.562	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1		
RIMS3	9783	broad.mit.edu	37	1	41107474	41107474	+	Missense_Mutation	SNP	C	C	T	rs149583022		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:41107474C>T	ENST00000372684.3	-	3	593	c.124G>A	c.(124-126)Gcc>Acc	p.A42T	RIMS3_ENST00000372683.1_Missense_Mutation_p.A42T	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	42					calcium ion-dependent exocytosis (GO:0017156)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)		p.A42T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			CGCTTCTTGGCGGTGGTGGTC	0.657																																						uc001cfu.1																			1	Substitution - Missense(1)		large_intestine(1)		0						c.(124-126)GCC>ACC		regulating synaptic membrane exocytosis 3		C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	39.0	38.0	39.0		124	3.6	0.5	1	dbSNP_134	39	1,8597	1.2+/-3.3	0,1,4298	no	missense	RIMS3	NM_014747.2	58	0,3,6499	TT,TC,CC		0.0116,0.0454,0.0231	benign	42/309	41107474	3,13001	2203	4299	6502	SO:0001583	missense	9783				neurotransmitter transport	cell junction|synapse		g.chr1:41107474C>T	BC003103	CCDS30687.1	1p34.2	2013-09-19			ENSG00000117016	ENSG00000117016			21292	protein-coding gene	gene with protein product		611600				12620390, 10748113	Standard	NM_014747		Approved	RIM3, NIM3	uc001cfu.1	Q9UJD0	OTTHUMG00000007453	ENST00000372684.3:c.124G>A	1.37:g.41107474C>T	ENSP00000361769:p.Ala42Thr					RIMS3_uc001cfv.1_Missense_Mutation_p.A42T	p.A42T	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)		3	593	-	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	42					D3DPV8|Q92511|X5D7U7	Missense_Mutation	SNP	ENST00000372684.3	37	c.124G>A	CCDS30687.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368553	0.42003	4.54E-4	1.16E-4	ENSG00000117016	ENST00000372684;ENST00000372683	T;T	0.36520	1.25;1.25	5.52	3.61	0.41365	.	0.398245	0.29587	N	0.011725	T	0.15046	0.0363	N	0.04203	-0.255	0.31819	N	0.626227	B	0.11235	0.004	B	0.04013	0.001	T	0.07693	-1.0759	10	0.34782	T	0.22	-14.4647	5.0493	0.14499	0.1685:0.661:0.0:0.1705	.	42	Q9UJD0	RIMS3_HUMAN	T	42	ENSP00000361769:A42T;ENSP00000361768:A42T	ENSP00000361768:A42T	A	-	1	0	RIMS3	40880061	0.976000	0.34144	0.544000	0.28141	0.749000	0.42624	2.542000	0.45744	0.659000	0.30945	0.655000	0.94253	GCC		0.657	RIMS3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019585.1	NM_014747	
PTPRF	5792	broad.mit.edu	37	1	44069550	44069550	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:44069550G>A	ENST00000359947.4	+	16	3067	c.2727G>A	c.(2725-2727)agG>agA	p.R909R	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Silent_p.R909R|PTPRF_ENST00000438120.1_Silent_p.R900R|PTPRF_ENST00000422171.2_Silent_p.R257R|PTPRF_ENST00000372413.3_Silent_p.R900R	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	909	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGAGATCAGGACCCCCGAGG	0.627																																						uc001cjr.2																			0				ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(2725-2727)AGG>AGA		protein tyrosine phosphatase, receptor type, F							50.0	51.0	51.0					1																	44069550		2203	4300	6503	SO:0001819	synonymous_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44069550G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.2727G>A	1.37:g.44069550G>A						PTPRF_uc001cjs.2_Silent_p.R900R|PTPRF_uc001cju.2_Intron|PTPRF_uc009vwt.2_Silent_p.R469R|PTPRF_uc001cjv.2_Silent_p.R369R|PTPRF_uc001cjw.2_Silent_p.R135R	p.R909R	NM_002840	NP_002831	P10586	PTPRF_HUMAN			16	3067	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	909			Extracellular (Potential).|Fibronectin type-III 6.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	c.2727G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.404|7.404	0.633409|0.633409	0.14322|0.14322	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000414879|ENST00000429895	.|.	.|.	.|.	5.03|5.03	-10.1|-10.1	0.00402|0.00402	.|.	.|.	.|.	.|.	.|.	T|T	0.35595|0.35595	0.0937|0.0937	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.44907|0.44907	-0.9297|-0.9297	4|4	.|.	.|.	.|.	.|.	4.3659|4.3659	0.11225|0.11225	0.4824:0.3073:0.1098:0.1005|0.4824:0.3073:0.1098:0.1005	.|.	.|.	.|.	.|.	N|E	323|555	.|.	.|.	D|G	+|+	1|2	0|0	PTPRF|PTPRF	43842137|43842137	0.001000|0.001000	0.12720|0.12720	0.119000|0.119000	0.21687|0.21687	0.943000|0.943000	0.58893|0.58893	-1.342000|-1.342000	0.02645|0.02645	-1.545000|-1.545000	0.01719|0.01719	-0.302000|-0.302000	0.09304|0.09304	GAC|GGA		0.627	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1		
WLS	79971	broad.mit.edu	37	1	68603590	68603590	+	Silent	SNP	G	G	A	rs537667082		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:68603590G>A	ENST00000262348.4	-	11	1642	c.1389C>T	c.(1387-1389)ggC>ggT	p.G463G	WLS_ENST00000370976.3_Silent_p.G372G|GNG12-AS1_ENST00000434072.1_RNA|WLS_ENST00000540432.1_Silent_p.G463G|GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000354777.2_Silent_p.G461G	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	463					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						CTGTGACGCCGCCCCATTTCC	0.443													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21392	0.0		0.0	False		,,,				2504	0.0					uc001def.1																			0					0						c.(1387-1389)GGC>GGT		G protein-coupled receptor 177 isoform 1							93.0	86.0	89.0					1																	68603590		2203	4300	6503	SO:0001819	synonymous_variant	79971				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity	g.chr1:68603590G>A	BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.1389C>T	1.37:g.68603590G>A						uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Silent_p.G461G|WLS_uc001deg.1_Silent_p.G372G|WLS_uc009wbf.1_Silent_p.G418G	p.G463G	NM_024911	NP_079187	Q5T9L3	WLS_HUMAN			11	1660	-			463			Lumenal (Potential).		B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Silent	SNP	ENST00000262348.4	37	c.1389C>T	CCDS642.1																																																																																				0.443	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025368.1	NM_024911	
ATP1A1	476	broad.mit.edu	37	1	116943788	116943788	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:116943788C>T	ENST00000295598.5	+	20	3007	c.2755C>T	c.(2755-2757)Cac>Tac	p.H919Y	ATP1A1_ENST00000369496.4_Missense_Mutation_p.H888Y|ATP1A1_ENST00000537345.1_Missense_Mutation_p.H919Y	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	919					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	GTTCACCTGCCACACAGCCTT	0.532																																						uc001ege.2																			0				ovary(1)	1						c.(2755-2757)CAC>TAC		Na+/K+ -ATPase alpha 1 subunit isoform a	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)						89.0	77.0	81.0					1																	116943788		2203	4300	6503	SO:0001583	missense	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116943788C>T	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.2755C>T	1.37:g.116943788C>T	ENSP00000295598:p.His919Tyr					ATP1A1_uc010owv.1_Missense_Mutation_p.H888Y|ATP1A1_uc010oww.1_Missense_Mutation_p.H919Y|ATP1A1_uc010owx.1_Missense_Mutation_p.H888Y|C1orf203_uc009whb.2_Intron|C1orf203_uc001egg.3_Intron|ATP1A1_uc001egh.2_Missense_Mutation_p.H61Y	p.H919Y	NM_000701	NP_000692	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	20	3094	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	919			Helical; (Potential).		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	c.2755C>T	CCDS887.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.040846	0.55003	.	.	ENSG00000163399	ENST00000295598;ENST00000445896;ENST00000537345;ENST00000369496;ENST00000440951	D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79	5.1	5.1	0.69264	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.94830	0.8330	L	0.45285	1.41	0.80722	D	1	D;D	0.60160	0.987;0.978	P;D	0.62955	0.89;0.909	D	0.92475	0.5988	10	0.15066	T	0.55	.	18.3091	0.90193	0.0:1.0:0.0:0.0	.	919;919	F5H3A1;P05023	.;AT1A1_HUMAN	Y	919;88;919;888;86	ENSP00000295598:H919Y;ENSP00000445306:H919Y;ENSP00000358508:H888Y;ENSP00000396236:H86Y	ENSP00000295598:H919Y	H	+	1	0	ATP1A1	116745311	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.933000	0.70130	2.640000	0.89533	0.591000	0.81541	CAC		0.532	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233	
TBX15	6913	broad.mit.edu	37	1	119441665	119441665	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:119441665A>G	ENST00000369429.3	-	7	1019	c.1010T>C	c.(1009-1011)aTg>aCg	p.M337T	TBX15_ENST00000207157.3_Missense_Mutation_p.M231T			Q96SF7	TBX15_HUMAN	T-box 15	337					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTGCTTCTGCATGGTGGTGAA	0.527																																						uc001ehl.1																			0				large_intestine(1)|pancreas(1)	2						c.(691-693)ATG>ACG		T-box 15							130.0	110.0	117.0					1																	119441665		2203	4300	6503	SO:0001583	missense	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119441665A>G	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1010T>C	1.37:g.119441665A>G	ENSP00000358437:p.Met337Thr					TBX15_uc009whj.1_Missense_Mutation_p.M22T	p.M231T	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	7	1007	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	337					Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37	c.692T>C		.	.	.	.	.	.	.	.	.	.	A	15.85	2.955879	0.53293	.	.	ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429;ENST00000449873;ENST00000393149	D;D;T	0.87491	-2.26;-2.16;-1.34	5.65	4.5	0.54988	.	0.235849	0.48767	D	0.000177	T	0.78336	0.4267	L	0.40543	1.245	0.58432	D	0.999996	P;P	0.48764	0.915;0.893	P;P	0.49361	0.608;0.53	T	0.75747	-0.3209	10	0.20519	T	0.43	.	12.2698	0.54700	0.8726:0.0:0.0:0.1274	.	101;337	E9PCG3;Q96SF7	.;TBX15_HUMAN	T	101;231;337;32;31	ENSP00000207157:M231T;ENSP00000358437:M337T;ENSP00000398625:M32T	ENSP00000207157:M231T	M	-	2	0	TBX15	119243188	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.337000	0.90036	1.044000	0.40200	0.533000	0.62120	ATG		0.527	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380	
SV2A	9900	broad.mit.edu	37	1	149885276	149885276	+	Silent	SNP	G	G	A	rs368036992		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:149885276G>A	ENST00000369146.3	-	2	607	c.117C>T	c.(115-117)gaC>gaT	p.D39D	SV2A_ENST00000369145.1_Silent_p.D39D	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	39	Interaction with SYT1. {ECO:0000250}.				cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)	p.D39D(2)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GGGAATATTCGTCCTGGACTC	0.542																																						uc001etg.2																			2	Substitution - coding silent(2)		prostate(2)	ovary(6)|pancreas(1)	7						c.(115-117)GAC>GAT		synaptic vesicle glycoprotein 2	Levetiracetam(DB01202)	G		1,4405	2.1+/-5.4	0,1,2202	140.0	124.0	130.0		117	-10.4	0.4	1		130	0,8600		0,0,4300	no	coding-synonymous	SV2A	NM_014849.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		39/743	149885276	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149885276G>A	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.117C>T	1.37:g.149885276G>A						SV2A_uc001eth.2_Silent_p.D39D	p.D39D	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	608	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		39			Cytoplasmic (Potential).|Interaction with SYT1 (By similarity).		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	ENST00000369146.3	37	c.117C>T	CCDS940.1																																																																																				0.542	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1		
FLG	2312	broad.mit.edu	37	1	152283084	152283084	+	Silent	SNP	G	G	A	rs375923587		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:152283084G>A	ENST00000368799.1	-	3	4313	c.4278C>T	c.(4276-4278)tcC>tcT	p.S1426S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1426	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCACGTGCGGACTCTTTGT	0.557									Ichthyosis																													uc001ezu.1																			0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(4276-4278)TCC>TCT		filaggrin		G		0,4406		0,0,2203	205.0	205.0	205.0		4278	-5.5	0.0	1		205	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FLG	NM_002016.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1426/4062	152283084	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283084G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4278C>T	1.37:g.152283084G>A						uc001ezv.2_5'Flank	p.S1426S	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4314	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1426			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.4278C>T	CCDS30860.1																																																																																				0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
USH2A	7399	broad.mit.edu	37	1	216371751	216371751	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:216371751C>A	ENST00000307340.3	-	18	4373	c.3987G>T	c.(3985-3987)ttG>ttT	p.L1329F	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.L1329F|USH2A_ENST00000366942.3_Missense_Mutation_p.L1329F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1329	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTATGGCTCCAAGCCAGTGA	0.443										HNSCC(13;0.011)																												uc001hku.1																			0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(3985-3987)TTG>TTT		usherin isoform B							133.0	123.0	127.0					1																	216371751		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216371751C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3987G>T	1.37:g.216371751C>A	ENSP00000305941:p.Leu1329Phe	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.L1329F	p.L1329F	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	18	4374	-			1329			Fibronectin type-III 3.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.3987G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996026	0.54147	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	D;D;D	0.84873	-1.91;-1.91;-1.91	5.69	1.71	0.24356	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.32258	N	0.006360	D	0.93288	0.7861	H	0.97131	3.945	0.44247	D	0.997093	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.90454	0.4441	10	0.87932	D	0	.	5.5692	0.17187	0.12:0.5474:0.0:0.3326	.	1329;1329	O75445-2;O75445	.;USH2A_HUMAN	F	1329	ENSP00000305941:L1329F;ENSP00000355910:L1329F;ENSP00000355909:L1329F	ENSP00000305941:L1329F	L	-	3	2	USH2A	214438374	1.000000	0.71417	0.996000	0.52242	0.559000	0.35586	0.994000	0.29693	0.346000	0.23899	-0.142000	0.14014	TTG		0.443	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
SLC18A3	6572	broad.mit.edu	37	10	50820049	50820049	+	Silent	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:50820049C>T	ENST00000374115.3	+	1	1703	c.1263C>T	c.(1261-1263)taC>taT	p.Y421Y	CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000337653.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	421					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCAGCGTCTACGCCATCGCCG	0.622																																						uc001jhw.2																			0				ovary(2)	2						c.(1261-1263)TAC>TAT		vesicular acetylcholine transporter							48.0	39.0	42.0					10																	50820049		2203	4300	6503	SO:0001819	synonymous_variant	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50820049C>T	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1263C>T	10.37:g.50820049C>T						CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	p.Y421Y	NM_003055	NP_003046	Q16572	VACHT_HUMAN			1	1703	+			421			Cytoplasmic (Potential).		B2R7S1	Silent	SNP	ENST00000374115.3	37	c.1263C>T	CCDS7231.1																																																																																				0.622	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055	
TMEM26	219623	broad.mit.edu	37	10	63212688	63212688	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:63212688G>A	ENST00000399298.3	-	1	520	c.152C>T	c.(151-153)gCg>gTg	p.A51V	TMEM26_ENST00000399293.1_Missense_Mutation_p.A51V|RP11-809M12.1_ENST00000389640.4_RNA	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	51						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GAGGGTGAGCGCAGTCTCCAG	0.642																																						uc001jlo.2																			0					0						c.(151-153)GCG>GTG		transmembrane protein 26							74.0	86.0	82.0					10																	63212688		2041	4183	6224	SO:0001583	missense	219623					integral to membrane		g.chr10:63212688G>A	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.152C>T	10.37:g.63212688G>A	ENSP00000382237:p.Ala51Val					TMEM26_uc010qij.1_RNA|TMEM26_uc001jlq.2_RNA|uc001jlr.2_RNA	p.A51V	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN			1	521	-	Prostate(12;0.0112)		51			Helical; (Potential).		Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	c.152C>T	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	G	9.355	1.066628	0.20067	.	.	ENSG00000196932	ENST00000399298;ENST00000399293	.	.	.	5.33	-0.2	0.13216	.	0.652062	0.15576	N	0.255184	T	0.12050	0.0293	N	0.02765	-0.5	0.25197	N	0.990086	B	0.13594	0.008	B	0.14023	0.01	T	0.32903	-0.9889	9	0.11794	T	0.64	-22.7346	6.3446	0.21343	0.3276:0.2583:0.4141:0.0	.	51	Q6ZUK4	TMM26_HUMAN	V	51	.	ENSP00000382232:A51V	A	-	2	0	TMEM26	62882694	0.692000	0.27719	0.730000	0.30809	0.381000	0.30169	0.133000	0.15912	-0.207000	0.10187	-0.302000	0.09304	GCG		0.642	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505	
ZNF365	22891	broad.mit.edu	37	10	64159484	64159484	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:64159484G>A	ENST00000395254.3	+	5	1440	c.1160G>A	c.(1159-1161)cGc>cAc	p.R387H	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000395255.3_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGGTTTGGCCGCAAAGGCAAC	0.537																																						uc001jly.3																			0				ovary(1)|skin(1)	2						c.(1204-1206)CGC>CAC		zinc finger protein 365 isoform A							57.0	56.0	56.0					10																	64159484		2203	4300	6503	SO:0001583	missense	22891							g.chr10:64159484G>A	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.1160G>A	10.37:g.64159484G>A	ENSP00000378674:p.Arg387His					ZNF365_uc001jmb.3_Intron|ZNF365_uc001jmc.2_Intron|ZNF365_uc001jlz.3_Missense_Mutation_p.R387H|ZNF365_uc001jma.3_RNA	p.R402H	NM_014951	NP_055766	Q70YC4	TALAN_HUMAN			5	1267	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		Error:Variant_position_missing_in_Q70YC4_after_alignment						Missense_Mutation	SNP	ENST00000395254.3	37	c.1205G>A	CCDS31209.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785236	0.90282	.	.	ENSG00000138311	ENST00000395254	T	0.63255	-0.03	5.82	5.82	0.92795	.	.	.	.	.	T	0.78033	0.4220	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.78959	-0.1998	9	0.87932	D	0	.	17.8822	0.88843	0.0:0.0:1.0:0.0	.	387;402	Q70YC5;Q70YC5-4	ZN365_HUMAN;.	H	387	ENSP00000378674:R387H	ENSP00000378674:R387H	R	+	2	0	ZNF365	63829490	1.000000	0.71417	0.998000	0.56505	0.911000	0.54048	5.479000	0.66813	2.745000	0.94114	0.655000	0.94253	CGC		0.537	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951	
VCL	7414	broad.mit.edu	37	10	75849002	75849002	+	Silent	SNP	T	T	C			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:75849002T>C	ENST00000211998.4	+	9	1165	c.1071T>C	c.(1069-1071)tcT>tcC	p.S357S	VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_Intron|VCL_ENST00000372755.3_Silent_p.S357S	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	357	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					AGCAGGTATCTCAGGGTCTGG	0.488																																						uc001jwd.2																		VCL/ALK(4)	0				kidney(4)|ovary(1)|central_nervous_system(1)	6						c.(1069-1071)TCT>TCC		vinculin isoform meta-VCL							91.0	75.0	81.0					10																	75849002		2203	4300	6503	SO:0001819	synonymous_variant	7414				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	g.chr10:75849002T>C	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.1071T>C	10.37:g.75849002T>C						VCL_uc009xrr.2_Silent_p.S106S|VCL_uc010qky.1_Silent_p.S264S|VCL_uc001jwe.2_Silent_p.S357S|VCL_uc010qkz.1_Intron	p.S357S	NM_014000	NP_054706	P18206	VINC_HUMAN			9	1165	+	Prostate(51;0.0112)		357			1.|N-terminal globular head.|3 X 112 AA tandem repeats.		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Silent	SNP	ENST00000211998.4	37	c.1071T>C	CCDS7341.1																																																																																				0.488	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000	
PTEN	5728	broad.mit.edu	37	10	89653808	89653808	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:89653808G>A	ENST00000371953.3	+	2	1463	c.106G>A	c.(106-108)Gga>Aga	p.G36R		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	36	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		G -> E (in glioma). {ECO:0000269|PubMed:9090379}.|G -> R (in endometrial hyperplasia). {ECO:0000269|PubMed:9635567}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(8)|p.G36R(4)|p.Y27fs*1(2)|p.G36*(1)|p.A34_G36del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATTGCTATGGGATTTCCTGC	0.284		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		53	Whole gene deletion(37)|Unknown(8)|Substitution - Missense(4)|Deletion - Frameshift(2)|Deletion - In frame(1)|Substitution - Nonsense(1)	p.?(4)|p.G36E(4)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G36V(2)|p.G36*(1)|p.A34_G36del(1)|p.G36R(1)|p.G36fs*18(1)	prostate(14)|central_nervous_system(12)|skin(8)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|ovary(3)|breast(2)|stomach(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|NS(1)|kidney(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CM004280	PTEN	M		c.(106-108)GGA>AGA		phosphatase and tensin homolog							108.0	109.0	108.0					10																	89653808		2203	4296	6499	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89653808G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.106G>A	10.37:g.89653808G>A	ENSP00000361021:p.Gly36Arg	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.G36R	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	3	1137	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	36		G -> R (in endometrial hyperplasia).|G -> E (in glioma).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.106G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	32	5.172467	0.94807	.	.	ENSG00000171862	ENST00000371953	D	0.98747	-5.11	5.19	5.19	0.71726	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.99420	0.9795	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98485	1.0607	9	.	.	.	-0.2255	17.4682	0.87639	0.0:0.0:1.0:0.0	.	36	P60484	PTEN_HUMAN	R	36	ENSP00000361021:G36R	.	G	+	1	0	PTEN	89643788	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.018000	0.93657	2.421000	0.82119	0.655000	0.94253	GGA		0.284	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
TNKS2	80351	broad.mit.edu	37	10	93619322	93619322	+	Silent	SNP	C	C	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:93619322C>A	ENST00000371627.4	+	25	3577	c.3198C>A	c.(3196-3198)tcC>tcA	p.S1066S		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	1066	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AAAACTCTTCCAAAAGCAATC	0.398																																						uc001khp.2																			0		p.S1066F(1)		kidney(3)|skin(3)|ovary(1)|lung(1)	8						c.(3196-3198)TCC>TCA		tankyrase, TRF1-interacting ankyrin-related							119.0	116.0	117.0					10																	93619322		2203	4300	6503	SO:0001819	synonymous_variant	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93619322C>A	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.3198C>A	10.37:g.93619322C>A							p.S1066S	NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN			25	3495	+		Colorectal(252;0.162)	1066			PARP catalytic.		B2RBD3|Q9H8F2|Q9HAS4	Silent	SNP	ENST00000371627.4	37	c.3198C>A	CCDS7417.1																																																																																				0.398	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235	
HPSE2	60495	broad.mit.edu	37	10	100374687	100374687	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:100374687C>T	ENST00000370552.3	-	9	1353	c.1294G>A	c.(1294-1296)Gtg>Atg	p.V432M	HPSE2_ENST00000370546.1_Missense_Mutation_p.V432M|HPSE2_ENST00000404542.1_Missense_Mutation_p.V320M|HPSE2_ENST00000370549.1_Missense_Mutation_p.V374M	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	432					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TTCTGGTCCACGAGGTGATTG	0.418																																						uc001kpn.1																			0				ovary(1)	1						c.(1294-1296)GTG>ATG		heparanase 2							189.0	162.0	171.0					10																	100374687		2203	4300	6503	SO:0001583	missense	60495				carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	g.chr10:100374687C>T	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.1294G>A	10.37:g.100374687C>T	ENSP00000359583:p.Val432Met					HPSE2_uc009xwc.1_Missense_Mutation_p.V422M|HPSE2_uc001kpo.1_Missense_Mutation_p.V364M|HPSE2_uc009xwd.1_Missense_Mutation_p.V310M	p.V432M	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	9	1354	-			432					Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	c.1294G>A	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621408	0.87460	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.46	5.46	0.80206	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.068075	0.56097	D	0.000021	T	0.51534	0.1680	L	0.51914	1.62	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;0.999;0.994	D;P;P;P	0.83275	0.996;0.759;0.847;0.579	T	0.40327	-0.9569	10	0.44086	T	0.13	-8.3071	18.4497	0.90699	0.0:1.0:0.0:0.0	.	320;432;374;432	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	M	432;374;432;320	ENSP00000359583:V432M;ENSP00000359580:V374M;ENSP00000359577:V432M;ENSP00000384384:V320M	ENSP00000359577:V432M	V	-	1	0	HPSE2	100364677	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	6.883000	0.75595	2.713000	0.92767	0.655000	0.94253	GTG		0.418	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828	
DNMBP	23268	broad.mit.edu	37	10	101716779	101716779	+	Missense_Mutation	SNP	C	C	T	rs138795130		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:101716779C>T	ENST00000324109.4	-	4	543	c.452G>A	c.(451-453)cGg>cAg	p.R151Q	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Missense_Mutation_p.R151Q	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	151	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CATTAGGGCCCGGGCTTGTCC	0.557																																						uc001kqj.2																			0				ovary(5)|skin(1)	6						c.(451-453)CGG>CAG		dynamin binding protein			GLN/ARG	0,4406		0,0,2203	42.0	45.0	44.0		452	5.5	1.0	10	dbSNP_134	44	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNMBP	NM_015221.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	151/1578	101716779	1,13005	2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101716779C>T	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.452G>A	10.37:g.101716779C>T	ENSP00000315659:p.Arg151Gln					NCRNA00093_uc001kqk.1_RNA	p.R151Q	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	4	544	-		Colorectal(252;0.234)	151			SH3 3.		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.452G>A	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	C	31	5.065104	0.93898	0.0	1.16E-4	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.32753	1.44;1.44	5.47	5.47	0.80525	Src homology-3 domain (3);	0.000000	0.47093	D	0.000258	T	0.39937	0.1097	L	0.39514	1.22	0.80722	D	1	D	0.62365	0.991	D	0.66084	0.941	T	0.06770	-1.0808	10	0.05959	T	0.93	-23.9426	14.8761	0.70496	0.0:0.9293:0.0:0.0707	.	151	Q6XZF7	DNMBP_HUMAN	Q	151	ENSP00000344914:R151Q;ENSP00000315659:R151Q	ENSP00000315659:R151Q	R	-	2	0	DNMBP	101706769	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.952000	0.70282	2.724000	0.93272	0.561000	0.74099	CGG		0.557	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221	
OR51F2	119694	broad.mit.edu	37	11	4842972	4842972	+	Silent	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:4842972C>T	ENST00000322110.5	+	1	422	c.357C>T	c.(355-357)caC>caT	p.H119H	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTTCTACACGGATTTACTT	0.468																																						uc010qyn.1																			0				ovary(1)|pancreas(1)	2						c.(355-357)CAC>CAT		olfactory receptor, family 51, subfamily F,							189.0	167.0	174.0					11																	4842972		2201	4298	6499	SO:0001819	synonymous_variant	119694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4842972C>T	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"""GPCR / Class A : Olfactory receptors"""	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.357C>T	11.37:g.4842972C>T							p.H119H	NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	357	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	119			Helical; Name=3; (Potential).		Q6IFI1	Silent	SNP	ENST00000322110.5	37	c.357C>T	CCDS31361.1																																																																																				0.468	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753	
UEVLD	55293	broad.mit.edu	37	11	18587922	18587922	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:18587922C>G	ENST00000396197.3	-	5	493	c.465G>C	c.(463-465)ttG>ttC	p.L155F	UEVLD_ENST00000543987.1_Missense_Mutation_p.L155F|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000535484.1_Missense_Mutation_p.L117F|UEVLD_ENST00000300038.7_Missense_Mutation_p.L155F|UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000379387.4_Missense_Mutation_p.L133F|UEVLD_ENST00000320750.6_Missense_Mutation_p.L133F	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1			UEV and lactate/malate dehyrogenase domains											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TATAGGCTAGCAAGTCTACCT	0.368																																						uc001mot.2																			0					0						c.(463-465)TTG>TTC		ubiquitin-conjugating enzyme E2-like isoform a							81.0	82.0	82.0					11																	18587922		2199	4293	6492	SO:0001583	missense	55293				cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	g.chr11:18587922C>G	AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000396197.3:c.465G>C	11.37:g.18587922C>G	ENSP00000379500:p.Leu155Phe					UEVLD_uc001mou.2_Missense_Mutation_p.L155F|UEVLD_uc010rde.1_Missense_Mutation_p.L25F|UEVLD_uc010rdf.1_Missense_Mutation_p.L133F|UEVLD_uc010rdg.1_Missense_Mutation_p.L25F|UEVLD_uc001mov.2_Missense_Mutation_p.L133F|UEVLD_uc010rdh.1_Missense_Mutation_p.L155F	p.L155F	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN			5	545	-			155						Missense_Mutation	SNP	ENST00000396197.3	37	c.465G>C	CCDS41624.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760577	0.69763	.	.	ENSG00000151116	ENST00000543987;ENST00000535484;ENST00000396197;ENST00000320750;ENST00000379387;ENST00000300038	D;D;T;D;T	0.85171	-1.95;-1.93;-1.04;-1.89;-0.97	5.98	5.98	0.97165	.	0.069691	0.56097	D	0.000026	D	0.90075	0.6900	M	0.63843	1.955	0.58432	D	0.999992	D;D;D;D;D	0.89917	1.0;1.0;0.992;1.0;1.0	D;D;P;D;D	0.91635	0.999;0.996;0.9;0.993;0.991	D	0.86456	0.1776	10	0.19147	T	0.46	-4.6903	14.4564	0.67418	0.1556:0.8444:0.0:0.0	.	155;133;133;155;155	Q8IX04-5;B4DL43;Q8IX04-3;Q8IX04-2;Q8IX04	.;.;.;.;UEVLD_HUMAN	F	155;117;155;133;133;155	ENSP00000442974:L155F;ENSP00000441092:L117F;ENSP00000379500:L155F;ENSP00000323353:L133F;ENSP00000368697:L133F	ENSP00000300038:L155F	L	-	3	2	UEVLD	18544498	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.764000	0.38471	2.835000	0.97688	0.650000	0.86243	TTG		0.368	UEVLD-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395923.2	NM_018314	
OR10AG1	282770	broad.mit.edu	37	11	55735344	55735344	+	Missense_Mutation	SNP	G	G	A	rs200642883	byFrequency	TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:55735344G>A	ENST00000312345.2	-	1	646	c.596C>T	c.(595-597)aCg>aTg	p.T199M		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AAATGGCACCGTGATAAACAC	0.408													G|||	2	0.000399361	0.0	0.0029	5008	,	,		20787	0.0		0.0	False		,,,				2504	0.0					uc010rit.1																			0				skin(2)	2						c.(595-597)ACG>ATG		olfactory receptor, family 10, subfamily AG,							82.0	81.0	82.0					11																	55735344		2201	4296	6497	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735344G>A	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.596C>T	11.37:g.55735344G>A	ENSP00000311477:p.Thr199Met						p.T199M	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			1	596	-	Esophageal squamous(21;0.0137)		199			Helical; Name=5; (Potential).		B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.596C>T	CCDS31514.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	0.006	-2.026808	0.00410	.	.	ENSG00000174970	ENST00000312345	T	0.37058	1.22	5.37	0.337	0.15966	GPCR, rhodopsin-like superfamily (1);	0.939183	0.08882	N	0.879979	T	0.14313	0.0346	N	0.03294	-0.36	0.09310	N	1	B	0.25272	0.122	B	0.15484	0.013	T	0.29150	-1.0021	10	0.11794	T	0.64	.	8.8808	0.35374	0.5823:0.0:0.4177:0.0	.	199	Q8NH19	O10AG_HUMAN	M	199	ENSP00000311477:T199M	ENSP00000311477:T199M	T	-	2	0	OR10AG1	55491920	0.000000	0.05858	0.001000	0.08648	0.512000	0.34134	-0.051000	0.11885	-0.161000	0.10983	-0.499000	0.04595	ACG		0.408	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491	
OR10AG1	282770	broad.mit.edu	37	11	55735807	55735807	+	Missense_Mutation	SNP	C	C	T	rs139897319	byFrequency	TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:55735807C>T	ENST00000312345.2	-	1	183	c.133G>A	c.(133-135)Gct>Act	p.A45T		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GTCTGGAGAGCGGGGTGAATT	0.348													C|||	8	0.00159744	0.0061	0.0	5008	,	,		16496	0.0		0.0	False		,,,				2504	0.0					uc010rit.1																			0				skin(2)	2						c.(133-135)GCT>ACT		olfactory receptor, family 10, subfamily AG,		C	THR/ALA	28,4368	32.6+/-62.9	0,28,2170	50.0	57.0	55.0		133	-7.2	0.0	11	dbSNP_134	55	0,8586		0,0,4293	yes	missense	OR10AG1	NM_001005491.1	58	0,28,6463	TT,TC,CC		0.0,0.6369,0.2157	benign	45/302	55735807	28,12954	2198	4293	6491	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735807C>T	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.133G>A	11.37:g.55735807C>T	ENSP00000311477:p.Ala45Thr						p.A45T	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			1	133	-	Esophageal squamous(21;0.0137)		45			Cytoplasmic (Potential).		B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.133G>A	CCDS31514.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	4.675	0.125533	0.08931	0.006369	0.0	ENSG00000174970	ENST00000312345	T	0.00438	7.42	5.27	-7.17	0.01511	GPCR, rhodopsin-like superfamily (1);	2.269630	0.01687	N	0.026449	T	0.00109	0.0003	N	0.11892	0.195	0.09310	N	1	B	0.27559	0.181	B	0.15870	0.014	T	0.46034	-0.9220	10	0.12430	T	0.62	.	3.7373	0.08515	0.0988:0.2023:0.1696:0.5292	.	45	Q8NH19	O10AG_HUMAN	T	45	ENSP00000311477:A45T	ENSP00000311477:A45T	A	-	1	0	OR10AG1	55492383	0.000000	0.05858	0.000000	0.03702	0.224000	0.24922	-7.645000	0.00032	-0.990000	0.03481	0.398000	0.26397	GCT		0.348	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491	
SLC22A10	387775	broad.mit.edu	37	11	63071595	63071595	+	Missense_Mutation	SNP	G	G	A	rs112720090	byFrequency	TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:63071595G>A	ENST00000332793.6	+	8	1303	c.1301G>A	c.(1300-1302)cGt>cAt	p.R434H	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000544661.1_Missense_Mutation_p.V233M	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	434						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	CAGACCCTGCGTGTGGCTTTG	0.453													G|||	6	0.00119808	0.0045	0.0	5008	,	,		17216	0.0		0.0	False		,,,				2504	0.0					uc009yor.2																			0				ovary(2)	2						c.(1300-1302)CGT>CAT		solute carrier family 22, member 10		G	HIS/ARG	24,4194		1,22,2086	177.0	183.0	181.0		1301	1.0	0.1	11	dbSNP_132	181	2,8534		0,2,4266	yes	missense	SLC22A10	NM_001039752.3	29	1,24,6352	AA,AG,GG		0.0234,0.569,0.2039	probably-damaging	434/542	63071595	26,12728	2109	4268	6377	SO:0001583	missense	387775					integral to membrane	transmembrane transporter activity	g.chr11:63071595G>A	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"""Solute carriers"""	18057	protein-coding gene	gene with protein product		607580	"""solute carrier family 22 (organic anion/cation transporter), member 10"""			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.1301G>A	11.37:g.63071595G>A	ENSP00000327569:p.Arg434His					SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_Missense_Mutation_p.V228M	p.R434H	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN			8	1509	+			434			Cytoplasmic (Potential).		Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	c.1301G>A	CCDS41661.1	2|2	9.157509157509158E-4|9.157509157509158E-4	2|2	0.0040650406504065045|0.0040650406504065045	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	10.26|10.26	1.301140|1.301140	0.23650|0.23650	0.00569|0.00569	2.34E-4|2.34E-4	ENSG00000184999|ENSG00000184999	ENST00000332793|ENST00000544661	T|T	0.74209|0.70399	-0.82|-0.48	3.05|3.05	0.999|0.999	0.19862|0.19862	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.62097|0.62097	0.2400|0.2400	H|H	0.94542|0.94542	3.55|3.55	0.30645|0.30645	N|N	0.75608|0.75608	B|P	0.33345|0.44776	0.409|0.843	B|B	0.34931|0.31614	0.192|0.133	T|T	0.68002|0.68002	-0.5524|-0.5524	10|9	0.54805|0.56958	T|D	0.06|0.05	.|.	3.972|3.972	0.09457|0.09457	0.1358:0.0:0.6338:0.2305|0.1358:0.0:0.6338:0.2305	.|.	434|228	Q63ZE4|E9PJB1	S22AA_HUMAN|.	H|M	434|233	ENSP00000327569:R434H|ENSP00000445667:V233M	ENSP00000327569:R434H|ENSP00000433817:V228M	R|V	+|+	2|1	0|0	SLC22A10|SLC22A10	62828171|62828171	0.952000|0.952000	0.32445|0.32445	0.109000|0.109000	0.21407|0.21407	0.224000|0.224000	0.24922|0.24922	2.097000|2.097000	0.41748|0.41748	0.145000|0.145000	0.18977|0.18977	0.579000|0.579000	0.79373|0.79373	CGT|GTG		0.453	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752	
NAALADL1	10004	broad.mit.edu	37	11	64820765	64820765	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:64820765C>T	ENST00000358658.3	-	8	1150	c.1123G>A	c.(1123-1125)Ggg>Agg	p.G375R	NAALADL1_ENST00000339885.2_Missense_Mutation_p.G375R|NAALADL1_ENST00000355369.2_Missense_Mutation_p.G375R|NAALADL1_ENST00000340252.4_Missense_Mutation_p.G426R|NAALADL1_ENST00000355721.3_Missense_Mutation_p.G334R|NAALADL1_ENST00000356632.3_Missense_Mutation_p.G340R	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	375	NAALADase.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						TCCACAGCCCCGTGCACCCAG	0.672																																						uc001ocn.2																			0					0						c.(1123-1125)GGG>AGG		N-acetylated alpha-linked acidic							20.0	17.0	18.0					11																	64820765		2176	4274	6450	SO:0001583	missense	10004				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:64820765C>T	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.1123G>A	11.37:g.64820765C>T	ENSP00000351484:p.Gly375Arg					NAALADL1_uc010rnw.1_5'UTR	p.G375R	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN			8	1139	-			375			NAALADase.|Extracellular (Potential).		C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	ENST00000358658.3	37	c.1123G>A	CCDS31604.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576387	0.86645	.	.	ENSG00000168060	ENST00000358658;ENST00000355369;ENST00000339885;ENST00000453486;ENST00000340252;ENST00000355721;ENST00000356632	D;D;D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09;-3.09;-3.09	4.27	4.27	0.50696	Peptidase M28 (1);	0.057770	0.64402	D	0.000001	D	0.97235	0.9096	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.98310	1.0523	10	0.87932	D	0	-10.7899	14.2012	0.65705	0.0:1.0:0.0:0.0	.	375	Q9UQQ1	NALDL_HUMAN	R	375;375;375;375;426;334;340	ENSP00000351484:G375R;ENSP00000347530:G375R;ENSP00000340111:G375R;ENSP00000344244:G426R;ENSP00000347955:G334R;ENSP00000349045:G340R	ENSP00000340111:G375R	G	-	1	0	NAALADL1	64577341	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	6.271000	0.72569	2.198000	0.70561	0.655000	0.94253	GGG		0.672	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468	
PCNXL3	399909	broad.mit.edu	37	11	65402835	65402835	+	Silent	SNP	G	G	A	rs375263170		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:65402835G>A	ENST00000355703.3	+	31	5639	c.5100G>A	c.(5098-5100)gcG>gcA	p.A1700A	MIR4690_ENST00000578459.1_RNA|SIPA1_ENST00000534313.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1700						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCCTGCTGGCGCTGCGCCATG	0.632													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17409	0.0		0.0	False		,,,				2504	0.0					uc001oey.2																			0					0						c.(5098-5100)GCG>GCA		pecanex-like 3		G		10,4146		0,10,2068	21.0	22.0	22.0		5100	-8.1	0.7	11		22	0,8386		0,0,4193	no	coding-synonymous	PCNXL3	NM_032223.2		0,10,6261	AA,AG,GG		0.0,0.2406,0.0797		1700/2035	65402835	10,12532	2078	4193	6271	SO:0001819	synonymous_variant	399909					integral to membrane		g.chr11:65402835G>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.5100G>A	11.37:g.65402835G>A						PCNXL3_uc001oez.2_Silent_p.A587A	p.A1700A	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN			31	5100	+			1700					Q6MZN8	Silent	SNP	ENST00000355703.3	37	c.5100G>A	CCDS44650.1																																																																																				0.632	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223	
GDF3	9573	broad.mit.edu	37	12	7842931	7842931	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:7842931C>T	ENST00000329913.3	-	2	685	c.638G>A	c.(637-639)gGg>gAg	p.G213E		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	213			G -> R (in dbSNP:rs12819884). {ECO:0000269|PubMed:15489334}.		endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AAAATTCACCCCTGAGTCTCT	0.493																																						uc001qte.2																			0				skin(3)|ovary(1)|lung(1)|central_nervous_system(1)	6						c.(637-639)GGG>GAG		growth differentiation factor 3 precursor							82.0	82.0	82.0					12																	7842931		2203	4300	6503	SO:0001583	missense	9573				eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:7842931C>T	AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"""Endogenous ligands"""	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.638G>A	12.37:g.7842931C>T	ENSP00000331745:p.Gly213Glu						p.G213E	NM_020634	NP_065685	Q9NR23	GDF3_HUMAN			2	674	-			213					Q8NEJ4	Missense_Mutation	SNP	ENST00000329913.3	37	c.638G>A	CCDS8581.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637613	0.29157	.	.	ENSG00000184344	ENST00000329913	T	0.63744	-0.06	4.61	-6.16	0.02098	Transforming growth factor-beta, N-terminal (1);	1.057280	0.07259	N	0.867224	T	0.42223	0.1193	L	0.54323	1.7	0.09310	N	1	B	0.10296	0.003	B	0.15052	0.012	T	0.45731	-0.9241	10	0.02654	T	1	.	1.9933	0.03451	0.1162:0.256:0.3455:0.2823	.	213	Q9NR23	GDF3_HUMAN	E	213	ENSP00000331745:G213E	ENSP00000331745:G213E	G	-	2	0	GDF3	7734198	0.001000	0.12720	0.000000	0.03702	0.437000	0.31866	0.418000	0.21230	-0.906000	0.03866	-0.258000	0.10820	GGG		0.493	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1		
NELL2	4753	broad.mit.edu	37	12	45173691	45173691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:45173691C>T	ENST00000429094.2	-	4	954	c.450G>A	c.(448-450)tgG>tgA	p.W150*	NELL2_ENST00000333837.4_Nonsense_Mutation_p.W173*|NELL2_ENST00000551601.1_Nonsense_Mutation_p.W149*|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000549027.1_Nonsense_Mutation_p.W149*|NELL2_ENST00000452445.2_Nonsense_Mutation_p.W150*|NELL2_ENST00000395487.2_Nonsense_Mutation_p.W149*|NELL2_ENST00000437801.2_Nonsense_Mutation_p.W200*	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	150	Laminin G-like.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		AGAGCTTGTGCCACTTGTCAT	0.438																																						uc001rog.2																			0				skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(448-450)TGG>TGA		NEL-like protein 2 isoform b precursor							166.0	147.0	153.0					12																	45173691		2203	4300	6503	SO:0001587	stop_gained	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45173691C>T	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.450G>A	12.37:g.45173691C>T	ENSP00000390680:p.Trp150*					NELL2_uc001rof.3_Nonsense_Mutation_p.W149*|NELL2_uc001roh.2_Nonsense_Mutation_p.W150*|NELL2_uc009zkd.2_Nonsense_Mutation_p.W149*|NELL2_uc010skz.1_Nonsense_Mutation_p.W200*|NELL2_uc010sla.1_Nonsense_Mutation_p.W173*|NELL2_uc001roi.1_Nonsense_Mutation_p.W150*|NELL2_uc010slb.1_Nonsense_Mutation_p.W149*|NELL2_uc001roj.2_Nonsense_Mutation_p.W150*	p.W150*	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	4	1045	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	150			TSP N-terminal.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Nonsense_Mutation	SNP	ENST00000429094.2	37	c.450G>A	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	33	5.265725	0.95399	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000552993;ENST00000553120	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.0223	19.4004	0.94627	0.0:1.0:0.0:0.0	.	.	.	.	X	149;150;149;150;149;173;200;149;150;147	.	ENSP00000327988:W173X	W	-	3	0	NELL2	43459958	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.771000	0.85420	2.577000	0.86979	0.655000	0.94253	TGG		0.438	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159	
ARID2	196528	broad.mit.edu	37	12	46245949	46245949	+	Missense_Mutation	SNP	A	A	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:46245949A>T	ENST00000334344.6	+	15	4215	c.4043A>T	c.(4042-4044)gAt>gTt	p.D1348V	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.D1199V|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Missense_Mutation_p.D958V	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1348					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GACATGCAAGATATCAAAAGT	0.358			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1				Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					0				ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(4042-4044)GAT>GTT		AT rich interactive domain 2 (ARID, RFX-like)							67.0	65.0	66.0					12																	46245949		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245949A>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.4043A>T	12.37:g.46245949A>T	ENSP00000335044:p.Asp1348Val					ARID2_uc001ror.2_Missense_Mutation_p.D1348V|ARID2_uc009zkg.1_Missense_Mutation_p.D804V|ARID2_uc009zkh.1_Missense_Mutation_p.D975V|ARID2_uc001rou.1_Missense_Mutation_p.D682V	p.D1348V	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	4043	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1348					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.4043A>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.813391	0.32053	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	T	0.34667	1.35	6.07	6.07	0.98685	.	0.180691	0.64402	D	0.000017	T	0.33876	0.0878	N	0.14661	0.345	0.80722	D	1	P;P;P	0.49783	0.741;0.928;0.624	P;P;B	0.49226	0.448;0.603;0.261	T	0.25152	-1.0140	10	0.87932	D	0	-8.8496	16.6288	0.85011	1.0:0.0:0.0:0.0	.	1348;958;1348	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	V	1348;465;465;1199;958	ENSP00000335044:D1348V	ENSP00000335044:D1348V	D	+	2	0	ARID2	44532216	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	3.233000	0.51311	2.326000	0.78906	0.533000	0.62120	GAT		0.358	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875	
KRT78	196374	broad.mit.edu	37	12	53242331	53242331	+	Splice_Site	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:53242331C>T	ENST00000304620.4	-	1	447	c.384G>A	c.(382-384)aaG>aaA	p.K128K	KRT78_ENST00000359499.4_5'Flank	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	128	Coil 1A.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						TGACCCTCACCTTGTCAATGA	0.537																																						uc001sbc.1																			0				ovary(2)	2						c.(382-384)AAG>AAA		keratin 5b							85.0	78.0	81.0					12																	53242331		2203	4300	6503	SO:0001630	splice_region_variant	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53242331C>T	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.384+1G>A	12.37:g.53242331C>T							p.K128K	NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN			1	448	-			128			Coil 1A.|Rod.		A8K4D6|Q5HYM7|Q7RTT2	Silent	SNP	ENST00000304620.4	37	c.384G>A	CCDS8840.1																																																																																				0.537	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352	Silent
SLC8B1	80024	broad.mit.edu	37	12	113770568	113770568	+	Missense_Mutation	SNP	T	T	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:113770568T>A	ENST00000552014.1	-	3	631	c.116A>T	c.(115-117)cAg>cTg	p.Q39L	SLC8B1_ENST00000202831.3_Missense_Mutation_p.Q39L|SLC8B1_ENST00000553238.1_5'UTR|SLC8B1_ENST00000546737.1_Missense_Mutation_p.Q39L			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	39					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										AGCTGGAAACTGGGGGCTAAT	0.557																																						uc001tvc.2																			0				central_nervous_system(1)	1						c.(115-117)CAG>CTG		solute carrier family 24 member 6 precursor							58.0	53.0	55.0					12																	113770568		2203	4300	6503	SO:0001583	missense	80024				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113770568T>A	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.116A>T	12.37:g.113770568T>A	ENSP00000447091:p.Gln39Leu					SLC24A6_uc001tvd.1_Missense_Mutation_p.Q39L	p.Q39L	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN			2	326	-			39			Extracellular (Potential).		A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Missense_Mutation	SNP	ENST00000552014.1	37	c.116A>T	CCDS31909.1	.	.	.	.	.	.	.	.	.	.	t	8.234	0.805209	0.16467	.	.	ENSG00000089060	ENST00000552014;ENST00000202831;ENST00000377458;ENST00000546737;ENST00000549181;ENST00000548186;ENST00000549372	T;T;T;T	0.59224	0.28;0.28;0.28;1.96	3.58	-6.25	0.02039	.	1.042900	0.07693	U	0.938998	T	0.39784	0.1091	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26430	-1.0103	10	0.24483	T	0.36	.	1.6066	0.02685	0.1624:0.1995:0.4033:0.2347	.	39	Q6J4K2	NCKX6_HUMAN	L	39	ENSP00000447091:Q39L;ENSP00000202831:Q39L;ENSP00000450081:Q39L;ENSP00000448703:Q39L	ENSP00000202831:Q39L	Q	-	2	0	SLC24A6	112254951	0.010000	0.17322	0.000000	0.03702	0.001000	0.01503	-0.571000	0.05889	-1.263000	0.02455	-1.374000	0.01184	CAG		0.557	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959	
TBX5	6910	broad.mit.edu	37	12	114832695	114832695	+	Missense_Mutation	SNP	T	T	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:114832695T>A	ENST00000310346.4	-	6	1180	c.514A>T	c.(514-516)Att>Ttt	p.I172F	TBX5_ENST00000526441.1_Missense_Mutation_p.I172F|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000405440.2_Missense_Mutation_p.I172F|TBX5_ENST00000349716.5_Missense_Mutation_p.I122F	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	172					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GAATTTAGAATAATCTAAAAA	0.368																																					NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2																			0				ovary(6)|pancreas(1)|skin(1)	8						c.(514-516)ATT>TTT		T-box 5 isoform 1							105.0	116.0	112.0					12																	114832695		2203	4300	6503	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114832695T>A	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.514A>T	12.37:g.114832695T>A	ENSP00000309913:p.Ile172Phe					TBX5_uc001tvp.2_Missense_Mutation_p.I172F|TBX5_uc001tvq.2_Missense_Mutation_p.I122F|TBX5_uc010syv.1_Missense_Mutation_p.I172F	p.I172F	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	6	1009	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		172			T-box.		A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.514A>T	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.939610	0.92526	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	5.75	5.75	0.90469	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.92743	0.7693	L	0.50993	1.605	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76071	0.974;0.987	D	0.93430	0.6784	10	0.87932	D	0	.	16.3473	0.83146	0.0:0.0:0.0:1.0	.	172;172	Q99593-2;Q99593	.;TBX5_HUMAN	F	122;172;69;172;172	ENSP00000337723:I122F;ENSP00000309913:I172F;ENSP00000384152:I172F;ENSP00000433292:I172F	ENSP00000309913:I172F	I	-	1	0	TBX5	113317078	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.320000	0.78422	0.528000	0.53228	ATT		0.368	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717	
TAOK3	51347	broad.mit.edu	37	12	118639103	118639103	+	Frame_Shift_Del	DEL	C	C	-			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:118639103delC	ENST00000392533.3	-	12	1475	c.985delG	c.(985-987)gaafs	p.E329fs	TAOK3_ENST00000419821.2_Frame_Shift_Del_p.E329fs	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	329					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAACCTACTTCCTCATCCTCC	0.368																																						uc001twx.2																			0				lung(5)|central_nervous_system(1)	6						c.(985-987)GAAfs		TAO kinase 3							136.0	125.0	128.0					12																	118639103		2203	4300	6503	SO:0001589	frameshift_variant	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118639103delC	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.985delG	12.37:g.118639103delC	ENSP00000376317:p.Glu329fs					TAOK3_uc001tww.2_Frame_Shift_Del_p.E159fs|TAOK3_uc001twy.3_Frame_Shift_Del_p.E329fs	p.E329fs	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN			12	1280	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		329					Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Frame_Shift_Del	DEL	ENST00000392533.3	37	c.985delG	CCDS9188.1																																																																																				0.368	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281	
UCHL3	7347	broad.mit.edu	37	13	76134909	76134909	+	Silent	SNP	A	A	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr13:76134909A>T	ENST00000377595.3	+	3	105	c.75A>T	c.(73-75)ctA>ctT	p.L25L	RP11-29G8.3_ENST00000563635.1_RNA	NM_001270952.1|NM_006002.4	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)	25					protein catabolic process (GO:0030163)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		AATTAGGTCTACATCCTAACT	0.333																																						uc001vjq.2																			0					0						c.(73-75)CTA>CTT		ubiquitin carboxyl-terminal esterase L3							90.0	81.0	84.0					13																	76134909		2203	4300	6503	SO:0001819	synonymous_variant	7347				ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity	g.chr13:76134909A>T	M30496	CCDS9453.1, CCDS73586.1	13q21.33	2008-02-05			ENSG00000118939	ENSG00000118939	3.2.1.15		12515	protein-coding gene	gene with protein product		603090				2530630	Standard	NM_001270952		Approved		uc001vjq.4	P15374	OTTHUMG00000017090	ENST00000377595.3:c.75A>T	13.37:g.76134909A>T						UCHL3_uc001vjr.2_5'UTR	p.L25L	NM_006002	NP_005993	P15374	UCHL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0125)	3	105	+			25					B2R970|Q5TBK8|Q6IBE9	Silent	SNP	ENST00000377595.3	37	c.75A>T	CCDS9453.1																																																																																				0.333	UCHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045292.2	NM_006002	
POTEG	404785	broad.mit.edu	37	14	19553823	19553823	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:19553823G>A	ENST00000409832.3	+	1	459	c.407G>A	c.(406-408)cGt>cAt	p.R136H		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	136								p.R136H(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TACCACGTCCGTCGAGAAGAT	0.577																																						uc001vuz.1																			1	Substitution - Missense(1)	p.R136H(1)	ovary(1)	ovary(1)	1						c.(406-408)CGT>CAT		POTE ankyrin domain family, member G							93.0	102.0	99.0					14																	19553823		1602	3367	4969	SO:0001583	missense	404785							g.chr14:19553823G>A		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.407G>A	14.37:g.19553823G>A	ENSP00000386971:p.Arg136His					POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	p.R136H	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			1	459	+			136					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.407G>A	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	5.784	0.328972	0.10956	.	.	ENSG00000222036	ENST00000409832	T	0.53206	0.63	1.47	-2.95	0.05564	.	.	.	.	.	T	0.34687	0.0906	L	0.50333	1.59	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.24657	-1.0154	9	0.39692	T	0.17	.	4.5394	0.12049	0.0:0.4621:0.3049:0.2331	.	136	Q6S5H5	POTEG_HUMAN	H	136	ENSP00000386971:R136H	ENSP00000386971:R136H	R	+	2	0	POTEG	18623823	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.250000	0.08830	-0.851000	0.04147	-0.715000	0.03620	CGT		0.577	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356	
OXA1L	5018	broad.mit.edu	37	14	23239044	23239044	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:23239044G>A	ENST00000604262.1	+	4	507	c.484G>A	c.(484-486)Ggc>Agc	p.G162S	OXA1L_ENST00000285848.5_Missense_Mutation_p.G222S|OXA1L_ENST00000358043.5_Missense_Mutation_p.G146S|OXA1L_ENST00000412791.1_Missense_Mutation_p.G162S			Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	162					aerobic respiration (GO:0009060)|mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex I biogenesis (GO:0097031)|negative regulation of ATPase activity (GO:0032780)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|protein complex assembly (GO:0006461)|protein insertion into membrane (GO:0051205)|protein tetramerization (GO:0051262)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	mitochondrial ribosome binding (GO:0097177)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		CATCGTGACGGGCCAGCGAGA	0.488																																						uc001wgn.2																			0				central_nervous_system(1)	1						c.(664-666)GGC>AGC		oxidase (cytochrome c) assembly 1-like							661.0	632.0	642.0					14																	23239044		2203	4300	6503	SO:0001583	missense	5018				aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding	g.chr14:23239044G>A		CCDS9573.1	14q11.2	2009-05-26			ENSG00000155463	ENSG00000155463			8526	protein-coding gene	gene with protein product		601066				8586451, 19349278	Standard	NM_005015		Approved	MGC133129, OXA1	uc001wgn.2	Q15070	OTTHUMG00000028691	ENST00000604262.1:c.484G>A	14.37:g.23239044G>A	ENSP00000474623:p.Gly162Ser					OXA1L_uc001wgo.2_RNA|OXA1L_uc010akc.2_Missense_Mutation_p.G222S|OXA1L_uc001wgp.2_Missense_Mutation_p.G146S|OXA1L_uc001wgq.2_5'UTR	p.G222S	NM_005015	NP_005006	Q15070	OXA1L_HUMAN		GBM - Glioblastoma multiforme(265;0.0096)	4	664	+	all_cancers(95;8.44e-05)		162			Mitochondrial intermembrane (Potential).		B4DPA2	Missense_Mutation	SNP	ENST00000604262.1	37	c.664G>A		.	.	.	.	.	.	.	.	.	.	G	18.53	3.643811	0.67244	.	.	ENSG00000155463	ENST00000285848;ENST00000431881;ENST00000412791;ENST00000358043	T;T;T	0.26810	1.71;1.74;1.75	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.35998	0.0951	N	0.17901	0.54	0.80722	D	1	P;B;D	0.89917	0.906;0.246;1.0	P;B;D	0.87578	0.801;0.444;0.998	T	0.04930	-1.0917	10	0.12766	T	0.61	-17.5114	19.2492	0.93917	0.0:0.0:1.0:0.0	.	162;162;222	E7EVY0;Q15070;Q2M1J6	.;OXA1L_HUMAN;.	S	222;31;162;146	ENSP00000285848:G222S;ENSP00000387601:G162S;ENSP00000350740:G146S	ENSP00000285848:G222S	G	+	1	0	OXA1L	22308884	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.987000	0.88182	2.840000	0.97914	0.655000	0.94253	GGC		0.488	OXA1L-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468876.1	NM_005015	
PCK2	5106	broad.mit.edu	37	14	24567814	24567814	+	Silent	SNP	T	T	C	rs371225237		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:24567814T>C	ENST00000216780.4	+	4	859	c.591T>C	c.(589-591)ccT>ccC	p.P197P	PCK2_ENST00000396973.4_Silent_p.P197P|PCK2_ENST00000561286.1_Silent_p.P63P|PCK2_ENST00000558096.1_Silent_p.P63P|NRL_ENST00000561028.1_Intron|PCK2_ENST00000545054.2_Silent_p.P63P|PCK2_ENST00000559250.1_Silent_p.P209P	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	197					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		TGGGGACACCTGTGCTTCAGG	0.617																																						uc001wlt.2																			0				ovary(1)	1						c.(589-591)CCT>CCC		mitochondrial phosphoenolpyruvate carboxykinase		T	,	1,4405	2.1+/-5.4	0,1,2202	77.0	59.0	65.0		591,591	-11.0	0.0	14		65	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PCK2	NM_001018073.1,NM_004563.2	,	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	,	197/442,197/641	24567814	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5106				gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24567814T>C	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.591T>C	14.37:g.24567814T>C						NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Silent_p.P209P|PCK2_uc001wls.2_Silent_p.P197P|PCK2_uc010tnw.1_Silent_p.P63P|PCK2_uc010ald.2_Silent_p.P49P|PCK2_uc010ale.2_Silent_p.P63P|PCK2_uc010tnx.1_Silent_p.P63P|PCK2_uc001wlu.3_Silent_p.P63P	p.P197P	NM_004563	NP_004554	Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	4	723	+			197					O43253|Q86U01|Q9BV62	Silent	SNP	ENST00000216780.4	37	c.591T>C	CCDS9609.1																																																																																				0.617	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073	
FOXG1	2290	broad.mit.edu	37	14	29237322	29237322	+	Silent	SNP	C	C	T	rs570340475		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:29237322C>T	ENST00000313071.4	+	1	1036	c.837C>T	c.(835-837)acC>acT	p.T279T	RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000546560.1_RNA|FOXG1_ENST00000382535.3_Silent_p.T279T|RP11-966I7.1_ENST00000549487.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	279					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GCTCCACCACCTCGCGGGCCA	0.701													C|||	1	0.000199681	0.0	0.0	5008	,	,		11517	0.0		0.001	False		,,,				2504	0.0					uc001wqe.2																			0				ovary(2)|lung(2)	4						c.(835-837)ACC>ACT		forkhead box G1							29.0	34.0	32.0					14																	29237322		2201	4298	6499	SO:0001819	synonymous_variant	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237322C>T		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.837C>T	14.37:g.29237322C>T							p.T279T	NM_005249	NP_005240	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	1	1036	+			279					A6NFY2|P55315|Q14488|Q86XT7	Silent	SNP	ENST00000313071.4	37	c.837C>T	CCDS9636.1																																																																																				0.701	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3		
TDRD9	122402	broad.mit.edu	37	14	104488645	104488645	+	Missense_Mutation	SNP	G	G	A	rs201957950		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:104488645G>A	ENST00000409874.4	+	24	2632	c.2584G>A	c.(2584-2586)Gtc>Atc	p.V862I	TDRD9_ENST00000339063.5_Missense_Mutation_p.V862I	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	862					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				AGGCATGAACGTCTCAAAGCT	0.448													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19665	0.0		0.0	False		,,,				2504	0.0					uc001yom.3																			0				ovary(2)|central_nervous_system(1)	3						c.(2584-2586)GTC>ATC		tudor domain containing 9							92.0	76.0	81.0					14																	104488645		2203	4300	6503	SO:0001583	missense	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104488645G>A	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.2584G>A	14.37:g.104488645G>A	ENSP00000387303:p.Val862Ile					TDRD9_uc001yon.3_Missense_Mutation_p.V600I	p.V862I	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN			24	2614	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	862					A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	c.2584G>A	CCDS9987.2	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	0.013|0.013	-1.633736|-1.633736	0.00806|0.00806	.|.	.|.	ENSG00000156414|ENSG00000156414	ENST00000557332|ENST00000409874;ENST00000339063	.|T;T	.|0.03242	.|4.0;4.0	5.6|5.6	3.79|3.79	0.43588|0.43588	.|.	.|0.122808	.|0.36066	.|N	.|0.002813	T|T	0.02533|0.02533	0.0077|0.0077	N|N	0.20685|0.20685	0.6|0.6	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B	.|0.14012	.|0.009;0.002	.|B;B	.|0.08055	.|0.003;0.002	T|T	0.47636|0.47636	-0.9102|-0.9102	5|10	.|0.11794	.|T	.|0.64	.|.	9.4174|9.4174	0.38530|0.38530	0.2162:0.0:0.7838:0.0|0.2162:0.0:0.7838:0.0	.|.	.|862;862	.|Q8NDG6-2;Q8NDG6	.|.;TDRD9_HUMAN	H|I	588|862	.|ENSP00000387303:V862I;ENSP00000343545:V862I	.|ENSP00000343545:V862I	R|V	+|+	2|1	0|0	TDRD9|TDRD9	103558398|103558398	0.001000|0.001000	0.12720|0.12720	0.006000|0.006000	0.13384|0.13384	0.002000|0.002000	0.02628|0.02628	0.672000|0.672000	0.25187|0.25187	0.739000|0.739000	0.32628|0.32628	-0.143000|-0.143000	0.13931|0.13931	CGT|GTC		0.448	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046	
PLD4	122618	broad.mit.edu	37	14	105397140	105397140	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:105397140C>T	ENST00000392593.4	+	7	947	c.779C>T	c.(778-780)aCc>aTc	p.T260I	PLD4_ENST00000553861.1_5'Flank|PLD4_ENST00000540372.1_Missense_Mutation_p.T267I	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	260					glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)			CTGGAGAAGACCTTCCAGACC	0.572																																						uc001ypu.1																			0				central_nervous_system(1)|skin(1)	2						c.(778-780)ACC>ATC		phospholipase D4	Choline(DB00122)						95.0	103.0	100.0					14																	105397140		1958	4137	6095	SO:0001583	missense	122618				lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity	g.chr14:105397140C>T		CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428			23792	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 175"""	C14orf175			Standard	XM_006720024		Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000392593.4:c.779C>T	14.37:g.105397140C>T	ENSP00000376372:p.Thr260Ile					PLD4_uc010tyl.1_Missense_Mutation_p.T267I	p.T260I	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		7	920	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	260					Q6UWD2	Missense_Mutation	SNP	ENST00000392593.4	37	c.779C>T	CCDS9995.2	.	.	.	.	.	.	.	.	.	.	C	4.546	0.101426	0.08731	.	.	ENSG00000166428	ENST00000540372;ENST00000392593	T;T	0.12255	2.7;2.7	4.62	1.75	0.24633	Phospholipase D/viral envelope (1);	0.199432	0.42964	D	0.000632	T	0.03959	0.0111	N	0.03050	-0.425	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.40440	-0.9563	10	0.02654	T	1	-2.7649	7.6541	0.28365	0.0:0.659:0.0:0.341	.	267;260	F5H2B5;Q96BZ4	.;PLD4_HUMAN	I	267;260	ENSP00000438677:T267I;ENSP00000376372:T260I	ENSP00000376372:T260I	T	+	2	0	PLD4	104468185	0.993000	0.37304	0.999000	0.59377	0.999000	0.98932	1.817000	0.39002	0.483000	0.27608	0.655000	0.94253	ACC		0.572	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000291348.2	NM_138790	
GPR132	29933	broad.mit.edu	37	14	105518239	105518239	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:105518239C>T	ENST00000329797.3	-	4	1146	c.235G>A	c.(235-237)Gtc>Atc	p.V79I	GPR132_ENST00000539291.2_Missense_Mutation_p.V79I|GPR132_ENST00000392585.2_Missense_Mutation_p.V70I|GPR132_ENST00000546679.1_5'UTR	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	79					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		AGCAGGTAGACGGCCAGCACG	0.657																																						uc001yqd.2																			0				ovary(2)|central_nervous_system(1)	3						c.(235-237)GTC>ATC		G protein-coupled receptor 132							78.0	74.0	75.0					14																	105518239		2203	4300	6503	SO:0001583	missense	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105518239C>T	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"""GPCR / Class A : Orphans"""	17482	protein-coding gene	gene with protein product	"""G2 accumulation"""	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.235G>A	14.37:g.105518239C>T	ENSP00000328818:p.Val79Ile					GPR132_uc001yqc.2_5'UTR|GPR132_uc001yqe.2_Missense_Mutation_p.V70I	p.V79I	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	1134	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	79			Cytoplasmic (Potential).		A8K7X7|B4E144|Q9BSU2	Missense_Mutation	SNP	ENST00000329797.3	37	c.235G>A	CCDS9997.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068934	0.36470	.	.	ENSG00000183484	ENST00000329797;ENST00000392585;ENST00000539291	T;T;T	0.70749	-0.51;-0.51;-0.51	4.83	2.97	0.34412	GPCR, rhodopsin-like superfamily (1);	0.157188	0.43747	D	0.000540	T	0.44307	0.1287	N	0.17248	0.465	0.34023	D	0.652852	P;P	0.48294	0.908;0.908	B;B	0.37144	0.242;0.242	T	0.54938	-0.8218	10	0.08381	T	0.77	.	8.8361	0.35113	0.0:0.7366:0.0:0.2634	.	70;79	B4E144;Q9UNW8	.;GP132_HUMAN	I	79;70;79	ENSP00000328818:V79I;ENSP00000376364:V70I;ENSP00000438094:V79I	ENSP00000328818:V79I	V	-	1	0	GPR132	104589284	0.010000	0.17322	0.995000	0.50966	0.704000	0.40688	0.322000	0.19576	1.016000	0.39470	0.462000	0.41574	GTC		0.657	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345	
PLA2G4F	255189	broad.mit.edu	37	15	42442026	42442026	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr15:42442026C>T	ENST00000382396.4	-	11	1030	c.944G>A	c.(943-945)cGc>cAc	p.R315H	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.R315H			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	315	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		AAAGCCAAGGCGTAGGTCTAG	0.632																																						uc001zoz.2																			0				ovary(4)	4						c.(943-945)CGC>CAC		phospholipase A2, group IVF							77.0	74.0	75.0					15																	42442026		2203	4299	6502	SO:0001583	missense	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42442026C>T		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.944G>A	15.37:g.42442026C>T	ENSP00000371833:p.Arg315His					PLA2G4F_uc001zoy.2_5'Flank|PLA2G4F_uc010bcr.2_Missense_Mutation_p.R66H|PLA2G4F_uc001zpa.2_Missense_Mutation_p.R66H|PLA2G4F_uc010bcs.2_Missense_Mutation_p.R102H	p.R315H	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	11	1007	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	315			PLA2c.		Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	c.944G>A	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675256	0.88445	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000357924;ENST00000443825	T;T	0.13657	2.57;2.57	4.72	4.72	0.59763	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.222293	0.31031	N	0.008398	T	0.37100	0.0991	M	0.67625	2.065	0.41747	D	0.989644	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.14448	-1.0472	10	0.59425	D	0.04	-23.2013	17.4585	0.87614	0.0:1.0:0.0:0.0	.	102;315	A2RRC4;Q68DD2	.;PA24F_HUMAN	H	311;315;315;315;315	ENSP00000380442:R315H;ENSP00000371833:R315H	ENSP00000290497:R311H	R	-	2	0	PLA2G4F	40229318	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	5.584000	0.67490	2.455000	0.83008	0.655000	0.94253	CGC		0.632	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600	
TLN2	83660	broad.mit.edu	37	15	63055766	63055766	+	Missense_Mutation	SNP	A	A	C			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr15:63055766A>C	ENST00000561311.1	+	39	5196	c.4966A>C	c.(4966-4968)Aag>Cag	p.K1656Q	TLN2_ENST00000472902.1_Missense_Mutation_p.K49Q|TLN2_ENST00000306829.6_Missense_Mutation_p.K1656Q			Q9Y4G6	TLN2_HUMAN	talin 2	1656					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TTCCAGGGACAAGGCCCCTGG	0.617																																						uc002alb.3																			0				ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(4966-4968)AAG>CAG		talin 2							71.0	58.0	63.0					15																	63055766		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63055766A>C	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.4966A>C	15.37:g.63055766A>C	ENSP00000453508:p.Lys1656Gln					TLN2_uc002alc.3_Missense_Mutation_p.K49Q|TLN2_uc002ald.2_Missense_Mutation_p.K49Q	p.K1656Q	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			37	4966	+			1656					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.4966A>C	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	A	15.88	2.962533	0.53400	.	.	ENSG00000171914	ENST00000306829	T	0.68903	-0.36	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.77711	0.4171	M	0.75447	2.3	0.48762	D	0.999705	D;P	0.59357	0.985;0.948	P;P	0.57911	0.829;0.68	T	0.77991	-0.2379	10	0.37606	T	0.19	-23.059	15.1304	0.72517	1.0:0.0:0.0:0.0	.	700;1656	G1UI21;Q9Y4G6	.;TLN2_HUMAN	Q	1656	ENSP00000303476:K1656Q	ENSP00000303476:K1656Q	K	+	1	0	TLN2	60843058	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.256000	0.78350	1.977000	0.57605	0.533000	0.62120	AAG		0.617	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		
C15orf39	56905	broad.mit.edu	37	15	75503308	75503308	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr15:75503308G>A	ENST00000360639.2	+	3	3315	c.2995G>A	c.(2995-2997)Ggc>Agc	p.G999S	RP11-69H7.3_ENST00000563568.1_RNA|C15orf39_ENST00000567617.1_3'UTR|C15orf39_ENST00000394987.4_Missense_Mutation_p.G999S			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	999						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CAGCCCACCTGGCCCCACACT	0.662																																						uc002azp.3																			0					0						c.(2995-2997)GGC>AGC		hypothetical protein LOC56905							43.0	39.0	40.0					15																	75503308		2197	4295	6492	SO:0001583	missense	56905							g.chr15:75503308G>A	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.2995G>A	15.37:g.75503308G>A	ENSP00000353854:p.Gly999Ser					C15orf39_uc002azq.3_Missense_Mutation_p.G999S|C15orf39_uc002azr.3_3'UTR	p.G999S	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN			3	3315	+			999					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	c.2995G>A	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180454	0.38511	.	.	ENSG00000167173	ENST00000360639;ENST00000394987;ENST00000446981	T;T	0.24151	1.87;1.87	4.24	0.726	0.18248	.	0.261679	0.31347	N	0.007811	T	0.22085	0.0532	L	0.34521	1.04	0.20638	N	0.999875	P	0.41393	0.748	P	0.47206	0.541	T	0.09079	-1.0691	10	0.87932	D	0	-6.8065	5.8279	0.18564	0.4777:0.0:0.5223:0.0	.	999	Q6ZRI6	CO039_HUMAN	S	999;999;397	ENSP00000353854:G999S;ENSP00000378438:G999S	ENSP00000353854:G999S	G	+	1	0	C15orf39	73290361	0.579000	0.26725	0.068000	0.19968	0.360000	0.29518	0.791000	0.26915	0.036000	0.15547	0.462000	0.41574	GGC		0.662	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492	
C15orf27	123591	broad.mit.edu	37	15	76496348	76496348	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr15:76496348C>T	ENST00000388942.3	+	11	1564	c.1288C>T	c.(1288-1290)Cca>Tca	p.P430S		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	430					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CCCGCCGCTGCCATCCCAGCA	0.701																																						uc002bbq.2																			0					0						c.(1288-1290)CCA>TCA		hypothetical protein LOC123591							15.0	18.0	17.0					15																	76496348		2192	4285	6477	SO:0001583	missense	123591					integral to membrane		g.chr15:76496348C>T	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.1288C>T	15.37:g.76496348C>T	ENSP00000373594:p.Pro430Ser					C15orf27_uc010bkp.2_Missense_Mutation_p.P246S|C15orf27_uc002bbr.2_Missense_Mutation_p.P246S|C15orf27_uc002bbs.2_Missense_Mutation_p.P108S	p.P430S	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN			11	1443	+			430					Q8N993|Q96LL5	Missense_Mutation	SNP	ENST00000388942.3	37	c.1288C>T	CCDS10289.2	.	.	.	.	.	.	.	.	.	.	C	11.78	1.742135	0.30865	.	.	ENSG00000169758	ENST00000388942	T	0.29142	1.58	4.9	3.98	0.46160	.	0.683004	0.14505	N	0.315479	T	0.20618	0.0496	L	0.29908	0.895	0.39604	D	0.969774	B;B	0.33940	0.433;0.035	B;B	0.27887	0.084;0.023	T	0.06023	-1.0850	10	0.51188	T	0.08	-7.9195	9.124	0.36803	0.0:0.898:0.0:0.102	.	394;430	Q2M3C6-2;Q2M3C6	.;CO027_HUMAN	S	430	ENSP00000373594:P430S	ENSP00000373594:P430S	P	+	1	0	C15orf27	74283403	0.000000	0.05858	0.034000	0.17996	0.443000	0.32047	-0.351000	0.07711	1.046000	0.40249	0.455000	0.32223	CCA		0.701	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335	
WASH3P	374666	broad.mit.edu	37	15	102515335	102515335	+	RNA	SNP	C	C	G	rs201001946		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr15:102515335C>G	ENST00000557932.1	+	0	1181				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.L386V(3)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GGAGCGAAAGCTGGAGAAGAA	0.652																																						uc002cdi.2																			3	Substitution - Missense(3)		prostate(2)|kidney(1)		0						c.(559-561)CTG>GTG		RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2;																																						374666							g.chr15:102515335C>G			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515335C>G						WASH3P_uc002cdl.2_Missense_Mutation_p.L187V|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.L187V|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA	p.L187V	NR_003659						9	1979	+									Missense_Mutation	SNP	ENST00000557932.1	37	c.559C>G		.	.	.	.	.	.	.	.	.	.	c	1.538	-0.542507	0.04053	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.125321	0.53938	D	0.000056	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-11.5249	7.9382	0.29941	0.0:1.0:0.0:0.0	.	.	.	.	V	395;386	.	.	L	+	1	2	WASH3P	100332858	1.000000	0.71417	0.999000	0.59377	0.392000	0.30506	1.146000	0.31589	0.863000	0.35553	0.184000	0.17185	CTG		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163	
DECR2	26063	broad.mit.edu	37	16	460737	460737	+	Missense_Mutation	SNP	G	G	A	rs370736528		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr16:460737G>A	ENST00000219481.5	+	6	647	c.509G>A	c.(508-510)cGg>cAg	p.R170Q	DECR2_ENST00000461947.1_3'UTR|DECR2_ENST00000424398.2_Missense_Mutation_p.R158Q	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	170					unsaturated fatty acid biosynthetic process (GO:0006636)	peroxisomal membrane (GO:0005778)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				CTGGGGAACCGGGGGCAGGCG	0.701																																						uc002chb.2																			0					0						c.(508-510)CGG>CAG		2,4-dienoyl CoA reductase 2		G	GLN/ARG	0,4382		0,0,2191	17.0	21.0	20.0		509	4.7	0.9	16		20	1,8591		0,1,4295	no	missense	DECR2	NM_020664.3	43	0,1,6486	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	170/293	460737	1,12973	2191	4296	6487	SO:0001583	missense	26063					peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding	g.chr16:460737G>A	AJ293009	CCDS10409.1	16p13.3	2011-09-14			ENSG00000242612	ENSG00000242612	1.3.1.34	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2754	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 17C, member 1"""	615839				11514237, 19027726	Standard	NM_020664		Approved	PDCR, SDR17C1	uc002chb.3	Q9NUI1	OTTHUMG00000047846	ENST00000219481.5:c.509G>A	16.37:g.460737G>A	ENSP00000219481:p.Arg170Gln					DECR2_uc002chc.2_Missense_Mutation_p.R86Q|DECR2_uc010bqv.2_Missense_Mutation_p.R86Q|DECR2_uc002chd.2_Missense_Mutation_p.R86Q|DECR2_uc002che.1_RNA	p.R170Q	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN			6	615	+		Hepatocellular(16;0.00015)	170					Q6ZRS7|Q96ET0	Missense_Mutation	SNP	ENST00000219481.5	37	c.509G>A	CCDS10409.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.176144	0.38413	0.0	1.16E-4	ENSG00000242612	ENST00000219481;ENST00000424398	T;T	0.51325	0.71;0.71	5.65	4.69	0.59074	NAD(P)-binding domain (1);	0.196912	0.52532	D	0.000076	T	0.33904	0.0879	L	0.35854	1.095	0.80722	D	1	P	0.37207	0.587	B	0.30401	0.115	T	0.11641	-1.0579	10	0.27785	T	0.31	.	13.0965	0.59195	0.077:0.0:0.923:0.0	.	170	Q9NUI1	DECR2_HUMAN	Q	170;158	ENSP00000219481:R170Q;ENSP00000400374:R158Q	ENSP00000219481:R170Q	R	+	2	0	DECR2	400738	1.000000	0.71417	0.876000	0.34364	0.509000	0.34042	6.355000	0.73041	2.674000	0.91012	0.555000	0.69702	CGG		0.701	DECR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109069.4	NM_020664	
IGFALS	3483	broad.mit.edu	37	16	1841525	1841525	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr16:1841525G>A	ENST00000215539.3	-	2	1004	c.894C>T	c.(892-894)tcC>tcT	p.S298S	IGFALS_ENST00000415638.3_Silent_p.S336S			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	298					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						TGGCGTTGTGGGACAGCCGCA	0.687																																						uc002cmy.2																			0					0						c.(892-894)TCC>TCT		insulin-like growth factor binding protein, acid							18.0	18.0	18.0					16																	1841525		2183	4293	6476	SO:0001819	synonymous_variant	3483				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding	g.chr16:1841525G>A	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.894C>T	16.37:g.1841525G>A						IGFALS_uc010uvn.1_Silent_p.S336S|IGFALS_uc010uvo.1_5'UTR	p.S298S	NM_004970	NP_004961	P35858	ALS_HUMAN			2	975	-			298			LRR 10.		B4DZY8|E9PGU3	Silent	SNP	ENST00000215539.3	37	c.894C>T	CCDS10446.1																																																																																				0.687	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2		
PRSS22	64063	broad.mit.edu	37	16	2903295	2903295	+	Silent	SNP	G	G	A	rs377055758		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr16:2903295G>A	ENST00000161006.3	-	6	818	c.753C>T	c.(751-753)gaC>gaT	p.D251D	PRSS22_ENST00000574768.1_5'Flank|PRSS22_ENST00000571228.1_Silent_p.D141D	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	251	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GCCAGGCGCCGTCCACCTGGC	0.711																																						uc002cry.1																			0				central_nervous_system(1)	1						c.(751-753)GAC>GAT		protease, serine, 22 precursor		G		1,4311		0,1,2155	10.0	12.0	11.0		753	-8.1	0.0	16		11	2,8452		0,2,4225	no	coding-synonymous	PRSS22	NM_022119.3		0,3,6380	AA,AG,GG		0.0237,0.0232,0.0235		251/318	2903295	3,12763	2156	4227	6383	SO:0001819	synonymous_variant	64063				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:2903295G>A	AF321182	CCDS10481.1	16p13.3	2010-05-07			ENSG00000005001	ENSG00000005001		"""Serine peptidases / Serine peptidases"""	14368	protein-coding gene	gene with protein product	"""brain-specific serine protease 4"""	609343				11602603, 15701722	Standard	XM_005255473		Approved	hBSSP-4, BSSP-4, SP001LA	uc002cry.1	Q9GZN4	OTTHUMG00000128961	ENST00000161006.3:c.753C>T	16.37:g.2903295G>A						PRSS22_uc002crz.1_Silent_p.D141D	p.D251D	NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN			6	819	-			251			Peptidase S1.		O43342|Q6UXE0	Silent	SNP	ENST00000161006.3	37	c.753C>T	CCDS10481.1																																																																																				0.711	PRSS22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250943.1	NM_022119	
DNAH3	55567	broad.mit.edu	37	16	21045351	21045351	+	Silent	SNP	G	G	A	rs143127393	byFrequency	TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr16:21045351G>A	ENST00000261383.3	-	36	5141	c.5142C>T	c.(5140-5142)ggC>ggT	p.G1714G	DNAH3_ENST00000415178.1_Silent_p.G1714G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1714	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGGTCTTGCCGCCCATGGGGT	0.498													G|||	2	0.000399361	0.0	0.0014	5008	,	,		19099	0.001		0.0	False		,,,				2504	0.0					uc010vbe.1																			0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(5140-5142)GGC>GGT		dynein, axonemal, heavy chain 3		G		0,4402		0,0,2201	100.0	87.0	92.0		5142	-9.8	0.3	16	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DNAH3	NM_017539.1		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		1714/4117	21045351	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21045351G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.5142C>T	16.37:g.21045351G>A							p.G1714G	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	36	5142	-			1714			ATP (Potential).|AAA 2 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.5142C>T	CCDS10594.1																																																																																				0.498	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
ITGAD	3681	broad.mit.edu	37	16	31427865	31427865	+	Silent	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr16:31427865C>T	ENST00000389202.2	+	20	2446	c.2397C>T	c.(2395-2397)aaC>aaT	p.N799N		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	799					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGGAGCTCAACGTGATTGTGA	0.617																																						uc002ebv.1																			0				skin(1)	1						c.(2395-2397)AAC>AAT		integrin, alpha D precursor							116.0	105.0	109.0					16																	31427865		2197	4300	6497	SO:0001819	synonymous_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31427865C>T	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2397C>T	16.37:g.31427865C>T						ITGAD_uc010cap.1_Silent_p.N800N	p.N799N	NM_005353	NP_005344	Q13349	ITAD_HUMAN			20	2446	+			799			Extracellular (Potential).		Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	c.2397C>T	CCDS32438.1																																																																																				0.617	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353	
ZFHX3	463	broad.mit.edu	37	16	72993903	72993903	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr16:72993903C>A	ENST00000268489.5	-	2	814	c.142G>T	c.(142-144)Ggg>Tgg	p.G48W	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	48					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCCAAGGGCCCGTGGCTCTCG	0.667																																						uc002fck.2																			0				ovary(2)|skin(2)	4						c.(142-144)GGG>TGG		zinc finger homeobox 3 isoform A							85.0	87.0	86.0					16																	72993903		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72993903C>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.142G>T	16.37:g.72993903C>A	ENSP00000268489:p.Gly48Trp					ZFHX3_uc002fcl.2_Intron	p.G48W	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			2	815	-		Ovarian(137;0.13)	48					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.142G>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.007316	0.35415	.	.	ENSG00000140836	ENST00000268489	T	0.74106	-0.81	5.11	5.11	0.69529	.	0.000000	0.51477	D	0.000100	T	0.75488	0.3856	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79647	-0.1716	10	0.72032	D	0.01	.	13.8511	0.63496	0.0:0.9244:0.0:0.0756	.	48	Q15911	ZFHX3_HUMAN	W	48	ENSP00000268489:G48W	ENSP00000268489:G48W	G	-	1	0	ZFHX3	71551404	0.996000	0.38824	1.000000	0.80357	0.906000	0.53458	0.597000	0.24059	2.379000	0.81126	0.462000	0.41574	GGG		0.667	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885	
USP22	23326	broad.mit.edu	37	17	20924447	20924447	+	Silent	SNP	G	G	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:20924447G>T	ENST00000261497.4	-	3	600	c.397C>A	c.(397-399)Cga>Aga	p.R133R	USP22_ENST00000537526.2_Silent_p.R121R|USP22_ENST00000455117.2_Intron	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	133					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						CAAGCTTTTCGCTGCTCCTCC	0.478																																						uc002gym.3																			0				lung(1)	1						c.(397-399)CGA>AGA		ubiquitin thiolesterase 22							91.0	93.0	93.0					17																	20924447		2017	4182	6199	SO:0001819	synonymous_variant	23326				cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr17:20924447G>T	AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"""Ubiquitin-specific peptidases"""	12621	protein-coding gene	gene with protein product		612116	"""ubiquitin specific protease 22"", ""ubiquitin specific peptidase 3-like"""	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.397C>A	17.37:g.20924447G>T						USP22_uc002gyn.3_Silent_p.R121R|USP22_uc002gyl.3_Silent_p.R28R	p.R133R	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN			3	601	-			133					A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Silent	SNP	ENST00000261497.4	37	c.397C>A	CCDS42285.1																																																																																				0.478	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444169.1		
KIF2B	84643	broad.mit.edu	37	17	51901070	51901070	+	Nonsense_Mutation	SNP	C	C	T	rs543871191	byFrequency	TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:51901070C>T	ENST00000268919.4	+	1	832	c.676C>T	c.(676-678)Cga>Tga	p.R226*		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	226	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)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCTCAACCAGCGAGAGACAAC	0.557													C|||	2	0.000399361	0.0	0.0	5008	,	,		19824	0.0		0.0	False		,,,				2504	0.002					uc002iua.2																			0				ovary(5)|skin(3)	8						c.(676-678)CGA>TGA		kinesin family member 2B							99.0	83.0	88.0					17																	51901070		2203	4300	6503	SO:0001587	stop_gained	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901070C>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.676C>T	17.37:g.51901070C>T	ENSP00000268919:p.Arg226*					uc010wna.1_RNA	p.R226*	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	832	+			226			Kinesin-motor.		Q96MA2|Q9BXG6	Nonsense_Mutation	SNP	ENST00000268919.4	37	c.676C>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	34	5.365537	0.95900	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	.	.	.	5.52	2.12	0.27331	.	0.484231	0.16808	N	0.198692	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	8.0487	0.30564	0.4756:0.4495:0.0:0.0749	.	.	.	.	X	226;149	.	ENSP00000268919:R226X	R	+	1	2	KIF2B	49256069	0.470000	0.25854	0.399000	0.26333	0.851000	0.48451	0.739000	0.26173	0.215000	0.20761	-0.169000	0.13324	CGA		0.557	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559	
MARCH10	162333	broad.mit.edu	37	17	60879073	60879073	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:60879073C>A	ENST00000311269.5	-	2	298	c.24G>T	c.(22-24)agG>agT	p.R8S	MARCH10_ENST00000583600.1_Missense_Mutation_p.R8S|MARCH10_ENST00000456609.2_Missense_Mutation_p.R8S|MARCH10_ENST00000544856.2_Missense_Mutation_p.R8S	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	8					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R8R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						AGAACTTCTGCCTGTCCCTTG	0.453																																						uc010ddr.2																			1	Substitution - coding silent(1)		large_intestine(1)		0						c.(22-24)AGG>AGT		ring finger protein 190							192.0	149.0	163.0					17																	60879073		2203	4300	6503	SO:0001583	missense	162333						ligase activity|zinc ion binding	g.chr17:60879073C>A	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.24G>T	17.37:g.60879073C>A	ENSP00000311496:p.Arg8Ser					MARCH10_uc002jag.3_Missense_Mutation_p.R8S|MARCH10_uc010dds.2_Missense_Mutation_p.R8S|MARCH10_uc002jah.2_Missense_Mutation_p.R8S	p.R8S	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN			2	262	-			8					D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	37	c.24G>T	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.682160	0.29872	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.21932	1.98;1.98;1.98	5.59	3.62	0.41486	.	0.000000	0.45867	D	0.000336	T	0.41696	0.1170	M	0.71581	2.175	0.36323	D	0.85835	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.994;0.997;0.994	T	0.50154	-0.8861	10	0.87932	D	0	-15.3064	8.534	0.33351	0.0:0.824:0.0:0.176	.	8;8;8	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	S	8	ENSP00000416177:R8S;ENSP00000311496:R8S;ENSP00000443746:R8S	ENSP00000311496:R8S	R	-	3	2	MARCH10	58232805	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	0.707000	0.25704	0.727000	0.32360	0.561000	0.74099	AGG		0.453	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598	
LRRC37A3	374819	broad.mit.edu	37	17	62856062	62856062	+	Missense_Mutation	SNP	A	A	C			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:62856062A>C	ENST00000584306.1	-	11	4732	c.4202T>G	c.(4201-4203)gTt>gGt	p.V1401G	LRRC37A3_ENST00000334962.5_Missense_Mutation_p.V378G|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.V439G|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.V1401G|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.V519G	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1401						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTCCATAAAAACATTTTCTTC	0.368																																						uc002jey.2																			0					0						c.(4201-4203)GTT>GGT		leucine rich repeat containing 37, member A3							46.0	48.0	47.0					17																	62856062		2182	4223	6405	SO:0001583	missense	374819					integral to membrane		g.chr17:62856062A>C	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.4202T>G	17.37:g.62856062A>C	ENSP00000464535:p.Val1401Gly					LRRC37A3_uc010wqg.1_Missense_Mutation_p.V519G|LRRC37A3_uc002jex.1_Missense_Mutation_p.V378G|LRRC37A3_uc010wqf.1_Missense_Mutation_p.V439G|LRRC37A3_uc010dek.1_Missense_Mutation_p.V407G	p.V1401G	NM_199340	NP_955372	O60309	L37A3_HUMAN			11	4733	-			1401			Extracellular (Potential).		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	c.4202T>G	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	3.402	-0.122087	0.06795	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.59083	1.49;1.49;0.29	2.07	-2.26	0.06867	.	.	.	.	.	T	0.34513	0.0900	N	0.22421	0.69	0.09310	N	1	B;B	0.33583	0.418;0.182	B;B	0.32289	0.143;0.099	T	0.21552	-1.0242	9	0.52906	T	0.07	.	2.1844	0.03882	0.3651:0.0:0.3737:0.2611	.	519;1401	B4DG20;O60309	.;L37A3_HUMAN	G	482;439;378;1401	ENSP00000383674:V439G;ENSP00000335617:V378G;ENSP00000325713:V1401G	ENSP00000325713:V1401G	V	-	2	0	LRRC37A3	60286524	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.843000	0.04350	-0.396000	0.07703	0.155000	0.16302	GTT		0.368	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340	
HELZ	9931	broad.mit.edu	37	17	65119252	65119252	+	Missense_Mutation	SNP	A	A	G	rs373787062		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:65119252A>G	ENST00000358691.5	-	26	3630	c.3464T>C	c.(3463-3465)aTt>aCt	p.I1155T	HELZ_ENST00000580168.1_Missense_Mutation_p.I1156T	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1155						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGGATTGCCAATAAGTACAGA	0.388																																						uc010wqk.1																			0				ovary(1)|pancreas(1)	2						c.(3466-3468)ATT>ACT		helicase with zinc finger domain		A	THR/ILE	0,3716		0,0,1858	63.0	63.0	63.0		3464	5.6	1.0	17		63	1,8207		0,1,4103	no	missense	HELZ	NM_014877.3	89	0,1,5961	GG,GA,AA		0.0122,0.0,0.0084	benign	1155/1943	65119252	1,11923	1858	4104	5962	SO:0001583	missense	9931							g.chr17:65119252A>G	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.3464T>C	17.37:g.65119252A>G	ENSP00000351524:p.Ile1155Thr					HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.I1155T	p.I1156T	NM_014877	NP_055692					26	3654	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.3467T>C	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.405790	0.42715	0.0	1.22E-4	ENSG00000198265	ENST00000358691	D	0.83419	-1.72	5.64	5.64	0.86602	.	0.128223	0.64402	D	0.000001	T	0.77363	0.4119	N	0.14661	0.345	0.54753	D	0.999988	P;P	0.52842	0.956;0.956	P;P	0.49999	0.628;0.628	T	0.76753	-0.2843	10	0.26408	T	0.33	-15.3199	16.1564	0.81670	1.0:0.0:0.0:0.0	.	1156;1155	B7ZLW2;P42694	.;HELZ_HUMAN	T	1155	ENSP00000351524:I1155T	ENSP00000351524:I1155T	I	-	2	0	HELZ	62549714	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.678000	0.91211	2.274000	0.75844	0.528000	0.53228	ATT		0.388	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877	
KIF19	124602	broad.mit.edu	37	17	72345437	72345437	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:72345437C>T	ENST00000389916.4	+	10	1300	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	388					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GCAGACTGGGCGGGGCCAGGC	0.662																																						uc002jkm.3																			0					0						c.(1162-1164)CGG>TGG		kinesin family member 19							36.0	34.0	35.0					17																	72345437		2202	4300	6502	SO:0001583	missense	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72345437C>T	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1162C>T	17.37:g.72345437C>T	ENSP00000374566:p.Arg388Trp					KIF19_uc002jkj.2_Missense_Mutation_p.R388W|KIF19_uc002jkk.2_Missense_Mutation_p.R346W|KIF19_uc002jkl.2_Missense_Mutation_p.R346W	p.R388W	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN			10	1300	+			388			Potential.		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	c.1162C>T	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812893	0.50527	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.74947	-0.89;-0.62	5.28	0.807	0.18714	.	.	.	.	.	T	0.65439	0.2691	L	0.58101	1.795	0.28071	N	0.932582	B;B;B;B	0.19583	0.037;0.016;0.036;0.036	B;B;B;B	0.18263	0.009;0.004;0.021;0.008	T	0.59484	-0.7446	9	0.66056	D	0.02	.	3.5048	0.07686	0.1364:0.5749:0.1325:0.1562	.	388;346;346;388	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	W	346;388	ENSP00000449134:R346W;ENSP00000374566:R388W	ENSP00000374566:R388W	R	+	1	2	KIF19	69857032	0.843000	0.29541	0.802000	0.32245	0.931000	0.56810	0.894000	0.28350	0.219000	0.20840	0.449000	0.29647	CGG		0.662	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209	
CBX2	84733	broad.mit.edu	37	17	77758656	77758656	+	Missense_Mutation	SNP	G	G	A	rs199672117		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:77758656G>A	ENST00000310942.4	+	5	1518	c.1414G>A	c.(1414-1416)Gac>Aac	p.D472N		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	472					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTCCGACCCCGACTCCGCCTC	0.662													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15403	0.0		0.0	False		,,,				2504	0.0					uc002jxc.2																			0					0						c.(1414-1416)GAC>AAC		chromobox homolog 2 isoform 1							40.0	38.0	39.0					17																	77758656		2203	4300	6503	SO:0001583	missense	84733				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	g.chr17:77758656G>A	BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"""Pc class homolog (Drosophila)"""	602770	"""chromobox homolog 2 (Drosophila Pc class)"", ""cell division cycle associated 6"""	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.1414G>A	17.37:g.77758656G>A	ENSP00000308750:p.Asp472Asn						p.D472N	NM_005189	NP_005180	Q14781	CBX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1456	+			472					Q0VDA5|Q9BTB1	Missense_Mutation	SNP	ENST00000310942.4	37	c.1414G>A	CCDS32757.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.10	2.435734	0.43224	.	.	ENSG00000173894	ENST00000310942	.	.	.	5.45	4.45	0.53987	.	0.598230	0.17719	N	0.164308	T	0.66086	0.2754	M	0.61703	1.905	0.80722	D	1	D	0.65815	0.995	P	0.53146	0.719	T	0.66582	-0.5887	9	0.42905	T	0.14	-5.3823	15.5871	0.76491	0.0:0.0:0.8618:0.1382	.	472	Q14781	CBX2_HUMAN	N	472	.	ENSP00000308750:D472N	D	+	1	0	CBX2	75373251	1.000000	0.71417	0.148000	0.22405	0.004000	0.04260	7.722000	0.84778	2.568000	0.86640	0.650000	0.86243	GAC		0.662	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	NM_032647	
FOXK2	3607	broad.mit.edu	37	17	80521333	80521333	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:80521333G>A	ENST00000335255.5	+	2	697	c.523G>A	c.(523-525)Gta>Ata	p.V175I		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	175					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			AGTGAAGGCCGTACAGCCACA	0.582																																						uc002kfn.2																			0					0						c.(523-525)GTA>ATA		forkhead box K2							155.0	100.0	119.0					17																	80521333		2203	4300	6503	SO:0001583	missense	3607				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:80521333G>A	U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"""Forkhead boxes"""	6036	protein-coding gene	gene with protein product		147685	"""interleukin enhancer binding factor 1"""	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.523G>A	17.37:g.80521333G>A	ENSP00000335677:p.Val175Ile					FOXK2_uc002kfm.1_Missense_Mutation_p.V175I|FOXK2_uc010diu.2_Missense_Mutation_p.V175I	p.V175I	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)		2	694	+	Breast(20;0.00106)|all_neural(118;0.0952)		175					A6NEP5|Q13622|Q13623|Q13624	Missense_Mutation	SNP	ENST00000335255.5	37	c.523G>A	CCDS11813.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.730801	0.69074	.	.	ENSG00000141568	ENST00000535184;ENST00000335255;ENST00000335241;ENST00000526383	D;D	0.95001	-3.24;-3.58	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.94571	0.8251	L	0.47716	1.5	0.50467	D	0.999871	P;D;D	0.63046	0.744;0.977;0.992	B;P;P	0.51324	0.179;0.465;0.666	D	0.93190	0.6582	10	0.34782	T	0.22	.	20.1577	0.98120	0.0:0.0:1.0:0.0	.	175;175;175	Q01167-3;Q01167;Q01167-2	.;FOXK2_HUMAN;.	I	171;175;175;55	ENSP00000335677:V175I;ENSP00000432663:V55I	ENSP00000334321:V175I	V	+	1	0	FOXK2	78114622	1.000000	0.71417	0.999000	0.59377	0.608000	0.37181	7.429000	0.80309	2.767000	0.95098	0.655000	0.94253	GTA		0.582	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2	NM_181430	
CCDC102B	79839	broad.mit.edu	37	18	66504203	66504204	+	In_Frame_Ins	INS	-	-	TAT			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr18:66504203_66504204insTAT	ENST00000360242.5	+	2	320_321	c.203_204insTAT	c.(202-207)gatatt>gaTATtatt	p.69_70insI	CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000319445.6_In_Frame_Ins_p.69_70insI|CCDC102B_ENST00000584156.1_In_Frame_Ins_p.69_70insI|CCDC102B_ENST00000358653.5_In_Frame_Ins_p.69_70insI	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	69										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AACAAATGGGATATTTGTGAAG	0.505																																						uc002lkk.2																			0				ovary(1)|lung(1)|skin(1)	3						c.(202-204)GAT>GATATT		coiled-coil domain containing 102B																																				SO:0001652	inframe_insertion	79839							g.chr18:66504203_66504204insTAT	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.204_206dupTAT	18.37:g.66504204_66504206dupTAT	ENSP00000353377:p.Ile69_Ile69dup					CCDC102B_uc002lki.2_In_Frame_Ins_p.69_70insI|CCDC102B_uc002lkj.1_In_Frame_Ins_p.69_70insI	p.69_70insI	NM_001093729	NP_001087198	Q68D86	C102B_HUMAN			4	426_427	+		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)	69_70					Q7Z467|Q8NDK7|Q9H5C1	In_Frame_Ins	INS	ENST00000360242.5	37	c.203_204insTAT	CCDS11996.2																																																																																				0.505	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781	
LRRC8E	80131	broad.mit.edu	37	19	7963647	7963647	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:7963647G>T	ENST00000306708.6	+	3	341	c.240G>T	c.(238-240)caG>caT	p.Q80H		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	80					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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						TCCCTGAGCAGATTGGGGCCC	0.522																																						uc002mir.2																			0				lung(1)|pancreas(1)	2						c.(238-240)CAG>CAT		leucine rich repeat containing 8 family, member							92.0	94.0	93.0					19																	7963647		2203	4300	6503	SO:0001583	missense	80131					integral to membrane		g.chr19:7963647G>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.240G>T	19.37:g.7963647G>T	ENSP00000306524:p.Gln80His						p.Q80H	NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN			3	341	+			80					B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	ENST00000306708.6	37	c.240G>T	CCDS12189.1	.	.	.	.	.	.	.	.	.	.	G	3.043	-0.197111	0.06259	.	.	ENSG00000171017	ENST00000306708	T	0.26957	1.7	5.19	-2.33	0.06724	.	1.016960	0.07854	N	0.965091	T	0.16257	0.0391	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38585	-0.9654	10	0.62326	D	0.03	.	1.959	0.03382	0.1545:0.3632:0.2346:0.2477	.	80	Q6NSJ5	LRC8E_HUMAN	H	80	ENSP00000306524:Q80H	ENSP00000306524:Q80H	Q	+	3	2	LRRC8E	7869647	0.000000	0.05858	0.891000	0.34965	0.190000	0.23558	-0.428000	0.06991	0.071000	0.16664	-0.140000	0.14226	CAG		0.522	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061	
ZNF844	284391	broad.mit.edu	37	19	12187275	12187275	+	Missense_Mutation	SNP	G	G	C	rs376579156	byFrequency	TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:12187275G>C	ENST00000439326.3	+	4	1515	c.1340G>C	c.(1339-1341)cGt>cCt	p.R447P	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	447					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.R447P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCGTATGAGTGTA	0.433																																						uc002mtb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1339-1341)CGT>CCT		zinc finger protein 844							60.0	54.0	56.0					19																	12187275		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187275G>C	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1340G>C	19.37:g.12187275G>C	ENSP00000392024:p.Arg447Pro					ZNF844_uc010dym.1_Missense_Mutation_p.R290P	p.R447P	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN			4	1483	+			447					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1340G>C	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	T	0.637	-0.814748	0.02776	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.03717	3.83	2.88	-3.56	0.04626	.	.	.	.	.	T	0.00524	0.0017	N	0.00049	-2.415	0.51482	D	0.999921	B	0.02656	0.0	B	0.01281	0.0	T	0.45175	-0.9279	9	0.02654	T	1	.	2.6221	0.04919	0.1164:0.4107:0.122:0.3509	.	447	Q08AG5	ZN844_HUMAN	P	447	ENSP00000392024:R447P	ENSP00000392024:R447P	R	+	2	0	ZNF844	12048275	0.000000	0.05858	0.012000	0.15200	0.001000	0.01503	-7.066000	0.00045	-0.984000	0.03507	-4.296000	0.00007	CGT		0.433	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2		
TNPO2	30000	broad.mit.edu	37	19	12817567	12817567	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:12817567G>T	ENST00000592287.1	-	13	1421	c.1313C>A	c.(1312-1314)cCg>cAg	p.P438Q	TNPO2_ENST00000588216.1_Missense_Mutation_p.P438Q|SNORD41_ENST00000386967.1_RNA|TNPO2_ENST00000441499.1_Missense_Mutation_p.P438Q|TNPO2_ENST00000450764.2_Missense_Mutation_p.P438Q|TNPO2_ENST00000356861.5_Missense_Mutation_p.P438Q|TNPO2_ENST00000425528.1_Missense_Mutation_p.P438Q	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	438					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GATCAGGTGCGGGATCAGCTC	0.632																																						uc002muo.2																			0				ovary(1)	1						c.(1312-1314)CCG>CAG		transportin 2 (importin 3, karyopherin beta 2b)							27.0	28.0	27.0					19																	12817567		2163	4268	6431	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12817567G>T	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.1313C>A	19.37:g.12817567G>T	ENSP00000468434:p.Pro438Gln					TNPO2_uc002mup.2_Missense_Mutation_p.P530Q|TNPO2_uc002muq.2_Missense_Mutation_p.P438Q|TNPO2_uc002mur.2_Missense_Mutation_p.P438Q|SNORD41_uc002mut.1_5'Flank	p.P438Q	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN			13	1498	-			438			HEAT 7.		O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.1313C>A	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556608	0.86231	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.15	5.15	0.70609	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67230	0.2871	M	0.89968	3.075	0.80722	D	1	D;D	0.65815	0.995;0.995	D;P	0.68192	0.956;0.799	T	0.75496	-0.3297	10	0.87932	D	0	-24.4003	17.4031	0.87466	0.0:0.0:1.0:0.0	.	602;438	Q4LE60;O14787	.;TNPO2_HUMAN	Q	602;438;438;438;438;438;438	ENSP00000407182:P438Q;ENSP00000389648:P438Q;ENSP00000397379:P438Q;ENSP00000349321:P438Q	ENSP00000349321:P438Q	P	-	2	0	TNPO2	12678567	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	9.405000	0.97313	2.409000	0.81822	0.655000	0.94253	CCG		0.632	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433	
ZNF676	163223	broad.mit.edu	37	19	22363820	22363820	+	Silent	SNP	A	A	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:22363820A>T	ENST00000397121.2	-	3	1016	c.699T>A	c.(697-699)gcT>gcA	p.A233A		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ATCGATTAAAAGCTTTGCCAC	0.358																																						uc002nqs.1																			0					0						c.(697-699)GCT>GCA		zinc finger protein 676							74.0	81.0	79.0					19																	22363820		2173	4286	6459	SO:0001819	synonymous_variant	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363820A>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.699T>A	19.37:g.22363820A>T							p.A233A	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1017	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	233			C2H2-type 3.		A8MVX5	Silent	SNP	ENST00000397121.2	37	c.699T>A	CCDS42539.1																																																																																				0.358	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411	
RYR1	6261	broad.mit.edu	37	19	38983254	38983254	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:38983254G>A	ENST00000359596.3	+	38	6252	c.6252G>A	c.(6250-6252)cgG>cgA	p.R2084R	RYR1_ENST00000355481.4_Silent_p.R2084R|RYR1_ENST00000360985.3_Silent_p.R2084R			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2084	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGGAGGAGCGGTCAGCAGAGG	0.627																																						uc002oit.2																			0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(6250-6252)CGG>CGA		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						44.0	40.0	41.0					19																	38983254		2202	4300	6502	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38983254G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.6252G>A	19.37:g.38983254G>A						RYR1_uc002oiu.2_Silent_p.R2084R	p.R2084R	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		38	6382	+	all_cancers(60;7.91e-06)		2084			Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.6252G>A	CCDS33011.1																																																																																				0.627	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
TIMM50	92609	broad.mit.edu	37	19	39972604	39972604	+	Frame_Shift_Del	DEL	A	A	-			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:39972604delA	ENST00000607714.1	+	2	212	c.190delA	c.(190-192)aaafs	p.K65fs	TIMM50_ENST00000599794.1_Intron|TIMM50_ENST00000314349.4_Frame_Shift_Del_p.K168fs|TIMM50_ENST00000544017.1_5'UTR			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	65					cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGCTATGCCAAAAAAGTTGC	0.607																																						uc002olu.1																			0				ovary(1)	1						c.(499-501)AAAfs		translocase of inner mitochondrial membrane 50							114.0	123.0	120.0					19																	39972604		2203	4300	6503	SO:0001589	frameshift_variant	92609				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding	g.chr19:39972604delA	BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	23656	protein-coding gene	gene with protein product		607381	"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000607714.1:c.190delA	19.37:g.39972604delA	ENSP00000475531:p.Lys65fs					TIMM50_uc002olt.1_RNA	p.K167fs	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	632	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		64			Mitochondrial matrix (Potential).		Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Frame_Shift_Del	DEL	ENST00000607714.1	37	c.499delA																																																																																					0.607	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	NM_001001563	
ZNF284	342909	broad.mit.edu	37	19	44589943	44589943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:44589943G>A	ENST00000421176.3	+	5	528	c.312G>A	c.(310-312)tgG>tgA	p.W104*	RNU6-902P_ENST00000517212.1_RNA|ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	104					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				AGCAAATCTGGGAACAAACTG	0.468																																						uc002oyg.1																			0					0						c.(310-312)TGG>TGA		zinc finger protein 284							97.0	95.0	96.0					19																	44589943		2203	4300	6503	SO:0001587	stop_gained	342909				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44589943G>A	AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"""Zinc fingers, C2H2-type"", ""-"""	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.312G>A	19.37:g.44589943G>A	ENSP00000411032:p.Trp104*					ZNF284_uc010ejd.2_RNA	p.W104*	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN			5	528	+		Prostate(69;0.0435)	104					Q86WM1	Nonsense_Mutation	SNP	ENST00000421176.3	37	c.312G>A	CCDS46099.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.479946	0.63849	.	.	ENSG00000186026	ENST00000421176	.	.	.	1.94	1.94	0.25998	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	7.3645	0.26766	0.0:0.0:1.0:0.0	.	.	.	.	X	104	.	ENSP00000411032:W104X	W	+	3	0	ZNF284	49281783	0.214000	0.23563	0.067000	0.19924	0.192000	0.23643	2.882000	0.48546	1.373000	0.46208	0.462000	0.41574	TGG		0.468	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460473.1	NM_001037813	
ZNF528	84436	broad.mit.edu	37	19	52918709	52918709	+	Missense_Mutation	SNP	A	A	C			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:52918709A>C	ENST00000360465.3	+	7	1030	c.604A>C	c.(604-606)Act>Cct	p.T202P	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	202					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)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TGCAAGCCTTACTAACCAAGT	0.398																																						uc002pzh.2																			0				ovary(1)|skin(1)	2						c.(604-606)ACT>CCT		zinc finger protein 528							94.0	93.0	94.0					19																	52918709		2203	4300	6503	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52918709A>C	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.604A>C	19.37:g.52918709A>C	ENSP00000353652:p.Thr202Pro					ZNF528_uc002pzi.2_5'UTR	p.T202P	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	7	1030	+			202					B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.604A>C	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	A	1.583	-0.531081	0.04112	.	.	ENSG00000167555	ENST00000360465	T	0.16073	2.37	1.69	-3.37	0.04898	.	.	.	.	.	T	0.19886	0.0478	M	0.83603	2.65	0.09310	N	1	P	0.50943	0.94	P	0.44921	0.464	T	0.05338	-1.0891	9	0.59425	D	0.04	.	0.5492	0.00659	0.4008:0.1273:0.2179:0.254	.	202	Q3MIS6	ZN528_HUMAN	P	202	ENSP00000353652:T202P	ENSP00000353652:T202P	T	+	1	0	ZNF528	57610521	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.085000	0.03390	-3.116000	0.00240	-2.559000	0.00174	ACT		0.398	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423	
NLRP12	91662	broad.mit.edu	37	19	54314485	54314485	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:54314485C>T	ENST00000324134.6	-	3	596	c.428G>A	c.(427-429)cGc>cAc	p.R143H	NLRP12_ENST00000391773.1_Missense_Mutation_p.R143H|NLRP12_ENST00000535162.1_Missense_Mutation_p.R143H|NLRP12_ENST00000345770.5_Missense_Mutation_p.R143H|NLRP12_ENST00000351894.4_Missense_Mutation_p.R143H|NLRP12_ENST00000354278.3_Missense_Mutation_p.R143H|NLRP12_ENST00000391772.1_Missense_Mutation_p.R143H|NLRP12_ENST00000391775.3_Missense_Mutation_p.R143H	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	143					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCGCGCATTGCGGTCTTCCAT	0.567																																						uc002qch.3																			0				ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(427-429)CGC>CAC		NLR family, pyrin domain containing 12 isoform							91.0	88.0	89.0					19																	54314485		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314485C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.428G>A	19.37:g.54314485C>T	ENSP00000319377:p.Arg143His					NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.R143H|NLRP12_uc002qcj.3_Missense_Mutation_p.R143H|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.R143H	p.R143H	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	648	-	Ovarian(34;0.19)		143					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.428G>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126245	0.56721	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52;-2.52;-2.52	4.47	2.25	0.28309	.	0.000000	0.39020	N	0.001489	D	0.91955	0.7452	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.68621	0.925;0.926;0.959;0.945	D	0.89399	0.3694	10	0.72032	D	0.01	.	4.834	0.13454	0.0:0.624:0.1789:0.1971	.	143;143;143;143	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	H	143	ENSP00000319377:R143H;ENSP00000438030:R143H;ENSP00000340473:R143H;ENSP00000346231:R143H;ENSP00000375655:R143H;ENSP00000375653:R143H;ENSP00000375652:R143H	ENSP00000319377:R143H	R	-	2	0	NLRP12	59006297	0.000000	0.05858	0.996000	0.52242	0.962000	0.63368	0.533000	0.23082	0.427000	0.26145	0.306000	0.20318	CGC		0.567	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687	
ZNF416	55659	broad.mit.edu	37	19	58084494	58084494	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:58084494G>A	ENST00000196489.3	-	4	1000	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		ACTCTTTGCAGCTGAACAAGG	0.458																																						uc002qpf.2																			0					0						c.(778-780)CTG>TTG		zinc finger protein 416							127.0	124.0	125.0					19																	58084494		2203	4300	6503	SO:0001819	synonymous_variant	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58084494G>A	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.778C>T	19.37:g.58084494G>A						ZNF547_uc002qpm.3_Intron	p.L260L	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	4	949	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	260			C2H2-type 1; degenerate.		Q9NWW8	Silent	SNP	ENST00000196489.3	37	c.778C>T	CCDS12954.1																																																																																				0.458	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879	
E2F6	1876	broad.mit.edu	37	2	11587770	11587770	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:11587770G>A	ENST00000381525.3	-	6	1051	c.782C>T	c.(781-783)cCa>cTa	p.P261L	E2F6_ENST00000546212.1_Missense_Mutation_p.P186L|E2F6_ENST00000307236.4_Missense_Mutation_p.P229L|E2F6_ENST00000362009.4_3'UTR|E2F6_ENST00000542100.1_Missense_Mutation_p.P186L	NM_198256.2	NP_937987.2	O75461	E2F6_HUMAN	E2F transcription factor 6	261	Transcription repression.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		AGGGCCTTCTGGATGAGTGCT	0.398																																						uc002rbh.2																			0				skin(1)	1						c.(781-783)CCA>CTA		E2F transcription factor 6							117.0	108.0	111.0					2																	11587770		1861	4089	5950	SO:0001583	missense	1876				negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity	g.chr2:11587770G>A	AF041381	CCDS1680.2, CCDS62858.1, CCDS62859.1	2p25.1	2008-02-05			ENSG00000169016	ENSG00000169016			3120	protein-coding gene	gene with protein product		602944				9501179	Standard	NM_198256		Approved	E2F-6	uc002rbh.4	O75461	OTTHUMG00000090565	ENST00000381525.3:c.782C>T	2.37:g.11587770G>A	ENSP00000370936:p.Pro261Leu					E2F6_uc002rbe.2_Missense_Mutation_p.P186L|E2F6_uc002rbf.2_Missense_Mutation_p.P229L|E2F6_uc002rbg.2_Missense_Mutation_p.P186L|E2F6_uc002rbi.2_Missense_Mutation_p.P186L|E2F6_uc010yjl.1_RNA	p.P261L	NM_198256	NP_937987	O75461	E2F6_HUMAN		Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)	6	1074	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		261			Transcription repression.		A8K2Z8|G5E936|O60544|Q53QY9|Q6Q9Z6|Q7Z2H6	Missense_Mutation	SNP	ENST00000381525.3	37	c.782C>T	CCDS1680.2	.	.	.	.	.	.	.	.	.	.	G	8.991	0.977633	0.18812	.	.	ENSG00000169016	ENST00000381525;ENST00000307236;ENST00000542100;ENST00000546212	T;T;T;T	0.11495	2.77;2.77;2.78;2.78	4.88	3.05	0.35203	.	7.874050	0.00669	N	0.000630	T	0.09113	0.0225	N	0.12182	0.205	0.20403	N	0.999909	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.34775	-0.9815	10	0.41790	T	0.15	-2.078	10.5696	0.45192	0.162:0.0:0.838:0.0	.	261;229	O75461;G5E936	E2F6_HUMAN;.	L	261;229;186;186	ENSP00000370936:P261L;ENSP00000302159:P229L;ENSP00000446315:P186L;ENSP00000438864:P186L	ENSP00000302159:P229L	P	-	2	0	E2F6	11505221	0.003000	0.15002	0.001000	0.08648	0.164000	0.22412	1.276000	0.33156	0.564000	0.29238	0.655000	0.94253	CCA		0.398	E2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207101.2	NM_001952	
MAP4K3	8491	broad.mit.edu	37	2	39509673	39509673	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:39509673G>A	ENST00000263881.3	-	22	1934	c.1610C>T	c.(1609-1611)cCt>cTt	p.P537L	MAP4K3_ENST00000536018.1_Missense_Mutation_p.P90L|MAP4K3_ENST00000437545.1_Missense_Mutation_p.P453L|SNORA67_ENST00000516664.1_RNA|MAP4K3_ENST00000341681.5_Missense_Mutation_p.P516L	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	537					intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				AGGTGTTGGAGGAAGACCATT	0.323																																						uc002rro.2																			0				ovary(3)|lung(3)|stomach(1)|pancreas(1)	8						c.(1609-1611)CCT>CTT		mitogen-activated protein kinase kinase kinase							169.0	162.0	164.0					2																	39509673		2203	4300	6503	SO:0001583	missense	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39509673G>A	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.1610C>T	2.37:g.39509673G>A	ENSP00000263881:p.Pro537Leu					MAP4K3_uc002rrp.2_Missense_Mutation_p.P516L|MAP4K3_uc010yns.1_Missense_Mutation_p.P90L	p.P537L	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN			22	1701	-		all_hematologic(82;0.211)	537					Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	c.1610C>T	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267885	0.80469	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000536018	T;T;T;T	0.78924	-1.22;-1.03;-1.18;1.7	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.88291	0.6397	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.983;0.999	D	0.89555	0.3802	10	0.87932	D	0	.	18.785	0.91951	0.0:0.0:1.0:0.0	.	516;537	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	L	537;453;516;90	ENSP00000263881:P537L;ENSP00000416958:P453L;ENSP00000345434:P516L;ENSP00000440580:P90L	ENSP00000263881:P537L	P	-	2	0	MAP4K3	39363177	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.185000	0.94900	2.423000	0.82170	0.655000	0.94253	CCT		0.323	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618	
PPM1B	5495	broad.mit.edu	37	2	44428594	44428594	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:44428594A>G	ENST00000282412.4	+	2	668	c.256A>G	c.(256-258)Agg>Ggg	p.R86G	PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000409895.4_Missense_Mutation_p.R86G|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000409432.3_Missense_Mutation_p.R86G|PPM1B_ENST00000378551.2_Missense_Mutation_p.R86G	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	86					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)	p.R86G(1)		kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CGAAGACTTTAGGGCAGCTGG	0.383																																						uc002rtt.2																			1	Substitution - Missense(1)		large_intestine(1)	kidney(1)|skin(1)	2						c.(256-258)AGG>GGG		protein phosphatase 1B isoform 1							106.0	104.0	105.0					2																	44428594		2203	4300	6503	SO:0001583	missense	5495				protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr2:44428594A>G	AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.256A>G	2.37:g.44428594A>G	ENSP00000282412:p.Arg86Gly					PPM1B_uc002rts.2_Missense_Mutation_p.R86G|PPM1B_uc002rtu.2_Missense_Mutation_p.R86G|PPM1B_uc002rtv.2_Intron|PPM1B_uc002rtw.2_Missense_Mutation_p.R86G|PPM1B_uc002rtx.2_Missense_Mutation_p.R86G	p.R86G	NM_002706	NP_002697	O75688	PPM1B_HUMAN			2	684	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	86					Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Missense_Mutation	SNP	ENST00000282412.4	37	c.256A>G	CCDS1817.1	.	.	.	.	.	.	.	.	.	.	A	11.63	1.695192	0.30052	.	.	ENSG00000138032	ENST00000419807;ENST00000409895;ENST00000409432;ENST00000282412;ENST00000378551;ENST00000409473	T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28	5.82	1.78	0.24846	Protein phosphatase 2C-like (5);	0.258660	0.47852	D	0.000211	T	0.09291	0.0229	N	0.05534	-0.03	0.37380	D	0.91199	B;B;B;B;B	0.09022	0.001;0.001;0.001;0.002;0.001	B;B;B;B;B	0.12156	0.004;0.002;0.004;0.007;0.003	T	0.14476	-1.0471	10	0.46703	T	0.11	-4.9526	13.0286	0.58829	0.6149:0.3851:0.0:0.0	.	86;86;86;86;86	Q4J6C0;O75688-2;Q4J6C1;O75688;Q4J6C2	.;.;.;PPM1B_HUMAN;.	G	86	ENSP00000390087:R86G;ENSP00000387341:R86G;ENSP00000387287:R86G;ENSP00000282412:R86G;ENSP00000367813:R86G;ENSP00000386982:R86G	ENSP00000282412:R86G	R	+	1	2	PPM1B	44282098	0.997000	0.39634	0.870000	0.34147	0.863000	0.49368	3.257000	0.51500	0.418000	0.25898	0.533000	0.62120	AGG		0.383	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	NM_002706	
POU3F3	5455	broad.mit.edu	37	2	105473303	105473303	+	Silent	SNP	C	C	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:105473303C>G	ENST00000361360.2	+	1	1335	c.1335C>G	c.(1333-1335)ctC>ctG	p.L445L	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	445					central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						GCCTGCAGCTCGAGAAGGAGG	0.642																																						uc010ywg.1																			0				ovary(1)	1						c.(1333-1335)CTC>CTG		POU class 3 homeobox 3							38.0	40.0	39.0					2																	105473303		2203	4300	6503	SO:0001819	synonymous_variant	5455				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding	g.chr2:105473303C>G		CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"""Homeoboxes / POU class"""	9216	protein-coding gene	gene with protein product		602480	"""POU domain class 3, transcription factor 3"""				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.1335C>G	2.37:g.105473303C>G							p.L445L	NM_006236	NP_006227	P20264	PO3F3_HUMAN			1	1335	+			445			Homeobox.		P78379|Q4ZG25	Silent	SNP	ENST00000361360.2	37	c.1335C>G	CCDS33265.1																																																																																				0.642	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329335.2		
MERTK	10461	broad.mit.edu	37	2	112786347	112786347	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:112786347G>A	ENST00000295408.4	+	19	3163	c.2906G>A	c.(2905-2907)tGg>tAg	p.W969*	MERTK_ENST00000409780.1_Nonsense_Mutation_p.W793*|MERTK_ENST00000421804.2_Nonsense_Mutation_p.W969*			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	969					apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GGGGTCTCCTGGTCCCATTCG	0.527																																						uc002thk.1																			0				lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						c.(2905-2907)TGG>TAG		MER receptor tyrosine kinase precursor							49.0	44.0	46.0					2																	112786347		2203	4300	6503	SO:0001587	stop_gained	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112786347G>A	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2906G>A	2.37:g.112786347G>A	ENSP00000295408:p.Trp969*					MERTK_uc002thl.1_Nonsense_Mutation_p.W793*	p.W969*	NM_006343	NP_006334	Q12866	MERTK_HUMAN			19	3028	+			969			Cytoplasmic (Potential).		Q9HBB4	Nonsense_Mutation	SNP	ENST00000295408.4	37	c.2906G>A	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	G	38	7.056144	0.98032	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780	.	.	.	5.95	5.95	0.96441	.	0.000000	0.31721	U	0.007170	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.9997	13.2162	0.59861	0.0731:0.0:0.9269:0.0	.	.	.	.	X	969;969;793	.	ENSP00000295408:W969X	W	+	2	0	MERTK	112502818	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	5.531000	0.67148	2.811000	0.96726	0.655000	0.94253	TGG		0.527	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2		
MCM6	4175	broad.mit.edu	37	2	136627932	136627932	+	Splice_Site	SNP	C	C	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:136627932C>G	ENST00000264156.2	-	3	315		c.e3-1			NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6						DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		AGGGTAAACTCTGAAAAACAA	0.428																																					Ovarian(196;141 2104 8848 24991 25939)	uc002tuw.2																			0					0						c.e3-1		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						110.0	119.0	116.0					2																	136627932		2203	4300	6503	SO:0001630	splice_region_variant	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136627932C>G		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.255-1G>C	2.37:g.136627932C>G							p.R85_splice	NM_005915	NP_005906	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	3	331	-								B2R6H2|Q13504|Q99859	Splice_Site	SNP	ENST00000264156.2	37	c.255_splice	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473332	0.84640	.	.	ENSG00000076003	ENST00000264156	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3903	0.94578	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MCM6	136344402	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.770000	0.85390	2.578000	0.87016	0.650000	0.86243	.		0.428	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915	Intron
ACVR1C	130399	broad.mit.edu	37	2	158412763	158412763	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:158412763G>A	ENST00000243349.8	-	3	746	c.386C>T	c.(385-387)gCg>gTg	p.A129V	ACVR1C_ENST00000335450.7_Intron|ACVR1C_ENST00000348328.5_Intron|ACVR1C_ENST00000409680.3_Missense_Mutation_p.A79V	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TGTCAGCATCGCAGCTATGGA	0.478																																						uc002tzk.3																			0				lung(3)|ovary(2)|skin(2)	7						c.(385-387)GCG>GTG		activin A receptor, type IC isoform 1							103.0	82.0	89.0					2																	158412763		2203	4300	6503	SO:0001583	missense	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158412763G>A	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.386C>T	2.37:g.158412763G>A	ENSP00000243349:p.Ala129Val					ACVR1C_uc002tzl.3_Intron|ACVR1C_uc010fof.2_Intron|ACVR1C_uc010foe.2_Missense_Mutation_p.A79V	p.A129V	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN			3	629	-			129			Helical; (Potential).			Missense_Mutation	SNP	ENST00000243349.8	37	c.386C>T	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	G	6.151	0.396106	0.11638	.	.	ENSG00000123612	ENST00000243349;ENST00000409680	T;T	0.56444	0.46;0.46	5.73	4.86	0.63082	.	0.123358	0.36134	N	0.002774	T	0.37999	0.1024	L	0.38531	1.155	0.32199	N	0.578042	B	0.11235	0.004	B	0.08055	0.003	T	0.41161	-0.9524	10	0.13470	T	0.59	.	9.098	0.36651	0.2213:0.0:0.7787:0.0	.	129	Q8NER5	ACV1C_HUMAN	V	129;79	ENSP00000243349:A129V;ENSP00000387168:A79V	ENSP00000243349:A129V	A	-	2	0	ACVR1C	158121009	0.005000	0.15991	0.170000	0.22879	0.629000	0.37895	1.982000	0.40638	1.435000	0.47434	-0.143000	0.13931	GCG		0.478	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259	
FAP	2191	broad.mit.edu	37	2	163070563	163070563	+	Missense_Mutation	SNP	A	A	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:163070563A>T	ENST00000188790.4	-	11	1094	c.887T>A	c.(886-888)cTc>cAc	p.L296H	FAP_ENST00000443424.1_Missense_Mutation_p.L271H	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						AACCCACGTGAGCCAACTGAA	0.368																																						uc002ucd.2																			0				ovary(3)	3						c.(886-888)CTC>CAC		fibroblast activation protein, alpha subunit							76.0	73.0	74.0					2																	163070563		2203	4300	6503	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163070563A>T	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.887T>A	2.37:g.163070563A>T	ENSP00000188790:p.Leu296His					FAP_uc010zct.1_Missense_Mutation_p.L271H|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Missense_Mutation_p.L263H	p.L296H	NM_004460	NP_004451	Q12884	SEPR_HUMAN			11	1095	-			296			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000188790.4	37	c.887T>A	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.766438	0.90020	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	D;T	0.96716	-4.1;1.3	5.53	5.53	0.82687	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.289830	0.34460	N	0.003945	D	0.97081	0.9046	L	0.46157	1.445	0.48511	D	0.999662	P;D;D	0.64830	0.683;0.994;0.978	P;D;D	0.71184	0.563;0.955;0.972	D	0.97938	1.0324	10	0.87932	D	0	-26.6345	15.6579	0.77158	1.0:0.0:0.0:0.0	.	271;296;296	B4DLR2;B2RD89;Q12884	.;.;SEPR_HUMAN	H	296;271	ENSP00000188790:L296H;ENSP00000411391:L271H	ENSP00000188790:L296H	L	-	2	0	FAP	162778809	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	8.688000	0.91260	2.107000	0.64212	0.533000	0.62120	CTC		0.368	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2		
LRP2	4036	broad.mit.edu	37	2	170115593	170115593	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:170115593G>A	ENST00000263816.3	-	17	2740	c.2455C>T	c.(2455-2457)Cgc>Tgc	p.R819C	LRP2_ENST00000443831.1_Missense_Mutation_p.R682C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	819					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R819C(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACTACTGTGCGTCTCGTTTTA	0.398																																						uc002ues.2																			1	Substitution - Missense(1)		large_intestine(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(2455-2457)CGC>TGC		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						155.0	151.0	153.0					2																	170115593		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170115593G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2455C>T	2.37:g.170115593G>A	ENSP00000263816:p.Arg819Cys					LRP2_uc010zdf.1_Missense_Mutation_p.R682C	p.R819C	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	17	2668	-			819			LDL-receptor class B 7.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.2455C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392758	0.42410	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.96856	-3.29;-4.15	5.77	3.88	0.44766	Six-bladed beta-propeller, TolB-like (1);	0.049037	0.85682	N	0.000000	D	0.97657	0.9232	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.97637	1.0146	10	0.72032	D	0.01	.	9.1112	0.36730	0.0763:0.0:0.6796:0.2441	.	682;819	E9PC35;P98164	.;LRP2_HUMAN	C	819;682	ENSP00000263816:R819C;ENSP00000409813:R682C	ENSP00000263816:R819C	R	-	1	0	LRP2	169823839	1.000000	0.71417	0.772000	0.31596	0.038000	0.13279	1.618000	0.36954	1.447000	0.47661	0.591000	0.81541	CGC		0.398	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
COL3A1	1281	broad.mit.edu	37	2	189867049	189867049	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:189867049C>G	ENST00000304636.3	+	35	2587	c.2417C>G	c.(2416-2418)cCa>cGa	p.P806R	COL3A1_ENST00000317840.5_Missense_Mutation_p.P806R	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	806	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	ACTGGCCCTCCAGGACCTGCT	0.438																																						uc002uqj.1																			0				central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(2416-2418)CCA>CGA		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						124.0	118.0	120.0					2																	189867049		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189867049C>G	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2417C>G	2.37:g.189867049C>G	ENSP00000304408:p.Pro806Arg						p.P806R	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		35	2534	+			806			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.2417C>G	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274738	0.40194	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.95447	-3.71;-3.71	5.77	5.77	0.91146	.	0.000000	0.49916	D	0.000134	D	0.94823	0.8328	N	0.11341	0.13	0.58432	D	0.999994	D	0.71674	0.998	D	0.66979	0.948	D	0.95340	0.8437	10	0.45353	T	0.12	.	19.9926	0.97371	0.0:1.0:0.0:0.0	.	806	P02461	CO3A1_HUMAN	R	806	ENSP00000304408:P806R;ENSP00000315243:P806R	ENSP00000304408:P806R	P	+	2	0	COL3A1	189575294	0.995000	0.38212	1.000000	0.80357	0.992000	0.81027	3.896000	0.56266	2.729000	0.93468	0.467000	0.42956	CCA		0.438	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090	
MARCH4	57574	broad.mit.edu	37	2	217234856	217234856	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:217234856C>T	ENST00000273067.4	-	1	1894	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	43						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GAAGAGCATGCGGCAGCGGCA	0.652																																						uc002vgb.2																			0				ovary(1)	1						c.(127-129)CGC>CAC		membrane-associated ring finger (C3HC4) 4							15.0	17.0	17.0					2																	217234856		2197	4297	6494	SO:0001583	missense	57574					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:217234856C>T	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.128G>A	2.37:g.217234856C>T	ENSP00000273067:p.Arg43His						p.R43H	NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	1	1895	-		Renal(323;0.0854)	43					Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	37	c.128G>A	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.875565	0.72180	.	.	ENSG00000144583	ENST00000273067	T	0.18174	2.23	5.24	5.24	0.73138	.	0.541556	0.21529	N	0.073071	T	0.28665	0.0710	L	0.32530	0.975	0.53688	D	0.999972	D	0.71674	0.998	P	0.57846	0.828	T	0.01102	-1.1451	10	0.66056	D	0.02	7.9439	17.9767	0.89129	0.0:1.0:0.0:0.0	.	43	Q9P2E8	MARH4_HUMAN	H	43	ENSP00000273067:R43H	ENSP00000273067:R43H	R	-	2	0	MARCH4	216943101	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.998000	0.76277	2.721000	0.93114	0.591000	0.81541	CGC		0.652	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814	
DIS3L2	129563	broad.mit.edu	37	2	233194556	233194556	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:233194556G>C	ENST00000409307.1	+	14	1773	c.1773G>C	c.(1771-1773)atG>atC	p.M591I	DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000325385.7_Missense_Mutation_p.M591I					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TGGCCAACATGGCAGTGGCCC	0.657																																						uc010fxz.2																			0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1771-1773)ATG>ATC		DIS3 mitotic control homolog (S.							26.0	30.0	28.0					2																	233194556		1975	4154	6129	SO:0001583	missense	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233194556G>C	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.1773G>C	2.37:g.233194556G>C	ENSP00000386799:p.Met591Ile					DIS3L2_uc002vsm.3_Intron|DIS3L2_uc002vso.2_RNA	p.M591I	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	15	2049	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	591						Missense_Mutation	SNP	ENST00000409307.1	37	c.1773G>C	CCDS42834.1	.	.	.	.	.	.	.	.	.	.	g	14.41	2.527968	0.44969	.	.	ENSG00000144535	ENST00000325385;ENST00000431466;ENST00000409307;ENST00000424049	T;T;T	0.34472	1.36;1.36;1.36	5.28	4.4	0.53042	Ribonuclease II/R (2);	0.052750	0.64402	D	0.000001	T	0.20251	0.0487	N	0.11845	0.185	0.80722	D	1	B	0.17465	0.022	B	0.25140	0.058	T	0.04825	-1.0924	10	0.06891	T	0.86	-30.3989	13.3574	0.60635	0.0767:0.0:0.9233:0.0	.	591	Q8IYB7	DI3L2_HUMAN	I	591;591;591;226	ENSP00000315569:M591I;ENSP00000386799:M591I;ENSP00000415419:M226I	ENSP00000315569:M591I	M	+	3	0	DIS3L2	232902800	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.178000	0.42519	1.232000	0.43678	0.544000	0.68410	ATG		0.657	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383	
KCNB1	3745	broad.mit.edu	37	20	48098748	48098748	+	Silent	SNP	G	G	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr20:48098748G>T	ENST00000371741.4	-	1	436	c.270C>A	c.(268-270)ggC>ggA	p.G90G		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	90					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)	p.G90G(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	AGGTGAAGGCGCCCGGGTGGC	0.607																																						uc002xur.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(268-270)GGC>GGA		potassium voltage-gated channel, Shab-related							48.0	38.0	42.0					20																	48098748		2203	4300	6503	SO:0001819	synonymous_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:48098748G>T	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.270C>A	20.37:g.48098748G>T						KCNB1_uc002xus.1_Silent_p.G90G	p.G90G	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		1	434	-			90			Cytoplasmic (Potential).		Q14193	Silent	SNP	ENST00000371741.4	37	c.270C>A	CCDS13418.1																																																																																				0.607	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975	
TRPM2	7226	broad.mit.edu	37	21	45786765	45786765	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr21:45786765G>A	ENST00000397928.1	+	4	997	c.552G>A	c.(550-552)ccG>ccA	p.P184P	TRPM2_ENST00000300482.5_Silent_p.P184P|TRPM2_ENST00000397932.2_Silent_p.P184P|TRPM2_ENST00000300481.9_Silent_p.P184P	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	184					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ACATGAAGCCGCGGCTGAAGA	0.637																																						uc002zet.1																			0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(550-552)CCG>CCA		transient receptor potential cation channel,							36.0	35.0	36.0					21																	45786765		2203	4300	6503	SO:0001819	synonymous_variant	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45786765G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.552G>A	21.37:g.45786765G>A						TRPM2_uc002zeu.1_Silent_p.P184P|TRPM2_uc002zew.1_Silent_p.P184P|TRPM2_uc010gpt.1_Silent_p.P184P|TRPM2_uc002zex.1_5'Flank	p.P184P	NM_003307	NP_003298	O94759	TRPM2_HUMAN			5	765	+			184			Cytoplasmic (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	c.552G>A	CCDS13710.1																																																																																				0.637	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307	
LZTR1	8216	broad.mit.edu	37	22	21343151	21343151	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr22:21343151G>A	ENST00000215739.8	+	6	942	c.583G>A	c.(583-585)Ggc>Agc	p.G195S	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.G176S	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	195					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G195C(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGGCTATGACGGCAACGCCAG	0.637																																						uc002zto.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)	4						c.(583-585)GGC>AGC		leucine-zipper-like transcription regulator 1							152.0	113.0	127.0					22																	21343151		2203	4300	6503	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21343151G>A	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.583G>A	22.37:g.21343151G>A	ENSP00000215739:p.Gly195Ser					LZTR1_uc002ztn.2_Missense_Mutation_p.G154S|LZTR1_uc011ahy.1_Missense_Mutation_p.G176S|LZTR1_uc010gsr.1_Missense_Mutation_p.G66S	p.G195S	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		6	686	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	195			Kelch 3.		Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.583G>A	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	G	36	5.601619	0.96614	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.70282	-0.47;-0.47	5.87	5.87	0.94306	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.87390	0.6165	M	0.89601	3.045	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	0.88934	0.3375	10	0.66056	D	0.02	-43.9936	17.6998	0.88291	0.0:0.0:1.0:0.0	.	176;154;195;154	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	S	154;195;176	ENSP00000215739:G195S;ENSP00000374006:G176S	ENSP00000215739:G195S	G	+	1	0	LZTR1	19673151	1.000000	0.71417	0.999000	0.59377	0.799000	0.45148	9.834000	0.99428	2.785000	0.95823	0.655000	0.94253	GGC		0.637	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767	
ITIH4	3700	broad.mit.edu	37	3	52857940	52857940	+	Missense_Mutation	SNP	C	C	T	rs141154056	byFrequency	TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr3:52857940C>T	ENST00000266041.4	-	10	1348	c.1252G>A	c.(1252-1254)Ggt>Agt	p.G418S	ITIH4_ENST00000346281.5_Missense_Mutation_p.G418S|ITIH4_ENST00000434759.3_Missense_Mutation_p.G330S|ITIH4_ENST00000467462.1_5'Flank|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000485816.1_Missense_Mutation_p.G418S|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000406595.1_Missense_Mutation_p.G418S	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	418	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACGTCGAAACCGAAGCCCAGG	0.612																																						uc003dfz.2																			0				ovary(2)|central_nervous_system(1)	3						c.(1252-1254)GGT>AGT		inter-alpha (globulin) inhibitor H4		C	SER/GLY,SER/GLY	3,4403	6.2+/-15.9	0,3,2200	49.0	48.0	49.0		1252,1252	4.5	1.0	3	dbSNP_134	49	13,8587	9.8+/-36.6	0,13,4287	yes	missense,missense	ITIH4	NM_001166449.1,NM_002218.4	56,56	0,16,6487	TT,TC,CC		0.1512,0.0681,0.123	probably-damaging,probably-damaging	418/901,418/931	52857940	16,12990	2203	4300	6503	SO:0001583	missense	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52857940C>T	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.1252G>A	3.37:g.52857940C>T	ENSP00000266041:p.Gly418Ser					ITIH4_uc011bel.1_Missense_Mutation_p.G148S|ITIH4_uc003dfy.2_Missense_Mutation_p.G282S|ITIH4_uc011bem.1_Missense_Mutation_p.G418S|ITIH4_uc011ben.1_Missense_Mutation_p.G418S	p.G418S	NM_002218	NP_002209	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	10	1288	-			418			VWFA.		B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	c.1252G>A	CCDS2865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.9|26.9	4.781228|4.781228	0.90282|0.90282	6.81E-4|6.81E-4	0.001512|0.001512	ENSG00000055955|ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421;ENST00000434759|ENST00000441637	D;D;D;D;D|.	0.91464|.	-2.85;-2.85;-2.85;-2.85;-2.85|.	4.53|4.53	4.53|4.53	0.55603|0.55603	von Willebrand factor, type A (3);|.	0.000000|.	0.64402|.	D|.	0.000014|.	D|D	0.88658|0.88658	0.6496|0.6496	H|H	0.98218|0.98218	4.175|4.175	0.80722|0.80722	D|D	1|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|D	0.93338|0.93338	0.6707|0.6707	10|5	0.87932|.	D|.	0|.	-26.541|-26.541	16.8849|16.8849	0.86073|0.86073	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	418;418;418;418|.	E9PGN5;B7ZKJ8;Q14624;Q14624-2|.	.;.;ITIH4_HUMAN;.|.	S|Q	418;418;418;418;406;330|275	ENSP00000266041:G418S;ENSP00000340520:G418S;ENSP00000417824:G418S;ENSP00000384425:G418S;ENSP00000440036:G330S|.	ENSP00000266041:G418S|.	G|R	-|-	1|2	0|0	ITIH4|ITIH4	52832980|52832980	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.523000|0.523000	0.34469|0.34469	7.417000|7.417000	0.80156|0.80156	2.070000|2.070000	0.61991|0.61991	0.462000|0.462000	0.41574|0.41574	GGT|CGG		0.612	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218	
IL17RB	55540	broad.mit.edu	37	3	53891662	53891662	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr3:53891662C>T	ENST00000288167.3	+	8	701	c.692C>T	c.(691-693)aCg>aTg	p.T231M	RP11-884K10.7_ENST00000607783.1_RNA	NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	231					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		AAGAAACAAACGCGAGCTTCA	0.517																																						uc003dha.2																			0				ovary(2)|pancreas(1)	3						c.(691-693)ACG>ATG		interleukin 17B receptor precursor							151.0	131.0	138.0					3																	53891662		2203	4300	6503	SO:0001583	missense	55540				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr3:53891662C>T	AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"""Interleukins and interleukin receptors"""	18015	protein-coding gene	gene with protein product		605458	"""interleukin 17B receptor"""	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.692C>T	3.37:g.53891662C>T	ENSP00000288167:p.Thr231Met						p.T231M	NM_018725	NP_061195	Q9NRM6	I17RB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	8	731	+			231			Extracellular (Potential).		Q9BPZ0|Q9NRL4|Q9NRM5	Missense_Mutation	SNP	ENST00000288167.3	37	c.692C>T	CCDS2874.1	.	.	.	.	.	.	.	.	.	.	C	5.414	0.261490	0.10239	.	.	ENSG00000056736	ENST00000288167;ENST00000494338	T;T	0.15256	3.18;2.44	4.3	0.334	0.15948	.	0.982720	0.08297	N	0.967545	T	0.15046	0.0363	L	0.45581	1.43	0.09310	N	1	B	0.15930	0.015	B	0.09377	0.004	T	0.32613	-0.9900	10	0.36615	T	0.2	-3.1635	7.503	0.27528	0.0:0.6124:0.0:0.3876	.	231	Q9NRM6	I17RB_HUMAN	M	231;215	ENSP00000288167:T231M;ENSP00000418638:T215M	ENSP00000288167:T231M	T	+	2	0	IL17RB	53866702	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.209000	0.09358	-0.059000	0.13154	-0.948000	0.02665	ACG		0.517	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234	
PTPRG	5793	broad.mit.edu	37	3	61975388	61975388	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr3:61975388C>T	ENST00000474889.1	+	3	657	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	PTPRG_ENST00000295874.10_Missense_Mutation_p.R94C	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	94	Alpha-carbonic anhydrase.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R94C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CCAGTATGCGCGTGTTGGGGA	0.488																																						uc003dlb.2																			1	Substitution - Missense(1)		large_intestine(1)	ovary(5)|lung(2)	7						c.(280-282)CGT>TGT		protein tyrosine phosphatase, receptor type, G							117.0	107.0	110.0					3																	61975388		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:61975388C>T	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.280C>T	3.37:g.61975388C>T	ENSP00000418112:p.Arg94Cys					PTPRG_uc003dlc.2_Missense_Mutation_p.R94C	p.R94C	NM_002841	NP_002832	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	3	999	+			94			Extracellular (Potential).|Alpha-carbonic anhydrase.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.280C>T	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914487	0.72983	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.69175	-0.38;-0.38	5.92	5.04	0.67666	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.537042	0.20086	N	0.099558	T	0.65852	0.2731	L	0.41906	1.305	0.42524	D	0.993019	D;D	0.67145	0.995;0.996	P;P	0.47376	0.528;0.545	T	0.70941	-0.4735	10	0.87932	D	0	.	16.5237	0.84324	0.1319:0.8681:0.0:0.0	.	94;94	P23470-2;P23470	.;PTPRG_HUMAN	C	94	ENSP00000418112:R94C;ENSP00000295874:R94C	ENSP00000295874:R94C	R	+	1	0	PTPRG	61950428	0.014000	0.17966	0.035000	0.18076	0.958000	0.62258	1.115000	0.31209	1.487000	0.48415	0.655000	0.94253	CGT		0.488	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841	
C3orf30	152405	broad.mit.edu	37	3	118865302	118865302	+	Missense_Mutation	SNP	G	G	A	rs138666071		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr3:118865302G>A	ENST00000295622.1	+	1	306	c.266G>A	c.(265-267)cGc>cAc	p.R89H	IGSF11_ENST00000425327.2_5'Flank|IGSF11_ENST00000441144.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000354673.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	89										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CAGGCTGGCCGCAGAGCATCC	0.502													G|||	1	0.000199681	0.0	0.0014	5008	,	,		24028	0.0		0.0	False		,,,				2504	0.0					uc003ecb.1																			0				ovary(2)	2						c.(265-267)CGC>CAC		hypothetical protein LOC152405		G	HIS/ARG	0,4406		0,0,2203	52.0	46.0	48.0		266	-6.2	0.0	3	dbSNP_134	48	1,8599	1.2+/-3.3	0,1,4299	no	missense	C3orf30	NM_152539.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	89/537	118865302	1,13005	2203	4300	6503	SO:0001583	missense	152405							g.chr3:118865302G>A	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.266G>A	3.37:g.118865302G>A	ENSP00000295622:p.Arg89His					IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.R89H	p.R89H	NM_152539	NP_689752	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	306	+			89					A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	c.266G>A	CCDS2984.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	3.512	-0.099652	0.07010	0.0	1.16E-4	ENSG00000163424	ENST00000295622;ENST00000470341	T	0.22539	1.95	3.12	-6.25	0.02039	.	.	.	.	.	T	0.08179	0.0204	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26395	-1.0104	9	0.39692	T	0.17	.	2.3842	0.04362	0.359:0.1171:0.3927:0.1312	.	89;89	E9PFE5;Q96M34	.;CC030_HUMAN	H	89	ENSP00000295622:R89H	ENSP00000295622:R89H	R	+	2	0	C3orf30	120347992	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.964000	0.03833	-2.049000	0.00906	-1.119000	0.02030	CGC		0.502	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539	
OTOL1	131149	broad.mit.edu	37	3	161221595	161221595	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr3:161221595G>C	ENST00000327928.4	+	4	1299	c.1299G>C	c.(1297-1299)ttG>ttC	p.L433F		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	433	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TCGTCATCTTGAAATTAAGTG	0.468																																						uc011bpb.1																			0					0						c.(1297-1299)TTG>TTC		otolin-1 precursor							52.0	50.0	51.0					3																	161221595		1920	4128	6048	SO:0001583	missense	131149					collagen		g.chr3:161221595G>C		CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.1299G>C	3.37:g.161221595G>C	ENSP00000330808:p.Leu433Phe						p.L433F	NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN			4	1299	+			433			C1q.			Missense_Mutation	SNP	ENST00000327928.4	37	c.1299G>C	CCDS46948.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443421	0.43429	.	.	ENSG00000182447	ENST00000327928	D	0.92249	-3.0	5.35	4.43	0.53597	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.162842	0.41605	D	0.000852	D	0.95370	0.8497	M	0.83774	2.66	0.37610	D	0.920882	D	0.89917	1.0	D	0.85130	0.997	D	0.95956	0.8958	10	0.87932	D	0	.	8.9267	0.35646	0.0905:0.2013:0.7082:0.0	.	433	A6NHN0	OTOL1_HUMAN	F	433	ENSP00000330808:L433F	ENSP00000330808:L433F	L	+	3	2	OTOL1	162704289	1.000000	0.71417	0.995000	0.50966	0.961000	0.63080	2.505000	0.45424	2.503000	0.84419	0.563000	0.77884	TTG		0.468	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440	
TP63	8626	broad.mit.edu	37	3	189604307	189604307	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr3:189604307C>T	ENST00000264731.3	+	11	1563	c.1474C>T	c.(1474-1476)Cct>Tct	p.P492S	TP63_ENST00000449992.1_Missense_Mutation_p.P313S|TP63_ENST00000354600.5_Missense_Mutation_p.P398S|TP63_ENST00000392460.3_Missense_Mutation_p.P492S|TP63_ENST00000320472.5_Missense_Mutation_p.P492S|TP63_ENST00000392463.2_Missense_Mutation_p.P398S|TP63_ENST00000440651.2_Missense_Mutation_p.P488S|TP63_ENST00000382063.4_Missense_Mutation_p.P407S|TP63_ENST00000392461.3_Missense_Mutation_p.P398S|TP63_ENST00000456148.1_Missense_Mutation_p.P394S	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	492					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CGCCCTCACTCCTACAACCAT	0.498										HNSCC(45;0.13)																												uc003fry.2																			0				skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(1474-1476)CCT>TCT		tumor protein p63 isoform 1							119.0	97.0	104.0					3																	189604307		2203	4300	6503	SO:0001583	missense	8626	Hay-Wells_syndrome			anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189604307C>T	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1474C>T	3.37:g.189604307C>T	ENSP00000264731:p.Pro492Ser	HNSCC(45;0.13)				TP63_uc003frz.2_Missense_Mutation_p.P492S|TP63_uc010hzc.1_Missense_Mutation_p.P492S|TP63_uc003fsc.2_Missense_Mutation_p.P398S|TP63_uc003fsd.2_Missense_Mutation_p.P398S|TP63_uc010hzd.1_Missense_Mutation_p.P313S	p.P492S	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	11	1563	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		492					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.1474C>T	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664977	0.88251	.	.	ENSG00000073282	ENST00000264731;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D	0.99795	-6.27;-6.78;-6.56;-6.28;-6.5;-6.2;-6.46;-6.63;-6.53;-6.21	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.98723	0.9571	N	0.19112	0.55	0.80722	D	1	B;B;B;B;B;B	0.29988	0.235;0.216;0.054;0.235;0.104;0.264	B;B;B;B;B;B	0.32928	0.131;0.122;0.09;0.131;0.155;0.109	D	0.99954	1.1594	9	.	.	.	-5.745	19.6603	0.95864	0.0:1.0:0.0:0.0	.	313;492;398;398;492;492	Q9H3D4-10;Q9H3D4-7;Q9H3D4-4;Q9H3D4-2;Q9H3D4-3;Q9H3D4	.;.;.;.;.;P63_HUMAN	S	492;492;492;488;407;398;398;398;313;394	ENSP00000264731:P492S;ENSP00000317510:P492S;ENSP00000376253:P492S;ENSP00000394337:P488S;ENSP00000371495:P407S;ENSP00000346614:P398S;ENSP00000376256:P398S;ENSP00000376254:P398S;ENSP00000387839:P313S;ENSP00000389485:P394S	.	P	+	1	0	TP63	191087001	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	7.150000	0.77403	2.894000	0.99253	0.591000	0.81541	CCT		0.498	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722	
FGFRL1	53834	broad.mit.edu	37	4	1019042	1019042	+	Silent	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:1019042C>T	ENST00000398484.2	+	8	2002	c.1422C>T	c.(1420-1422)ctC>ctT	p.L474L	FGFRL1_ENST00000510644.1_Silent_p.L474L|FGFRL1_ENST00000504138.1_Silent_p.L474L|FGFRL1_ENST00000264748.6_Silent_p.L474L|RP11-460I19.2_ENST00000503095.1_lincRNA			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	474					diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ACCCCAAACTCTacacagaca	0.597																																						uc003gce.2																			0					0						c.(1420-1422)CTC>CTT		fibroblast growth factor receptor-like 1							16.0	18.0	17.0					4																	1019042		2189	4293	6482	SO:0001819	synonymous_variant	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1019042C>T		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1422C>T	4.37:g.1019042C>T						FGFRL1_uc003gcf.2_Silent_p.L474L|FGFRL1_uc003gcg.2_Silent_p.L474L|FGFRL1_uc010ibo.2_Silent_p.L474L	p.L474L	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	1583	+			474			Cytoplasmic (Potential).		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Silent	SNP	ENST00000398484.2	37	c.1422C>T	CCDS3344.1																																																																																				0.597	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923	
PCDH7	5099	broad.mit.edu	37	4	30725505	30725505	+	Frame_Shift_Del	DEL	G	G	-			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:30725505delG	ENST00000361762.2	+	1	3469	c.2461delG	c.(2461-2463)gtgfs	p.V821fs	PCDH7_ENST00000543491.1_Frame_Shift_Del_p.V821fs	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	821	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GGTGGTGCAAGTGAATGACAG	0.483																																						uc003gsk.1																			0				upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(2461-2463)GTGfs		protocadherin 7 isoform a precursor							55.0	53.0	54.0					4																	30725505		2203	4300	6503	SO:0001589	frameshift_variant	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30725505delG	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2461delG	4.37:g.30725505delG	ENSP00000355243:p.Val821fs					PCDH7_uc011bxw.1_Frame_Shift_Del_p.V774fs|PCDH7_uc011bxx.1_Frame_Shift_Del_p.V821fs	p.V821fs	NM_002589	NP_002580	O60245	PCDH7_HUMAN			1	3469	+			821			Extracellular (Potential).|Cadherin 7.		O60246|O60247|Q4W5C4	Frame_Shift_Del	DEL	ENST00000361762.2	37	c.2461delG	CCDS33971.1																																																																																				0.483	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589	
CNGA1	1259	broad.mit.edu	37	4	47945299	47945299	+	Silent	SNP	T	T	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:47945299T>A	ENST00000514170.1	-	8	667	c.348A>T	c.(346-348)tcA>tcT	p.S116S	CNGA1_ENST00000544810.1_Silent_p.S116S|CNGA1_ENST00000402813.3_Silent_p.S185S|CNGA1_ENST00000358519.4_Silent_p.S116S|CNGA1_ENST00000420489.2_Silent_p.S116S			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	116					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TTTTATCATCTGACTTGCTGA	0.318																																						uc003gxt.3																			0		p.S116*(1)		ovary(2)	2						c.(346-348)TCA>TCT		cyclic nucleotide gated channel alpha 1 isoform							32.0	29.0	30.0					4																	47945299		1752	3953	5705	SO:0001819	synonymous_variant	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47945299T>A	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.348A>T	4.37:g.47945299T>A						uc003gxr.1_Intron|CNGA1_uc003gxu.2_Silent_p.S185S|CNGA1_uc003gxv.1_Silent_p.S116S	p.S116S	NM_000087	NP_000078	P29973	CNGA1_HUMAN			8	614	-			116			Cytoplasmic (Potential).		A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Silent	SNP	ENST00000514170.1	37	c.348A>T	CCDS43226.1																																																																																				0.318	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087	
UGT2B28	54490	broad.mit.edu	37	4	70160416	70160416	+	Silent	SNP	G	G	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:70160416G>T	ENST00000335568.5	+	6	1481	c.1479G>T	c.(1477-1479)gtG>gtT	p.V493V	UGT2B28_ENST00000511240.1_3'UTR	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	493					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						CTTTGGATGTGATTGGGTTTC	0.463																																						uc003hej.2																			0				skin(1)	1						c.(1477-1479)GTG>GTT		UDP glucuronosyltransferase 2 family,	Flunitrazepam(DB01544)						94.0	101.0	98.0					4																	70160416		2047	4236	6283	SO:0001819	synonymous_variant	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70160416G>T	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1479G>T	4.37:g.70160416G>T						UGT2B28_uc010ihr.2_3'UTR	p.V493V	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			6	1481	+			493					B5BUM0|Q9BY62|Q9BY63	Silent	SNP	ENST00000335568.5	37	c.1479G>T	CCDS3528.1																																																																																				0.463	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039	
NAAA	27163	broad.mit.edu	37	4	76836138	76836138	+	Splice_Site	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:76836138G>A	ENST00000286733.4	-	10	1100	c.999C>T	c.(997-999)aaC>aaT	p.N333N	NAAA_ENST00000399497.3_Intron|NAAA_ENST00000511606.1_Intron	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	333					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						AAATTGTGAAGCTGAAAATTA	0.408																																						uc003hjb.2																			0				skin(1)	1						c.(997-999)AAC>AAT		N-acylethanolamine acid amidase isoform 1							109.0	100.0	103.0					4																	76836138		1830	4090	5920	SO:0001630	splice_region_variant	27163				lipid metabolic process	lysosome	hydrolase activity	g.chr4:76836138G>A	M92449	CCDS43239.1	4q21.1	2011-09-23	2008-04-24	2008-04-24	ENSG00000138744	ENSG00000138744	3.5.1.-		736	protein-coding gene	gene with protein product		607469	"""N-acylsphingosine amidohydrolase (acid ceramidase)-like"""	ASAHL		10610717, 1446826	Standard	NM_001042402		Approved		uc003hjb.3	Q02083	OTTHUMG00000160855	ENST00000286733.4:c.999-1C>T	4.37:g.76836138G>A						NAAA_uc003hja.2_Intron	p.N333N	NM_014435	NP_055250	Q02083	NAAA_HUMAN			10	1063	-			333					Q5KTF2|Q96EY2|Q9BRA8	Silent	SNP	ENST00000286733.4	37	c.999C>T	CCDS43239.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.008123	0.35415	.	.	ENSG00000138744	ENST00000513045	.	.	.	5.38	-0.0148	0.13979	.	.	.	.	.	T	0.42381	0.1200	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27434	-1.0074	4	.	.	.	.	2.1054	0.03689	0.158:0.1218:0.4111:0.3091	.	.	.	.	V	128	.	.	A	-	2	0	NAAA	77055162	0.000000	0.05858	0.343000	0.25615	0.130000	0.20726	-0.440000	0.06888	0.278000	0.22164	0.655000	0.94253	GCT		0.408	NAAA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362843.4		Silent
SHROOM3	57619	broad.mit.edu	37	4	77661454	77661454	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:77661454C>A	ENST00000296043.6	+	5	3081	c.2128C>A	c.(2128-2130)Cct>Act	p.P710T		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	710					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GAAAGCCGCTCCTGACCTCGG	0.667																																						uc011cbx.1																			0				skin(2)|ovary(1)	3						c.(2128-2130)CCT>ACT		shroom family member 3 protein							47.0	59.0	55.0					4																	77661454		2193	4287	6480	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77661454C>A	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2128C>A	4.37:g.77661454C>A	ENSP00000296043:p.Pro710Thr					SHROOM3_uc011cbz.1_Missense_Mutation_p.P534T|SHROOM3_uc003hkf.1_Missense_Mutation_p.P585T|SHROOM3_uc003hkg.2_Missense_Mutation_p.P488T	p.P710T	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	3081	+			710					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.2128C>A	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	c	11.20	1.569848	0.28003	.	.	ENSG00000138771	ENST00000296043	T	0.33216	1.42	5.43	2.54	0.30619	.	1.463340	0.04328	N	0.351829	T	0.29817	0.0745	L	0.51422	1.61	0.09310	N	1	P;P;P	0.46277	0.875;0.875;0.875	B;B;B	0.39706	0.307;0.307;0.307	T	0.24693	-1.0153	10	0.25751	T	0.34	-0.8608	9.1012	0.36669	0.0:0.6482:0.2756:0.0762	.	534;710;488	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	T	710	ENSP00000296043:P710T	ENSP00000296043:P710T	P	+	1	0	SHROOM3	77880478	0.000000	0.05858	0.005000	0.12908	0.072000	0.16883	-0.127000	0.10547	0.632000	0.30432	0.558000	0.71614	CCT		0.667	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859	
SEC24B	10427	broad.mit.edu	37	4	110437770	110437770	+	Nonsense_Mutation	SNP	C	C	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:110437770C>A	ENST00000265175.5	+	11	2155	c.2100C>A	c.(2098-2100)tgC>tgA	p.C700*	SEC24B_ENST00000504968.2_Nonsense_Mutation_p.C730*|SEC24B_ENST00000399100.2_Nonsense_Mutation_p.C665*	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	700					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CAATTTTGTGCCAGTCACTCC	0.318																																						uc003hzk.2																			0				ovary(2)|large_intestine(1)	3						c.(2098-2100)TGC>TGA		SEC24 (S. cerevisiae) homolog B isoform a							86.0	76.0	79.0					4																	110437770		1827	4095	5922	SO:0001587	stop_gained	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110437770C>A	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.2100C>A	4.37:g.110437770C>A	ENSP00000265175:p.Cys700*					SEC24B_uc003hzl.2_Nonsense_Mutation_p.C665*|SEC24B_uc011cfp.1_Nonsense_Mutation_p.C730*|SEC24B_uc011cfq.1_Nonsense_Mutation_p.C699*|SEC24B_uc011cfr.1_Nonsense_Mutation_p.C664*	p.C700*	NM_006323	NP_006314	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	11	2155	+		Hepatocellular(203;0.217)	700					B7ZKM8|B7ZKN4|Q0VG08	Nonsense_Mutation	SNP	ENST00000265175.5	37	c.2100C>A	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	C	39	7.570528	0.98365	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	.	.	.	6.03	5.18	0.71444	.	0.089039	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.2513	11.0101	0.47657	0.0:0.8571:0.0:0.1429	.	.	.	.	X	730;665;700	.	ENSP00000265175:C700X	C	+	3	2	SEC24B	110657219	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.826000	0.27407	1.552000	0.49463	0.655000	0.94253	TGC		0.318	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2		
LYSMD3	116068	broad.mit.edu	37	5	89821101	89821101	+	Silent	SNP	T	T	C			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr5:89821101T>C	ENST00000315948.6	-	2	150	c.6A>G	c.(4-6)gcA>gcG	p.A2A	LYSMD3_ENST00000509384.1_Silent_p.A2A|LYSMD3_ENST00000500869.2_Silent_p.A2A	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	2						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		GATGCCTCCCTGCCATAATGT	0.403																																						uc003kjr.2																			0					0						c.(4-6)GCA>GCG		LysM, putative peptidoglycan-binding, domain							55.0	54.0	54.0					5																	89821101		1848	4088	5936	SO:0001819	synonymous_variant	116068				cell wall macromolecule catabolic process	integral to membrane		g.chr5:89821101T>C	BX537972	CCDS43338.1, CCDS68911.1	5q14.3	2010-12-09			ENSG00000176018	ENSG00000176018			26969	protein-coding gene	gene with protein product							Standard	NM_001286812		Approved	FLJ13542	uc003kjr.3	Q7Z3D4	OTTHUMG00000162667	ENST00000315948.6:c.6A>G	5.37:g.89821101T>C						LYSMD3_uc010jaz.1_Silent_p.A2A|LYSMD3_uc003kjs.1_Silent_p.A2A	p.A2A	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)	2	154	-		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	2			Extracellular (Potential).		Q5H9U0|Q6PEK0|Q9NTE9	Silent	SNP	ENST00000315948.6	37	c.6A>G	CCDS43338.1																																																																																				0.403	LYSMD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369987.2	XM_371760	
KIAA0825	285600	broad.mit.edu	37	5	93859726	93859726	+	Missense_Mutation	SNP	T	T	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr5:93859726T>G	ENST00000329378.7	-	4	458	c.209A>C	c.(208-210)gAc>gCc	p.D70A	KIAA0825_ENST00000513200.3_Missense_Mutation_p.D70A|KIAA0825_ENST00000312498.7_Missense_Mutation_p.D70A|KIAA0825_ENST00000427991.2_Missense_Mutation_p.D70A	NM_173665.2	NP_775936.1	Q8IV33	K0825_HUMAN	KIAA0825	70										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						TTCAAAGCAGTCAGTTGTTGT	0.318																																						uc011cuk.1																			0					0						c.(208-210)GAC>GCC		hypothetical protein LOC285600 isoform 1							121.0	122.0	122.0					5																	93859726		2203	4299	6502	SO:0001583	missense	285600							g.chr5:93859726T>G	BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 36"""	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000329378.7:c.209A>C	5.37:g.93859726T>G	ENSP00000331385:p.Asp70Ala					C5orf36_uc003kkp.2_Missense_Mutation_p.D70A	p.D70A	NM_001145678	NP_001139150	Q8IV33	K0825_HUMAN		all cancers(79;3.96e-19)	4	466	-		all_cancers(142;2.12e-08)|all_epithelial(76;5.95e-11)|all_lung(232;0.000996)|Lung NSC(167;0.0108)|Ovarian(174;0.0218)|Colorectal(57;0.0329)|Breast(839;0.214)|Lung SC(612;0.236)	70					O94914|Q6ZNN2	Missense_Mutation	SNP	ENST00000329378.7	37	c.209A>C	CCDS4070.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.094766	0.76870	.	.	ENSG00000185261	ENST00000513200;ENST00000427991;ENST00000312498;ENST00000329378	T;T;T;T	0.57273	0.43;0.43;0.42;0.41	5.49	5.49	0.81192	.	0.523457	0.19998	N	0.101419	T	0.69815	0.3153	M	0.64997	1.995	0.38336	D	0.943934	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.74799	-0.3542	10	0.72032	D	0.01	.	14.1514	0.65387	0.0:0.0:0.0:1.0	.	70;70	Q8IV33;Q8IV33-2	K0825_HUMAN;.	A	70	ENSP00000424618:D70A;ENSP00000400288:D70A;ENSP00000312205:D70A;ENSP00000331385:D70A	ENSP00000312205:D70A	D	-	2	0	KIAA0825	93885482	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.572000	0.53849	2.090000	0.63153	0.528000	0.53228	GAC		0.318	KIAA0825-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371180.2	NM_173665	
SLC27A6	28965	broad.mit.edu	37	5	128359401	128359401	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr5:128359401A>G	ENST00000262462.4	+	6	2263	c.1253A>G	c.(1252-1254)aAa>aGa	p.K418R	SLC27A6_ENST00000506176.1_Missense_Mutation_p.K418R|SLC27A6_ENST00000395266.1_Missense_Mutation_p.K418R			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	418					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CATGTGAAAAAAGGTAAGACT	0.398																																						uc003kuy.2																			0					0						c.(1252-1254)AAA>AGA		solute carrier family 27 (fatty acid							69.0	71.0	70.0					5																	128359401		2203	4300	6503	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128359401A>G	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1253A>G	5.37:g.128359401A>G	ENSP00000262462:p.Lys418Arg					SLC27A6_uc003kuz.2_Missense_Mutation_p.K418R	p.K418R	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	7	1649	+		all_cancers(142;0.0483)|Prostate(80;0.055)	418					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.1253A>G	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	A	11.58	1.682023	0.29872	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.39997	1.05;1.05;1.05	3.97	2.76	0.32466	AMP-dependent synthetase/ligase (1);	0.721088	0.13814	N	0.360930	T	0.28995	0.0720	L	0.27975	0.815	0.43936	D	0.996595	B	0.06786	0.001	B	0.18871	0.023	T	0.04678	-1.0934	9	.	.	.	0.5293	10.9659	0.47412	0.8427:0.1573:0.0:0.0	.	418	Q9Y2P4	S27A6_HUMAN	R	418	ENSP00000262462:K418R;ENSP00000378684:K418R;ENSP00000421024:K418R	.	K	+	2	0	SLC27A6	128387300	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	3.490000	0.53245	0.831000	0.34780	0.460000	0.39030	AAA		0.398	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031	
DOCK2	1794	broad.mit.edu	37	5	169097547	169097547	+	Splice_Site	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr5:169097547G>A	ENST00000256935.8	+	4	250	c.170G>A	c.(169-171)gGc>gAc	p.G57D		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	57	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ttCCAACAGGGCATTTTTCCT	0.348																																						uc003maf.2																			0				ovary(5)|pancreas(2)	7						c.(169-171)GGC>GAC		dedicator of cytokinesis 2							78.0	76.0	77.0					5																	169097547		2203	4300	6503	SO:0001630	splice_region_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169097547G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.169-1G>A	5.37:g.169097547G>A						DOCK2_uc011der.1_RNA	p.G57D	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	250	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	57			SH3.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.170G>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020372	0.93462	.	.	ENSG00000134516	ENST00000256935	D	0.95518	-3.73	5.62	5.62	0.85841	Src homology-3 domain (3);Variant SH3 (1);	0.105434	0.64402	D	0.000004	D	0.98741	0.9577	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99410	1.0930	10	0.87932	D	0	.	19.6591	0.95857	0.0:0.0:1.0:0.0	.	57	Q92608	DOCK2_HUMAN	D	57	ENSP00000256935:G57D	ENSP00000256935:G57D	G	+	2	0	DOCK2	169030125	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.130000	0.89598	2.648000	0.89879	0.655000	0.94253	GGC		0.348	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	Missense_Mutation
GFOD1	54438	broad.mit.edu	37	6	13470477	13470477	+	Intron	SNP	C	C	T	rs150464914		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr6:13470477C>T	ENST00000379287.3	-	1	918				GFOD1_ENST00000379278.3_5'UTR|AL583828.1_ENST00000558378.1_Silent_p.P12P|GFOD1_ENST00000603223.1_3'UTR	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			GGGCAATTGCCGGCTCATGAA	0.572																																						uc003nav.2																			0					0						c.(34-36)CCG>CCA		hypothetical protein LOC85411		C	,,	1,4405	2.1+/-5.4	0,1,2202	42.0	34.0	37.0		,,	-5.7	0.0	6	dbSNP_134	37	0,8600		0,0,4300	no	intron,utr-3,intron	GFOD1	NM_001242628.1,NM_001242629.1,NM_018988.3	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	,,	13470477	1,13005	2203	4300	6503	SO:0001627	intron_variant	85411							g.chr6:13470477C>T	AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 114"""	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.253+16392G>A	6.37:g.13470477C>T						GFOD1_uc003nas.1_Intron|GFOD1_uc003nat.1_Intron|C6orf114_uc003nau.2_RNA	p.P12P	NM_033069	NP_149060			Epithelial(50;0.0504)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.147)		2	559	-	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)						A8E4L6|Q5T058|Q96JD4|Q9H5K2	Silent	SNP	ENST00000379287.3	37	c.36G>A	CCDS4524.1																																																																																				0.572	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	NM_018988	
PHF1	5252	broad.mit.edu	37	6	33382871	33382871	+	Frame_Shift_Del	DEL	C	C	-			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr6:33382871delC	ENST00000374516.3	+	12	1460	c.1189delC	c.(1189-1191)cccfs	p.P397fs	PHF1_ENST00000374512.3_Frame_Shift_Del_p.A393fs|CUTA_ENST00000492510.1_5'Flank	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	397					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GCGCAATCAGCCCGAGCCCCA	0.677											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003oeh.2																			0					0						c.(1189-1191)CCCfs		PHD finger protein 1 isoform b							31.0	34.0	33.0					6																	33382871		2202	4296	6498	SO:0001589	frameshift_variant	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33382871delC	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.1189delC	6.37:g.33382871delC	ENSP00000363640:p.Pro397fs		OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	839	PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_Frame_Shift_Del_p.A393fs|PHF1_uc010jux.2_Frame_Shift_Del_p.P197fs	p.P397fs	NM_024165	NP_077084	O43189	PHF1_HUMAN			12	1425	+		Ovarian(999;0.0443)	397					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Frame_Shift_Del	DEL	ENST00000374516.3	37	c.1189delC	CCDS4777.1																																																																																				0.677	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3		
ZNF76	7629	broad.mit.edu	37	6	35261624	35261624	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr6:35261624G>A	ENST00000373953.3	+	12	1692	c.1426G>A	c.(1426-1428)Gcc>Acc	p.A476T	ZNF76_ENST00000440666.2_Missense_Mutation_p.A450T|ZNF76_ENST00000339411.5_Intron	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	476					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CAGTCCTGATGCCGACCTGGC	0.627																																					Esophageal Squamous(52;92 1039 20612 23956 34676)	uc003oki.1																			0					0						c.(1426-1428)GCC>ACC		zinc finger protein 76 (expressed in testis)							110.0	95.0	100.0					6																	35261624		2203	4300	6503	SO:0001583	missense	7629				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:35261624G>A	M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"""Zinc fingers, C2H2-type"""	13149	protein-coding gene	gene with protein product		194549	"""zinc finger protein 76 (expressed in testis)"""	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.1426G>A	6.37:g.35261624G>A	ENSP00000363064:p.Ala476Thr					ZNF76_uc003okj.1_Intron	p.A476T	NM_003427	NP_003418	P36508	ZNF76_HUMAN			12	1631	+			476					Q9BQB2	Missense_Mutation	SNP	ENST00000373953.3	37	c.1426G>A	CCDS4801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.945|5.945	0.358279|0.358279	0.11239|0.11239	.|.	.|.	ENSG00000065029|ENSG00000065029	ENST00000373953;ENST00000440666|ENST00000498555	T;T|.	0.09911|.	2.93;2.93|.	4.41|4.41	1.52|1.52	0.23074|0.23074	.|.	0.564845|.	0.14784|.	N|.	0.298652|.	T|T	0.09555|0.09555	0.0235|0.0235	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B|.	0.11235|.	0.004|.	B|.	0.13407|.	0.009|.	T|T	0.34179|0.34179	-0.9839|-0.9839	10|5	0.14252|.	T|.	0.57|.	.|.	6.7502|6.7502	0.23483|0.23483	0.3268:0.0:0.6732:0.0|0.3268:0.0:0.6732:0.0	.|.	476|.	P36508|.	ZNF76_HUMAN|.	T|I	476;450|8	ENSP00000363064:A476T;ENSP00000392243:A450T|.	ENSP00000363064:A476T|.	A|M	+|+	1|3	0|0	ZNF76|ZNF76	35369602|35369602	0.021000|0.021000	0.18746|0.18746	0.000000|0.000000	0.03702|0.03702	0.079000|0.079000	0.17450|0.17450	2.109000|2.109000	0.41863|0.41863	0.318000|0.318000	0.23185|0.23185	0.650000|0.650000	0.86243|0.86243	GCC|ATG		0.627	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427	
DNAH8	1769	broad.mit.edu	37	6	38998047	38998047	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr6:38998047C>G	ENST00000359357.3	+	91	13606	c.13352C>G	c.(13351-13353)cCt>cGt	p.P4451R	DNAH8_ENST00000441566.1_Missense_Mutation_p.P4415R			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4451					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATGTGTGTCCTATTTACAAG	0.507																																						uc003ooe.1																			0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(13351-13353)CCT>CGT		dynein, axonemal, heavy polypeptide 8							135.0	128.0	130.0					6																	38998047		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38998047C>G	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.13352C>G	6.37:g.38998047C>G	ENSP00000352312:p.Pro4451Arg						p.P4451R	NM_001371	NP_001362					91	13952	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.13352C>G		.	.	.	.	.	.	.	.	.	.	C	23.9	4.466165	0.84425	.	.	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.49720	0.77;0.77;0.77	5.15	5.15	0.70609	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.82116	0.4967	H	0.99712	4.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90778	0.4677	10	0.87932	D	0	.	18.6417	0.91398	0.0:1.0:0.0:0.0	.	4451	Q96JB1	DYH8_HUMAN	R	4656;4451;4415	ENSP00000333363:P4656R;ENSP00000352312:P4451R;ENSP00000402294:P4415R	ENSP00000333363:P4656R	P	+	2	0	DNAH8	39106025	1.000000	0.71417	0.971000	0.41717	0.769000	0.43574	7.628000	0.83189	2.397000	0.81536	0.650000	0.86243	CCT		0.507	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
COL10A1	1300	broad.mit.edu	37	6	116442546	116442546	+	Missense_Mutation	SNP	G	G	T	rs555747394		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr6:116442546G>T	ENST00000327673.4	-	2	1140	c.733C>A	c.(733-735)Cca>Aca	p.P245T	NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_Missense_Mutation_p.G67V|COL10A1_ENST00000243222.4_Missense_Mutation_p.P245T			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	245	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GGGCCAATTGGTCCCATTTCT	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		19167	0.0		0.0	False		,,,				2504	0.001					uc003pwm.2																			0				central_nervous_system(1)	1						c.(733-735)CCA>ACA		type X collagen alpha 1 precursor							56.0	61.0	60.0					6																	116442546		2203	4300	6503	SO:0001583	missense	1300				skeletal system development	collagen	metal ion binding	g.chr6:116442546G>T		CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"""Collagens"""	2185	protein-coding gene	gene with protein product	"""Schmid metaphyseal chondrodysplasia"""	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.733C>A	6.37:g.116442546G>T	ENSP00000327368:p.Pro245Thr					NT5DC1_uc003pwj.2_Intron|NT5DC1_uc003pwk.2_Intron|NT5DC1_uc003pwl.2_Intron	p.P245T	NM_000493	NP_000484	Q03692	COAA1_HUMAN		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)	3	829	-		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)	245			Triple-helical region.		A1L4P2	Missense_Mutation	SNP	ENST00000327673.4	37	c.733C>A	CCDS5105.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.186|1.186	-0.636707|-0.636707	0.03557|0.03557	.|.	.|.	ENSG00000234188|ENSG00000123500	ENST00000430695|ENST00000243222;ENST00000327673	.|D;D	.|0.98666	.|-5.06;-5.06	5.52|5.52	1.62|1.62	0.23740|0.23740	.|.	.|0.518860	.|0.21857	.|N	.|0.068093	D|D	0.94450|0.94450	0.8214|0.8214	M|M	0.71036|0.71036	2.16|2.16	0.19300|0.19300	N|N	0.999974|0.999974	.|B	.|0.21606	.|0.058	.|B	.|0.18561	.|0.022	D|D	0.87072|0.87072	0.2160|0.2160	6|10	0.30854|0.13470	T|T	0.27|0.59	.|.	12.9604|12.9604	0.58455|0.58455	0.0635:0.4596:0.4768:0.0|0.0635:0.4596:0.4768:0.0	.|.	.|245	.|Q03692	.|COAA1_HUMAN	V|T	67|245	.|ENSP00000243222:P245T;ENSP00000327368:P245T	ENSP00000415795:G67V|ENSP00000243222:P245T	G|P	+|-	2|1	0|0	AL121963.1|COL10A1	116549239|116549239	0.999000|0.999000	0.42202|0.42202	0.004000|0.004000	0.12327|0.12327	0.033000|0.033000	0.12548|0.12548	2.599000|2.599000	0.46231|0.46231	0.070000|0.070000	0.16634|0.16634	0.563000|0.563000	0.77884|0.77884	GGT|CCA		0.597	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041926.1		
CRHR2	1395	broad.mit.edu	37	7	30695576	30695576	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:30695576C>T	ENST00000471646.1	-	9	1301	c.884G>A	c.(883-885)cGc>cAc	p.R295H	CRHR2_ENST00000341843.4_Missense_Mutation_p.R281H|CRHR2_ENST00000348438.4_Missense_Mutation_p.R322H|CRHR2_ENST00000506074.2_Missense_Mutation_p.R295H	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	295					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGTGGACGCGCGTAACTTTGT	0.552																																						uc003tbn.2																			0				lung(2)|ovary(1)|skin(1)	4						c.(883-885)CGC>CAC		corticotropin releasing hormone receptor 2							174.0	160.0	165.0					7																	30695576		2203	4300	6503	SO:0001583	missense	1395				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr7:30695576C>T		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.884G>A	7.37:g.30695576C>T	ENSP00000418722:p.Arg295His					CRHR2_uc010kvw.1_Missense_Mutation_p.R295H|CRHR2_uc010kvx.1_Missense_Mutation_p.R294H|CRHR2_uc010kvy.1_Missense_Mutation_p.R131H|CRHR2_uc003tbo.2_Missense_Mutation_p.R281H|CRHR2_uc003tbp.2_Missense_Mutation_p.R322H	p.R295H	NM_001883	NP_001874	Q13324	CRFR2_HUMAN			9	1128	-			295			Cytoplasmic (Potential).		B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP	ENST00000471646.1	37	c.884G>A	CCDS5429.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.524148	0.64747	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843;ENST00000506074	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	4.71	3.83	0.44106	GPCR, family 2-like (1);	0.052609	0.64402	D	0.000001	T	0.62612	0.2442	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.993;0.998;0.988;0.988;0.997	T	0.65344	-0.6191	10	0.62326	D	0.03	.	10.8245	0.46625	0.0:0.9056:0.0:0.0944	.	294;295;322;281;295	B3SXT0;B3SXS6;Q13324-2;Q13324-3;Q13324	.;.;.;.;CRFR2_HUMAN	H	295;322;281;295	ENSP00000418722:R295H;ENSP00000340943:R322H;ENSP00000344304:R281H;ENSP00000426498:R295H	ENSP00000344304:R281H	R	-	2	0	CRHR2	30662101	0.995000	0.38212	0.443000	0.26883	0.349000	0.29174	6.059000	0.71133	1.109000	0.41680	0.462000	0.41574	CGC		0.552	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3		
GTF2IRD1	9569	broad.mit.edu	37	7	74004217	74004217	+	Silent	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:74004217C>T	ENST00000265755.3	+	23	2796	c.2403C>T	c.(2401-2403)atC>atT	p.I801I	GTF2IRD1_ENST00000455841.2_Silent_p.I818I|GTF2IRD1_ENST00000476977.1_Silent_p.I786I|GTF2IRD1_ENST00000424337.2_Silent_p.I786I	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	801					multicellular organismal development (GO:0007275)|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)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAAGGTGATCCTGCGGGAGC	0.592																																						uc003uaq.2																			0				ovary(4)	4						c.(2401-2403)ATC>ATT		GTF2I repeat domain containing 1 isoform 1							84.0	68.0	74.0					7																	74004217		2203	4300	6503	SO:0001819	synonymous_variant	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:74004217C>T	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.2403C>T	7.37:g.74004217C>T						GTF2IRD1_uc010lbq.2_Silent_p.I818I|GTF2IRD1_uc003uap.2_Silent_p.I786I|GTF2IRD1_uc003uar.1_Silent_p.I786I	p.I801I	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN			23	2796	+			801			GTF2I-like 5.		O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Silent	SNP	ENST00000265755.3	37	c.2403C>T	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391272	0.25118	.	.	ENSG00000006704	ENST00000470715	.	.	.	5.36	1.43	0.22495	.	.	.	.	.	T	0.54598	0.1868	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45542	-0.9254	4	.	.	.	-21.805	7.2967	0.26397	0.0:0.5019:0.0:0.4981	.	.	.	.	S	164	.	.	P	+	1	0	GTF2IRD1	73642153	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	0.659000	0.24994	0.399000	0.25367	-0.378000	0.06908	CCT		0.592	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328	
CTTNBP2	83992	broad.mit.edu	37	7	117400762	117400762	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:117400762C>A	ENST00000160373.3	-	10	2990	c.2899G>T	c.(2899-2901)Gct>Tct	p.A967S		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	967					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ATTTTAAGAGCATCTGTTAGA	0.284																																						uc003vjf.2																			0				ovary(4)|central_nervous_system(1)	5						c.(2899-2901)GCT>TCT		cortactin binding protein 2							62.0	64.0	63.0					7																	117400762		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117400762C>A		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.2899G>T	7.37:g.117400762C>A	ENSP00000160373:p.Ala967Ser						p.A967S	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	10	2991	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		967					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.2899G>T	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.21|17.21	3.330748|3.330748	0.60853|0.60853	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000160373|ENST00000446636	T|.	0.64438|.	-0.1|.	5.3|5.3	5.3|5.3	0.74995|0.74995	Ankyrin repeat-containing domain (1);|.	0.406531|.	0.27645|.	N|.	0.018457|.	T|T	0.37433|0.37433	0.1003|0.1003	N|N	0.13168|0.13168	0.305|0.305	0.32500|0.32500	N|N	0.539032|0.539032	P|.	0.39759|.	0.687|.	B|.	0.34242|.	0.178|.	T|T	0.43940|0.43940	-0.9360|-0.9360	10|5	0.15952|.	T|.	0.53|.	-0.0297|-0.0297	14.1978|14.1978	0.65682|0.65682	0.1496:0.8504:0.0:0.0|0.1496:0.8504:0.0:0.0	.|.	967|.	Q8WZ74|.	CTTB2_HUMAN|.	S|F	967|454	ENSP00000160373:A967S|.	ENSP00000160373:A967S|.	A|C	-|-	1|2	0|0	CTTNBP2|CTTNBP2	117187998|117187998	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	2.784000|2.784000	0.47774|0.47774	2.635000|2.635000	0.89317|0.89317	0.650000|0.650000	0.86243|0.86243	GCT|TGC		0.284	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427	
FLNC	2318	broad.mit.edu	37	7	128489530	128489530	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:128489530C>G	ENST00000325888.8	+	30	5358	c.5097C>G	c.(5095-5097)gaC>gaG	p.D1699E	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.D1699E	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1699					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGAACCATGACGGTACCTTTG	0.612																																						uc003vnz.3																			0				breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(5095-5097)GAC>GAG		gamma filamin isoform a							95.0	112.0	106.0					7																	128489530		2185	4259	6444	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128489530C>G	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5097C>G	7.37:g.128489530C>G	ENSP00000327145:p.Asp1699Glu					FLNC_uc003voa.3_Missense_Mutation_p.D1699E	p.D1699E	NM_001458	NP_001449	Q14315	FLNC_HUMAN			30	5306	+			1699			Filamin 15.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.5097C>G	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698773	0.68501	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.93547	-3.24;-3.24	5.28	-7.05	0.01573	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94538	0.8241	M	0.73430	2.235	0.33004	D	0.526667	D;D	0.89917	0.999;1.0	D;D	0.97110	0.998;1.0	D	0.93387	0.6748	10	0.87932	D	0	.	11.5286	0.50595	0.0:0.4798:0.0867:0.4336	.	1699;1699	Q14315-2;Q14315	.;FLNC_HUMAN	E	1699	ENSP00000327145:D1699E;ENSP00000344002:D1699E	ENSP00000327145:D1699E	D	+	3	2	FLNC	128276766	0.000000	0.05858	0.306000	0.25113	0.912000	0.54170	-4.882000	0.00174	-1.112000	0.02984	-0.415000	0.06103	GAC		0.612	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3		
MEST	4232	broad.mit.edu	37	7	130140656	130140656	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:130140656C>G	ENST00000223215.4	+	9	895	c.674C>G	c.(673-675)aCt>aGt	p.T225S	MEST_ENST00000416162.2_Intron|MEST_ENST00000437945.1_Missense_Mutation_p.T225S|MEST_ENST00000462132.1_3'UTR|MEST_ENST00000341441.5_Missense_Mutation_p.T216S|MEST_ENST00000378576.4_Intron|hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000393187.1_Missense_Mutation_p.T216S	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	225					mesoderm development (GO:0007498)|regulation of lipid storage (GO:0010883)|response to retinoic acid (GO:0032526)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					GGGCCGTATACTCGGCCCTCT	0.498																																					Colon(126;2182 2305 6517 35181)	uc003vqg.2																			0				ovary(2)	2						c.(673-675)ACT>AGT		mesoderm specific transcript isoform a							74.0	65.0	68.0					7																	130140656		2203	4300	6503	SO:0001583	missense	4232				mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding	g.chr7:130140656C>G		CCDS5822.1, CCDS5823.1, CCDS59081.1	7q32	2014-08-22	2012-12-07		ENSG00000106484	ENSG00000106484			7028	protein-coding gene	gene with protein product	"""Paternally-expressed gene 1"""	601029	"""mesoderm specific transcript (mouse) homolog"", ""mesoderm specific transcript homolog (mouse)"""			8884280	Standard	NM_002402		Approved	PEG1	uc003vqg.3	Q5EB52	OTTHUMG00000156661	ENST00000223215.4:c.674C>G	7.37:g.130140656C>G	ENSP00000223215:p.Thr225Ser					MEST_uc003vqc.2_Missense_Mutation_p.T216S|MEST_uc003vqd.2_Intron|MEST_uc003vqf.2_Missense_Mutation_p.T216S|MEST_uc011kph.1_Missense_Mutation_p.T211S|MEST_uc010lmg.2_Missense_Mutation_p.T225S	p.T225S	NM_002402	NP_002393	Q5EB52	MEST_HUMAN			9	891	+	Melanoma(18;0.0435)		225					B2R6S1|O14973|O15007|Q6AI49|Q92571	Missense_Mutation	SNP	ENST00000223215.4	37	c.674C>G	CCDS5822.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913306	0.92178	.	.	ENSG00000106484	ENST00000341441;ENST00000393187;ENST00000223215;ENST00000437945	T;T;T;T	0.03496	3.91;3.91;3.91;3.91	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.15305	0.0369	L	0.55834	1.745	0.80722	D	1	P;D;D	0.76494	0.756;0.999;0.997	P;D;D	0.83275	0.587;0.996;0.994	T	0.01587	-1.1318	10	0.27082	T	0.32	-16.9313	19.3527	0.94395	0.0:1.0:0.0:0.0	.	211;225;225	B4DQW6;C9JW74;Q5EB52	.;.;MEST_HUMAN	S	216;216;225;225	ENSP00000342749:T216S;ENSP00000376884:T216S;ENSP00000223215:T225S;ENSP00000401657:T225S	ENSP00000223215:T225S	T	+	2	0	MEST	129927892	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	7.159000	0.77483	2.821000	0.97095	0.561000	0.74099	ACT		0.498	MEST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345183.2	NM_002402	
BPGM	669	broad.mit.edu	37	7	134346605	134346605	+	Nonsense_Mutation	SNP	A	A	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:134346605A>T	ENST00000393132.2	+	3	835	c.346A>T	c.(346-348)Aga>Tga	p.R116*	BPGM_ENST00000344924.3_Nonsense_Mutation_p.R116*|BPGM_ENST00000418040.1_Nonsense_Mutation_p.R116*	NM_199186.2	NP_954655.1	P07738	PMGE_HUMAN	2,3-bisphosphoglycerate mutase	116	2,3-diphosphoglyceric acid binding.				carbohydrate metabolic process (GO:0005975)|erythrocyte development (GO:0048821)|glycolytic process (GO:0006096)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						GAGGCTCTGGAGAAGAAGCTA	0.493																																						uc003vrv.2																			0					0						c.(346-348)AGA>TGA		bisphosphoglycerate mutase							83.0	73.0	76.0					7																	134346605		2203	4300	6503	SO:0001587	stop_gained	669				glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	g.chr7:134346605A>T	BC017050	CCDS5833.1	7q33	2012-10-02			ENSG00000172331	ENSG00000172331	5.4.2.4		1093	protein-coding gene	gene with protein product		613896					Standard	NM_199186		Approved		uc003vrw.3	P07738	OTTHUMG00000155380	ENST00000393132.2:c.346A>T	7.37:g.134346605A>T	ENSP00000376840:p.Arg116*					BPGM_uc003vrw.2_Nonsense_Mutation_p.R116*|BPGM_uc003vrx.2_Nonsense_Mutation_p.R116*	p.R116*	NM_199186	NP_954655	P07738	PMGE_HUMAN			3	887	+			116					A4D1N9	Nonsense_Mutation	SNP	ENST00000393132.2	37	c.346A>T	CCDS5833.1	.	.	.	.	.	.	.	.	.	.	A	37	6.196200	0.97367	.	.	ENSG00000172331	ENST00000344924;ENST00000418040;ENST00000393132	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.0223	11.88	0.52568	0.7338:0.2661:0.0:0.0	.	.	.	.	X	116	.	ENSP00000342032:R116X	R	+	1	2	BPGM	133997145	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.052000	0.57420	2.304000	0.77564	0.528000	0.53228	AGA		0.493	BPGM-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339763.1	NM_001724	
CNTNAP2	26047	broad.mit.edu	37	7	147336290	147336290	+	Missense_Mutation	SNP	G	G	A	rs201934244	byFrequency	TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:147336290G>A	ENST00000361727.3	+	13	2506	c.1990G>A	c.(1990-1992)Gtt>Att	p.V664I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	664	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GACACAGCTCGTTTACAGCGC	0.498										HNSCC(39;0.1)			G|||	2	0.000399361	0.0	0.0	5008	,	,		17456	0.001		0.001	False		,,,				2504	0.0					uc003weu.1																			0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1990-1992)GTT>ATT		cell recognition molecule Caspr2 precursor							149.0	129.0	136.0					7																	147336290		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147336290G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1990G>A	7.37:g.147336290G>A	ENSP00000354778:p.Val664Ile	HNSCC(39;0.1)					p.V664I	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		13	2506	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	664			Extracellular (Potential).|Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1990G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472598	0.26423	.	.	ENSG00000174469	ENST00000361727;ENST00000455301	T;T	0.13901	2.55;2.55	5.74	-8.23	0.01033	.	0.270973	0.32719	N	0.005740	T	0.04952	0.0133	N	0.05124	-0.11	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.34782	T	0.22	.	13.7415	0.62852	0.7906:0.0915:0.1178:0.0	.	664	Q9UHC6	CNTP2_HUMAN	I	664;55	ENSP00000354778:V664I;ENSP00000392208:V55I	ENSP00000354778:V664I	V	+	1	0	CNTNAP2	146967223	0.022000	0.18835	0.000000	0.03702	0.383000	0.30230	0.561000	0.23515	-1.566000	0.01673	0.561000	0.74099	GTT		0.498	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
DPYSL2	1808	broad.mit.edu	37	8	26510765	26510765	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr8:26510765G>A	ENST00000311151.5	+	13	1891	c.1479G>A	c.(1477-1479)ggG>ggA	p.G493G	DPYSL2_ENST00000523027.1_Silent_p.G457G|DPYSL2_ENST00000521913.1_Silent_p.G457G	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	493					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		AGCTGAGAGGGGTTCCTCGTG	0.602																																						uc003xfb.1																			0				large_intestine(1)	1						c.(1477-1479)GGG>GGA		dihydropyrimidinase-like 2							168.0	158.0	161.0					8																	26510765		2203	4300	6503	SO:0001819	synonymous_variant	1808				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	g.chr8:26510765G>A	D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.1479G>A	8.37:g.26510765G>A						DPYSL2_uc003xfa.2_Silent_p.G598G|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Silent_p.G457G	p.G493G	NM_001386	NP_001377	Q16555	DPYL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)	13	1829	+		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)	493					A8K5H2|B4DR31|D3DSS7|O00424	Silent	SNP	ENST00000311151.5	37	c.1479G>A	CCDS6051.1																																																																																				0.602	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386	
PRKDC	5591	broad.mit.edu	37	8	48746799	48746799	+	Frame_Shift_Del	DEL	T	T	-			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr8:48746799delT	ENST00000314191.2	-	60	8163	c.8107delA	c.(8107-8109)aggfs	p.R2703fs	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2704	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AGGCCCAGCCTTTTTTTCCCA	0.498								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2																			0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(8110-8112)AGGfs	NHEJ	protein kinase, DNA-activated, catalytic							248.0	251.0	250.0					8																	48746799		1981	4176	6157	SO:0001589	frameshift_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48746799delT		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8107delA	8.37:g.48746799delT	ENSP00000313420:p.Arg2703fs					PRKDC_uc003xqj.2_Frame_Shift_Del_p.R2704fs|PRKDC_uc011ldh.1_Intron	p.R2704fs	NM_006904	NP_008835	P78527	PRKDC_HUMAN			60	8167	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2704			KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Del	DEL	ENST00000314191.2	37	c.8110delA																																																																																					0.498	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640	
FBXL6	26233	broad.mit.edu	37	8	145579316	145579316	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr8:145579316C>G	ENST00000331890.5	-	9	1559	c.1495G>C	c.(1495-1497)Ggc>Cgc	p.G499R	TMEM249_ENST00000398633.3_5'Flank|SLC52A2_ENST00000402965.1_5'Flank|FBXL6_ENST00000455319.2_Missense_Mutation_p.G493R|SLC52A2_ENST00000530047.1_5'Flank|SLC52A2_ENST00000527078.1_5'Flank|FBXL6_ENST00000526524.1_5'UTR|TMEM249_ENST00000531225.1_5'Flank|SLC52A2_ENST00000329994.2_5'Flank|SLC52A2_ENST00000532887.1_5'Flank	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	499					protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)		ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TAGAGCAGGCCCGGGCAGCTG	0.657																																						uc003zcb.2																			0				ovary(1)|lung(1)	2						c.(1495-1497)GGC>CGC		F-box and leucine-rich repeat protein 6 isoform							27.0	29.0	29.0					8																	145579316		2197	4298	6495	SO:0001583	missense	26233				proteolysis		ubiquitin-protein ligase activity	g.chr8:145579316C>G	AF174592	CCDS6422.1, CCDS47942.1	8q24.3	2011-06-09			ENSG00000182325	ENSG00000182325		"""F-boxes / Leucine-rich repeats"""	13603	protein-coding gene	gene with protein product		609076				10531035, 10531037	Standard	NM_012162		Approved	FBL6	uc003zcb.3	Q8N531	OTTHUMG00000165169	ENST00000331890.5:c.1495G>C	8.37:g.145579316C>G	ENSP00000330098:p.Gly499Arg					C8ORFK29_uc011llb.1_5'Flank|C8ORFK29_uc010mfw.2_5'Flank|C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_Missense_Mutation_p.G226R|FBXL6_uc003zca.2_Missense_Mutation_p.G493R|FBXL6_uc010mfx.2_Missense_Mutation_p.G260R|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank	p.G499R	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		9	1520	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		499			LRR 11.		Q53G43|Q9H5W9|Q9UKC7	Missense_Mutation	SNP	ENST00000331890.5	37	c.1495G>C	CCDS6422.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028485	0.54790	.	.	ENSG00000182325	ENST00000455319;ENST00000331890	T;T	0.16324	5.57;2.35	4.94	3.12	0.35913	.	0.358605	0.23744	N	0.045000	T	0.10680	0.0261	N	0.17474	0.49	0.36469	D	0.867121	P;P	0.44429	0.745;0.835	B;B	0.42798	0.224;0.398	T	0.19353	-1.0308	10	0.42905	T	0.14	-21.6895	6.9134	0.24347	0.0:0.792:0.0:0.208	.	499;493	Q8N531;Q8N531-2	FBXL6_HUMAN;.	R	493;499	ENSP00000403873:G493R;ENSP00000330098:G499R	ENSP00000330098:G499R	G	-	1	0	FBXL6	145550124	0.914000	0.31030	0.924000	0.36721	0.802000	0.45316	1.717000	0.37991	1.072000	0.40860	0.467000	0.42956	GGC		0.657	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382413.1	NM_024555	
IFT74	80173	broad.mit.edu	37	9	26984346	26984346	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr9:26984346G>C	ENST00000443698.1	+	5	568	c.397G>C	c.(397-399)Gaa>Caa	p.E133Q	IFT74_ENST00000380062.5_Missense_Mutation_p.E133Q|IFT74_ENST00000429045.2_Missense_Mutation_p.E133Q|IFT74_ENST00000433700.1_Missense_Mutation_p.E133Q	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74	133					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|keratinocyte development (GO:0003334)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|nucleus (GO:0005634)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TTTGTCATATGAAAAGAGGTG	0.264																																						uc010mja.2																			0				skin(1)	1						c.(397-399)GAA>CAA		coiled-coil domain containing 2 isoform a							38.0	40.0	39.0					9																	26984346		1792	4045	5837	SO:0001583	missense	80173					cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum		g.chr9:26984346G>C	AK023707	CCDS43793.1, CCDS47955.1	9p21.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000096872	ENSG00000096872		"""Intraflagellar transport homologs"""	21424	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 1"""	608040	"""coiled-coil domain containing 2"", ""intraflagellar transport 74 homolog (Chlamydomonas)"""	CCDC2		11683410	Standard	NM_001099223		Approved	CMG1, CMG-1, FLJ22621	uc003zqg.4	Q96LB3	OTTHUMG00000021028	ENST00000443698.1:c.397G>C	9.37:g.26984346G>C	ENSP00000404122:p.Glu133Gln					IFT74_uc010mjb.2_Missense_Mutation_p.E133Q|IFT74_uc003zqf.3_Missense_Mutation_p.E133Q|IFT74_uc003zqg.3_Missense_Mutation_p.E133Q	p.E133Q	NM_001099223	NP_001092693	Q96LB3	IFT74_HUMAN		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)	5	524	+		all_neural(11;2.36e-10)	133			Potential.		Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Missense_Mutation	SNP	ENST00000443698.1	37	c.397G>C	CCDS43793.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377903	0.82682	.	.	ENSG00000096872	ENST00000519968;ENST00000433700;ENST00000443698;ENST00000380062;ENST00000544022;ENST00000429045;ENST00000517866	T;T;T;T;T;T	0.58210	0.35;1.19;1.19;1.19;1.19;1.19	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.71517	0.3349	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.976	T	0.68823	-0.5307	10	0.29301	T	0.29	-21.8139	14.5819	0.68298	0.0:0.0:0.8539:0.1461	.	133;133	Q96LB3;Q96LB3-2	IFT74_HUMAN;.	Q	133;133;133;133;133;133;95	ENSP00000430004:E133Q;ENSP00000389224:E133Q;ENSP00000404122:E133Q;ENSP00000369402:E133Q;ENSP00000393907:E133Q;ENSP00000430742:E95Q	ENSP00000369402:E133Q	E	+	1	0	IFT74	26974346	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.359000	0.97115	2.674000	0.91012	0.585000	0.79938	GAA		0.264	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055476.2	NM_025103	
GAPVD1	26130	broad.mit.edu	37	9	128069702	128069702	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr9:128069702C>A	ENST00000495955.1	+	7	1417	c.1127C>A	c.(1126-1128)gCc>gAc	p.A376D	GAPVD1_ENST00000265956.4_Missense_Mutation_p.A376D|GAPVD1_ENST00000470056.1_Missense_Mutation_p.A376D|GAPVD1_ENST00000394104.2_Missense_Mutation_p.A376D|GAPVD1_ENST00000394084.1_Missense_Mutation_p.A376D|GAPVD1_ENST00000312123.9_Missense_Mutation_p.A376D|GAPVD1_ENST00000394083.2_Missense_Mutation_p.A376D|GAPVD1_ENST00000297933.6_Missense_Mutation_p.A376D|GAPVD1_ENST00000394105.2_Missense_Mutation_p.A376D			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	376					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGCTGTGTTGCCGCTTTCCTT	0.408																																						uc010mwx.2																			0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1126-1128)GCC>GAC		GTPase activating protein and VPS9 domains 1							50.0	49.0	50.0					9																	128069702		2203	4300	6503	SO:0001583	missense	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128069702C>A		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.1127C>A	9.37:g.128069702C>A	ENSP00000419063:p.Ala376Asp					GAPVD1_uc004bpo.2_Missense_Mutation_p.A376D|GAPVD1_uc011lzs.1_Missense_Mutation_p.A376D|GAPVD1_uc004bpp.2_Missense_Mutation_p.A376D|GAPVD1_uc004bpq.2_Missense_Mutation_p.A376D|GAPVD1_uc004bpr.2_Missense_Mutation_p.A376D|GAPVD1_uc004bps.2_Missense_Mutation_p.A376D|GAPVD1_uc010mwy.1_Missense_Mutation_p.A235D	p.A376D	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN			7	1453	+			376					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37	c.1127C>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	27.4|27.4|27.4	4.829504|4.829504|4.829504	0.90955|0.90955|0.90955	.|.|.	.|.|.	ENSG00000165219|ENSG00000165219|ENSG00000165219	ENST00000394084;ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000436712|ENST00000431329	T;T;T;T;T;T;T;T;T;T|.|.	0.81415|.|.	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49|.|.	5.17|5.17|5.17	5.17|5.17|5.17	0.71159|0.71159|0.71159	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|.|T	0.54549|.|0.54549	0.1865|.|0.1865	N|N|N	0.24115|0.24115|0.24115	0.695|0.695|0.695	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D;D;D;D|.|.	0.89917|.|.	0.999;0.998;0.999;0.999;0.999;1.0;0.964|.|.	D;D;D;D;D;D;P|.|.	0.83275|.|.	0.994;0.987;0.991;0.994;0.994;0.996;0.532|.|.	T|.|T	0.49476|.|0.49476	-0.8936|.|-0.8936	10|.|5	0.56958|.|.	D|.|.	0.05|.|.	.|.|.	18.0112|18.0112|18.0112	0.89224|0.89224|0.89224	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	376;376;376;376;376;376;376|.|.	Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6;B0QZ65|.|.	.;GAPD1_HUMAN;.;.;.;.;.|.|.	D|X|T	376|206|239	ENSP00000377646:A376D;ENSP00000419767:A376D;ENSP00000377665:A376D;ENSP00000377664:A376D;ENSP00000265956:A376D;ENSP00000377645:A376D;ENSP00000419063:A376D;ENSP00000418747:A376D;ENSP00000297933:A376D;ENSP00000309582:A376D|.|.	ENSP00000265956:A376D|.|.	A|C|P	+|+|+	2|3|1	0|2|0	GAPVD1|GAPVD1|GAPVD1	127109523|127109523|127109523	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.963000|0.963000|0.963000	0.63663|0.63663|0.63663	7.587000|7.587000|7.587000	0.82613|0.82613|0.82613	2.571000|2.571000|2.571000	0.86741|0.86741|0.86741	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GCC|TGC|CCG		0.408	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1		
SLC2A6	11182	broad.mit.edu	37	9	136338317	136338317	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr9:136338317G>A	ENST00000371899.4	-	9	1355	c.1278C>T	c.(1276-1278)ccC>ccT	p.P426P	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Silent_p.P364P	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	426					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GGGCACGCAGGGGCAGGACCT	0.672																																						uc004cee.2																			0					0						c.(1276-1278)CCC>CCT		solute carrier family 2 (facilitated glucose							42.0	35.0	37.0					9																	136338317		2196	4296	6492	SO:0001819	synonymous_variant	11182					integral to membrane|plasma membrane	D-glucose transmembrane transporter activity	g.chr9:136338317G>A	AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"""Solute carriers"""	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.1278C>T	9.37:g.136338317G>A						SLC2A6_uc004cef.2_Silent_p.P364P|SLC2A6_uc004ceg.2_Silent_p.P403P	p.P426P	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)	9	1373	-			426			Cytoplasmic (Potential).		A6NNU6|Q5SXD7|Q8NCC2	Silent	SNP	ENST00000371899.4	37	c.1278C>T	CCDS6975.1																																																																																				0.672	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054909.1	NM_017585	
TUBBP5	643224	broad.mit.edu	37	9	141070915	141070915	+	RNA	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr9:141070915C>T	ENST00000503395.1	+	0	1690									tubulin, beta pseudogene 5									p.T178T(1)									TGTCAGACACCGTGGTGGAGC	0.522																																						uc004com.2																			1	Substitution - coding silent(1)		prostate(1)		0						c.(316-318)ACC>ACT		RecName: Full=Putative tubulin beta-4q chain;																																						643224							g.chr9:141070915C>T	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070915C>T						TUBBP5_uc010ncq.2_3'UTR	p.T106T							4	579	+									Silent	SNP	ENST00000503395.1	37	c.318C>T																																																																																					0.522	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156	
SYTL5	94122	broad.mit.edu	37	X	37955451	37955451	+	Silent	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chrX:37955451C>T	ENST00000357972.5	+	9	1572	c.1026C>T	c.(1024-1026)agC>agT	p.S342S	SYTL5_ENST00000456733.2_Silent_p.S342S|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Silent_p.S342S			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	342					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						ATACTGTAAGCATAAGAAGCA	0.413																																						uc004ddu.2																			0				skin(1)	1						c.(1024-1026)AGC>AGT		synaptotagmin-like 5 isoform 1							105.0	93.0	97.0					X																	37955451		2202	4300	6502	SO:0001819	synonymous_variant	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37955451C>T		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.1026C>T	X.37:g.37955451C>T						SYTL5_uc004ddv.2_Silent_p.S342S|SYTL5_uc004ddx.2_Silent_p.S342S	p.S342S	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN			10	1560	+			342					A2RRF2	Silent	SNP	ENST00000357972.5	37	c.1026C>T	CCDS14244.1																																																																																				0.413	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780	
