#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_filter	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SPEN	23013	broad.mit.edu	37	1	16257904	16257904	+	Silent	SNP	A	A	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:16257904A>T	ENST00000375759.3	+	11	5373	c.5169A>T	c.(5167-5169)tcA>tcT	p.S1723S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1723					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.S1723S(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGGAAGGTTCATCAGGTGACC	0.592																																						uc001axk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(5167-5169)TCA>TCT		spen homolog, transcriptional regulator							137.0	148.0	144.0					1																	16257904		2203	4300	6503	SO:0001819	synonymous_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16257904A>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.5169A>T	1.37:g.16257904A>T						SPEN_uc010obp.1_Silent_p.S1682S	p.S1723S	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	5373	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	1723					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	c.5169A>T	CCDS164.1																																																																																				PASS	0.592	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		62	59	62	59	---	---	---	---
KLHDC7A	127707	broad.mit.edu	37	1	18808281	18808281	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:18808281G>A	ENST00000400664.1	+	1	858	c.806G>A	c.(805-807)cGa>cAa	p.R269Q		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	269						integral component of membrane (GO:0016021)		p.R269Q(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCGCGTCCGAATGGAGGAG	0.592																																						uc001bax.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(805-807)CGA>CAA		kelch domain containing 7A							75.0	80.0	78.0					1																	18808281		2203	4300	6503	SO:0001583	missense	127707					integral to membrane		g.chr1:18808281G>A	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.806G>A	1.37:g.18808281G>A	ENSP00000383505:p.Arg269Gln					KLHDC7A_uc009vpg.2_Missense_Mutation_p.R51Q	p.R269Q	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	858	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	269					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.806G>A	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	8.941	0.965762	0.18583	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.72725	-0.68	5.02	1.69	0.24217	.	0.781774	0.11306	N	0.577697	T	0.36744	0.0978	N	0.04880	-0.145	0.09310	N	1	P;P	0.35401	0.499;0.499	B;B	0.23716	0.029;0.048	T	0.21008	-1.0258	10	0.09338	T	0.73	.	4.1279	0.10136	0.3386:0.0:0.4955:0.1659	.	206;269	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	Q	269;206	ENSP00000383505:R269Q	ENSP00000383505:R269Q	R	+	2	0	KLHDC7A	18680868	0.318000	0.24598	0.225000	0.23894	0.198000	0.23893	1.616000	0.36933	0.519000	0.28406	0.313000	0.20887	CGA		PASS	0.592	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		17	32	17	32	---	---	---	---
GRIK3	2899	broad.mit.edu	37	1	37337887	37337887	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:37337887C>G	ENST00000373091.3	-	4	650	c.634G>C	c.(634-636)Gac>Cac	p.D212H	GRIK3_ENST00000373093.4_Missense_Mutation_p.D212H	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	212					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.D212H(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CGCGAGTCGTCAGAGTCGATG	0.592																																						uc001caz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(634-636)GAC>CAC		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						98.0	84.0	89.0					1																	37337887		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37337887C>G	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.634G>C	1.37:g.37337887C>G	ENSP00000362183:p.Asp212His					GRIK3_uc001cba.1_Missense_Mutation_p.D212H	p.D212H	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			4	769	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	212			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.634G>C	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920228	0.52653	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.83673	-1.75;-1.75	5.22	5.22	0.72569	Extracellular ligand-binding receptor (1);	0.183475	0.48767	D	0.000177	D	0.82879	0.5133	L	0.42245	1.32	0.40774	D	0.983115	P;P	0.38078	0.617;0.617	B;B	0.43783	0.431;0.431	D	0.84305	0.0507	10	0.54805	T	0.06	.	18.7775	0.91916	0.0:1.0:0.0:0.0	.	212;212	A9Z1Z8;Q13003	.;GRIK3_HUMAN	H	212	ENSP00000362183:D212H;ENSP00000362185:D212H	ENSP00000362183:D212H	D	-	1	0	GRIK3	37110474	0.446000	0.25665	0.639000	0.29394	0.835000	0.47333	1.109000	0.31135	2.460000	0.83146	0.561000	0.74099	GAC		PASS	0.592	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		5	16	5	16	---	---	---	---
LRRIQ3	127255	broad.mit.edu	37	1	74507460	74507460	+	Silent	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:74507460G>T	ENST00000395089.1	-	6	1154	c.1155C>A	c.(1153-1155)atC>atA	p.I385I	LRRIQ3_ENST00000354431.4_Silent_p.I385I			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	385								p.I385I(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GAGTAGTATAGATTGGCTGAG	0.363																																						uc001dfy.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1153-1155)ATC>ATA		leucine-rich repeats and IQ motif containing 3							104.0	96.0	98.0					1																	74507460		1834	4093	5927	SO:0001819	synonymous_variant	127255							g.chr1:74507460G>T	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1155C>A	1.37:g.74507460G>T						LRRIQ3_uc001dfz.3_RNA	p.I385I	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			7	1347	-			385					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	ENST00000395089.1	37	c.1155C>A	CCDS41350.1																																																																																				PASS	0.363	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		17	16	17	16	---	---	---	---
USP33	23032	broad.mit.edu	37	1	78207351	78207351	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:78207351A>C	ENST00000370793.1	-	3	471	c.125T>G	c.(124-126)tTg>tGg	p.L42W	USP33_ENST00000370794.3_Missense_Mutation_p.L11W|USP33_ENST00000528150.1_5'UTR|USP33_ENST00000357428.1_Missense_Mutation_p.L42W|USP33_ENST00000370792.3_Missense_Mutation_p.L42W	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	42					axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.L42W(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						AACTGAATCCAAATGTGGACA	0.313																																					Melanoma(152;72 1870 11110 26780 42647)	uc001dht.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(124-126)TTG>TGG		ubiquitin specific protease 33 isoform 1							42.0	44.0	43.0					1																	78207351		2202	4289	6491	SO:0001583	missense	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78207351A>C	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.125T>G	1.37:g.78207351A>C	ENSP00000359829:p.Leu42Trp					USP33_uc001dhu.2_Missense_Mutation_p.L11W|USP33_uc001dhv.2_5'Flank|USP33_uc001dhw.2_Missense_Mutation_p.L42W	p.L42W	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN			3	472	-			42					Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	c.125T>G	CCDS678.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.569148	0.86439	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792;ENST00000524536;ENST00000530709;ENST00000524778	T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78	5.62	5.62	0.85841	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.53367	0.1792	L	0.39898	1.24	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.59053	-0.7526	10	0.87932	D	0	.	16.1325	0.81454	1.0:0.0:0.0:0.0	.	42;42	Q8TEY7-3;Q8TEY7	.;UBP33_HUMAN	W	11;42;42;42;42;42;11	ENSP00000359830:L11W;ENSP00000359829:L42W;ENSP00000350009:L42W;ENSP00000359828:L42W;ENSP00000434441:L42W;ENSP00000433283:L42W;ENSP00000436441:L11W	ENSP00000350009:L42W	L	-	2	0	USP33	77979939	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.486000	0.90451	2.272000	0.75746	0.460000	0.39030	TTG		PASS	0.313	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		10	10	10	10	---	---	---	---
WDR63	126820	broad.mit.edu	37	1	85592285	85592285	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:85592285G>T	ENST00000294664.6	+	20	2384	c.2204G>T	c.(2203-2205)cGa>cTa	p.R735L	WDR63_ENST00000326813.8_Missense_Mutation_p.R696L|WDR63_ENST00000370596.1_Missense_Mutation_p.R696L	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	735								p.R735L(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TACATCGGCCGAGAAGATGGA	0.488																																						uc001dkt.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5						c.(2203-2205)CGA>CTA		WD repeat domain 63							65.0	63.0	64.0					1																	85592285		2203	4300	6503	SO:0001583	missense	126820							g.chr1:85592285G>T		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.2204G>T	1.37:g.85592285G>T	ENSP00000294664:p.Arg735Leu					WDR63_uc009wcl.2_Missense_Mutation_p.R696L	p.R735L	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	20	2395	+			735			WD 4.		A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	c.2204G>T	CCDS702.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963378	0.74016	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664;ENST00000484007	T;T;T;T	0.62639	0.01;0.01;0.01;1.62	5.03	5.03	0.67393	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.162642	0.53938	D	0.000060	T	0.62732	0.2452	M	0.73430	2.235	0.40878	D	0.983979	D;D	0.56968	0.973;0.978	P;P	0.54759	0.76;0.728	T	0.66799	-0.5832	10	0.46703	T	0.11	-12.4269	9.4413	0.38670	0.0771:0.1444:0.7785:0.0	.	696;735	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	L	696;696;735;17	ENSP00000359628:R696L;ENSP00000317463:R696L;ENSP00000294664:R735L;ENSP00000435544:R17L	ENSP00000294664:R735L	R	+	2	0	WDR63	85364873	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	2.778000	0.47726	2.496000	0.84212	0.557000	0.71058	CGA		PASS	0.488	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		4	29	4	29	---	---	---	---
HFM1	164045	broad.mit.edu	37	1	91740343	91740343	+	Silent	SNP	A	A	G	rs371441106		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:91740343A>G	ENST00000370425.3	-	33	3710	c.3612T>C	c.(3610-3612)agT>agC	p.S1204S	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Silent_p.S883S|HFM1_ENST00000294696.5_Silent_p.S436S	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1204					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.S1204S(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TAAGGTCCACACTTTGAGATT	0.284																																						uc001doa.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(3610-3612)AGT>AGC		HFM1 protein							61.0	66.0	64.0					1																	91740343		2201	4299	6500	SO:0001819	synonymous_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91740343A>G	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3612T>C	1.37:g.91740343A>G						HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Silent_p.S883S|HFM1_uc001dob.3_Silent_p.S392S|HFM1_uc010osv.1_Silent_p.S888S	p.S1204S	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	33	3712	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	1204					B1B0B6|Q8N9Q0	Silent	SNP	ENST00000370425.3	37	c.3612T>C	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	A	3.971	-0.008313	0.07727	.	.	ENSG00000162669	ENST00000430465	.	.	.	5.29	1.62	0.23740	.	.	.	.	.	T	0.28499	0.0705	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.13845	-1.0494	4	.	.	.	.	3.1667	0.06538	0.5359:0.0:0.1675:0.2966	.	.	.	.	A	416	.	.	V	-	2	0	HFM1	91512931	0.992000	0.36948	0.998000	0.56505	0.479000	0.33129	1.145000	0.31577	0.029000	0.15352	-0.756000	0.03474	GTG		PASS	0.284	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		17	9	17	9	---	---	---	---
AMY2B	280	broad.mit.edu	37	1	104116374	104116374	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:104116374G>T	ENST00000361355.4	+	6	1174	c.558G>T	c.(556-558)gaG>gaT	p.E186D	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	186					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)	p.E186D(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TTGCACTGGAGAAAGATTATG	0.403																																						uc001duq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(556-558)GAG>GAT		amylase, pancreatic, alpha-2B precursor							433.0	417.0	423.0					1																	104116374		2203	4300	6503	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104116374G>T	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.558G>T	1.37:g.104116374G>T	ENSP00000354610:p.Glu186Asp					AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.E186D|AMY2B_uc001dus.1_5'Flank	p.E186D	NM_020978	NP_066188	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	6	1174	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	186					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.558G>T	CCDS782.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.379407	0.42207	.	.	ENSG00000240038	ENST00000361355	D	0.98633	-5.04	4.74	1.83	0.25207	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.106321	0.64402	N	0.000005	D	0.95475	0.8530	M	0.82923	2.615	0.51767	D	0.99993	B	0.02656	0.0	B	0.04013	0.001	D	0.92366	0.5901	10	0.37606	T	0.19	.	4.6481	0.12582	0.3319:0.153:0.5151:0.0	.	186	P19961	AMY2B_HUMAN	D	186	ENSP00000354610:E186D	ENSP00000354610:E186D	E	+	3	2	AMY2B	103917897	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	0.655000	0.24933	0.450000	0.26774	0.644000	0.83932	GAG		PASS	0.403	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		83	103	83	103	---	---	---	---
KCND3	3752	broad.mit.edu	37	1	112525141	112525141	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:112525141C>A	ENST00000315987.2	-	2	687	c.208G>T	c.(208-210)Gag>Tag	p.E70*	KCND3_ENST00000369697.1_Nonsense_Mutation_p.E70*|KCND3_ENST00000302127.4_Nonsense_Mutation_p.E70*	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	70					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.E70*(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	AACTCCTTCTCCGTGCTGCCC	0.617																																						uc001ebu.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(208-210)GAG>TAG		potassium voltage-gated channel, Shal-related							108.0	99.0	102.0					1																	112525141		2203	4300	6503	SO:0001587	stop_gained	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112525141C>A	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.208G>T	1.37:g.112525141C>A	ENSP00000319591:p.Glu70*					KCND3_uc001ebv.1_Nonsense_Mutation_p.E70*	p.E70*	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	2	688	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	70			Cytoplasmic (Potential).		O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Nonsense_Mutation	SNP	ENST00000315987.2	37	c.208G>T	CCDS843.1	.	.	.	.	.	.	.	.	.	.	C	38	7.265223	0.98175	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.2179	0.93785	0.0:1.0:0.0:0.0	.	.	.	.	X	70	.	ENSP00000306923:E70X	E	-	1	0	KCND3	112326664	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.999000	0.70665	2.648000	0.89879	0.561000	0.74099	GAG		PASS	0.617	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		10	17	10	17	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144882681	144882681	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:144882681T>A	ENST00000369354.3	-	24	3527	c.3338A>T	c.(3337-3339)cAc>cTc	p.H1113L	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.H1250L|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.H1113L|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.H1250L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1113					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.H1113L(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GATGATATTGTGGGCATTCTT	0.478			T	PDGFRB	MPD																																	uc001elw.3				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - Missense(2)		lung(2)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(3337-3339)CAC>CTC		phosphodiesterase 4D interacting protein isoform							266.0	256.0	260.0					1																	144882681		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144882681T>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3338A>T	1.37:g.144882681T>A	ENSP00000358360:p.His1113Leu					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Missense_Mutation_p.H120L	p.H1113L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	24	3629	-			1113			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.3338A>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	T	5.925	0.354672	0.11239	.	.	ENSG00000178104	ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T	0.01414	4.92;4.92;4.92;4.92	5.84	2.29	0.28610	.	.	.	.	.	T	0.00496	0.0016	L	0.36672	1.1	0.80722	D	1	B	0.20887	0.049	B	0.14023	0.01	T	0.50566	-0.8813	9	0.19147	T	0.46	.	8.4706	0.32982	0.0:0.2284:0.0:0.7716	.	1113	Q5VU43	MYOME_HUMAN	L	1113;1113;1250;1250	ENSP00000358360:H1113L;ENSP00000358363:H1113L;ENSP00000435654:H1250L;ENSP00000358366:H1250L	ENSP00000358360:H1113L	H	-	2	0	PDE4DIP	143594038	0.704000	0.27836	0.993000	0.49108	0.608000	0.37181	0.425000	0.21346	0.143000	0.18926	-0.250000	0.11733	CAC		PASS	0.478	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		51	187	51	187	---	---	---	---
RPTN	126638	broad.mit.edu	37	1	152128280	152128280	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:152128280C>T	ENST00000316073.3	-	3	1359	c.1295G>A	c.(1294-1296)aGa>aAa	p.R432K		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	432	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.R432K(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGGCCTTGTCTGTCTGTCTG	0.527																																						uc001ezs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1294-1296)AGA>AAA		repetin							797.0	696.0	727.0					1																	152128280		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128280C>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1295G>A	1.37:g.152128280C>T	ENSP00000317895:p.Arg432Lys						p.R432K	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			3	1360	-			432			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.1295G>A	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508517	0.44660	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.13089	2.62	5.05	3.12	0.35913	.	.	.	.	.	T	0.08582	0.0213	M	0.79475	2.455	0.09310	N	1	P	0.51791	0.948	P	0.50049	0.629	T	0.13683	-1.0500	9	0.07175	T	0.84	-3.1861	7.8658	0.29537	0.0:0.7422:0.1662:0.0917	.	432	Q6XPR3	RPTN_HUMAN	K	432;87	ENSP00000317895:R432K	ENSP00000317895:R432K	R	-	2	0	RPTN	150394904	0.000000	0.05858	0.013000	0.15412	0.004000	0.04260	-0.484000	0.06528	1.068000	0.40764	0.498000	0.49722	AGA		PASS	0.527	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		163	714	163	714	---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	154112355	154112355	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:154112355C>A	ENST00000368559.3	-	5	711	c.640G>T	c.(640-642)Gga>Tga	p.G214*	NUP210L_ENST00000271854.3_Nonsense_Mutation_p.G214*	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	214					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.G214*(2)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ATCACATCTCCTTGTTTCTCC	0.343																																						uc001fdw.2																			2	Substitution - Nonsense(2)		lung(2)	skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(640-642)GGA>TGA		nucleoporin 210kDa-like isoform 1							308.0	304.0	305.0					1																	154112355		1844	4099	5943	SO:0001587	stop_gained	91181					integral to membrane		g.chr1:154112355C>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.640G>T	1.37:g.154112355C>A	ENSP00000357547:p.Gly214*					NUP210L_uc010peh.1_Nonsense_Mutation_p.G214*	p.G214*	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		5	712	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		214					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Nonsense_Mutation	SNP	ENST00000368559.3	37	c.640G>T	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	36	5.844865	0.97016	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	.	.	.	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-2.3523	15.5629	0.76262	0.0:1.0:0.0:0.0	.	.	.	.	X	214	.	ENSP00000271854:G214X	G	-	1	0	NUP210L	152378979	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.079000	0.71291	2.654000	0.90174	0.561000	0.74099	GGA		PASS	0.343	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		9	556	9	556	---	---	---	---
ATP8B2	57198	broad.mit.edu	37	1	154321553	154321553	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:154321553A>T	ENST00000368489.3	+	28	3631	c.3631A>T	c.(3631-3633)Agt>Tgt	p.S1211C		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1197					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.S1211C(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGACAGTGCCAGTAGCCCCAG	0.637																																						uc001fex.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(3631-3633)AGT>TGT		ATPase, class I, type 8B, member 2 isoform a							38.0	36.0	37.0					1																	154321553		2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154321553A>T	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.3631A>T	1.37:g.154321553A>T	ENSP00000357475:p.Ser1211Cys						p.S1211C	NM_020452	NP_065185	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		28	3631	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		1197			Cytoplasmic (Potential).		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.3631A>T	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.402982	0.42613	.	.	ENSG00000143515	ENST00000368489	T	0.10005	2.92	4.14	3.02	0.34903	.	0.756159	0.11891	N	0.519575	T	0.03053	0.0090	L	0.27053	0.805	0.80722	D	1	P	0.44006	0.824	B	0.40165	0.321	T	0.46498	-0.9187	10	0.56958	D	0.05	.	5.5307	0.16983	0.6879:0.0:0.3121:0.0	.	1211	P98198-3	.	C	1211	ENSP00000357475:S1211C	ENSP00000357475:S1211C	S	+	1	0	ATP8B2	152588177	0.000000	0.05858	1.000000	0.80357	0.757000	0.42996	0.041000	0.13927	0.647000	0.30713	0.459000	0.35465	AGT		PASS	0.637	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		17	20	17	20	---	---	---	---
OR10R2	343406	broad.mit.edu	37	1	158450386	158450386	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:158450386G>C	ENST00000368152.1	+	1	719	c.719G>C	c.(718-720)tGc>tCc	p.C240S	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C240S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TCTTATCTCTGCATTCTGAGG	0.438																																						uc010pik.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|skin(1)	3						c.(718-720)TGC>TCC		olfactory receptor, family 10, subfamily R,							144.0	125.0	131.0					1																	158450386		2203	4300	6503	SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450386G>C	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.719G>C	1.37:g.158450386G>C	ENSP00000357134:p.Cys240Ser					uc001fso.1_RNA	p.C240S	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN			1	719	+	all_hematologic(112;0.0378)		240			Cytoplasmic (Potential).		Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.719G>C	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	g	8.657	0.899728	0.17686	.	.	ENSG00000198965	ENST00000368152	T	0.00084	8.75	4.2	1.07	0.20283	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.16790	0.44	0.09310	N	1	B	0.14012	0.009	B	0.14023	0.01	T	0.27434	-1.0074	9	0.27082	T	0.32	.	2.5996	0.04863	0.1486:0.1689:0.5099:0.1727	.	240	Q8NGX6	O10R2_HUMAN	S	240	ENSP00000357134:C240S	ENSP00000357134:C240S	C	+	2	0	OR10R2	156717010	0.000000	0.05858	0.925000	0.36789	0.679000	0.39708	-2.999000	0.00653	0.922000	0.37019	0.655000	0.94253	TGC		PASS	0.438	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		49	109	49	109	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158622411	158622411	+	Missense_Mutation	SNP	C	C	T	rs551084590		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:158622411C>T	ENST00000368147.4	-	23	3401	c.3221G>A	c.(3220-3222)cGc>cAc	p.R1074H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1074					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R1074H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACGACGTCTGCGTTCTTCTGC	0.438													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18408	0.0		0.0	False		,,,				2504	0.0					uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(3220-3222)CGC>CAC		spectrin, alpha, erythrocytic 1							104.0	96.0	98.0					1																	158622411		1884	4114	5998	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158622411C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3221G>A	1.37:g.158622411C>T	ENSP00000357129:p.Arg1074His						p.R1074H	NM_003126	NP_003117	P02549	SPTA1_HUMAN			23	3420	-	all_hematologic(112;0.0378)		1074					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3221G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925236	0.73213	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.76060	-0.99;-0.99	5.3	5.3	0.74995	.	0.000000	0.32703	N	0.005753	D	0.82641	0.5081	M	0.66939	2.045	0.58432	D	0.999996	D	0.89917	1.0	D	0.71656	0.974	D	0.83848	0.0261	10	0.87932	D	0	.	17.7085	0.88315	0.0:1.0:0.0:0.0	.	1074	P02549	SPTA1_HUMAN	H	1074	ENSP00000357130:R1074H;ENSP00000357129:R1074H	ENSP00000357129:R1074H	R	-	2	0	SPTA1	156889035	1.000000	0.71417	0.997000	0.53966	0.069000	0.16628	4.986000	0.63851	2.769000	0.95229	0.655000	0.94253	CGC		PASS	0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		47	61	47	61	---	---	---	---
PPOX	5498	broad.mit.edu	37	1	161140943	161140943	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:161140943C>A	ENST00000367999.4	+	13	1677	c.1411C>A	c.(1411-1413)Ctg>Atg	p.L471M	PPOX_ENST00000544598.1_Missense_Mutation_p.L179M|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.L471M|PPOX_ENST00000495483.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	471					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)	p.L471M(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGTCAGTGTCCTGGGCACAGA	0.507																																						uc001fyj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1411-1413)CTG>ATG		protoporphyrinogen oxidase							91.0	99.0	96.0					1																	161140943		2203	4300	6503	SO:0001583	missense	5498	Porphyria_Variegata			heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	g.chr1:161140943C>A	BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.1411C>A	1.37:g.161140943C>A	ENSP00000356978:p.Leu471Met					PPOX_uc001fyn.2_Missense_Mutation_p.L179M|PPOX_uc001fyg.2_Missense_Mutation_p.L471M|PPOX_uc001fyl.2_Missense_Mutation_p.L437M|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_Missense_Mutation_p.L309M|PPOX_uc001fyh.2_Missense_Mutation_p.L309M|PPOX_uc010pkg.1_Missense_Mutation_p.L309M|PPOX_uc009wuc.1_Missense_Mutation_p.L272M|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron	p.L471M	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		13	1701	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		471					D3DVG0|Q5VTW8	Missense_Mutation	SNP	ENST00000367999.4	37	c.1411C>A	CCDS1221.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.247219	0.22796	.	.	ENSG00000143224	ENST00000352210;ENST00000367999;ENST00000544598;ENST00000435935	D;D;D	0.94497	-3.44;-3.44;-3.44	4.99	-1.59	0.08453	Amine oxidase (1);	0.160444	0.42682	D	0.000673	D	0.94905	0.8353	M	0.82323	2.585	0.80722	D	1	D;D;D;P	0.89917	1.0;0.999;0.995;0.94	D;D;D;P	0.83275	0.996;0.995;0.996;0.837	D	0.92512	0.6017	10	0.48119	T	0.1	-17.4597	7.3014	0.26422	0.0:0.5096:0.1146:0.3758	.	438;179;142;471	B4DY76;F5GZT7;Q96SE3;P50336	.;.;.;PPOX_HUMAN	M	471;471;179;438	ENSP00000343943:L471M;ENSP00000356978:L471M;ENSP00000444216:L179M	ENSP00000343943:L471M	L	+	1	2	PPOX	159407567	0.014000	0.17966	0.907000	0.35723	0.249000	0.25844	-0.300000	0.08243	-0.148000	0.11234	-1.782000	0.00648	CTG		PASS	0.507	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	NM_000309		7	261	7	261	---	---	---	---
FCGR3A	2214	broad.mit.edu	37	1	161559371	161559371	+	Intron	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:161559371G>T	ENST00000540048.1	-	2	94				FCGR2B_ENST00000403078.3_Intron|RP11-25K21.6_ENST00000537821.2_RNA|FCGR2C_ENST00000473530.2_RNA|FCGR2C_ENST00000466542.2_RNA|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAAAGGCTGTGCTGAAACTCG	0.572																																						uc001gav.2																			0					0						c.(151-153)GTG>GTT		Fc fragment of IgG, low affinity IIc, receptor							60.0	59.0	59.0					1																	161559371		2153	4153	6306	SO:0001627	intron_variant	9103							g.chr1:161559371G>T	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+40786C>A	1.37:g.161559371G>T						FCGR2C_uc009wuj.2_RNA|FCGR2C_uc009wuk.2_RNA	p.V51V	NM_201563	NP_963857			BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	252	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)							A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Silent	SNP	ENST00000540048.1	37	c.153G>T																																																																																					PASS	0.572	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569		38	57	38	57	---	---	---	---
ALDH9A1	223	broad.mit.edu	37	1	165636578	165636578	+	Silent	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:165636578G>T	ENST00000354775.4	-	9	1621	c.1317C>A	c.(1315-1317)acC>acA	p.T439T	ALDH9A1_ENST00000538148.1_Silent_p.T345T	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	415					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)	p.T439T(1)|p.T415T(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GTCCAAAAGTGGTATCATTGG	0.458																																					Ovarian(179;1583 2014 18106 33801 42447)	uc001gdh.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1315-1317)ACC>ACA		aldehyde dehydrogenase 9A1	NADH(DB00157)						106.0	99.0	102.0					1																	165636578		2203	4300	6503	SO:0001819	synonymous_variant	223				carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity	g.chr1:165636578G>T	U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"""Aldehyde dehydrogenases"""	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.1317C>A	1.37:g.165636578G>T						ALDH9A1_uc010pky.1_Silent_p.T345T|ALDH9A1_uc010pkz.1_Silent_p.T429T	p.T439T	NM_000696	NP_000687	P49189	AL9A1_HUMAN			9	1422	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		415					B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Silent	SNP	ENST00000354775.4	37	c.1317C>A	CCDS1250.2																																																																																				PASS	0.458	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083899.1			5	89	5	89	---	---	---	---
SELP	6403	broad.mit.edu	37	1	169563946	169563946	+	Silent	SNP	G	G	A	rs375732703		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:169563946G>A	ENST00000263686.6	-	13	2308	c.2271C>T	c.(2269-2271)acC>acT	p.T757T	SELP_ENST00000367791.2_Silent_p.T571T|SELP_ENST00000458599.2_Silent_p.T573T|SELP_ENST00000367794.2_Silent_p.T695T|SELP_ENST00000367793.2_Silent_p.T695T|SELP_ENST00000367788.2_Silent_p.T695T|SELP_ENST00000367792.2_Silent_p.T573T|SELP_ENST00000367786.2_Silent_p.T695T	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	757	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.T757T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	AGGTTGGCACGGTAGTTGACC	0.428																																						uc001ggi.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(2269-2271)ACC>ACT		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						166.0	148.0	154.0					1																	169563946		2203	4300	6503	SO:0001819	synonymous_variant	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169563946G>A	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.2271C>T	1.37:g.169563946G>A						SELP_uc001ggh.2_Silent_p.T592T|SELP_uc009wvr.2_Silent_p.T757T	p.T757T	NM_003005	NP_002996	P16109	LYAM3_HUMAN			13	2336	-	all_hematologic(923;0.208)		757			Extracellular (Potential).|Sushi 9.		Q5R344|Q8IVD1	Silent	SNP	ENST00000263686.6	37	c.2271C>T	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.551528	0.00918	.	.	ENSG00000174175	ENST00000446728	.	.	.	5.42	-0.667	0.11395	.	.	.	.	.	T	0.07954	0.0199	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34825	-0.9813	4	.	.	.	-0.0158	2.6737	0.05075	0.0923:0.1767:0.2895:0.4415	.	.	.	.	C	573	.	.	R	-	1	0	SELP	167830570	0.001000	0.12720	0.000000	0.03702	0.034000	0.12701	0.140000	0.16056	0.022000	0.15160	0.655000	0.94253	CGT		PASS	0.428	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		23	33	23	33	---	---	---	---
SELE	6401	broad.mit.edu	37	1	169698355	169698355	+	Silent	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:169698355C>T	ENST00000333360.7	-	7	1201	c.1062G>A	c.(1060-1062)caG>caA	p.Q354Q	SELE_ENST00000367776.1_Silent_p.Q354Q|SELE_ENST00000367777.1_Silent_p.Q354Q|SELE_ENST00000367782.4_Silent_p.Q354Q|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367779.4_Silent_p.Q354Q|SELE_ENST00000367775.1_Silent_p.Q292Q|SELE_ENST00000367780.4_Silent_p.Q292Q|SELE_ENST00000367774.1_Silent_p.Q354Q|SELE_ENST00000367781.4_Silent_p.Q354Q	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	354	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)	p.Q354Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	GCTGTGTCCACTGCCCTTGAG	0.448																																						uc001ggm.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(1060-1062)CAG>CAA		selectin E precursor							93.0	88.0	90.0					1																	169698355		2203	4300	6503	SO:0001819	synonymous_variant	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169698355C>T	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1062G>A	1.37:g.169698355C>T						C1orf112_uc001ggj.2_Intron	p.Q354Q	NM_000450	NP_000441	P16581	LYAM2_HUMAN			7	1219	-	all_hematologic(923;0.208)		354			Extracellular (Potential).|Sushi 3.		A2RRD6|P16111	Silent	SNP	ENST00000333360.7	37	c.1062G>A	CCDS1283.1																																																																																				PASS	0.448	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		22	35	22	35	---	---	---	---
METTL18	92342	broad.mit.edu	37	1	169762072	169762072	+	Silent	SNP	T	T	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:169762072T>C	ENST00000310392.4	-	2	1118	c.765A>G	c.(763-765)ccA>ccG	p.P255P	C1orf112_ENST00000456684.1_5'Flank|C1orf112_ENST00000413811.2_5'Flank|C1orf112_ENST00000498289.1_Intron|C1orf112_ENST00000359326.4_5'Flank|METTL18_ENST00000303469.2_Silent_p.P255P|C1orf112_ENST00000286031.6_5'Flank	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	255						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)	p.P255P(1)		kidney(1)|large_intestine(3)|lung(4)	8						GTGTTACTTTTGGTTTCCTGC	0.333																																						uc001ggn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(763-765)CCA>CCG		hypothetical protein MGC9084							115.0	119.0	118.0					1																	169762072		2168	4287	6455	SO:0001819	synonymous_variant	92342					cytoplasm	protein methyltransferase activity	g.chr1:169762072T>C	AL035369	CCDS1284.1	1q24.2	2013-10-11	2011-03-02	2011-03-02	ENSG00000171806	ENSG00000171806			28793	protein-coding gene	gene with protein product	"""histidine protein methyltransferase 1"""	615255	"""chromosome 1 open reading frame 156"""	C1orf156		20864530	Standard	NM_033418		Approved	MGC9084, AsTP2, HPM1	uc001ggn.4	O95568	OTTHUMG00000035813	ENST00000310392.4:c.765A>G	1.37:g.169762072T>C						C1orf112_uc001ggj.2_Intron|C1orf112_uc001ggo.2_5'Flank|uc010plt.1_5'Flank|C1orf112_uc001ggp.2_5'Flank|C1orf112_uc001ggq.2_5'Flank|C1orf112_uc009wvt.2_5'Flank	p.P255P	NM_033418	NP_219486	O95568	MET18_HUMAN			2	1043	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		255					B2R9T5	Silent	SNP	ENST00000310392.4	37	c.765A>G	CCDS1284.1																																																																																				PASS	0.333	METTL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087109.1	NM_033418		39	69	39	69	---	---	---	---
DARS2	55157	broad.mit.edu	37	1	173806114	173806114	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:173806114G>T	ENST00000361951.4	+	8	1427	c.700G>T	c.(700-702)Gga>Tga	p.G234*	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	234					gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)	p.G234*(1)		breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	CAGGGAACCTGGAAAGTTTTA	0.393																																						uc001gjh.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)	2						c.(700-702)GGA>TGA		aspartyl-tRNA synthetase 2, mitochondrial	L-Aspartic Acid(DB00128)						156.0	178.0	171.0					1																	173806114		2203	4300	6503	SO:0001587	stop_gained	55157				tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr1:173806114G>T	AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	25538	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 2, mitochondrial"""	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.700G>T	1.37:g.173806114G>T	ENSP00000355086:p.Gly234*						p.G234*	NM_018122	NP_060592	Q6PI48	SYDM_HUMAN			8	1110	+			234						Nonsense_Mutation	SNP	ENST00000361951.4	37	c.700G>T	CCDS1311.1	.	.	.	.	.	.	.	.	.	.	G	44	10.979568	0.99498	.	.	ENSG00000117593	ENST00000361951	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.2163	17.9836	0.89148	0.0:0.0:1.0:0.0	.	.	.	.	X	234	.	ENSP00000355086:G234X	G	+	1	0	DARS2	172072737	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.447000	0.97595	2.540000	0.85666	0.655000	0.94253	GGA		PASS	0.393	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084220.1	NM_018122		18	280	18	280	---	---	---	---
ASTN1	460	broad.mit.edu	37	1	176992585	176992585	+	Silent	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:176992585G>T	ENST00000367654.3	-	7	1604	c.1393C>A	c.(1393-1395)Cgg>Agg	p.R465R	ASTN1_ENST00000367657.3_Silent_p.R465R|ASTN1_ENST00000361833.2_Silent_p.R465R|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.R465R	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	465	EGF-like 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.R465R(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGGAGCCGCCGGGCACAGAGG	0.622																																						uc001glc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(1393-1395)CGG>AGG		astrotactin isoform 1							29.0	27.0	28.0					1																	176992585		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176992585G>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1393C>A	1.37:g.176992585G>T						ASTN1_uc001glb.1_Silent_p.R465R|ASTN1_uc001gld.1_Silent_p.R465R|ASTN1_uc009wwx.1_Silent_p.R465R|ASTN1_uc001gle.3_RNA	p.R465R	NM_004319	NP_004310	O14525	ASTN1_HUMAN			7	1605	-			465			EGF-like 1.		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.1393C>A																																																																																					PASS	0.622	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		10	7	10	7	---	---	---	---
RGS18	64407	broad.mit.edu	37	1	192153562	192153562	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:192153562G>T	ENST00000367460.3	+	5	767	c.586G>T	c.(586-588)Gac>Tac	p.D196Y		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	196	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.D196Y(1)		kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCTGAAATCTGACATCTATTT	0.413																																						uc001gsg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(586-588)GAC>TAC		regulator of G-protein signalling 18							133.0	125.0	127.0					1																	192153562		2203	4300	6503	SO:0001583	missense	64407				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192153562G>T	AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"""Regulators of G-protein signaling"""	14261	protein-coding gene	gene with protein product		607192	"""regulator of G-protein signalling 18"""			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.586G>T	1.37:g.192153562G>T	ENSP00000356430:p.Asp196Tyr						p.D196Y	NM_130782	NP_570138	Q9NS28	RGS18_HUMAN			5	762	+			196			RGS.		B2RD23	Missense_Mutation	SNP	ENST00000367460.3	37	c.586G>T	CCDS1374.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518777	0.64634	.	.	ENSG00000150681	ENST00000367460	T	0.67523	-0.27	5.62	5.62	0.85841	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.127047	0.64402	D	0.000001	T	0.80929	0.4718	M	0.84156	2.68	0.50171	D	0.999854	D	0.63046	0.992	D	0.65987	0.94	T	0.83233	-0.0062	10	0.87932	D	0	.	11.6765	0.51432	0.0811:0.0:0.9189:0.0	.	196	Q9NS28	RGS18_HUMAN	Y	196	ENSP00000356430:D196Y	ENSP00000356430:D196Y	D	+	1	0	RGS18	190420185	0.746000	0.28272	1.000000	0.80357	0.993000	0.82548	2.864000	0.48404	2.648000	0.89879	0.563000	0.77884	GAC		PASS	0.413	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782		42	24	42	24	---	---	---	---
IL20	50604	broad.mit.edu	37	1	207039697	207039697	+	Silent	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:207039697G>A	ENST00000367098.1	+	3	576	c.213G>A	c.(211-213)ttG>ttA	p.L71L	IL20_ENST00000391930.2_Silent_p.L71L|IL20_ENST00000367096.3_Silent_p.L71L			Q9UHF5	IL17B_HUMAN	interleukin 20	0					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)	p.L71L(1)		endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		CTGAGTCTTTGCAAGACACAA	0.488																																						uc001her.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(211-213)TTG>TTA		interleukin 20 precursor							130.0	132.0	132.0					1																	207039697		2203	4300	6503	SO:0001819	synonymous_variant	50604				positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding	g.chr1:207039697G>A	AF224266	CCDS1470.1	1q32	2008-02-05			ENSG00000162891	ENSG00000162891		"""Interleukins and interleukin receptors"""	6002	protein-coding gene	gene with protein product		605619				11163236	Standard	NM_018724		Approved	ZCYTO10, IL10D, IL-20	uc001her.3	Q9NYY1	OTTHUMG00000036456	ENST00000367098.1:c.213G>A	1.37:g.207039697G>A						IL20_uc010pry.1_Silent_p.L142L|IL20_uc009xby.2_Silent_p.L71L	p.L71L	NM_018724	NP_061194	Q9NYY1	IL20_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00459)	2	257	+	Breast(84;0.201)		71					Q14CE5	Silent	SNP	ENST00000367098.1	37	c.213G>A	CCDS1470.1																																																																																				PASS	0.488	IL20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088676.1	NM_018724		86	44	86	44	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216166399	216166399	+	Silent	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:216166399G>T	ENST00000307340.3	-	35	7154	c.6768C>A	c.(6766-6768)tcC>tcA	p.S2256S	USH2A_ENST00000366943.2_Silent_p.S2256S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2256	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.S2256S(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGACATTAAAGGAGTCAGGTG	0.468										HNSCC(13;0.011)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hku.1																			1	Substitution - coding silent(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(6766-6768)TCC>TCA		usherin isoform B							240.0	239.0	240.0					1																	216166399		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:216166399G>T	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.6768C>A	1.37:g.216166399G>T		HNSCC(13;0.011)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2234		p.S2256S	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	35	7155	-			2256			Fibronectin type-III 9.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.6768C>A	CCDS31025.1																																																																																				PASS	0.468	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		8	191	8	191	---	---	---	---
RAB3GAP2	25782	broad.mit.edu	37	1	220359061	220359061	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:220359061C>T	ENST00000358951.2	-	18	1918	c.1802G>A	c.(1801-1803)aGt>aAt	p.S601N		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	601					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)	p.S601N(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TAAACGTTCACTTGCCAAAAT	0.328																																						uc010puk.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1801-1803)AGT>AAT		rab3 GTPase-activating protein, non-catalytic							87.0	85.0	86.0					1																	220359061		2202	4299	6501	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220359061C>T	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.1802G>A	1.37:g.220359061C>T	ENSP00000351832:p.Ser601Asn					RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.S181N	p.S601N	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	18	1966	-			601					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.1802G>A	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701140	0.30142	.	.	ENSG00000118873	ENST00000358951	T	0.31510	1.49	5.75	4.84	0.62591	.	0.161033	0.64402	N	0.000002	T	0.14270	0.0345	N	0.04636	-0.2	0.39226	D	0.963597	B	0.06786	0.001	B	0.06405	0.002	T	0.10941	-1.0608	10	0.21540	T	0.41	.	11.0948	0.48137	0.0:0.8021:0.1288:0.0691	.	601	Q9H2M9	RBGPR_HUMAN	N	601	ENSP00000351832:S601N	ENSP00000351832:S601N	S	-	2	0	RAB3GAP2	218425684	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	3.025000	0.49681	1.428000	0.47296	0.650000	0.86243	AGT		PASS	0.328	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		16	24	16	24	---	---	---	---
KCNK1	3775	broad.mit.edu	37	1	233802474	233802474	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:233802474G>T	ENST00000366621.3	+	2	657	c.489G>T	c.(487-489)agG>agT	p.R163S	KCNK1_ENST00000366620.1_Missense_Mutation_p.R47S|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	163					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)	p.R163S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	TCACCCGCAGGCCGGTCCTCT	0.592																																						uc010pxo.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(487-489)AGG>AGT		potassium channel, subfamily K, member 1	Ibutilide(DB00308)|Quinidine(DB00908)						149.0	108.0	122.0					1																	233802474		2203	4300	6503	SO:0001583	missense	3775					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr1:233802474G>T	U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.489G>T	1.37:g.233802474G>T	ENSP00000355580:p.Arg163Ser					KCNK1_uc001hvw.2_RNA|KCNK1_uc001hvx.2_RNA	p.R163S	NM_002245	NP_002236	O00180	KCNK1_HUMAN			2	657	+		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)	163			Cytoplasmic (Potential).		Q13307|Q5T5E8	Missense_Mutation	SNP	ENST00000366621.3	37	c.489G>T	CCDS1599.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860427	0.71834	.	.	ENSG00000135750	ENST00000366621;ENST00000366620;ENST00000446915	T;D;D	0.98777	1.81;-5.13;-5.13	5.91	3.92	0.45320	.	0.000000	0.85682	D	0.000000	D	0.98327	0.9445	M	0.66939	2.045	0.58432	D	0.999998	D	0.76494	0.999	D	0.80764	0.994	D	0.96343	0.9252	10	0.22109	T	0.4	.	5.4368	0.16486	0.2078:0.1652:0.627:0.0	.	163	O00180	KCNK1_HUMAN	S	163;47;81	ENSP00000355580:R163S;ENSP00000355579:R47S;ENSP00000409626:R81S	ENSP00000355579:R47S	R	+	3	2	KCNK1	231869097	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	2.015000	0.40961	0.676000	0.31285	0.655000	0.94253	AGG		PASS	0.592	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092565.1	NM_002245		23	25	23	25	---	---	---	---
LYST	1130	broad.mit.edu	37	1	235969140	235969140	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:235969140G>T	ENST00000389794.3	-	6	3470	c.3296C>A	c.(3295-3297)tCa>tAa	p.S1099*	LYST_ENST00000536965.1_Nonsense_Mutation_p.S1099*|LYST_ENST00000389793.2_Nonsense_Mutation_p.S1099*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1099					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.S1099*(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ACTTTGAAGTGAGGTCTCACT	0.423																																						uc001hxj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|breast(4)|central_nervous_system(2)	12						c.(3295-3297)TCA>TAA		lysosomal trafficking regulator							83.0	81.0	82.0					1																	235969140		2203	4300	6503	SO:0001587	stop_gained	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235969140G>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.3296C>A	1.37:g.235969140G>T	ENSP00000374444:p.Ser1099*					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Nonsense_Mutation_p.S1099*	p.S1099*	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		6	3471	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1099					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Nonsense_Mutation	SNP	ENST00000389794.3	37	c.3296C>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	43	10.050059	0.99325	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	.	.	.	5.65	1.53	0.23141	.	0.705516	0.14395	N	0.322280	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	5.5078	0.16864	0.2292:0.2636:0.5072:0.0	.	.	.	.	X	1099	.	ENSP00000374443:S1099X	S	-	2	0	LYST	234035763	0.049000	0.20398	0.032000	0.17829	0.885000	0.51271	1.587000	0.36622	0.021000	0.15133	0.563000	0.77884	TCA		PASS	0.423	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			6	44	6	44	---	---	---	---
RGS7	6000	broad.mit.edu	37	1	240977014	240977014	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:240977014G>A	ENST00000407727.1	-	12	859	c.860C>T	c.(859-861)aCg>aTg	p.T287M	RGS7_ENST00000366564.1_Missense_Mutation_p.T287M|RGS7_ENST00000401882.1_Missense_Mutation_p.T234M|RGS7_ENST00000366562.4_Missense_Mutation_p.T287M|RGS7_ENST00000366563.1_Missense_Mutation_p.T287M|RGS7_ENST00000331110.7_Missense_Mutation_p.T261M|RGS7_ENST00000446183.2_Missense_Mutation_p.T203M|RGS7_ENST00000348120.2_Missense_Mutation_p.T234M|RGS7_ENST00000366565.1_Missense_Mutation_p.T287M			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	287	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.T287M(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			ATACTGTTCCGTGTAACTTAG	0.428																																						uc001hyv.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|kidney(1)	7						c.(859-861)ACG>ATG		regulator of G-protein signaling 7							97.0	94.0	95.0					1																	240977014		2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240977014G>A	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.860C>T	1.37:g.240977014G>A	ENSP00000384428:p.Thr287Met					RGS7_uc010pyh.1_Missense_Mutation_p.T261M|RGS7_uc010pyj.1_Missense_Mutation_p.T203M|RGS7_uc001hyu.2_Missense_Mutation_p.T287M|RGS7_uc009xgn.1_Missense_Mutation_p.T234M|RGS7_uc001hyw.2_Missense_Mutation_p.T287M|RGS7_uc001hyt.2_Missense_Mutation_p.T119M	p.T287M	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		13	1190	-		all_cancers(173;0.0131)	287			G protein gamma.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.860C>T		.	.	.	.	.	.	.	.	.	.	G	19.76	3.888344	0.72524	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75	5.76	5.76	0.90799	G-protein gamma domain (4);	0.000000	0.85682	D	0.000000	T	0.50257	0.1605	M	0.67953	2.075	0.43304	D	0.995302	D;D;D;D;D;D;D	0.89917	0.991;0.999;0.999;0.976;0.999;0.98;1.0	P;D;D;P;D;P;D	0.70016	0.871;0.937;0.954;0.616;0.944;0.707;0.967	T	0.30001	-0.9993	10	0.35671	T	0.21	-23.3364	18.9557	0.92658	0.0:0.0:1.0:0.0	.	203;261;234;287;287;287;287	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	M	261;287;287;287;118;234;203;287;287;234	ENSP00000331485:T261M;ENSP00000355523:T287M;ENSP00000355522:T287M;ENSP00000355521:T287M;ENSP00000404399:T118M;ENSP00000341242:T234M;ENSP00000390138:T203M;ENSP00000355520:T287M;ENSP00000384428:T287M;ENSP00000385508:T234M	ENSP00000331485:T261M	T	-	2	0	RGS7	239043637	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	5.544000	0.67231	2.709000	0.92574	0.655000	0.94253	ACG		PASS	0.428	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		8	23	8	23	---	---	---	---
OPN3	23596	broad.mit.edu	37	1	241753535	241753535	+	IGR	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:241753535G>T	ENST00000366554.2	-	0	2620				KMO_ENST00000366558.3_Missense_Mutation_p.E397D|KMO_ENST00000366559.4_Missense_Mutation_p.E410D|KMO_ENST00000366557.4_Missense_Mutation_p.E376D	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3						detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.E410D(1)		endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GATACCATGAGGCTGTGCAGC	0.318																																						uc009xgp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1228-1230)GAG>GAT		kynurenine 3-monooxygenase							112.0	114.0	114.0					1																	241753535		2203	4300	6503	SO:0001628	intergenic_variant	8564				pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity	g.chr1:241753535G>T	AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"""GPCR / Class A : Opsin receptors"""	14007	protein-coding gene	gene with protein product	"""panopsin"", ""protein phosphatase 1, regulatory subunit 116"""	606695	"""encephalopsin"""	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691		1.37:g.241753535G>T						KMO_uc001hyy.2_Missense_Mutation_p.E397D|KMO_uc009xgo.1_Missense_Mutation_p.E410D	p.E410D	NM_003679	NP_003670	O15229	KMO_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0176)		14	1295	+	Ovarian(103;0.103)|all_lung(81;0.23)		410					Q8IX08|Q9Y344	Missense_Mutation	SNP	ENST00000366554.2	37	c.1230G>T	CCDS31072.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.030|8.030	0.761570|0.761570	0.15914|0.15914	.|.	.|.	ENSG00000117009|ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557|ENST00000366555	T;T;T|.	0.52526|.	0.66;0.74;0.74|.	5.47|5.47	-2.25|-2.25	0.06888|0.06888	.|.	0.155508|.	0.56097|.	D|.	0.000031|.	T|T	0.56645|0.56645	0.1999|0.1999	L|L	0.56124|0.56124	1.755|1.755	0.80722|0.80722	D|D	1|1	B;B;B|.	0.26708|.	0.044;0.044;0.157|.	B;B;B|.	0.30029|.	0.025;0.025;0.11|.	T|T	0.53648|0.53648	-0.8409|-0.8409	10|5	0.20046|.	T|.	0.44|.	.|.	10.3042|10.3042	0.43670|0.43670	0.7249:0.0:0.2751:0.0|0.7249:0.0:0.2751:0.0	.|.	410;410;397|.	O15229;A8K693;O15229-2|.	KMO_HUMAN;.;.|.	D|C	410;397;376|96	ENSP00000355517:E410D;ENSP00000355516:E397D;ENSP00000355515:E376D|.	ENSP00000355515:E376D|.	E|G	+|+	3|1	2|0	KMO|KMO	239820158|239820158	0.982000|0.982000	0.34865|0.34865	0.881000|0.881000	0.34555|0.34555	0.033000|0.033000	0.12548|0.12548	0.160000|0.160000	0.16462|0.16462	-0.458000|-0.458000	0.07023|0.07023	-0.136000|-0.136000	0.14681|0.14681	GAG|GGC		PASS	0.318	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322		17	83	17	83	---	---	---	---
WDR64	128025	broad.mit.edu	37	1	241886728	241886728	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:241886728C>A	ENST00000366552.2	+	9	1361	c.1154C>A	c.(1153-1155)tCc>tAc	p.S385Y	WDR64_ENST00000437684.2_Missense_Mutation_p.S385Y	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	385								p.S385Y(1)|p.S105Y(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GTCAGCCTTTCCTCTGCAAAG	0.383																																						uc001hze.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1153-1155)TCC>TAC		RecName: Full=WD repeat-containing protein 64;							74.0	69.0	71.0					1																	241886728		2203	4300	6503	SO:0001583	missense	128025							g.chr1:241886728C>A	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1154C>A	1.37:g.241886728C>A	ENSP00000355510:p.Ser385Tyr					WDR64_uc001hzf.1_Missense_Mutation_p.S105Y	p.S385Y			B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		9	1361	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	385			WD 4.		B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37	c.1154C>A		.	.	.	.	.	.	.	.	.	.	C	16.26	3.071882	0.55646	.	.	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635	T;T;T	0.54071	1.63;0.59;4.51	4.7	4.7	0.59300	.	0.109676	0.41194	D	0.000939	T	0.73860	0.3641	M	0.84082	2.675	0.40372	D	0.979357	D	0.71674	0.998	D	0.80764	0.994	T	0.79577	-0.1746	10	0.87932	D	0	-19.9756	14.9266	0.70884	0.0:1.0:0.0:0.0	.	105	D1MPS4	.	Y	385;385;156	ENSP00000355510:S385Y;ENSP00000402446:S385Y;ENSP00000406656:S156Y	ENSP00000355510:S385Y	S	+	2	0	WDR64	239953351	0.986000	0.35501	0.984000	0.44739	0.619000	0.37552	4.370000	0.59517	2.308000	0.77769	0.563000	0.77884	TCC		PASS	0.383	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		11	31	11	31	---	---	---	---
SCCPDH	51097	broad.mit.edu	37	1	246890254	246890254	+	Missense_Mutation	SNP	C	C	T	rs202160032		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:246890254C>T	ENST00000366510.3	+	2	627	c.251C>T	c.(250-252)tCg>tTg	p.S84L		NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)	84						lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)	p.S84L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		AATCCAGCCTCGCTTGATGAA	0.383																																						uc001ibr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(250-252)TCG>TTG		saccharopine dehydrogenase (putative)							138.0	119.0	125.0					1																	246890254		2203	4300	6503	SO:0001583	missense	51097					midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity	g.chr1:246890254C>T		CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.251C>T	1.37:g.246890254C>T	ENSP00000355467:p.Ser84Leu						p.S84L	NM_016002	NP_057086	Q8NBX0	SCPDH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)	2	598	+	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	84					Q8TAR0|Q9Y363	Missense_Mutation	SNP	ENST00000366510.3	37	c.251C>T	CCDS31084.1	.	.	.	.	.	.	.	.	.	.	C	32	5.150028	0.94645	.	.	ENSG00000143653	ENST00000366510	T	0.48201	0.82	6.17	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.76933	0.4057	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.82723	-0.0316	10	0.87932	D	0	.	15.6661	0.77230	0.0:0.933:0.0:0.0669	.	84	Q8NBX0	SCPDL_HUMAN	L	84	ENSP00000355467:S84L	ENSP00000355467:S84L	S	+	2	0	SCCPDH	244956877	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.207000	0.65197	2.941000	0.99782	0.655000	0.94253	TCG		PASS	0.383	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096902.2	NM_016002		18	48	18	48	---	---	---	---
VN1R5	317705	broad.mit.edu	37	1	247419455	247419455	+	IGR	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:247419455C>A								RP11-488L18.8 (14330 upstream) : Y_RNA (38681 downstream)																							CACAGATATCCTTTGCTTTAA	0.328																																						uc010pyu.1																			0					0						c.(82-84)CTT>ATT		vomeronasal 1 receptor 5							101.0	102.0	102.0					1																	247419455		1823	4087	5910	SO:0001628	intergenic_variant	317705				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr1:247419455C>A																													1.37:g.247419455C>A							p.L28I	NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00854)		1	82	+	all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	28			Cytoplasmic (Potential).			Missense_Mutation	SNP		37	c.82C>A																																																																																				0	PASS	0.328									23	74	23	74	---	---	---	---
OR2M5	127059	broad.mit.edu	37	1	248309295	248309295	+	Silent	SNP	T	T	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:248309295T>C	ENST00000366476.1	+	1	846	c.846T>C	c.(844-846)acT>acC	p.T282T		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T282T(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CCATCCTCACTCCCATGCTGA	0.502																																						uc010pze.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(1)	3						c.(844-846)ACT>ACC		olfactory receptor, family 2, subfamily M,							114.0	103.0	106.0					1																	248309295		2203	4300	6503	SO:0001819	synonymous_variant	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248309295T>C		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.846T>C	1.37:g.248309295T>C							p.T282T	NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	846	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		282			Helical; Name=7; (Potential).			Silent	SNP	ENST00000366476.1	37	c.846T>C	CCDS31105.1																																																																																				PASS	0.502	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		39	39	39	39	---	---	---	---
OR2M3	127062	broad.mit.edu	37	1	248366447	248366447	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:248366447C>A	ENST00000456743.1	+	1	116	c.78C>A	c.(76-78)ttC>ttA	p.F26L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F26L(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCCACACCTTCCTCTTCTTTC	0.507																																						uc010pzg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(76-78)TTC>TTA		olfactory receptor, family 2, subfamily M,							204.0	210.0	208.0					1																	248366447		2203	4298	6501	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366447C>A		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.78C>A	1.37:g.248366447C>A	ENSP00000389625:p.Phe26Leu						p.F26L	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	78	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		26			Helical; Name=1; (Potential).		B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.78C>A	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019641	0.35606	.	.	ENSG00000228198	ENST00000456743	T	0.01228	5.14	2.48	1.53	0.23141	.	0.000000	0.33534	U	0.004810	T	0.00724	0.0024	N	0.11892	0.195	0.09310	N	1	B	0.20550	0.046	B	0.24848	0.056	T	0.46205	-0.9208	10	0.07325	T	0.83	.	0.5868	0.00721	0.1921:0.3662:0.1883:0.2534	.	26	Q8NG83	OR2M3_HUMAN	L	26	ENSP00000389625:F26L	ENSP00000389625:F26L	F	+	3	2	OR2M3	246433070	0.000000	0.05858	0.015000	0.15790	0.647000	0.38526	-2.135000	0.01306	0.375000	0.24679	0.184000	0.17185	TTC		PASS	0.507	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		65	104	65	104	---	---	---	---
FKBP1B	2281	broad.mit.edu	37	2	24276774	24276774	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:24276774A>G	ENST00000380986.4	+	2	176	c.40A>G	c.(40-42)Agg>Ggg	p.R14G	FKBP1B_ENST00000452109.1_5'UTR|FKBP1B_ENST00000380991.4_Missense_Mutation_p.R14G	NM_004116.3|NM_054033.2	NP_004107.1|NP_473374.1	P68106	FKB1B_HUMAN	FK506 binding protein 1B, 12.6 kDa	14					'de novo' protein folding (GO:0006458)|calcium ion transmembrane transport (GO:0070588)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|chaperone-mediated protein folding (GO:0061077)|cytosolic calcium ion homeostasis (GO:0051480)|insulin secretion (GO:0030073)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neuronal action potential propagation (GO:0019227)|positive regulation of axon regeneration (GO:0048680)|positive regulation of sequestering of calcium ion (GO:0051284)|protein maturation by protein folding (GO:0022417)|protein peptidyl-prolyl isomerization (GO:0000413)|protein refolding (GO:0042026)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to redox state (GO:0051775)|response to vitamin E (GO:0033197)|smooth muscle contraction (GO:0006939)|T cell proliferation (GO:0042098)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium channel inhibitor activity (GO:0019855)|cyclic nucleotide binding (GO:0030551)|FK506 binding (GO:0005528)|ion channel binding (GO:0044325)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|receptor binding (GO:0005102)	p.R14G(2)		lung(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCTGCAGGAAGGACATTCCC	0.557																																						uc002rer.2																			2	Substitution - Missense(2)		lung(2)		0						c.(40-42)AGG>GGG		FK506 binding protein 1B, 12.6 kDa isoform a							145.0	146.0	146.0					2																	24276774		2203	4300	6503	SO:0001583	missense	2281				'de novo' protein folding|negative regulation of heart rate|negative regulation of protein phosphatase type 2B activity|protein maturation by protein folding|protein refolding|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|regulation of ryanodine-sensitive calcium-release channel activity|response to redox state	calcium channel complex|sarcoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor binding	g.chr2:24276774A>G	D38037	CCDS1706.1, CCDS33153.1	2p23.3	2013-03-20	2002-08-29		ENSG00000119782	ENSG00000119782			3712	protein-coding gene	gene with protein product	"""calstabin 2"""	600620	"""FK506-binding protein 1B (12.6 kD)"""	FKBP1L		7513996	Standard	NM_004116		Approved	OTK4, FKBP12.6, PPIase, FKBP9	uc002rer.3	P68106	OTTHUMG00000151889	ENST00000380986.4:c.40A>G	2.37:g.24276774A>G	ENSP00000370373:p.Arg14Gly					FKBP1B_uc002res.2_Missense_Mutation_p.R14G|FKBP1B_uc002ret.2_RNA|FKBP1B_uc002reu.2_RNA	p.R14G	NM_004116	NP_004107	P68106	FKB1B_HUMAN			2	176	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		14					Q13664|Q16645|Q53TM2|Q9BQ40	Missense_Mutation	SNP	ENST00000380986.4	37	c.40A>G	CCDS1706.1	.	.	.	.	.	.	.	.	.	.	A	14.88	2.667634	0.47677	.	.	ENSG00000119782	ENST00000380991;ENST00000380986	D;D	0.86030	-2.06;-2.06	4.9	4.9	0.64082	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (1);	0.000000	0.85682	D	0.000000	T	0.67144	0.2862	N	0.04508	-0.205	0.80722	D	1	B;B	0.11235	0.004;0.001	B;B	0.12156	0.007;0.003	T	0.62695	-0.6800	10	0.23302	T	0.38	4.4406	9.5589	0.39357	0.7188:0.2812:0.0:0.0	.	14;14	P68106-2;P68106	.;FKB1B_HUMAN	G	14	ENSP00000370379:R14G;ENSP00000370373:R14G	ENSP00000370373:R14G	R	+	1	2	FKBP1B	24130278	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.288000	0.51739	2.193000	0.70182	0.459000	0.35465	AGG		PASS	0.557	FKBP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207622.1	NM_004116		19	89	19	89	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26717816	26717816	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:26717816G>C	ENST00000272371.2	-	9	1017	c.891C>G	c.(889-891)taC>taG	p.Y297*	OTOF_ENST00000403946.3_Nonsense_Mutation_p.Y297*	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	297	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.Y297*(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACCTCGTTGTAATAGGGGC	0.572																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(889-891)TAC>TAG		otoferlin isoform a							113.0	97.0	103.0					2																	26717816		2203	4300	6503	SO:0001587	stop_gained	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26717816G>C	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.891C>G	2.37:g.26717816G>C	ENSP00000272371:p.Tyr297*						p.Y297*	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			9	1018	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		297			Cytoplasmic (Potential).|C2 1.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Nonsense_Mutation	SNP	ENST00000272371.2	37	c.891C>G	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	37	6.482148	0.97603	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	.	.	.	5.83	2.03	0.26663	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.5565	9.8408	0.40998	0.2848:0.0:0.7152:0.0	.	.	.	.	X	297	.	ENSP00000272371:Y297X	Y	-	3	2	OTOF	26571320	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	2.381000	0.44336	0.385000	0.24970	0.655000	0.94253	TAC		PASS	0.572	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			21	51	21	51	---	---	---	---
C2orf16	84226	broad.mit.edu	37	2	27800102	27800102	+	Silent	SNP	A	A	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:27800102A>G	ENST00000408964.2	+	1	714	c.663A>G	c.(661-663)ttA>ttG	p.L221L		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	221						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.L221L(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAAAATTCTTAGGATTAACTC	0.443																																						uc002rkz.3																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)	1						c.(661-663)TTA>TTG		hypothetical protein LOC84226							53.0	49.0	50.0					2																	27800102		1867	4101	5968	SO:0001819	synonymous_variant	84226							g.chr2:27800102A>G	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.663A>G	2.37:g.27800102A>G							p.L221L	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	714	+	Acute lymphoblastic leukemia(172;0.155)		221					B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	c.663A>G	CCDS42666.1																																																																																				PASS	0.443	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		11	47	11	47	---	---	---	---
GALNT14	79623	broad.mit.edu	37	2	31133823	31133823	+	Missense_Mutation	SNP	C	C	T	rs202186542		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:31133823C>T	ENST00000349752.5	-	15	2242	c.1603G>A	c.(1603-1605)Gtc>Atc	p.V535I	GALNT14_ENST00000420311.2_Missense_Mutation_p.V500I|GALNT14_ENST00000356174.3_Missense_Mutation_p.V502I|GALNT14_ENST00000406653.1_Missense_Mutation_p.V515I|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000324589.5_Missense_Mutation_p.V540I	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	535	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.V535I(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CATGGGTTGACGACGATTTCC	0.562																																						uc002rnr.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|skin(1)	3						c.(1603-1605)GTC>ATC		N-acetylgalactosaminyltransferase 14							184.0	145.0	158.0					2																	31133823		2203	4300	6503	SO:0001583	missense	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31133823C>T	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.1603G>A	2.37:g.31133823C>T	ENSP00000288988:p.Val535Ile					GALNT14_uc002rnq.2_Missense_Mutation_p.V515I|GALNT14_uc002rns.2_Missense_Mutation_p.V540I|GALNT14_uc010ymr.1_Missense_Mutation_p.V500I	p.V535I	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN			15	2222	-	Acute lymphoblastic leukemia(172;0.155)		535			Lumenal (Potential).|Ricin B-type lectin.		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	c.1603G>A	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	C	0.287	-0.982629	0.02180	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311	T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66	5.26	-0.388	0.12459	Ricin B-related lectin (1);Ricin B lectin (3);	0.246724	0.39407	N	0.001380	T	0.14485	0.0350	N	0.11789	0.175	0.21105	N	0.999782	B;B;B;B	0.10296	0.0;0.003;0.0;0.001	B;B;B;B	0.08055	0.001;0.002;0.002;0.003	T	0.20538	-1.0272	10	0.30854	T	0.27	.	9.6284	0.39765	0.0:0.4416:0.0:0.5584	.	500;540;535;515	F5H263;Q96FL9-3;Q96FL9;B3KV89	.;.;GLT14_HUMAN;.	I	535;540;515;502;500	ENSP00000288988:V535I;ENSP00000314500:V540I;ENSP00000385435:V515I;ENSP00000348497:V502I;ENSP00000415514:V500I	ENSP00000314500:V540I	V	-	1	0	GALNT14	30987327	0.385000	0.25172	0.115000	0.21578	0.024000	0.10985	0.565000	0.23578	-0.012000	0.14223	-0.150000	0.13652	GTC		PASS	0.562	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		17	84	17	84	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32774511	32774511	+	Silent	SNP	C	C	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:32774511C>G	ENST00000421745.2	+	65	13241	c.13107C>G	c.(13105-13107)ctC>ctG	p.L4369L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4369					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.L4341L(1)|p.L4369L(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGTCCTGCCTCATCCCAGCCA	0.418																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(13105-13107)CTC>CTG		baculoviral IAP repeat-containing 6							130.0	121.0	124.0					2																	32774511		2203	4300	6503	SO:0001819	synonymous_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32774511C>G	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.13107C>G	2.37:g.32774511C>G							p.L4369L	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			65	13241	+	Acute lymphoblastic leukemia(172;0.155)		4369					Q9ULD1	Silent	SNP	ENST00000421745.2	37	c.13107C>G	CCDS33175.2																																																																																				PASS	0.418	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		21	69	21	69	---	---	---	---
THADA	63892	broad.mit.edu	37	2	43520275	43520275	+	Missense_Mutation	SNP	C	C	A	rs199689117		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:43520275C>A	ENST00000405006.4	-	32	4867	c.4516G>T	c.(4516-4518)Gcc>Tcc	p.A1506S	THADA_ENST00000330266.7_Intron|THADA_ENST00000415080.2_Missense_Mutation_p.A1187S|THADA_ENST00000405975.2_Missense_Mutation_p.A1506S	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1506								p.A1506S(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ACCTTGAAGGCCCAAGGGAAT	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17567	0.0		0.0	False		,,,				2504	0.0					uc002rsw.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(4516-4518)GCC>TCC		thyroid adenoma associated							52.0	57.0	56.0					2																	43520275		1950	4142	6092	SO:0001583	missense	63892						binding	g.chr2:43520275C>A	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.4516G>T	2.37:g.43520275C>A	ENSP00000385995:p.Ala1506Ser					THADA_uc010far.2_Missense_Mutation_p.A701S|THADA_uc002rsx.3_Missense_Mutation_p.A1506S|THADA_uc002rsy.3_RNA	p.A1506S	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN			32	4868	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1506					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.4516G>T	CCDS46268.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	2.201	-0.382905	0.04966	.	.	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	T;T;T	0.10960	3.0;2.82;3.0	5.46	0.0906	0.14464	.	0.660669	0.15378	N	0.265474	T	0.03827	0.0108	N	0.14661	0.345	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.11329	0.006;0.003	T	0.41142	-0.9525	10	0.07325	T	0.83	-19.2162	0.82	0.01109	0.2084:0.1741:0.1313:0.4862	.	1433;1506	B6ZDQ0;Q6YHU6	.;THADA_HUMAN	S	1506;1433;1187;1506	ENSP00000386088:A1506S;ENSP00000416048:A1187S;ENSP00000385995:A1506S	ENSP00000349464:A1433S	A	-	1	0	THADA	43373779	0.980000	0.34600	0.910000	0.35882	0.006000	0.05464	1.025000	0.30090	0.134000	0.18681	-1.078000	0.02229	GCC		PASS	0.557	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		20	60	20	60	---	---	---	---
GTF2A1L	11036	broad.mit.edu	37	2	48873715	48873715	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:48873715G>C	ENST00000403751.3	+	6	549	c.512G>C	c.(511-513)aGt>aCt	p.S171T	STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.S875T|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.S875T|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.S828T|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.S875T|LHCGR_ENST00000420913.3_5'UTR|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.S137T|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.S875T	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	171					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.S875T(1)		lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATACAAACTAGTGTTCCACAA	0.433																																						uc010yol.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(2482-2484)AGT>ACT		stonin 1							98.0	97.0	97.0					2																	48873715		2203	4300	6503	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48873715G>C	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.512G>C	2.37:g.48873715G>C	ENSP00000384597:p.Ser171Thr					STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.S875T|GTF2A1L_uc002rws.1_Missense_Mutation_p.S171T|GTF2A1L_uc010yom.1_Missense_Mutation_p.S137T|GTF2A1L_uc002rwt.2_Missense_Mutation_p.S171T	p.S828T	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		5	2530	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	828					B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	c.2483G>C	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	G	3.847	-0.032674	0.07543	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000448460;ENST00000437125;ENST00000430487;ENST00000403751	T;T;T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.29	-1.24	0.09435	.	0.798569	0.11657	N	0.542181	T	0.22085	0.0532	N	0.17474	0.49	0.09310	N	1	B;B;B;B;B	0.24426	0.084;0.0;0.004;0.103;0.0	B;B;B;B;B	0.23574	0.022;0.001;0.012;0.047;0.002	T	0.16129	-1.0413	10	0.38643	T	0.18	.	4.6717	0.12692	0.1499:0.4897:0.2415:0.119	.	137;828;875;171;875	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	T	875;875;875;875;828;170;137;180;137;171	ENSP00000385499:S875T;ENSP00000385701:S875T;ENSP00000378236:S875T;ENSP00000311493:S875T;ENSP00000378234:S828T;ENSP00000412645:S137T;ENSP00000396702:S180T;ENSP00000387896:S137T;ENSP00000384597:S171T	ENSP00000384597:S171T	S	+	2	0	STON1-GTF2A1L;GTF2A1L	48727219	0.013000	0.17824	0.000000	0.03702	0.082000	0.17680	0.314000	0.19432	-0.435000	0.07264	-1.054000	0.02325	AGT		PASS	0.433	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		53	34	53	34	---	---	---	---
GPR75	10936	broad.mit.edu	37	2	54081850	54081850	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:54081850G>T	ENST00000394705.2	-	2	314	c.44C>A	c.(43-45)tCg>tAg	p.S15*	ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	15					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)	p.S15*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CACATGGAGCGAGGTGGCATT	0.522																																						uc002rxo.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(43-45)TCG>TAG		G protein-coupled receptor 75							125.0	119.0	121.0					2																	54081850		2203	4300	6503	SO:0001587	stop_gained	10936					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:54081850G>T	AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.44C>A	2.37:g.54081850G>T	ENSP00000378195:p.Ser15*					ASB3_uc002rxi.3_Intron	p.S15*	NM_006794	NP_006785	O95800	GPR75_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		2	315	-			15			Extracellular (Potential).		B2RC02|Q6NWR2	Nonsense_Mutation	SNP	ENST00000394705.2	37	c.44C>A	CCDS1849.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032469	0.54790	.	.	ENSG00000119737	ENST00000394705	.	.	.	5.54	-10.5	0.00291	.	0.477092	0.18497	N	0.139476	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-0.145	9.9722	0.41761	0.1561:0.4024:0.4415:0.0	.	.	.	.	X	15	.	ENSP00000378195:S15X	S	-	2	0	GPR75	53935354	0.000000	0.05858	0.000000	0.03702	0.835000	0.47333	-0.787000	0.04618	-1.866000	0.01145	0.561000	0.74099	TCG		PASS	0.522	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2			5	149	5	149	---	---	---	---
BCL11A	53335	broad.mit.edu	37	2	60687618	60687618	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:60687618C>A	ENST00000335712.6	-	4	2656	c.2429G>T	c.(2428-2430)aGc>aTc	p.S810I	BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.S776I|BCL11A_ENST00000538214.1_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	810					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)	p.S810I(1)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			ACTGTACACGCTAAAAGGCAT	0.428			T	IGH@	B-CLL																																	uc002sae.1				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		1	Substitution - Missense(1)		lung(1)	central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(2428-2430)AGC>ATC		B-cell CLL/lymphoma 11A isoform 1							123.0	120.0	121.0					2																	60687618		2203	4300	6503	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60687618C>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.2429G>T	2.37:g.60687618C>A	ENSP00000338774:p.Ser810Ile					BCL11A_uc002sab.2_Intron|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Intron|BCL11A_uc002sad.1_Missense_Mutation_p.S658I|BCL11A_uc002saf.1_Missense_Mutation_p.S776I	p.S810I	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	2657	-			810			C2H2-type 6.		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.2429G>T	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104422	0.56291	.	.	ENSG00000119866	ENST00000335712;ENST00000358510	T;T	0.56103	0.48;0.48	6.03	6.03	0.97812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.104673	0.64402	D	0.000007	T	0.72550	0.3474	M	0.62154	1.92	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.91635	0.81;0.999	T	0.70648	-0.4814	10	0.54805	T	0.06	-2.4781	20.5666	0.99351	0.0:1.0:0.0:0.0	.	776;810	Q9H165-6;Q9H165	.;BC11A_HUMAN	I	810;776	ENSP00000338774:S810I;ENSP00000351307:S776I	ENSP00000338774:S810I	S	-	2	0	BCL11A	60541122	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.854000	0.98071	0.655000	0.94253	AGC		PASS	0.428	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		221	58	221	58	---	---	---	---
KIAA1841	84542	broad.mit.edu	37	2	61298890	61298890	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:61298890G>T	ENST00000402291.1	+	4	541	c.300G>T	c.(298-300)caG>caT	p.Q100H	KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000295031.5_Missense_Mutation_p.Q100H|KIAA1841_ENST00000356719.2_Missense_Mutation_p.Q100H|KIAA1841_ENST00000453873.1_Missense_Mutation_p.Q100H	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	100								p.Q100H(2)		breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GAGAATTTCAGGAGACTCCAG	0.363																																						uc002saw.3																			2	Substitution - Missense(2)		lung(2)		0						c.(298-300)CAG>CAT		KIAA1841 protein isoform a							70.0	74.0	73.0					2																	61298890		2203	4300	6503	SO:0001583	missense	84542							g.chr2:61298890G>T	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.300G>T	2.37:g.61298890G>T	ENSP00000385579:p.Gln100His					KIAA1841_uc002sax.3_Translation_Start_Site|KIAA1841_uc002say.2_Missense_Mutation_p.Q100H|KIAA1841_uc002sav.3_Missense_Mutation_p.Q100H	p.Q100H	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		4	603	+			100					Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	37	c.300G>T	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854990	0.51376	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	.	.	.	5.5	1.64	0.23874	.	0.187277	0.46758	D	0.000271	T	0.29061	0.0722	N	0.24115	0.695	0.28451	N	0.916354	P;P;P	0.48503	0.911;0.855;0.911	P;B;P	0.47941	0.562;0.359;0.562	T	0.13872	-1.0493	9	0.56958	D	0.05	-6.5581	10.1902	0.43021	0.476:0.0:0.524:0.0	.	100;100;100	Q6NSI8-2;Q6NSI8;Q6NSI8-4	.;K1841_HUMAN;.	H	100	.	ENSP00000295031:Q100H	Q	+	3	2	KIAA1841	61152394	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	0.586000	0.23894	0.290000	0.22444	0.655000	0.94253	CAG		PASS	0.363	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		7	200	7	200	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61597467	61597467	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:61597467C>A	ENST00000398571.2	-	10	1316	c.1240G>T	c.(1240-1242)Gct>Tct	p.A414S		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	414					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.A414S(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGTGCTGCAGCCCAAATACAG	0.358																																						uc002sbe.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(1240-1242)GCT>TCT		ubiquitin specific protease 34							106.0	99.0	101.0					2																	61597467		1887	4123	6010	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61597467C>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.1240G>T	2.37:g.61597467C>A	ENSP00000381577:p.Ala414Ser						p.A414S	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		10	1262	-			414					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.1240G>T	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116542	0.77323	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.14391	2.51	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.17874	0.0429	L	0.53249	1.67	0.58432	D	0.999997	P	0.47762	0.9	B	0.40636	0.335	T	0.01541	-1.1329	10	0.33940	T	0.23	.	19.3608	0.94436	0.0:1.0:0.0:0.0	.	414	Q70CQ2	UBP34_HUMAN	S	262;262;414	ENSP00000381577:A414S	ENSP00000263989:A262S	A	-	1	0	USP34	61450971	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.086000	0.71352	2.566000	0.86566	0.650000	0.86243	GCT		PASS	0.358	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			51	514	51	514	---	---	---	---
NAGK	55577	broad.mit.edu	37	2	71300618	71300618	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:71300618G>T	ENST00000244204.6	+	6	535	c.473G>T	c.(472-474)tGg>tTg	p.W158L	NAGK_ENST00000443872.2_Missense_Mutation_p.W10L|NAGK_ENST00000455662.2_Missense_Mutation_p.W204L|NAGK_ENST00000418807.3_Missense_Mutation_p.W107L|NAGK_ENST00000443938.2_Missense_Mutation_p.W158L			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	158					carbohydrate phosphorylation (GO:0046835)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|N-acetylglucosamine kinase activity (GO:0045127)	p.W158L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	GCAGCCTACTGGATCGCACAC	0.512																																						uc002shp.3																			1	Substitution - Missense(1)		lung(1)		0						c.(472-474)TGG>TTG		N-Acetylglucosamine kinase	N-Acetyl-D-glucosamine(DB00141)						302.0	293.0	296.0					2																	71300618		2203	4300	6503	SO:0001583	missense	55577				N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding	g.chr2:71300618G>T	AJ242910	CCDS33220.1, CCDS33220.2	2p24.3-p24.1	2008-02-05			ENSG00000124357	ENSG00000124357	2.7.1.59		17174	protein-coding gene	gene with protein product		606828				10824116	Standard	NM_017567		Approved	GNK	uc002shp.4	Q9UJ70	OTTHUMG00000153239	ENST00000244204.6:c.473G>T	2.37:g.71300618G>T	ENSP00000244204:p.Trp158Leu					NAGK_uc010fea.2_RNA|NAGK_uc002shq.3_Missense_Mutation_p.W9L|NAGK_uc002shr.2_Missense_Mutation_p.W107L	p.W158L	NM_017567	NP_060037	Q9UJ70	NAGK_HUMAN			6	879	+			158					B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37	Missense_Mutation	SNP	ENST00000244204.6	37	c.473G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.927133|4.927133	0.92389|0.92389	.|.	.|.	ENSG00000124357|ENSG00000124357	ENST00000443938|ENST00000244204;ENST00000455662;ENST00000531934;ENST00000418807;ENST00000529236	.|T;T;T;T;T	.|0.31247	.|1.5;1.5;1.5;1.5;1.5	5.76|5.76	5.76|5.76	0.90799|0.90799	.|ATPase, BadF/BadG/BcrA/BcrD type (1);	.|0.117014	.|0.64402	.|D	.|0.000006	.|T	.|0.59266	.|0.2181	M|M	0.86028|0.86028	2.79|2.79	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.74023	.|0.982	.|T	.|0.54944	.|-0.8217	.|10	.|0.23302	.|T	.|0.38	-49.0574|-49.0574	17.8133|17.8133	0.88623|0.88623	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|158	.|Q9UJ70	.|NAGK_HUMAN	X|L	180|158;204;10;107;52	.|ENSP00000244204:W158L;ENSP00000389087:W204L;ENSP00000436326:W10L;ENSP00000396070:W107L;ENSP00000431204:W52L	.|ENSP00000244204:W158L	G|W	+|+	1|2	0|0	NAGK|NAGK	71154126|71154126	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	8.575000|8.575000	0.90766|0.90766	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GGA|TGG		PASS	0.512	NAGK-032	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471889.1			10	374	10	374	---	---	---	---
SLC4A5	57835	broad.mit.edu	37	2	74482935	74482935	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:74482935A>T	ENST00000377634.4	-	13	1391	c.992T>A	c.(991-993)cTg>cAg	p.L331Q	SLC4A5_ENST00000358683.4_Missense_Mutation_p.L267Q|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_Missense_Mutation_p.L331Q|SLC4A5_ENST00000357822.5_Missense_Mutation_p.L331Q|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.L331Q|SLC4A5_ENST00000423644.1_Missense_Mutation_p.L331Q|SLC4A5_ENST00000346834.4_Missense_Mutation_p.L331Q|SLC4A5_ENST00000359484.4_Missense_Mutation_p.L267Q					solute carrier family 4 (sodium bicarbonate cotransporter), member 5									p.L331Q(2)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CACTCCTCCCAGCATGGCCGA	0.612																																						uc002sko.1																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						c.(991-993)CTG>CAG		sodium bicarbonate transporter 4 isoform a							122.0	99.0	107.0					2																	74482935		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74482935A>T	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.992T>A	2.37:g.74482935A>T	ENSP00000366861:p.Leu331Gln					SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.L331Q|SLC4A5_uc010ffc.1_Missense_Mutation_p.L331Q|SLC4A5_uc002skp.1_Missense_Mutation_p.L267Q|SLC4A5_uc002sks.1_Missense_Mutation_p.L331Q	p.L331Q	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN			8	994	-			331			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000377634.4	37	c.992T>A	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.681044	0.88542	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	D;D;D;D;D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5	5.06	5.06	0.68205	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.64402	D	0.000001	D	0.92443	0.7601	H	0.96015	3.755	0.54753	D	0.99998	D;D;P;D;D	0.89917	0.999;0.989;0.888;0.966;1.0	D;D;D;D;D	0.83275	0.97;0.975;0.924;0.954;0.996	D	0.94305	0.7540	10	0.87932	D	0	.	12.8052	0.57610	1.0:0.0:0.0:0.0	.	331;331;267;331;331	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	Q	331;331;331;267;331;267;331;331;331;331	ENSP00000377587:L331Q;ENSP00000251768:L331Q;ENSP00000352461:L267Q;ENSP00000395804:L331Q;ENSP00000351513:L267Q;ENSP00000350475:L331Q;ENSP00000366859:L331Q;ENSP00000366861:L331Q;ENSP00000405678:L331Q	ENSP00000251768:L331Q	L	-	2	0	SLC4A5	74336443	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.097000	0.94193	2.120000	0.65058	0.533000	0.62120	CTG		PASS	0.612	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			10	19	10	19	---	---	---	---
IGKV3D-15	28875	broad.mit.edu	37	2	90154142	90154142	+	RNA	SNP	G	G	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:90154142G>C	ENST00000417279.2	+	0	278									immunoglobulin kappa variable 3D-15 (gene/pseudogene)																		CAGGGCCACTGGCATCCCAGC	0.557																																						uc010fhm.2																			0													Parts of antibodies, mostly variable regions.							17.0	19.0	19.0					2																	90154142		1840	4068	5908			0							g.chr2:90154142G>C	X72815		2p11.2	2012-02-08	2008-09-12		ENSG00000224041	ENSG00000224041		"""Immunoglobulins / IGK locus"""	5824	other	immunoglobulin gene			"""immunoglobulin kappa variable 3D-15"""				Standard	NG_000833		Approved				OTTHUMG00000151568		2.37:g.90154142G>C														20		+									RNA	SNP	ENST00000417279.2	37	c.2607G>C																																																																																					PASS	0.557	IGKV3D-15-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323143.2	NG_000833		22	35	22	35	---	---	---	---
ARID5A	10865	broad.mit.edu	37	2	97217381	97217381	+	Silent	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:97217381G>A	ENST00000357485.3	+	7	1194	c.1116G>A	c.(1114-1116)ttG>ttA	p.L372L	ARID5A_ENST00000454558.2_Silent_p.L304L	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	372					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.L372L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						GGGTGCTATTGGGGCCTCCTG	0.587																																						uc002swe.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1114-1116)TTG>TTA		AT rich interactive domain 5A							18.0	19.0	18.0					2																	97217381		2203	4299	6502	SO:0001819	synonymous_variant	10865				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	g.chr2:97217381G>A	M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"""-"""	17361	protein-coding gene	gene with protein product	"""modulator recognition factor 1"""	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.1116G>A	2.37:g.97217381G>A						ARID5A_uc010yuq.1_Silent_p.L320L|ARID5A_uc002swf.2_Silent_p.L208L|ARID5A_uc002swg.2_Silent_p.L320L	p.L372L	NM_212481	NP_997646	Q03989	ARI5A_HUMAN			7	1216	+			372					Q6NX37	Silent	SNP	ENST00000357485.3	37	c.1116G>A	CCDS33251.1																																																																																				PASS	0.587	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338888.2	NM_212481		8	9	8	9	---	---	---	---
REV1	51455	broad.mit.edu	37	2	100079080	100079080	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:100079080C>T	ENST00000258428.3	-	3	287	c.59G>A	c.(58-60)gGg>gAg	p.G20E	REV1_ENST00000393445.3_Missense_Mutation_p.G20E	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	20					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)	p.G20E(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGCCATATACCCACCCTAGAA	0.358								Direct reversal of damage																														uc002tad.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(58-60)GGG>GAG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	REV1-like isoform 1							106.0	102.0	103.0					2																	100079080		2203	4300	6503	SO:0001583	missense	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100079080C>T	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.59G>A	2.37:g.100079080C>T	ENSP00000258428:p.Gly20Glu					REV1_uc002tac.2_Missense_Mutation_p.G20E|REV1_uc002tae.1_5'UTR	p.G20E	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN			3	271	-			20					O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	c.59G>A	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078288	0.76528	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.28255	1.62;1.62	5.63	3.85	0.44370	BRCT (1);	0.045869	0.85682	N	0.000000	T	0.32912	0.0845	M	0.75777	2.31	0.58432	D	0.999999	B;P	0.40230	0.39;0.708	B;B	0.36335	0.141;0.222	T	0.17471	-1.0368	10	0.62326	D	0.03	.	11.3892	0.49804	0.0:0.8507:0.0:0.1493	.	20;20	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	E	20	ENSP00000377091:G20E;ENSP00000258428:G20E	ENSP00000258428:G20E	G	-	2	0	REV1	99445512	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.282000	0.51693	0.743000	0.32719	-0.140000	0.14226	GGG		PASS	0.358	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		31	80	31	80	---	---	---	---
MYO7B	4648	broad.mit.edu	37	2	128387373	128387373	+	Missense_Mutation	SNP	C	C	A	rs201869717	byFrequency	TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:128387373C>A	ENST00000409816.2	+	33	4732	c.4700C>A	c.(4699-4701)aCg>aAg	p.T1567K	MYO7B_ENST00000389524.4_Missense_Mutation_p.T1567K|MYO7B_ENST00000409090.1_Missense_Mutation_p.T420K|RP11-286H15.1_ENST00000609697.1_RNA|MYO7B_ENST00000428314.1_Missense_Mutation_p.T1567K			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1567	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.T1567K(1)|p.T1810K(1)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACCATCCCCACGGTCACTAAG	0.647																																						uc002top.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(4699-4701)ACG>AAG		myosin VIIB							52.0	61.0	58.0					2																	128387373		2081	4204	6285	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128387373C>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.4700C>A	2.37:g.128387373C>A	ENSP00000386461:p.Thr1567Lys					MYO7B_uc002tor.1_Missense_Mutation_p.T420K	p.T1567K	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	34	4753	+	Colorectal(110;0.1)		1567			SH3 1.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.4700C>A	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	c	25.7	4.668892	0.88348	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	5.83	5.83	0.93111	Src homology-3 domain (2);	0.114897	0.64402	D	0.000018	D	0.82967	0.5152	M	0.80982	2.52	0.43242	D	0.995152	D	0.67145	0.996	P	0.55824	0.785	D	0.84621	0.0684	10	0.72032	D	0.01	.	20.1152	0.97926	0.0:1.0:0.0:0.0	.	1567	Q6PIF6	MYO7B_HUMAN	K	1567;1567;662;1567;420	ENSP00000374175:T1567K;ENSP00000415090:T1567K;ENSP00000386461:T1567K;ENSP00000386850:T420K	ENSP00000272666:T662K	T	+	2	0	MYO7B	128103843	0.978000	0.34361	0.102000	0.21198	0.900000	0.52787	3.678000	0.54627	2.750000	0.94351	0.655000	0.94253	ACG		PASS	0.647	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		11	34	11	34	---	---	---	---
UBXN4	23190	broad.mit.edu	37	2	136530083	136530083	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:136530083G>C	ENST00000272638.9	+	9	1227	c.916G>C	c.(916-918)Gaa>Caa	p.E306Q	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	306					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E306Q(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						GGCAGAAATGGAAGTCAAGAG	0.443																																						uc002tur.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(916-918)GAA>CAA		UBX domain containing 2							78.0	73.0	75.0					2																	136530083		1874	4122	5996	SO:0001583	missense	23190				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr2:136530083G>C	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.916G>C	2.37:g.136530083G>C	ENSP00000272638:p.Glu306Gln					UBXN4_uc002tus.2_Missense_Mutation_p.E72Q	p.E306Q	NM_014607	NP_055422	Q92575	UBXN4_HUMAN			9	1227	+			306			Cytoplasmic (Potential).		A8K9W4|Q4ZG56|Q8IYM5	Missense_Mutation	SNP	ENST00000272638.9	37	c.916G>C	CCDS42761.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244217	0.79912	.	.	ENSG00000144224	ENST00000272638;ENST00000430594	T	0.13657	2.57	5.8	5.8	0.92144	.	0.101582	0.64402	D	0.000003	T	0.27489	0.0675	L	0.45051	1.395	0.58432	D	0.999998	D	0.71674	0.998	P	0.61940	0.896	T	0.01242	-1.1408	10	0.13853	T	0.58	.	20.0716	0.97726	0.0:0.0:1.0:0.0	.	306	Q92575	UBXN4_HUMAN	Q	306;288	ENSP00000272638:E306Q	ENSP00000272638:E306Q	E	+	1	0	UBXN4	136246553	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.296000	0.89940	2.741000	0.93983	0.585000	0.79938	GAA		PASS	0.443	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607		14	50	14	50	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	138208577	138208577	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:138208577T>A	ENST00000409968.1	+	15	3300	c.3122T>A	c.(3121-3123)cTg>cAg	p.L1041Q	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.L1010Q|THSD7B_ENST00000272643.3_Missense_Mutation_p.L1041Q			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1041	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.L1010Q(1)|p.L1041Q(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGTCCCAAACTGGATCTCAAG	0.373																																						uc002tva.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(3028-3030)CTG>CAG		thrombospondin, type I, domain containing 7B							57.0	52.0	53.0					2																	138208577		1861	4101	5962	SO:0001583	missense	80731							g.chr2:138208577T>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3122T>A	2.37:g.138208577T>A	ENSP00000387145:p.Leu1041Gln					THSD7B_uc010zbj.1_Intron	p.L1010Q	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	14	3029	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.3029T>A		.	.	.	.	.	.	.	.	.	.	T	24.5	4.538489	0.85917	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.61158	0.71;0.13;0.13	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	T	0.68467	0.3004	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62718	-0.6795	10	0.14656	T	0.56	.	16.2813	0.82687	0.0:0.0:0.0:1.0	.	1010	C9JKN6	.	Q	1041;1041;1010	ENSP00000387145:L1041Q;ENSP00000272643:L1041Q;ENSP00000413841:L1010Q	ENSP00000272643:L1041Q	L	+	2	0	THSD7B	137925047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.244000	0.73946	0.533000	0.62120	CTG		PASS	0.373	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		9	11	9	11	---	---	---	---
NXPH2	11249	broad.mit.edu	37	2	139429176	139429176	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:139429176T>A	ENST00000272641.3	-	2	217	c.111A>T	c.(109-111)aaA>aaT	p.K37N		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	37	II.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.K37N(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		CTGGAGCATCTTTGTCTTCCC	0.512																																						uc002tvi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(109-111)AAA>AAT		neurexophilin 2 precursor							77.0	77.0	77.0					2																	139429176		1980	4166	6146	SO:0001583	missense	11249				neuropeptide signaling pathway	extracellular region		g.chr2:139429176T>A	AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.111A>T	2.37:g.139429176T>A	ENSP00000272641:p.Lys37Asn						p.K37N	NM_007226	NP_009157	O95156	NXPH2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.101)	2	111	-			37			II.		B7WP24|Q494R1|Q75QC3	Missense_Mutation	SNP	ENST00000272641.3	37	c.111A>T	CCDS46421.1	.	.	.	.	.	.	.	.	.	.	T	12.22	1.872580	0.33069	.	.	ENSG00000144227	ENST00000272641	.	.	.	6.17	2.56	0.30785	.	0.229031	0.45126	D	0.000388	T	0.24509	0.0594	N	0.19112	0.55	0.29790	N	0.833304	B	0.02656	0.0	B	0.04013	0.001	T	0.17107	-1.0380	8	.	.	.	-8.5823	9.5256	0.39162	0.0:0.2808:0.0:0.7192	.	37	O95156	NXPH2_HUMAN	N	37	.	.	K	-	3	2	NXPH2	139145646	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	0.483000	0.22292	0.214000	0.20742	0.533000	0.62120	AAA		PASS	0.512	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331901.1			22	57	22	57	---	---	---	---
ZEB2	9839	broad.mit.edu	37	2	145161578	145161578	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:145161578C>A	ENST00000558170.2	-	6	1896	c.712G>T	c.(712-714)Gaa>Taa	p.E238*	ZEB2_ENST00000539609.3_Nonsense_Mutation_p.E214*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.E238*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.E238*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	238					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.E238*(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		AAGTTCTCTTCATTCTTCTCG	0.557																																					Melanoma(33;1235 1264 5755 16332)	uc002tvu.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(712-714)GAA>TAA		zinc finger homeobox 1b							240.0	229.0	233.0					2																	145161578		2203	4300	6503	SO:0001587	stop_gained	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145161578C>A	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.712G>T	2.37:g.145161578C>A	ENSP00000454157:p.Glu238*					ZEB2_uc002tvv.2_Nonsense_Mutation_p.E232*|ZEB2_uc010zbm.1_Nonsense_Mutation_p.E209*|ZEB2_uc010fnp.2_Nonsense_Mutation_p.E146*|ZEB2_uc010fnq.1_Nonsense_Mutation_p.E267*	p.E238*	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	6	1192	-			238					A0JP09|B7Z2P2|F5H814|Q9UED1	Nonsense_Mutation	SNP	ENST00000558170.2	37	c.712G>T	CCDS2186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.118711|5.118711	0.94385|0.94385	.|.	.|.	ENSG00000169554|ENSG00000169554	ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861|ENST00000419938	.|.	.|.	.|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.049747|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79811	.|0.4510	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77900	.|-0.2415	.|3	0.66056|.	D|.	0.02|.	-11.8227|-11.8227	19.7329|19.7329	0.96190|0.96190	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	233;214;238;238;238;238|126	.|.	ENSP00000302501:E238X|.	E|M	-|-	1|3	0|0	ZEB2|ZEB2	144878048|144878048	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.993000|0.993000	0.82548|0.82548	7.487000|7.487000	0.81328|0.81328	2.663000|2.663000	0.90544|0.90544	0.655000|0.655000	0.94253|0.94253	GAA|ATG		PASS	0.557	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		9	43	9	43	---	---	---	---
ACVR2A	92	broad.mit.edu	37	2	148602722	148602722	+	Start_Codon_SNP	SNP	A	A	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:148602722A>G	ENST00000241416.7	+	1	637	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	ACVR2A_ENST00000404590.1_Start_Codon_SNP_p.M1V|ACVR2A_ENST00000535787.1_Intron	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	1					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.M1V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		CCTCGGGAAAATGGGAGCTGC	0.592																																						uc002twg.2																			1	Substitution - Missense(1)		lung(1)	stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1)	13						c.(1-3)ATG>GTG		activin A receptor, type IIA precursor							60.0	62.0	61.0					2																	148602722		2203	4300	6503	SO:0001582	initiator_codon_variant	92				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148602722A>G		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1A>G	2.37:g.148602722A>G	ENSP00000241416:p.Met1Val					ACVR2A_uc010zbn.1_Intron|ACVR2A_uc002twh.2_Missense_Mutation_p.M1V	p.M1V	NM_001616	NP_001607	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	2	270	+			1					B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	37	c.1A>G	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	A	18.40	3.616810	0.66672	.	.	ENSG00000121989	ENST00000241416;ENST00000404590	D;D	0.82803	-1.65;-1.65	4.42	4.42	0.53409	.	0.213542	0.39985	N	0.001215	T	0.78149	0.4238	.	.	.	0.80722	D	1	B	0.24576	0.106	B	0.20184	0.028	T	0.77902	-0.2414	9	0.87932	D	0	.	13.517	0.61545	1.0:0.0:0.0:0.0	.	1	P27037	AVR2A_HUMAN	V	1	ENSP00000241416:M1V;ENSP00000384338:M1V	ENSP00000241416:M1V	M	+	1	0	ACVR2A	148319192	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.715000	0.74697	1.843000	0.53566	0.477000	0.44152	ATG		PASS	0.592	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616	Missense_Mutation	16	46	16	46	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152580773	152580773	+	Splice_Site	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:152580773C>A	ENST00000172853.10	-	8	760		c.e8+1		NEB_ENST00000409198.1_Splice_Site|NEB_ENST00000603639.1_Splice_Site|NEB_ENST00000397345.3_Splice_Site|NEB_ENST00000427231.2_Splice_Site|NEB_ENST00000604864.1_Splice_Site			P20929	NEBU_HUMAN	nebulin						muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.?(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAGACCCTTACCTTGCTGAAC	0.458																																						uc010fnx.2																			2	Unknown(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.e8+1		nebulin isoform 3							131.0	139.0	136.0					2																	152580773		1985	4149	6134	SO:0001630	splice_region_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152580773C>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.612+1G>T	2.37:g.152580773C>A							p.K204_splice	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	8	803	-								F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Splice_Site	SNP	ENST00000172853.10	37	c.612_splice		.	.	.	.	.	.	.	.	.	.	C	26.9	4.778257	0.90195	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000439291	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1323	0.98003	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NEB	152289019	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.183000	0.77697	2.857000	0.98124	0.650000	0.86243	.		PASS	0.458	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	Intron	8	24	8	24	---	---	---	---
DPP4	1803	broad.mit.edu	37	2	162865781	162865781	+	Silent	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:162865781C>A	ENST00000360534.3	-	21	2417	c.1857G>T	c.(1855-1857)gtG>gtT	p.V619V	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	619					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.V619V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	GTTTGTTGTCCACAAATCCCA	0.368																																						uc002ubz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1855-1857)GTG>GTT		dipeptidylpeptidase IV	Sitagliptin(DB01261)						149.0	140.0	143.0					2																	162865781		2203	4300	6503	SO:0001819	synonymous_variant	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162865781C>A	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1857G>T	2.37:g.162865781C>A						DPP4_uc010fpb.2_Silent_p.V295V	p.V619V	NM_001935	NP_001926	P27487	DPP4_HUMAN			21	2418	-			619			Extracellular (Potential).		Q53TN1	Silent	SNP	ENST00000360534.3	37	c.1857G>T	CCDS2216.1																																																																																				PASS	0.368	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			5	63	5	63	---	---	---	---
GCA	25801	broad.mit.edu	37	2	163212958	163212958	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:163212958G>T	ENST00000437150.2	+	4	434	c.273G>T	c.(271-273)ttG>ttT	p.L91F	GCA_ENST00000233612.4_Missense_Mutation_p.L72F|GCA_ENST00000473240.1_3'UTR|GCA_ENST00000429691.2_Missense_Mutation_p.L72F	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	91	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				membrane fusion (GO:0061025)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.L91F(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						CCTTCAGTTTGGAAACCTGCA	0.299																																						uc002ucg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(271-273)TTG>TTT		grancalcin, EF-hand calcium binding protein							60.0	73.0	69.0					2																	163212958		2203	4288	6491	SO:0001583	missense	25801				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity	g.chr2:163212958G>T	M81637	CCDS2218.1	2q24.2	2013-01-10	2001-11-28		ENSG00000115271	ENSG00000115271		"""EF-hand domain containing"""	15990	protein-coding gene	gene with protein product		607030	"""grancalcin, EF-hand calcium-binding protein"""			1737748, 1530588, 12804766	Standard	NM_012198		Approved	GCL	uc002ucg.3	P28676	OTTHUMG00000132057	ENST00000437150.2:c.273G>T	2.37:g.163212958G>T	ENSP00000394842:p.Leu91Phe					GCA_uc010zcu.1_Missense_Mutation_p.L72F	p.L91F	NM_012198	NP_036330	P28676	GRAN_HUMAN			4	449	+			91			EF-hand 2.		B2R5X3|Q53TB5|Q59EP3	Missense_Mutation	SNP	ENST00000437150.2	37	c.273G>T	CCDS2218.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	3.995367|3.995367	0.74703|0.74703	.|.	.|.	ENSG00000115271|ENSG00000115271	ENST00000446271;ENST00000429691;ENST00000437150;ENST00000453113;ENST00000233612|ENST00000414723	T;T;T;T;T|.	0.79247|.	-1.25;-1.25;-1.25;-1.25;-1.25|.	5.61|5.61	4.73|4.73	0.59995|0.59995	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79684|0.79684	0.4488|0.4488	M|M	0.89095|0.89095	3.005|3.005	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.83200|0.83200	-0.0079|-0.0079	10|5	0.59425|.	D|.	0.04|.	.|.	13.8724|13.8724	0.63626|0.63626	0.0748:0.0:0.9252:0.0|0.0748:0.0:0.9252:0.0	.|.	91|.	P28676|.	GRAN_HUMAN|.	F|L	117;72;91;72;72|4	ENSP00000393218:L117F;ENSP00000412899:L72F;ENSP00000394842:L91F;ENSP00000403805:L72F;ENSP00000233612:L72F|.	ENSP00000233612:L72F|.	L|W	+|+	3|2	2|0	GCA|GCA	162921204|162921204	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.221000|4.221000	0.58574|0.58574	1.503000|1.503000	0.48686|0.48686	0.655000|0.655000	0.94253|0.94253	TTG|TGG		PASS	0.299	GCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255080.3	NM_012198		5	57	5	57	---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163693137	163693137	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:163693137C>A	ENST00000332142.5	-	2	316	c.217G>T	c.(217-219)Gag>Tag	p.E73*	KCNH7_ENST00000328032.4_Nonsense_Mutation_p.E73*	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	73					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.E73*(2)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CTCTTGGTCTCGGGTCCATGG	0.483																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)|skin(2)	5						c.(217-219)GAG>TAG		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						93.0	78.0	83.0					2																	163693137		2203	4300	6503	SO:0001587	stop_gained	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163693137C>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.217G>T	2.37:g.163693137C>A	ENSP00000331727:p.Glu73*					KCNH7_uc002uci.2_Nonsense_Mutation_p.E73*	p.E73*	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			2	429	-			73			Cytoplasmic (Potential).		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Nonsense_Mutation	SNP	ENST00000332142.5	37	c.217G>T	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	38	7.277413	0.98182	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	.	.	.	5.87	5.87	0.94306	.	0.276731	0.38326	N	0.001725	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	19.1942	0.93681	0.0:1.0:0.0:0.0	.	.	.	.	X	73	.	ENSP00000333781:E73X	E	-	1	0	KCNH7	163401383	1.000000	0.71417	0.989000	0.46669	0.960000	0.62799	4.876000	0.63079	2.785000	0.95823	0.655000	0.94253	GAG		PASS	0.483	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		13	22	13	22	---	---	---	---
SCN7A	6332	broad.mit.edu	37	2	167297992	167297992	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:167297992C>G	ENST00000409855.1	-	14	2197	c.2071G>C	c.(2071-2073)Gag>Cag	p.E691Q		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	691					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.E691Q(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CACAAGGTCTCTACCCACTCT	0.448																																						uc002udu.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(2071-2073)GAG>CAG		sodium channel, voltage-gated, type VII, alpha							73.0	76.0	75.0					2																	167297992		2203	4300	6503	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167297992C>G	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2071G>C	2.37:g.167297992C>G	ENSP00000386796:p.Glu691Gln					SCN7A_uc010fpm.1_RNA	p.E691Q	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			14	2198	-			691						Missense_Mutation	SNP	ENST00000409855.1	37	c.2071G>C	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757505	0.89843	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.97378	-4.36;-4.36	4.79	4.79	0.61399	Ion transport (1);	0.000000	0.64402	D	0.000016	D	0.98207	0.9407	M	0.77313	2.365	0.51012	D	0.999908	D	0.89917	1.0	D	0.75484	0.986	D	0.98794	1.0737	10	0.87932	D	0	.	15.7091	0.77609	0.0:1.0:0.0:0.0	.	691	Q01118	SCN7A_HUMAN	Q	691	ENSP00000386796:E691Q;ENSP00000413699:E691Q	ENSP00000259060:E691Q	E	-	1	0	SCN7A	167006238	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.930000	0.70104	2.650000	0.89964	0.591000	0.81541	GAG		PASS	0.448	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			17	52	17	52	---	---	---	---
SCRN3	79634	broad.mit.edu	37	2	175265857	175265857	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:175265857A>G	ENST00000272732.6	+	4	563	c.481A>G	c.(481-483)Agg>Ggg	p.R161G	SCRN3_ENST00000409673.3_Missense_Mutation_p.R154G	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	161							dipeptidase activity (GO:0016805)	p.R161G(1)|p.R154G(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			GATAGCTGATAGGAATGAAGC	0.398																																						uc002uiq.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(481-483)AGG>GGG		secernin 3							117.0	116.0	117.0					2																	175265857		2203	4300	6503	SO:0001583	missense	79634				proteolysis		dipeptidase activity	g.chr2:175265857A>G	AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.481A>G	2.37:g.175265857A>G	ENSP00000272732:p.Arg161Gly					SCRN3_uc010zen.1_Missense_Mutation_p.R154G|SCRN3_uc010zeo.1_Intron	p.R161G	NM_024583	NP_078859	Q0VDG4	SCRN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.229)		4	569	+			161					B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Missense_Mutation	SNP	ENST00000272732.6	37	c.481A>G	CCDS2258.1	.	.	.	.	.	.	.	.	.	.	A	18.02	3.529513	0.64860	.	.	ENSG00000144306	ENST00000458563;ENST00000409673;ENST00000272732;ENST00000548031	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.43144	0.1234	L	0.57130	1.785	0.52501	D	0.999954	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.13575	-1.0504	10	0.37606	T	0.19	-17.474	15.9954	0.80234	1.0:0.0:0.0:0.0	.	154;161	B4DI11;Q0VDG4	.;SCRN3_HUMAN	G	161;154;161;161	ENSP00000396884:R161G;ENSP00000387142:R154G;ENSP00000272732:R161G;ENSP00000446727:R161G	ENSP00000272732:R161G	R	+	1	2	SCRN3	174974103	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.785000	0.55424	2.241000	0.73720	0.467000	0.42956	AGG		PASS	0.398	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255451.2	NM_024583		16	35	16	35	---	---	---	---
NFE2L2	4780	broad.mit.edu	37	2	178098944	178098944	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:178098944C>T	ENST00000397062.3	-	2	655	c.101G>A	c.(100-102)cGa>cAa	p.R34Q	NFE2L2_ENST00000397063.4_Missense_Mutation_p.R18Q|NFE2L2_ENST00000423513.1_Missense_Mutation_p.R18Q|NFE2L2_ENST00000464747.1_Missense_Mutation_p.R18Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.R18Q	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	34					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R34Q(10)|p.R34P(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAATACTTCTCGACTTACTCC	0.373			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		12	Substitution - Missense(12)		lung(12)	central_nervous_system(1)	1						c.(100-102)CGA>CAA		nuclear factor erythroid 2-like 2 isoform 1							77.0	70.0	72.0					2																	178098944		1847	4100	5947	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098944C>T		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.101G>A	2.37:g.178098944C>T	ENSP00000380252:p.Arg34Gln	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.R18Q|NFE2L2_uc010zfa.1_Missense_Mutation_p.R18Q|NFE2L2_uc002uli.3_Missense_Mutation_p.R18Q|NFE2L2_uc010fra.2_Missense_Mutation_p.R18Q|NFE2L2_uc010frb.2_Missense_Mutation_p.R18Q	p.R34Q	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	656	-			34					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.101G>A	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869837	0.91587	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64271	0.2583	M	0.86740	2.835	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.992;0.997;0.998	T	0.68700	-0.5339	10	0.72032	D	0.01	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	18;18;18;34	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	Q	18;34;18;18;18;18;18	ENSP00000380253:R18Q;ENSP00000380252:R34Q;ENSP00000411575:R18Q;ENSP00000391590:R18Q;ENSP00000400073:R18Q;ENSP00000412191:R18Q;ENSP00000410015:R18Q	ENSP00000380252:R34Q	R	-	2	0	NFE2L2	177807190	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.737000	0.93849	0.563000	0.77884	CGA		PASS	0.373	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		12	34	12	34	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179582536	179582536	+	Splice_Site	SNP	C	C	T	rs397517514		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:179582536C>T	ENST00000591111.1	-	85	24338	c.24114G>A	c.(24112-24114)gcG>gcA	p.A8038A	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Splice_Site_p.A7111A|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Splice_Site_p.A8355A|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12230				A -> E (in Ref. 3; CAD12456). {ECO:0000305}.	adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A7111A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAGTTTGCGCGCTGTAAAGA	0.378													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21075	0.0		0.0	False		,,,				2504	0.0					uc010zfg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(21331-21333)GCG>GCA		titin isoform N2-A							34.0	33.0	34.0					2																	179582536		1849	4095	5944	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179582536C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24113-1G>A	2.37:g.179582536C>T						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.A3772A	p.A7111A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		84	21557	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.21333G>A																																																																																					PASS	0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Silent	8	27	8	27	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179591833	179591833	+	Silent	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:179591833G>T	ENST00000591111.1	-	67	19532	c.19308C>A	c.(19306-19308)acC>acA	p.T6436T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.T5509T|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.T6753T|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	13203	Ig-like 45.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T5509T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTATAACCTTGGTACTGCAGC	0.418																																						uc010zfg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(16525-16527)ACC>ACA		titin isoform N2-A							117.0	115.0	115.0					2																	179591833		1898	4122	6020	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179591833G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19308C>A	2.37:g.179591833G>T						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T2170T	p.T5509T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		66	16751	-			6436					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.16527C>A																																																																																					PASS	0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	86	5	86	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179604759	179604759	+	Silent	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:179604759G>T	ENST00000591111.1	-	46	12474	c.12250C>A	c.(12250-12252)Cgg>Agg	p.R4084R	TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.R4230R|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Silent_p.R4038R|TTN_ENST00000589042.1_Silent_p.R4401R|TTN_ENST00000359218.5_Silent_p.R4163R|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0			R -> Q. {ECO:0000269|PubMed:11846417}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R4163R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCAAAGCCCGGCAGATTTGA	0.483																																						uc010zfh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(12688-12690)CGG>AGG		titin isoform novex-2							57.0	57.0	57.0					2																	179604759		1840	4097	5937	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604759G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12250C>A	2.37:g.179604759G>T						TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Silent_p.R4163R|TTN_uc010zfj.1_Silent_p.R4038R|TTN_uc002umz.1_Intron	p.R4230R	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12912	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.12688C>A																																																																																					PASS	0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	39	21	39	---	---	---	---
CCDC141	285025	broad.mit.edu	37	2	179718255	179718255	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:179718255G>T	ENST00000420890.2	-	20	3274	c.3157C>A	c.(3157-3159)Cag>Aag	p.Q1053K	CCDC141_ENST00000295723.5_Missense_Mutation_p.Q478K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1053								p.Q478K(1)|p.Q1053K(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTAAACTGCTGGTGGAGAATT	0.428																																						uc002unf.1																			2	Substitution - Missense(2)		lung(2)	ovary(7)|pancreas(2)|skin(1)	10						c.(1432-1434)CAG>AAG		coiled-coil domain containing 141							142.0	140.0	141.0					2																	179718255		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179718255G>T	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3157C>A	2.37:g.179718255G>T	ENSP00000395995:p.Gln1053Lys						p.Q478K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		10	1489	-			478					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.1432C>A		.	.	.	.	.	.	.	.	.	.	G	5.423	0.263125	0.10294	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.31247	1.5;1.5;1.5	5.71	3.69	0.42338	.	0.296489	0.24276	N	0.039943	T	0.14657	0.0354	N	0.11560	0.145	0.23528	N	0.997485	B	0.12630	0.006	B	0.12156	0.007	T	0.20207	-1.0282	10	0.07482	T	0.82	-1.1741	12.1126	0.53848	0.0:0.0:0.3926:0.6074	.	478	Q6ZP82	CC141_HUMAN	K	1053;497;478	ENSP00000395995:Q1053K;ENSP00000344627:Q497K;ENSP00000295723:Q478K	ENSP00000295723:Q478K	Q	-	1	0	CCDC141	179426500	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.838000	0.48199	1.341000	0.45600	0.655000	0.94253	CAG		PASS	0.428	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		36	58	36	58	---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185798417	185798417	+	Missense_Mutation	SNP	C	C	G	rs201683418		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:185798417C>G	ENST00000302277.6	+	3	937	c.343C>G	c.(343-345)Caa>Gaa	p.Q115E		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	115							metal ion binding (GO:0046872)	p.Q115E(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAAGGCACTCCAACGCCTGCA	0.383																																						uc002uph.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(343-345)CAA>GAA		zinc finger protein 804A							58.0	60.0	59.0					2																	185798417		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185798417C>G	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.343C>G	2.37:g.185798417C>G	ENSP00000303252:p.Gln115Glu						p.Q115E	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			3	937	+			115					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.343C>G	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304170	0.81136	.	.	ENSG00000170396	ENST00000302277	T	0.16457	2.34	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000019	T	0.33498	0.0865	L	0.51422	1.61	0.38747	D	0.954024	D	0.67145	0.996	P	0.57620	0.824	T	0.03969	-1.0988	10	0.62326	D	0.03	-17.4282	18.6403	0.91393	0.0:1.0:0.0:0.0	.	115	Q7Z570	Z804A_HUMAN	E	115	ENSP00000303252:Q115E	ENSP00000303252:Q115E	Q	+	1	0	ZNF804A	185506662	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	3.778000	0.55371	2.644000	0.89710	0.585000	0.79938	CAA		PASS	0.383	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		13	30	13	30	---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185800721	185800721	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:185800721G>T	ENST00000302277.6	+	4	1192	c.598G>T	c.(598-600)Gtt>Ttt	p.V200F		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	200							metal ion binding (GO:0046872)	p.V200F(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAATAACCAAGTTGGGGATCA	0.403																																						uc002uph.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(598-600)GTT>TTT		zinc finger protein 804A							64.0	67.0	66.0					2																	185800721		2203	4298	6501	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185800721G>T	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.598G>T	2.37:g.185800721G>T	ENSP00000303252:p.Val200Phe						p.V200F	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	1192	+			200					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.598G>T	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	7.543	0.661093	0.14645	.	.	ENSG00000170396	ENST00000302277	T	0.05447	3.44	5.32	-0.329	0.12686	.	1.608290	0.03555	N	0.226115	T	0.02970	0.0088	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39522	-0.9610	10	0.12430	T	0.62	0.0227	1.7437	0.02958	0.4063:0.1977:0.2724:0.1236	.	200	Q7Z570	Z804A_HUMAN	F	200	ENSP00000303252:V200F	ENSP00000303252:V200F	V	+	1	0	ZNF804A	185508966	0.000000	0.05858	0.003000	0.11579	0.966000	0.64601	-1.264000	0.02847	-0.058000	0.13177	-0.499000	0.04595	GTT		PASS	0.403	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		17	39	17	39	---	---	---	---
PMS1	5378	broad.mit.edu	37	2	190719768	190719768	+	Silent	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:190719768C>A	ENST00000441310.2	+	9	2003	c.1770C>A	c.(1768-1770)ctC>ctA	p.L590L	PMS1_ENST00000418224.3_Silent_p.L414L|PMS1_ENST00000447232.2_Silent_p.L590L|PMS1_ENST00000432292.3_Silent_p.L414L|PMS1_ENST00000409823.3_Silent_p.L551L|PMS1_ENST00000421722.1_3'UTR	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	590					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)	p.L590L(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			CTCAGTTTCTCATAGAAAATC	0.373			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																														uc002urh.3			yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	Mis|N	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		colorectal|endometrial|ovarian			1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(1768-1770)CTC>CTA	Direct_reversal_of_damage|MMR	postmeiotic segregation 1 isoform a							86.0	87.0	86.0					2																	190719768		2203	4298	6501	SO:0001819	synonymous_variant	5378				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190719768C>A		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.1770C>A	2.37:g.190719768C>A						PMS1_uc010zga.1_Silent_p.L551L|PMS1_uc010zgb.1_Silent_p.L529L|PMS1_uc002urk.3_Silent_p.L551L|PMS1_uc002uri.3_Silent_p.L590L|PMS1_uc010zgc.1_Silent_p.L414L|PMS1_uc010zgd.1_Silent_p.L414L|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Silent_p.L551L|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Silent_p.L375L|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_Silent_p.L258L	p.L590L	NM_000534	NP_000525	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		9	2299	+			590			HMG box.		D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Silent	SNP	ENST00000441310.2	37	c.1770C>A	CCDS2302.1																																																																																				PASS	0.373	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			6	70	6	70	---	---	---	---
MFSD6	54842	broad.mit.edu	37	2	191301381	191301381	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:191301381C>A	ENST00000392328.1	+	3	950	c.626C>A	c.(625-627)tCa>tAa	p.S209*	MFSD6_ENST00000281416.7_Nonsense_Mutation_p.S209*	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	209					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.S209*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CTCAATGTCTCAGACACCGTT	0.428																																						uc002urz.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(625-627)TCA>TAA		major facilitator superfamily domain containing							78.0	82.0	81.0					2																	191301381		2203	4300	6503	SO:0001587	stop_gained	54842				transmembrane transport	integral to membrane		g.chr2:191301381C>A		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.626C>A	2.37:g.191301381C>A	ENSP00000376141:p.Ser209*						p.S209*	NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN			3	950	+			209					D3KSZ4|Q86TH2|Q9NXM3	Nonsense_Mutation	SNP	ENST00000392328.1	37	c.626C>A	CCDS2306.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734925	0.30774	.	.	ENSG00000151690	ENST00000392328;ENST00000281416	.	.	.	5.54	3.76	0.43208	.	0.700825	0.14812	N	0.296998	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-1.9437	6.6289	0.22845	0.1431:0.7191:0.0:0.1378	.	.	.	.	X	209	.	ENSP00000281416:S209X	S	+	2	0	MFSD6	191009626	0.000000	0.05858	0.004000	0.12327	0.058000	0.15608	0.907000	0.28531	0.908000	0.36671	0.650000	0.86243	TCA		PASS	0.428	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			5	67	5	67	---	---	---	---
PLCL1	5334	broad.mit.edu	37	2	198950685	198950685	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:198950685C>T	ENST00000428675.1	+	2	2842	c.2444C>T	c.(2443-2445)cCa>cTa	p.P815L	PLCL1_ENST00000437704.2_Missense_Mutation_p.P717L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	815					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.P717L(1)|p.P815L(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TATACGATACCATTTGAATGT	0.438																																						uc010fsp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(2443-2445)CCA>CTA		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						209.0	189.0	196.0					2																	198950685		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950685C>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2444C>T	2.37:g.198950685C>T	ENSP00000402861:p.Pro815Leu					PLCL1_uc002uuv.3_Missense_Mutation_p.P736L	p.P815L	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	2735	+			815					Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.2444C>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	15.81	2.941882	0.53079	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.18174	2.23;2.23	5.5	5.5	0.81552	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.089947	0.49305	D	0.000148	T	0.22244	0.0536	L	0.60845	1.875	0.80722	D	1	P;P	0.45594	0.862;0.862	B;B	0.40134	0.32;0.32	T	0.01140	-1.1439	9	.	.	.	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	815;741	Q15111;B4DYZ4	PLCL1_HUMAN;.	L	815;717	ENSP00000402861:P815L;ENSP00000414138:P717L	.	P	+	2	0	PLCL1	198658930	1.000000	0.71417	0.843000	0.33291	0.942000	0.58702	7.641000	0.83368	2.861000	0.98227	0.655000	0.94253	CCA		PASS	0.438	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		14	50	14	50	---	---	---	---
FAM134A	79137	broad.mit.edu	37	2	220045906	220045906	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:220045906C>T	ENST00000430297.2	+	6	899	c.763C>T	c.(763-765)Cat>Tat	p.H255Y		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	255						integral component of membrane (GO:0016021)		p.H255Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAATGCCCTGCATCACAAACA	0.562																																						uc002vjw.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(763-765)CAT>TAT		hypothetical protein LOC79137							83.0	84.0	83.0					2																	220045906		2203	4300	6503	SO:0001583	missense	79137					endoplasmic reticulum|integral to membrane		g.chr2:220045906C>T	AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 17"""	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.763C>T	2.37:g.220045906C>T	ENSP00000395249:p.His255Tyr					FAM134A_uc010fwc.2_Missense_Mutation_p.H48Y|FAM134A_uc002vjx.2_Missense_Mutation_p.H48Y	p.H255Y	NM_024293	NP_077269	Q8NC44	F134A_HUMAN		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	899	+		Renal(207;0.0915)	255					Q6P1P5|Q9H0K7	Missense_Mutation	SNP	ENST00000430297.2	37	c.763C>T	CCDS2434.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305415	0.60305	.	.	ENSG00000144567	ENST00000458520;ENST00000430297;ENST00000452022;ENST00000443518	T;T	0.45276	0.9;1.38	5.32	5.32	0.75619	.	0.148418	0.64402	D	0.000013	T	0.47284	0.1437	M	0.66939	2.045	0.53688	D	0.999977	B;B	0.33637	0.42;0.349	B;B	0.34652	0.187;0.123	T	0.49263	-0.8958	10	0.49607	T	0.09	-7.5412	19.0001	0.92830	0.0:1.0:0.0:0.0	.	48;255	E7EUL4;Q8NC44	.;F134A_HUMAN	Y	48;255;48;48	ENSP00000403898:H48Y;ENSP00000395249:H255Y	ENSP00000395249:H255Y	H	+	1	0	FAM134A	219754150	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.444000	0.80532	2.476000	0.83614	0.655000	0.94253	CAT		PASS	0.562	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336147.2	NM_024293		29	69	29	69	---	---	---	---
IRS1	3667	broad.mit.edu	37	2	227662338	227662338	+	Missense_Mutation	SNP	G	G	A	rs147944503		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:227662338G>A	ENST00000305123.5	-	1	2137	c.1117C>T	c.(1117-1119)Cgc>Tgc	p.R373C	RP11-395N3.2_ENST00000607970.1_lincRNA|IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	373	Ser-rich.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.R373C(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGATGGAGCGGCTGTGGTTG	0.697											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		13621	0.0		0.001	False		,,,				2504	0.0					uc002voh.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12						c.(1117-1119)CGC>TGC		insulin receptor substrate 1		G	CYS/ARG	1,4389		0,1,2194	34.0	42.0	39.0		1117	4.6	1.0	2	dbSNP_134	39	2,8574		0,2,4286	no	missense	IRS1	NM_005544.2	180	0,3,6480	AA,AG,GG		0.0233,0.0228,0.0231	probably-damaging	373/1243	227662338	3,12963	2195	4288	6483	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227662338G>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.1117C>T	2.37:g.227662338G>A	ENSP00000304895:p.Arg373Cys		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.R373C	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	1169	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	373			Ser-rich.			Missense_Mutation	SNP	ENST00000305123.5	37	c.1117C>T	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062265	0.55432	2.28E-4	2.33E-4	ENSG00000169047	ENST00000305123	T	0.67865	-0.29	5.47	4.57	0.56435	.	0.074886	0.51477	D	0.000090	T	0.77831	0.4189	M	0.69823	2.125	0.49299	D	0.999773	D	0.76494	0.999	P	0.57846	0.828	T	0.81172	-0.1054	10	0.72032	D	0.01	-20.7319	16.0216	0.80499	0.0:0.1347:0.8653:0.0	.	373	P35568	IRS1_HUMAN	C	373	ENSP00000304895:R373C	ENSP00000304895:R373C	R	-	1	0	IRS1	227370582	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.325000	0.43840	1.245000	0.43885	0.462000	0.41574	CGC		PASS	0.697	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		10	18	10	18	---	---	---	---
TRPM8	79054	broad.mit.edu	37	2	234863887	234863887	+	Missense_Mutation	SNP	G	G	T	rs200547297		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:234863887G>T	ENST00000324695.4	+	11	1395	c.1355G>T	c.(1354-1356)cGa>cTa	p.R452L	TRPM8_ENST00000433712.2_Missense_Mutation_p.R140L|AC005538.5_ENST00000455991.1_RNA	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	452					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.R452L(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AATGACCGCCGATGGGAGGTA	0.502																																						uc002vvh.2																			1	Substitution - Missense(1)		lung(1)	skin(4)	4						c.(1354-1356)CGA>CTA		transient receptor potential cation channel,	Menthol(DB00825)						90.0	85.0	86.0					2																	234863887		2203	4300	6503	SO:0001583	missense	79054					integral to membrane		g.chr2:234863887G>T	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.1355G>T	2.37:g.234863887G>T	ENSP00000323926:p.Arg452Leu					TRPM8_uc010fyj.2_Missense_Mutation_p.R140L	p.R452L	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	11	1395	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	452			Cytoplasmic (Potential).		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	c.1355G>T	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806399	0.50421	.	.	ENSG00000144481	ENST00000324695;ENST00000433712	T;T	0.59906	0.23;0.23	5.99	5.12	0.69794	.	0.381500	0.22929	N	0.053924	T	0.45577	0.1349	L	0.37630	1.12	0.19775	N	0.999957	B;P	0.44578	0.039;0.838	B;B	0.37550	0.012;0.253	T	0.47674	-0.9099	10	0.72032	D	0.01	-8.7341	11.0562	0.47920	0.1491:0.0:0.8509:0.0	.	140;452	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	L	452;140	ENSP00000323926:R452L;ENSP00000404423:R140L	ENSP00000323926:R452L	R	+	2	0	TRPM8	234528626	0.787000	0.28750	0.846000	0.33378	0.980000	0.70556	2.318000	0.43779	1.548000	0.49413	0.655000	0.94253	CGA		PASS	0.502	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		21	35	21	35	---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238250716	238250716	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:238250716A>G	ENST00000295550.4	-	37	8209	c.7757T>C	c.(7756-7758)gTt>gCt	p.V2586A	COL6A3_ENST00000353578.4_Missense_Mutation_p.V2380A|COL6A3_ENST00000472056.1_Missense_Mutation_p.V1979A|COL6A3_ENST00000347401.3_Missense_Mutation_p.V2385A|COL6A3_ENST00000409809.1_Missense_Mutation_p.V2380A|COL6A3_ENST00000346358.4_Missense_Mutation_p.V2386A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2586	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V2586A(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACCCAAGCAAACATGACACGT	0.453																																						uc002vwl.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(7756-7758)GTT>GCT		alpha 3 type VI collagen isoform 1 precursor							89.0	75.0	79.0					2																	238250716		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238250716A>G	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7757T>C	2.37:g.238250716A>G	ENSP00000295550:p.Val2586Ala					COL6A3_uc002vwo.2_Missense_Mutation_p.V2380A|COL6A3_uc010znj.1_Missense_Mutation_p.V1979A|COL6A3_uc002vwj.2_5'UTR	p.V2586A	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	37	8042	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2586			Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.7757T>C	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	A	8.680	0.904938	0.17760	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56	5.38	5.38	0.77491	.	0.135982	0.33023	N	0.005364	T	0.22627	0.0546	N	0.24115	0.695	0.37305	D	0.908887	P;D;D	0.69078	0.952;0.971;0.997	P;P;D	0.67231	0.452;0.654;0.95	T	0.11690	-1.0577	10	0.87932	D	0	.	13.1653	0.59567	1.0:0.0:0.0:0.0	.	1979;2380;2586	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	A	2586;2385;2380;1979;2380;2386	ENSP00000295550:V2586A;ENSP00000315609:V2385A;ENSP00000315873:V2380A;ENSP00000418285:V1979A;ENSP00000386844:V2380A;ENSP00000295546:V2386A	ENSP00000295550:V2586A	V	-	2	0	COL6A3	237915455	0.897000	0.30589	0.455000	0.27031	0.090000	0.18270	7.262000	0.78410	2.036000	0.60181	0.533000	0.62120	GTT		PASS	0.453	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		9	18	9	18	---	---	---	---
CNTN4	152330	broad.mit.edu	37	3	3030128	3030128	+	Silent	SNP	T	T	C	rs78171908	byFrequency	TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr3:3030128T>C	ENST00000397461.1	+	13	1842	c.1458T>C	c.(1456-1458)gcT>gcC	p.A486A	CNTN4_ENST00000418658.1_Silent_p.A486A|CNTN4_ENST00000448906.2_Silent_p.A158A|CNTN4_ENST00000358480.3_Silent_p.A267A|CNTN4_ENST00000427331.1_Silent_p.A486A|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000397459.2_Silent_p.A158A	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	486	Ig-like C2-type 5.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.A158A(1)|p.A486A(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TTGGAACTGCTAGCAGTACTG	0.378													T|||	17	0.00339457	0.0	0.0	5008	,	,		18390	0.0159		0.0	False		,,,				2504	0.001					uc003bpc.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(1456-1458)GCT>GCC		contactin 4 isoform a precursor							91.0	93.0	93.0					3																	3030128		2203	4300	6503	SO:0001819	synonymous_variant	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3030128T>C	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1458T>C	3.37:g.3030128T>C						CNTN4_uc003bpb.1_Silent_p.A158A|CNTN4_uc003bpd.1_Silent_p.A486A|CNTN4_uc003bpe.2_Silent_p.A158A|CNTN4_uc003bpf.2_Silent_p.A158A	p.A486A	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	13	1679	+		Ovarian(110;0.156)	486			Ig-like C2-type 5.		B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	c.1458T>C	CCDS43041.1																																																																																				PASS	0.378	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			11	22	11	22	---	---	---	---
LRRN1	57633	broad.mit.edu	37	3	3886844	3886844	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr3:3886844C>G	ENST00000319331.3	+	2	1280	c.519C>G	c.(517-519)caC>caG	p.H173Q	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	173						integral component of membrane (GO:0016021)		p.H173Q(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TAAGGCTCCACCTGAACTCCA	0.398																																						uc003bpt.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(517-519)CAC>CAG		leucine rich repeat neuronal 1 precursor							97.0	105.0	102.0					3																	3886844		2203	4300	6503	SO:0001583	missense	57633					integral to membrane		g.chr3:3886844C>G	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.519C>G	3.37:g.3886844C>G	ENSP00000314901:p.His173Gln					SUMF1_uc003bps.1_Intron	p.H173Q	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	1280	+			173			LRR 5.|Extracellular (Potential).		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	c.519C>G	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089527	0.55968	.	.	ENSG00000175928	ENST00000319331	T	0.56776	0.44	5.76	1.98	0.26296	.	0.000000	0.85682	D	0.000000	T	0.56601	0.1996	L	0.31845	0.965	0.46028	D	0.998825	D	0.76494	0.999	D	0.73708	0.981	T	0.50566	-0.8813	10	0.38643	T	0.18	.	10.1402	0.42730	0.0:0.61:0.0:0.39	.	173	Q6UXK5	LRRN1_HUMAN	Q	173	ENSP00000314901:H173Q	ENSP00000314901:H173Q	H	+	3	2	LRRN1	3861844	0.998000	0.40836	0.999000	0.59377	0.982000	0.71751	0.610000	0.24253	0.351000	0.24027	0.655000	0.94253	CAC		PASS	0.398	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		27	33	27	33	---	---	---	---
ZNF621	285268	broad.mit.edu	37	3	40574078	40574078	+	Missense_Mutation	SNP	G	G	T	rs538804516		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr3:40574078G>T	ENST00000339296.5	+	5	1269	c.817G>T	c.(817-819)Ggt>Tgt	p.G273C	ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.G273C|ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000431278.1_Missense_Mutation_p.G162C	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	273					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G273C(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		GAAAGCTTTCGGTTGTAGGTC	0.443																																						uc003ckm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(817-819)GGT>TGT		zinc finger protein 621							68.0	77.0	74.0					3																	40574078		2203	4300	6503	SO:0001583	missense	285268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:40574078G>T	AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888		"""Zinc fingers, C2H2-type"", ""-"""	24787	protein-coding gene	gene with protein product							Standard	XM_005265079		Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.817G>T	3.37:g.40574078G>T	ENSP00000340841:p.Gly273Cys					ZNF621_uc003ckn.2_Missense_Mutation_p.G273C|ZNF621_uc003cko.2_Missense_Mutation_p.G238C|ZNF621_uc011aze.1_Missense_Mutation_p.G265C	p.G273C	NM_001098414	NP_001091884	Q6ZSS3	ZN621_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)	5	1033	+			273			C2H2-type 5.		Q14DC7|Q8TE91	Missense_Mutation	SNP	ENST00000339296.5	37	c.817G>T	CCDS2693.1	.	.	.	.	.	.	.	.	.	.	g	8.223	0.802859	0.16397	.	.	ENSG00000172888	ENST00000403205;ENST00000339296;ENST00000431278	T;T;T	0.15139	2.45;2.45;2.45	4.06	2.26	0.28386	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32785	U	0.005653	T	0.11922	0.0290	L	0.42529	1.33	0.09310	N	1	B;P	0.39282	0.17;0.666	B;B	0.34242	0.044;0.178	T	0.17349	-1.0372	10	0.72032	D	0.01	.	5.8497	0.18685	0.3254:0.0:0.6746:0.0	.	162;273	C9JZC2;Q6ZSS3	.;ZN621_HUMAN	C	273;273;162	ENSP00000386051:G273C;ENSP00000340841:G273C;ENSP00000413236:G162C	ENSP00000340841:G273C	G	+	1	0	ZNF621	40549082	0.000000	0.05858	0.017000	0.16124	0.832000	0.47134	0.394000	0.20834	0.674000	0.31244	-0.145000	0.13849	GGT		PASS	0.443	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	NM_198484		14	16	14	16	---	---	---	---
CCR5	1234	broad.mit.edu	37	3	46415167	46415167	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr3:46415167C>A	ENST00000292303.4	+	2	920	c.774C>A	c.(772-774)aaC>aaA	p.N258K	RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000343801.4_Missense_Mutation_p.N258K|CCR5_ENST00000445772.1_Missense_Mutation_p.N258K	NM_001100168.1	NP_001093638.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	258					calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|signaling (GO:0023052)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.N258K(1)		central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	TTCTCCTGAACACCTTCCAGG	0.468																																						uc003cpo.3																			1	Substitution - Missense(1)		lung(1)	lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(772-774)AAC>AAA		chemokine (C-C motif) receptor 5	Maraviroc(DB04835)						236.0	251.0	246.0					3																	46415167		2203	4296	6499	SO:0001583	missense	1234				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity	g.chr3:46415167C>A		CCDS2739.1	3p21	2012-08-08	2012-01-23		ENSG00000160791	ENSG00000160791		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1606	protein-coding gene	gene with protein product		601373	"""chemokine (C-C motif) receptor 5"""	CMKBR5		8639485	Standard	NM_001100168		Approved	CKR-5, CC-CKR-5, CKR5, CD195, IDDM22	uc003cpo.4	P51681	OTTHUMG00000133481	ENST00000292303.4:c.774C>A	3.37:g.46415167C>A	ENSP00000292303:p.Asn258Lys					CCR5_uc010hjd.2_Missense_Mutation_p.N258K	p.N258K	NM_001100168	NP_001093638	P51681	CCR5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	3	896	+			258			Helical; Name=6; (Potential).		O14692|O14693|O14695|O14696|O14697|O14698|O14699|O14700|O14701|O14702|O14703|O14704|O14705|O14706|O14707|O14708|O15538|Q9UPA4	Missense_Mutation	SNP	ENST00000292303.4	37	c.774C>A	CCDS2739.1	.	.	.	.	.	.	.	.	.	.	C	6.550	0.469773	0.12461	.	.	ENSG00000160791	ENST00000343801;ENST00000400886;ENST00000292303;ENST00000445772	T;T;T	0.72051	-0.62;-0.62;-0.62	5.69	2.84	0.33178	GPCR, rhodopsin-like superfamily (1);	0.704221	0.12588	U	0.455826	T	0.56992	0.2023	L	0.41236	1.265	0.09310	N	1	B	0.16802	0.019	B	0.19946	0.027	T	0.52756	-0.8533	10	0.66056	D	0.02	.	1.9288	0.03322	0.1274:0.4156:0.2435:0.2135	.	258	P51681	CCR5_HUMAN	K	258;238;258;258	ENSP00000343985:N258K;ENSP00000292303:N258K;ENSP00000404881:N258K	ENSP00000292303:N258K	N	+	3	2	CCR5	46390171	0.000000	0.05858	0.661000	0.29709	0.151000	0.21798	-0.346000	0.07760	0.716000	0.32124	0.561000	0.74099	AAC		PASS	0.468	CCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257377.2	NM_000579		65	105	65	105	---	---	---	---
LAMB2	3913	broad.mit.edu	37	3	49166717	49166717	+	Missense_Mutation	SNP	C	C	A	rs148333147		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr3:49166717C>A	ENST00000418109.1	-	13	1723	c.1559G>T	c.(1558-1560)cGc>cTc	p.R520L	LAMB2_ENST00000305544.4_Missense_Mutation_p.R520L	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	520	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.R520L(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTCACAGGGGCGGCAGCCGAG	0.622																																						uc003cwe.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1558-1560)CGC>CTC		laminin, beta 2 precursor							38.0	43.0	41.0					3																	49166717		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49166717C>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.1559G>T	3.37:g.49166717C>A	ENSP00000388325:p.Arg520Leu					LAMB2_uc003cwf.1_Missense_Mutation_p.R520L	p.R520L	NM_002292	NP_002283	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	12	1858	-			520			Laminin EGF-like 4.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.1559G>T	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882870	0.72410	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.35605	1.3;1.3	5.16	5.16	0.70880	EGF-like, laminin (2);	0.194587	0.40818	N	0.001010	T	0.34250	0.0891	M	0.64997	1.995	0.58432	D	0.999999	D	0.54601	0.967	B	0.38056	0.264	T	0.34750	-0.9816	10	0.51188	T	0.08	.	14.003	0.64444	0.0:0.9248:0.0:0.0752	.	520	P55268	LAMB2_HUMAN	L	520	ENSP00000388325:R520L;ENSP00000307156:R520L	ENSP00000307156:R520L	R	-	2	0	LAMB2	49141721	1.000000	0.71417	0.991000	0.47740	0.961000	0.63080	5.707000	0.68370	2.392000	0.81423	0.655000	0.94253	CGC		PASS	0.622	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		12	10	12	10	---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51265418	51265418	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr3:51265418G>T	ENST00000266037.9	+	17	1569	c.1546G>T	c.(1546-1548)Gac>Tac	p.D516Y		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	516	DHR-1.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.D505Y(1)|p.D516Y(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TACAGCAAAGGACAAAGGGGA	0.428																																						uc011bds.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1546-1548)GAC>TAC		dedicator of cytokinesis 3							122.0	115.0	117.0					3																	51265418		1973	4153	6126	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51265418G>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1546G>T	3.37:g.51265418G>T	ENSP00000266037:p.Asp516Tyr						p.D516Y	NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	17	1569	+			516			DHR-1.		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.1546G>T	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035359	0.93630	.	.	ENSG00000088538	ENST00000266037	T	0.15603	2.41	6.16	6.16	0.99307	.	0.087086	0.85682	D	0.000000	T	0.52517	0.1739	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.55988	-0.8053	10	0.72032	D	0.01	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	516	Q8IZD9	DOCK3_HUMAN	Y	516	ENSP00000266037:D516Y	ENSP00000266037:D516Y	D	+	1	0	DOCK3	51240458	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	GAC		PASS	0.428	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		16	15	16	15	---	---	---	---
SPCS1	28972	broad.mit.edu	37	3	52740666	52740666	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr3:52740666A>T	ENST00000602728.1	+	2	212	c.43A>T	c.(43-45)Aag>Tag	p.K15*	GLT8D1_ENST00000478968.2_5'Flank|GLT8D1_ENST00000266014.5_5'Flank|GLT8D1_ENST00000407584.3_5'Flank|SPCS1_ENST00000423431.1_De_novo_Start_InFrame|GLT8D1_ENST00000491606.1_5'Flank|SPCS1_ENST00000233025.7_Nonsense_Mutation_p.K82*			Q9Y6A9	SPCS1_HUMAN	signal peptidase complex subunit 1 homolog (S. cerevisiae)	15					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)	p.K15*(1)|p.K82*(1)		kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)		CCAGGATTACAAGGGCCAGAA	0.478																																						uc011bei.1																			2	Substitution - Nonsense(2)		lung(2)		0						c.(244-246)AAG>TAG		signal peptidase complex subunit 1 homolog							114.0	118.0	116.0					3																	52740666		2203	4300	6503	SO:0001587	stop_gained	28972				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to endoplasmic reticulum membrane|microsome|signal peptidase complex	peptidase activity	g.chr3:52740666A>T	AF092138	CCDS33769.2	3p21.31	2005-01-05			ENSG00000114902	ENSG00000114902			23401	protein-coding gene	gene with protein product		610358				8632014	Standard	NM_014041		Approved	SPC12, HSPC033, YJR010C-A, SPC1	uc011bei.2	Q9Y6A9	OTTHUMG00000154930	ENST00000602728.1:c.43A>T	3.37:g.52740666A>T	ENSP00000473265:p.Lys15*					GLT8D1_uc003dfj.2_5'Flank|GLT8D1_uc003dfk.2_5'Flank|GLT8D1_uc003dfl.2_5'Flank|GLT8D1_uc003dfm.2_5'Flank|GLT8D1_uc003dfn.2_5'Flank|GLT8D1_uc003dfo.1_5'Flank|GLT8D1_uc010hmm.1_5'Flank	p.K82*	NM_014041	NP_054760	Q9Y6A9	SPCS1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)	2	449	+			82			Cytoplasmic (Potential).		B3KNF8|Q9BVW1	Nonsense_Mutation	SNP	ENST00000602728.1	37	c.244A>T		.	.	.	.	.	.	.	.	.	.	A	40	8.227909	0.98714	.	.	ENSG00000114902	ENST00000233025	.	.	.	5.8	5.8	0.92144	.	0.042192	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.1688	15.3317	0.74219	1.0:0.0:0.0:0.0	.	.	.	.	X	82	.	ENSP00000233025:K82X	K	+	1	0	SPCS1	52715706	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.519000	0.73768	2.206000	0.71126	0.528000	0.53228	AAG		PASS	0.478	SPCS1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467759.1	NM_014041		15	19	15	19	---	---	---	---
ADAMTS9	56999	broad.mit.edu	37	3	64636807	64636807	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr3:64636807C>A	ENST00000498707.1	-	9	1691	c.1349G>T	c.(1348-1350)tGt>tTt	p.C450F	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.C422F|ADAMTS9_ENST00000459780.1_Missense_Mutation_p.C450F	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	450	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.C450F(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTCTTCTTTACATTTGTTGTT	0.408																																						uc003dmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|urinary_tract(1)|skin(1)	4						c.(1348-1350)TGT>TTT		ADAM metallopeptidase with thrombospondin type 1							203.0	181.0	188.0					3																	64636807		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64636807C>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.1349G>T	3.37:g.64636807C>A	ENSP00000418735:p.Cys450Phe					ADAMTS9_uc011bfo.1_Missense_Mutation_p.C422F|ADAMTS9_uc003dmh.1_Missense_Mutation_p.C279F|ADAMTS9_uc003dmk.1_Missense_Mutation_p.C450F	p.C450F	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	9	1381	-		Lung NSC(201;0.00682)	450			Peptidase M12B.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.1349G>T	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853285	0.91355	.	.	ENSG00000163638	ENST00000295903;ENST00000498707;ENST00000459780	D;D;D	0.85013	-1.93;-1.93;-1.93	5.89	5.89	0.94794	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.96040	0.8710	H	0.98542	4.26	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	0.97118	0.9809	10	0.87932	D	0	.	20.2508	0.98407	0.0:1.0:0.0:0.0	.	422;450;450;450	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	F	422;450;450	ENSP00000295903:C422F;ENSP00000418735:C450F;ENSP00000419217:C450F	ENSP00000295903:C422F	C	-	2	0	ADAMTS9	64611847	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.788000	0.95919	0.585000	0.79938	TGT		PASS	0.408	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			6	33	6	33	---	---	---	---
CRYBG3	131544	broad.mit.edu	37	3	97596805	97596805	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr3:97596805G>T	ENST00000182096.4	+	1	987	c.923G>T	c.(922-924)gGt>gTt	p.G308V		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2256							carbohydrate binding (GO:0030246)	p.G308V(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GCCAGATTTGGTGGAATTTTT	0.373																																						uc003drx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(922-924)GGT>GTT		beta-gamma crystallin domain containing 3							73.0	68.0	70.0					3																	97596805		1806	4079	5885	SO:0001583	missense	131544							g.chr3:97596805G>T			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.923G>T	3.37:g.97596805G>T	ENSP00000182096:p.Gly308Val						p.G308V	NM_153605	NP_705833					1	987	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37	c.923G>T		.	.	.	.	.	.	.	.	.	.	G	14.10	2.433831	0.43224	.	.	ENSG00000080200	ENST00000182096	T	0.78924	-1.22	5.9	5.01	0.66863	.	1.393190	0.04319	N	0.350428	T	0.73055	0.3538	L	0.34521	1.04	0.80722	D	1	P	0.34724	0.465	B	0.29353	0.101	T	0.55655	-0.8107	10	0.66056	D	0.02	.	15.3197	0.74112	0.0:0.1391:0.8609:0.0	.	308	Q68DQ2	CRBG3_HUMAN	V	308	ENSP00000182096:G308V	ENSP00000182096:G308V	G	+	2	0	CRYBG3	99079495	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.408000	0.52651	1.464000	0.47987	0.650000	0.86243	GGT		PASS	0.373	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		15	55	15	55	---	---	---	---
OR5K1	26339	broad.mit.edu	37	3	98189081	98189081	+	Missense_Mutation	SNP	A	A	G	rs199850452	byFrequency	TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr3:98189081A>G	ENST00000332650.5	+	1	758	c.661A>G	c.(661-663)Att>Gtt	p.I221V		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I221V(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTATCTCTATATTCTTCTTAC	0.348																																						uc003dsm.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(661-663)ATT>GTT		olfactory receptor, family 5, subfamily K,							106.0	112.0	110.0					3																	98189081		2199	4297	6496	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98189081A>G	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.661A>G	3.37:g.98189081A>G	ENSP00000373193:p.Ile221Val						p.I221V	NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN			1	661	+			221			Cytoplasmic (Potential).		B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.661A>G	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	A	7.872	0.728414	0.15507	.	.	ENSG00000232382	ENST00000332650	T	0.00374	7.72	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	D	0.000546	T	0.00524	0.0017	L	0.35723	1.085	0.20307	N	0.999916	D	0.54207	0.965	D	0.63877	0.919	T	0.61845	-0.6979	10	0.49607	T	0.09	-20.4978	12.2578	0.54633	1.0:0.0:0.0:0.0	.	221	Q8NHB7	OR5K1_HUMAN	V	221	ENSP00000373193:I221V	ENSP00000373193:I221V	I	+	1	0	OR5K1	99671771	0.998000	0.40836	0.675000	0.29917	0.389000	0.30415	3.873000	0.56093	1.982000	0.57802	0.460000	0.39030	ATT		PASS	0.348	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			19	65	19	65	---	---	---	---
ABI3BP	25890	broad.mit.edu	37	3	100523636	100523636	+	Splice_Site	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr3:100523636C>A	ENST00000284322.5	-	20	1856	c.1747G>T	c.(1747-1749)Gct>Tct	p.A583S	ABI3BP_ENST00000383691.4_Splice_Site_p.A537S|ABI3BP_ENST00000471714.1_Splice_Site_p.A1260S	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	583	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.A537S(1)|p.A1260S(1)|p.A584S(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AAGCATTTACCAGGTGTGGTG	0.418																																						uc003dun.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						c.(1747-1749)GCT>TCT		ABI gene family, member 3 (NESH) binding protein							183.0	177.0	179.0					3																	100523636		1950	4139	6089	SO:0001630	splice_region_variant	25890					extracellular space		g.chr3:100523636C>A	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1747+1G>T	3.37:g.100523636C>A						ABI3BP_uc003duj.2_Missense_Mutation_p.A138S|ABI3BP_uc003duk.2_Missense_Mutation_p.A267S|ABI3BP_uc003dul.2_Missense_Mutation_p.A388S|ABI3BP_uc011bhd.1_Missense_Mutation_p.A537S|ABI3BP_uc003dum.2_5'UTR	p.A583S	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN			20	1832	-			583			Pro-rich.		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.1747G>T	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.48|19.48	3.836316|3.836316	0.71373|0.71373	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000383692;ENST00000383691;ENST00000486770;ENST00000482765|ENST00000497395;ENST00000466947	T;T;T|.	0.56611|.	2.12;0.45;1.7|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.786378|.	0.11816|.	N|.	0.526706|.	T|T	0.46112|0.46112	0.1376|0.1376	L|L	0.34521|0.34521	1.04|1.04	0.30812|0.30812	N|N	0.73871|0.73871	P;B;P;P|.	0.52842|.	0.501;0.376;0.956;0.872|.	B;B;B;B|.	0.44224|.	0.081;0.099;0.444;0.165|.	T|T	0.48068|0.48068	-0.9067|-0.9067	9|5	.|.	.|.	.|.	-1.5174|-1.5174	14.5314|14.5314	0.67929|0.67929	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	537;583;1260;267|.	B4DSV9;Q7Z7G0;D3YTG3;D3YTD6|.	.;TARSH_HUMAN;.;.|.	S|F	1260;583;267;537;21;132|18;140	ENSP00000420524:A1260S;ENSP00000284322:A583S;ENSP00000373189:A537S|.	.|.	A|C	-|-	1|2	0|0	ABI3BP|ABI3BP	102006326|102006326	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.589000|0.589000	0.36550|0.36550	4.064000|4.064000	0.57506|0.57506	2.490000|2.490000	0.84030|0.84030	0.543000|0.543000	0.68304|0.68304	GCT|TGC		PASS	0.418	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1		Missense_Mutation	28	34	28	34	---	---	---	---
FBXO40	51725	broad.mit.edu	37	3	121345583	121345583	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr3:121345583G>T	ENST00000338040.4	+	4	2370	c.1956G>T	c.(1954-1956)tgG>tgT	p.W652C		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	652					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.W652C(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TCAAGAGCTGGGAGTTTAATG	0.453																																						uc003eeg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(1954-1956)TGG>TGT		F-box protein 40							151.0	153.0	153.0					3																	121345583		2203	4300	6503	SO:0001583	missense	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121345583G>T	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.1956G>T	3.37:g.121345583G>T	ENSP00000337510:p.Trp652Cys						p.W652C	NM_016298	NP_057382	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	4	2166	+			652					B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	c.1956G>T	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539282	0.85917	.	.	ENSG00000163833	ENST00000338040	T	0.48522	0.81	6.17	6.17	0.99709	F-box domain, Skp2-like (1);	0.120947	0.64402	D	0.000008	T	0.70649	0.3248	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71364	-0.4615	10	0.87932	D	0	-9.9029	18.3732	0.90420	0.0:0.0:1.0:0.0	.	652	Q9UH90	FBX40_HUMAN	C	652	ENSP00000337510:W652C	ENSP00000337510:W652C	W	+	3	0	FBXO40	122828273	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TGG		PASS	0.453	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		9	207	9	207	---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124281726	124281726	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr3:124281726G>T	ENST00000393496.1	+	2	249	c.85G>T	c.(85-87)Gac>Tac	p.D29Y	KALRN_ENST00000360013.3_Missense_Mutation_p.D1656Y			O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1656					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D1656Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGTCCTCCAGGACTTCAGTGC	0.627																																						uc003ehg.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(4966-4968)GAC>TAC		kalirin, RhoGEF kinase isoform 1							26.0	29.0	28.0					3																	124281726		2029	4209	6238	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124281726G>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000393496.1:c.85G>T	3.37:g.124281726G>T	ENSP00000377134:p.Asp29Tyr					KALRN_uc003ehi.2_Missense_Mutation_p.D29Y	p.D1656Y	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			34	5093	+			1656			SH3 1.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000393496.1	37	c.4966G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.70|16.70	3.195937|3.195937	0.58126|0.58126	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000393496|ENST00000354186	T;T|.	0.75260|.	-0.92;-0.28|.	4.84|4.84	3.97|3.97	0.46021|0.46021	Src homology-3 domain (3);|.	0.275088|.	0.32952|.	N|.	0.005441|.	T|T	0.71264|0.71264	0.3319|0.3319	M|M	0.71206|0.71206	2.165|2.165	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.996|.	D;P|.	0.91635|.	0.999;0.819|.	T|T	0.71583|0.71583	-0.4549|-0.4549	10|5	0.87932|.	D|.	0|.	.|.	13.1661|13.1661	0.59571|0.59571	0.077:0.0:0.923:0.0|0.077:0.0:0.923:0.0	.|.	29;1656|.	O60229-5;O60229|.	.;KALRN_HUMAN|.	Y|S	1656;29|1624	ENSP00000353109:D1656Y;ENSP00000377134:D29Y|.	ENSP00000353109:D1656Y|.	D|R	+|+	1|3	0|2	KALRN|KALRN	125764416|125764416	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.374000|0.374000	0.29953|0.29953	9.598000|9.598000	0.98277|0.98277	1.266000|1.266000	0.44231|0.44231	0.563000|0.563000	0.77884|0.77884	GAC|AGG		PASS	0.627	KALRN-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000258840.2	NM_003947		4	13	4	13	---	---	---	---
HEG1	57493	broad.mit.edu	37	3	124738123	124738123	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr3:124738123G>T	ENST00000311127.4	-	5	1638	c.1571C>A	c.(1570-1572)cCa>cAa	p.P524Q	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	524	Ser-rich.				cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.P524Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TTCTCCACGTGGTGCTGATGA	0.443																																						uc003ehs.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1570-1572)CCA>CAA		HEG homolog 1 precursor							91.0	90.0	90.0					3																	124738123		2019	4191	6210	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124738123G>T	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1571C>A	3.37:g.124738123G>T	ENSP00000311502:p.Pro524Gln					HEG1_uc011bke.1_Missense_Mutation_p.P524Q	p.P524Q	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN			5	1639	-			524			Extracellular (Potential).|Ser-rich.		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.1571C>A	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.091078	0.55968	.	.	ENSG00000173706	ENST00000311127	D	0.88277	-2.36	5.13	4.23	0.50019	.	.	.	.	.	D	0.85669	0.5750	L	0.56769	1.78	0.09310	N	1	P;P	0.37955	0.612;0.478	B;B	0.33750	0.169;0.081	T	0.79019	-0.1974	9	0.87932	D	0	.	10.6688	0.45747	0.0:0.0:0.8093:0.1907	.	524;524	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	Q	524	ENSP00000311502:P524Q	ENSP00000311502:P524Q	P	-	2	0	HEG1	126220813	0.007000	0.16637	0.014000	0.15608	0.926000	0.56050	1.083000	0.30815	1.345000	0.45676	0.650000	0.86243	CCA		PASS	0.443	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		5	99	5	99	---	---	---	---
DBR1	51163	broad.mit.edu	37	3	137880959	137880959	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr3:137880959C>A	ENST00000260803.4	-	8	1560	c.1407G>T	c.(1405-1407)agG>agT	p.R469S	DBR1_ENST00000505015.2_Missense_Mutation_p.R235S	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	469					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)	p.R469S(1)		NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CTGGCAAGATCCTGACATCAG	0.443																																						uc003erv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1405-1407)AGG>AGT		debranching enzyme homolog 1							131.0	133.0	133.0					3																	137880959		2203	4300	6503	SO:0001583	missense	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880959C>A	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1407G>T	3.37:g.137880959C>A	ENSP00000260803:p.Arg469Ser					DBR1_uc003eru.2_Missense_Mutation_p.R418S|DBR1_uc003ert.2_Missense_Mutation_p.R237S	p.R469S	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN			8	1543	-			469					Q96GH0|Q9NXQ6	Missense_Mutation	SNP	ENST00000260803.4	37	c.1407G>T	CCDS33863.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.248954	0.59103	.	.	ENSG00000138231	ENST00000260803;ENST00000505015	T	0.44083	0.93	5.59	4.72	0.59763	.	0.061995	0.64402	D	0.000004	T	0.55768	0.1941	L	0.58101	1.795	0.44816	D	0.997827	P;D	0.76494	0.473;0.999	B;D	0.68943	0.091;0.961	T	0.51663	-0.8677	10	0.22109	T	0.4	-23.3332	12.2461	0.54571	0.0:0.9175:0.0:0.0824	.	469;237	Q9UK59;Q9UK59-2	DBR1_HUMAN;.	S	469;235	ENSP00000260803:R469S	ENSP00000260803:R469S	R	-	3	2	DBR1	139363649	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.597000	0.24059	1.367000	0.46095	-0.136000	0.14681	AGG		PASS	0.443	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			47	96	47	96	---	---	---	---
CLSTN2	64084	broad.mit.edu	37	3	140122641	140122641	+	Nonsense_Mutation	SNP	G	G	T	rs371820039		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr3:140122641G>T	ENST00000458420.3	+	3	593	c.403G>T	c.(403-405)Gag>Tag	p.E135*	AC092988.1_ENST00000580582.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	135	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.E135*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TGGGCCCCACGAGACAGCCTG	0.592										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(403-405)GAG>TAG		calsyntenin 2 precursor							84.0	80.0	81.0					3																	140122641		2203	4300	6503	SO:0001587	stop_gained	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140122641G>T	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.403G>T	3.37:g.140122641G>T	ENSP00000402460:p.Glu135*	HNSCC(16;0.037)				CLSTN2_uc003etm.2_Nonsense_Mutation_p.E135*	p.E135*	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			3	593	+			135			Extracellular (Potential).|Cadherin 1.		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Nonsense_Mutation	SNP	ENST00000458420.3	37	c.403G>T	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	38	6.886259	0.97912	.	.	ENSG00000158258	ENST00000458420	.	.	.	5.64	5.64	0.86602	.	0.127444	0.53938	D	0.000056	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.972	17.2112	0.86930	0.0:0.0:1.0:0.0	.	.	.	.	X	135	.	ENSP00000402460:E135X	E	+	1	0	CLSTN2	141605331	1.000000	0.71417	0.924000	0.36721	0.720000	0.41350	7.494000	0.81503	2.653000	0.90120	0.655000	0.94253	GAG		PASS	0.592	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		22	77	22	77	---	---	---	---
CPA3	1359	broad.mit.edu	37	3	148586807	148586807	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr3:148586807C>A	ENST00000296046.3	+	3	302	c.250C>A	c.(250-252)Caa>Aaa	p.Q84K	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	84					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.Q84K(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TGCCTTGGATCAAAATAAAAT	0.418																																						uc003ewm.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(250-252)CAA>AAA		carboxypeptidase A3 precursor							97.0	83.0	88.0					3																	148586807		2203	4300	6503	SO:0001583	missense	1359				proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148586807C>A		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"""mast cell carboxypeptidase A"", ""tissue carboxypeptidase A"""	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.250C>A	3.37:g.148586807C>A	ENSP00000296046:p.Gln84Lys						p.Q84K	NM_001870	NP_001861	P15088	CBPA3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		3	302	+			84					Q96E94	Missense_Mutation	SNP	ENST00000296046.3	37	c.250C>A	CCDS3138.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.426260	0.25726	.	.	ENSG00000163751	ENST00000296046	T	0.13538	2.58	5.45	4.49	0.54785	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.287880	0.34531	N	0.003883	T	0.10766	0.0263	L	0.35341	1.055	0.31627	N	0.64953	B	0.20887	0.049	B	0.17979	0.02	T	0.04678	-1.0934	10	0.25751	T	0.34	.	11.9156	0.52763	0.1388:0.7384:0.1228:0.0	.	84	P15088	CBPA3_HUMAN	K	84	ENSP00000296046:Q84K	ENSP00000296046:Q84K	Q	+	1	0	CPA3	150069497	0.590000	0.26815	0.954000	0.39281	0.996000	0.88848	0.531000	0.23052	2.542000	0.85734	0.655000	0.94253	CAA		PASS	0.418	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870		57	56	57	56	---	---	---	---
IGSF10	285313	broad.mit.edu	37	3	151161171	151161171	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr3:151161171G>T	ENST00000282466.3	-	5	5563	c.5564C>A	c.(5563-5565)aCt>aAt	p.T1855N	IGSF10_ENST00000495443.1_5'Flank	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1855	Ig-like C2-type 5.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.T1855N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCACCCCAAGTGCCTACAAT	0.488																																						uc011bod.1																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(5)|central_nervous_system(1)	13						c.(5563-5565)ACT>AAT		immunoglobulin superfamily, member 10 precursor							73.0	71.0	72.0					3																	151161171		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151161171G>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.5564C>A	3.37:g.151161171G>T	ENSP00000282466:p.Thr1855Asn					IGSF10_uc011bob.1_5'Flank|IGSF10_uc011boc.1_5'Flank	p.T1855N	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		5	5564	-			1855			Ig-like C2-type 5.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.5564C>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	3.140	-0.176489	0.06380	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.66815	-0.23	5.26	1.42	0.22433	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.821953	0.10242	N	0.698225	T	0.49372	0.1553	L	0.31120	0.905	0.09310	N	1	B	0.24132	0.098	B	0.21151	0.033	T	0.31308	-0.9948	9	.	.	.	.	6.4035	0.21652	0.2991:0.1306:0.5703:0.0	.	1855	Q6WRI0	IGS10_HUMAN	N	1855;482	ENSP00000282466:T1855N	.	T	-	2	0	IGSF10	152643861	0.000000	0.05858	0.047000	0.18901	0.753000	0.42808	-0.890000	0.04140	0.405000	0.25532	0.591000	0.81541	ACT		PASS	0.488	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		20	71	20	71	---	---	---	---
VEPH1	79674	broad.mit.edu	37	3	157099055	157099055	+	Silent	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr3:157099055G>T	ENST00000362010.2	-	7	1324	c.1017C>A	c.(1015-1017)tcC>tcA	p.S339S	VEPH1_ENST00000392833.2_Silent_p.S339S|VEPH1_ENST00000543418.1_Silent_p.S339S|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Silent_p.S339S	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	339						plasma membrane (GO:0005886)		p.S339S(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CCAAGATTGAGGAGAAGGTGT	0.512																																						uc003fbj.1																			1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(1)|lung(1)	5						c.(1015-1017)TCC>TCA		ventricular zone expressed PH domain homolog 1							168.0	162.0	164.0					3																	157099055		2203	4300	6503	SO:0001819	synonymous_variant	79674					plasma membrane		g.chr3:157099055G>T	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1017C>A	3.37:g.157099055G>T						VEPH1_uc003fbk.1_Silent_p.S339S|VEPH1_uc010hvu.1_Silent_p.S339S	p.S339S	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		7	1334	-			339					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Silent	SNP	ENST00000362010.2	37	c.1017C>A	CCDS3179.1																																																																																				PASS	0.512	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		7	136	7	136	---	---	---	---
RSRC1	51319	broad.mit.edu	37	3	157841731	157841731	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr3:157841731G>C	ENST00000295930.3	+	3	433	c.271G>C	c.(271-273)Ggg>Cgg	p.G91R	RSRC1_ENST00000464171.1_Missense_Mutation_p.G91R|RSRC1_ENST00000312179.6_Missense_Mutation_p.G91R|RSRC1_ENST00000480820.1_Missense_Mutation_p.G91R|RSRC1_ENST00000475278.2_Missense_Mutation_p.G91R	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	91	Arg/Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)		p.G91R(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			AAGGGGTCGAGGGAAATCCTA	0.383																																						uc003fbt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(271-273)GGG>CGG		arginine/serine-rich coiled-coil 1							97.0	99.0	99.0					3																	157841731		2203	4300	6503	SO:0001583	missense	51319				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	g.chr3:157841731G>C	AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 21"""	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000295930.3:c.271G>C	3.37:g.157841731G>C	ENSP00000295930:p.Gly91Arg					RSRC1_uc011bou.1_Missense_Mutation_p.G91R|RSRC1_uc003fbu.1_Missense_Mutation_p.G91R|RSRC1_uc003fbv.2_Missense_Mutation_p.G91R	p.G91R	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)		3	382	+			91			Arg/Ser-rich.		A8K2R9|Q96QK2|Q9NZE5	Missense_Mutation	SNP	ENST00000295930.3	37	c.271G>C	CCDS3181.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967431	0.74131	.	.	ENSG00000174891	ENST00000480820;ENST00000494002;ENST00000295930;ENST00000471994;ENST00000464171;ENST00000312179;ENST00000475278;ENST00000476899	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.72708	0.3494	L	0.33485	1.01	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.75263	-0.3379	9	0.87932	D	0	.	19.5228	0.95192	0.0:0.0:1.0:0.0	.	91;91;91	B4DTW0;Q96IZ7-2;Q96IZ7	.;.;RSRC1_HUMAN	R	91	.	ENSP00000295930:G91R	G	+	1	0	RSRC1	159324425	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.633000	0.67825	2.674000	0.91012	0.655000	0.94253	GGG		PASS	0.383	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352063.2	NM_016625		92	74	92	74	---	---	---	---
IQCJ	654502	broad.mit.edu	37	3	158983023	158983023	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr3:158983023G>T	ENST00000451172.1	+	5	416	c.311G>T	c.(310-312)gGg>gTg	p.G104V	IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ_ENST00000482126.1_Missense_Mutation_p.G77V|IQCJ-SCHIP1_ENST00000485419.1_Intron	NM_001042705.2	NP_001036170.1	Q1A5X6	IQCJ_HUMAN	IQ motif containing J	104								p.G104V(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			GCCCCTGTTGGGAAGATTCAT	0.448																																						uc003fcp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(310-312)GGG>GTG		IQ motif containing J isoform CaMBPv1							138.0	137.0	137.0					3																	158983023		1889	4114	6003	SO:0001583	missense	654502							g.chr3:158983023G>T	DQ309553, DQ309554	CCDS46946.1, CCDS46947.1, CCDS56290.1	3q25.32	2011-03-24			ENSG00000214216	ENSG00000214216			32406	protein-coding gene	gene with protein product		611622				17045569	Standard	NM_001042705		Approved			Q1A5X6	OTTHUMG00000166440	ENST00000451172.1:c.311G>T	3.37:g.158983023G>T	ENSP00000402153:p.Gly104Val					SCHIP1_uc003fcq.1_Intron|SCHIP1_uc003fcr.1_Intron|IQCJ_uc010hvy.1_Missense_Mutation_p.G77V	p.G104V	NM_001042705	NP_001036170	Q1A5X6	IQCJ_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)		5	416	+			104					B7ZMM2|B9EH97|Q1A5X5	Missense_Mutation	SNP	ENST00000451172.1	37	c.311G>T	CCDS46946.1	.	.	.	.	.	.	.	.	.	.	G	8.400	0.841766	0.16963	.	.	ENSG00000214216	ENST00000451172;ENST00000482126	.	.	.	2.9	-2.68	0.06041	.	.	.	.	.	T	0.16727	0.0402	N	0.14661	0.345	0.09310	N	1	B;B	0.28636	0.218;0.218	B;B	0.28139	0.039;0.086	T	0.17653	-1.0362	8	0.41790	T	0.15	.	2.6458	0.04984	0.3726:0.0:0.2813:0.3462	.	77;104	B7ZMM2;Q1A5X6	.;IQCJ_HUMAN	V	104;77	.	ENSP00000402153:G104V	G	+	2	0	IQCJ	160465717	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.118000	0.10692	-0.730000	0.04869	-0.218000	0.12543	GGG		PASS	0.448	IQCJ-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352395.1	NM_001042705.1		8	267	8	267	---	---	---	---
SI	6476	broad.mit.edu	37	3	164709970	164709970	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr3:164709970G>T	ENST00000264382.3	-	43	5040	c.4978C>A	c.(4978-4980)Cat>Aat	p.H1660N		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1660	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.H1660N(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CTTACTGTATGGTAGTCAAAC	0.353										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(4978-4980)CAT>AAT		sucrase-isomaltase	Acarbose(DB00284)						119.0	126.0	124.0					3																	164709970		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164709970G>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4978C>A	3.37:g.164709970G>T	ENSP00000264382:p.His1660Asn	HNSCC(35;0.089)					p.H1660N	NM_001041	NP_001032	P14410	SUIS_HUMAN			43	5040	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1660			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4978C>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480599	0.63849	.	.	ENSG00000090402	ENST00000264382	D	0.90788	-2.73	4.74	3.86	0.44501	.	0.050719	0.85682	D	0.000000	D	0.92378	0.7581	L	0.58810	1.83	0.46416	D	0.99903	D	0.54964	0.969	P	0.60949	0.881	D	0.91615	0.5306	10	0.46703	T	0.11	.	11.2138	0.48815	0.0864:0.0:0.9136:0.0	.	1660	P14410	SUIS_HUMAN	N	1660	ENSP00000264382:H1660N	ENSP00000264382:H1660N	H	-	1	0	SI	166192664	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	1.182000	0.32029	1.350000	0.45770	0.655000	0.94253	CAT		PASS	0.353	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		7	217	7	217	---	---	---	---
MYNN	55892	broad.mit.edu	37	3	169501285	169501285	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr3:169501285G>T	ENST00000349841.5	+	6	2083	c.1420G>T	c.(1420-1422)Ggt>Tgt	p.G474C	MYNN_ENST00000544106.1_Missense_Mutation_p.G474C|MYNN_ENST00000356716.4_Missense_Mutation_p.G474C|MYNN_ENST00000392733.1_Missense_Mutation_p.G474C	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G474C(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			ATACATATGTGGTATTTGTGG	0.333																																						uc003fft.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1420-1422)GGT>TGT		myoneurin							120.0	136.0	131.0					3																	169501285		2203	4300	6503	SO:0001583	missense	55892					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:169501285G>T	AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.1420G>T	3.37:g.169501285G>T	ENSP00000326240:p.Gly474Cys					MYNN_uc011bpm.1_Missense_Mutation_p.G360C|MYNN_uc003ffu.2_Missense_Mutation_p.G474C|MYNN_uc003ffv.2_Missense_Mutation_p.G201C|MYNN_uc010hwo.2_Missense_Mutation_p.G474C|MYNN_uc003ffw.1_RNA	p.G474C	NM_018657	NP_061127	Q9NPC7	MYNN_HUMAN	Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		6	1849	+	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		474			C2H2-type 7.		B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Missense_Mutation	SNP	ENST00000349841.5	37	c.1420G>T	CCDS3207.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.526751	0.64860	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000392733;ENST00000544106	T;T;T;T	0.07800	3.16;3.16;3.16;3.16	5.19	5.19	0.71726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000002	T	0.24044	0.0582	L	0.45581	1.43	0.44000	D	0.996705	B;D	0.89917	0.098;1.0	B;D	0.71870	0.02;0.975	T	0.00383	-1.1774	10	0.59425	D	0.04	.	18.7121	0.91661	0.0:0.0:1.0:0.0	.	474;474	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	C	474	ENSP00000349150:G474C;ENSP00000326240:G474C;ENSP00000376492:G474C;ENSP00000440637:G474C	ENSP00000326240:G474C	G	+	1	0	MYNN	170983979	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.351000	0.52232	2.419000	0.82065	0.585000	0.79938	GGT		PASS	0.333	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1	NM_018657		6	151	6	151	---	---	---	---
PLD1	5337	broad.mit.edu	37	3	171406667	171406667	+	Splice_Site	SNP	C	C	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr3:171406667C>G	ENST00000351298.4	-	14	1465		c.e14-1		PLD1_ENST00000342215.6_Splice_Site|PLD1_ENST00000340989.4_Splice_Site|PLD1_ENST00000356327.5_Splice_Site	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific						chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.?(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GTCTCATCACCTTGAGAGGGA	0.438																																					NSCLC(149;2174 3517 34058)	uc003fhs.2																			1	Unknown(1)		lung(1)	ovary(2)|lung(1)	3						c.e14-1		phospholipase D1 isoform a	Choline(DB00122)						70.0	61.0	64.0					3																	171406667		2203	4300	6503	SO:0001630	splice_region_variant	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171406667C>G	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1339-1G>C	3.37:g.171406667C>G						PLD1_uc003fht.2_Splice_Site_p.V447_splice	p.V447_splice	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		14	1455	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)								Splice_Site	SNP	ENST00000351298.4	37	c.1339_splice	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493170	0.64186	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000342215;ENST00000340989	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3161	0.94215	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLD1	172889361	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	7.752000	0.85141	2.635000	0.89317	0.655000	0.94253	.		PASS	0.438	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662	Intron	4	60	4	60	---	---	---	---
PLD1	5337	broad.mit.edu	37	3	171427430	171427430	+	Silent	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr3:171427430G>A	ENST00000351298.4	-	10	1107	c.981C>T	c.(979-981)atC>atT	p.I327I	PLD1_ENST00000342215.6_Silent_p.I327I|PLD1_ENST00000340989.4_Silent_p.I327I|PLD1_ENST00000356327.5_Silent_p.I327I	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	327	PH.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.I327I(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CATGTTTCTGGATGAATTCTT	0.368																																					NSCLC(149;2174 3517 34058)	uc003fhs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(979-981)ATC>ATT		phospholipase D1 isoform a	Choline(DB00122)						179.0	167.0	171.0					3																	171427430		2203	4300	6503	SO:0001819	synonymous_variant	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171427430G>A	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.981C>T	3.37:g.171427430G>A						PLD1_uc003fht.2_Silent_p.I327I	p.I327I	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		10	1097	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		327			PH.			Silent	SNP	ENST00000351298.4	37	c.981C>T	CCDS3216.1																																																																																				PASS	0.368	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		23	123	23	123	---	---	---	---
TTC14	151613	broad.mit.edu	37	3	180327705	180327705	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr3:180327705G>T	ENST00000296015.4	+	12	1820	c.1688G>T	c.(1687-1689)aGg>aTg	p.R563M	TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000465625.1_3'UTR|TTC14_ENST00000382584.4_Missense_Mutation_p.R563M	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	563							RNA binding (GO:0003723)	p.R563M(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AAGCAGGATAGGTTACAGTAT	0.398																																						uc003fkk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1687-1689)AGG>ATG		tetratricopeptide repeat domain 14 isoform a							123.0	139.0	134.0					3																	180327705		2203	4299	6502	SO:0001583	missense	151613						RNA binding	g.chr3:180327705G>T	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.1688G>T	3.37:g.180327705G>T	ENSP00000296015:p.Arg563Met					TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Missense_Mutation_p.R563M	p.R563M	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		12	1820	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		563					G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.1688G>T	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118767	0.37436	.	.	ENSG00000163728	ENST00000296015;ENST00000382584	T;T	0.49432	0.78;0.78	5.92	5.05	0.67936	.	0.324841	0.36932	N	0.002326	T	0.64103	0.2568	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	0.988;1.0	P;D	0.75484	0.8;0.986	T	0.67280	-0.5710	10	0.72032	D	0.01	-9.0687	14.8766	0.70498	0.0684:0.0:0.9316:0.0	.	563;563	Q96N46-2;Q96N46	.;TTC14_HUMAN	M	563	ENSP00000296015:R563M;ENSP00000372027:R563M	ENSP00000296015:R563M	R	+	2	0	TTC14	181810399	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	6.758000	0.74929	1.506000	0.48736	0.655000	0.94253	AGG		PASS	0.398	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		9	374	9	374	---	---	---	---
ATP11B	23200	broad.mit.edu	37	3	182553841	182553841	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr3:182553841C>T	ENST00000323116.5	+	5	594	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W	ATP11B_ENST00000482794.1_3'UTR|ATP11B_ENST00000493826.1_Missense_Mutation_p.R112W	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	112					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R112W(1)		breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AGATTGGTTACGGCATAACTC	0.308																																						uc003flb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(334-336)CGG>TGG		ATPase, class VI, type 11B							112.0	111.0	111.0					3																	182553841		2203	4300	6503	SO:0001583	missense	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182553841C>T	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.334C>T	3.37:g.182553841C>T	ENSP00000321195:p.Arg112Trp					ATP11B_uc003fla.2_Missense_Mutation_p.R112W	p.R112W	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		5	591	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		112			Cytoplasmic (Potential).		Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	c.334C>T	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624660	0.66901	.	.	ENSG00000058063	ENST00000323116;ENST00000493826	D;D	0.85861	-2.04;-2.04	5.13	2.05	0.26809	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.068073	0.64402	D	0.000019	D	0.95564	0.8558	H	0.99391	4.545	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96242	0.9176	10	0.87932	D	0	.	13.8463	0.63470	0.4163:0.5837:0.0:0.0	.	112;112	Q9Y2G3;B4DKX1	AT11B_HUMAN;.	W	112	ENSP00000321195:R112W;ENSP00000419032:R112W	ENSP00000321195:R112W	R	+	1	2	ATP11B	184036535	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	1.808000	0.38912	0.479000	0.27511	0.313000	0.20887	CGG		PASS	0.308	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		30	72	30	72	---	---	---	---
EPHB3	2049	broad.mit.edu	37	3	184294818	184294818	+	Silent	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr3:184294818C>A	ENST00000330394.2	+	5	1653	c.1201C>A	c.(1201-1203)Cgg>Agg	p.R401R	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	401	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)	p.R401R(1)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GTTTGTGCCTCGGCAGCTGGG	0.627																																						uc003foz.2																			1	Substitution - coding silent(1)		lung(1)	lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11						c.(1201-1203)CGG>AGG		ephrin receptor EphB3 precursor							84.0	88.0	87.0					3																	184294818		2203	4300	6503	SO:0001819	synonymous_variant	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184294818C>A	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1201C>A	3.37:g.184294818C>A							p.R401R	NM_004443	NP_004434	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		5	1638	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		401			Fibronectin type-III 1.|Extracellular (Potential).		Q7Z740	Silent	SNP	ENST00000330394.2	37	c.1201C>A	CCDS3268.1																																																																																				PASS	0.627	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		5	161	5	161	---	---	---	---
MSX1	4487	broad.mit.edu	37	4	4864840	4864840	+	Silent	SNP	T	T	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr4:4864840T>C	ENST00000382723.4	+	2	1116	c.882T>C	c.(880-882)caT>caC	p.H294H		NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	294					activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|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 negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.H294H(1)		endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		ACACGGCCCATGTGGGCTACA	0.697																																						uc003gif.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(880-882)CAT>CAC		msh homeobox 1							10.0	13.0	12.0					4																	4864840		2089	4091	6180	SO:0001819	synonymous_variant	4487				apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity	g.chr4:4864840T>C	M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"""Homeoboxes / ANTP class : NKL subclass"""	7391	protein-coding gene	gene with protein product		142983	"""msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)"", ""msh homeobox homolog 1 (Drosophila)"""	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.882T>C	4.37:g.4864840T>C							p.H294H	NM_002448	NP_002439	P28360	MSX1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	2	1117	+			288					A0SZU5|A8K3M1|Q96NY4	Silent	SNP	ENST00000382723.4	37	c.882T>C	CCDS3378.2																																																																																				PASS	0.697	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206700.3			3	7	3	7	---	---	---	---
CPZ	8532	broad.mit.edu	37	4	8607752	8607752	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr4:8607752G>A	ENST00000360986.4	+	5	920	c.746G>A	c.(745-747)gGc>gAc	p.G249D	CPZ_ENST00000382480.2_Missense_Mutation_p.G112D|CPZ_ENST00000315782.6_Missense_Mutation_p.G238D|CPZ_ENST00000429646.2_5'UTR	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	249					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.G249D(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AACATTCATGGCAACGAGGTG	0.602																																						uc003glm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(745-747)GGC>GAC		carboxypeptidase Z isoform 1							115.0	97.0	103.0					4																	8607752		2203	4300	6503	SO:0001583	missense	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8607752G>A	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.746G>A	4.37:g.8607752G>A	ENSP00000354255:p.Gly249Asp					CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.G112D|CPZ_uc003glo.2_Missense_Mutation_p.G238D|CPZ_uc003glp.2_RNA	p.G249D	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN			5	872	+			249					O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.746G>A	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	g	19.48	3.835024	0.71373	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.15139	2.45;2.45;2.45	3.34	3.34	0.38264	Peptidase M14, carboxypeptidase A (2);	0.133505	0.50627	U	0.000115	T	0.55465	0.1922	H	0.96633	3.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.74131	-0.3764	10	0.87932	D	0	-26.7193	14.8331	0.70162	0.0:0.0:1.0:0.0	.	238;249	Q66K79-2;Q66K79	.;CBPZ_HUMAN	D	249;112;238	ENSP00000354255:G249D;ENSP00000371920:G112D;ENSP00000315074:G238D	ENSP00000315074:G238D	G	+	2	0	CPZ	8658652	1.000000	0.71417	0.976000	0.42696	0.430000	0.31655	8.489000	0.90461	1.713000	0.51359	0.461000	0.40582	GGC		PASS	0.602	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		9	16	9	16	---	---	---	---
ATP8A1	10396	broad.mit.edu	37	4	42487624	42487624	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr4:42487624T>A	ENST00000381668.5	-	25	2444	c.2213A>T	c.(2212-2214)aAt>aTt	p.N738I	ATP8A1_ENST00000264449.10_Missense_Mutation_p.N723I	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	738					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.N723I(1)|p.N738I(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AGCAAAATCATTCTCTTTCCG	0.408																																						uc003gwr.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|central_nervous_system(1)	3						c.(2212-2214)AAT>ATT		ATPase, aminophospholipid transporter (APLT),	Phosphatidylserine(DB00144)						118.0	106.0	110.0					4																	42487624		2203	4300	6503	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42487624T>A	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.2213A>T	4.37:g.42487624T>A	ENSP00000371084:p.Asn738Ile					ATP8A1_uc003gwq.2_Intron|ATP8A1_uc003gws.2_Missense_Mutation_p.N723I	p.N738I	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN			25	2445	-			738			Cytoplasmic (Potential).		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.2213A>T	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.450095	0.84101	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.63580	-0.05;-0.05	5.28	5.28	0.74379	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.75852	0.3906	M	0.62209	1.925	0.80722	D	1	D;D	0.89917	1.0;0.97	D;P	0.79784	0.993;0.806	T	0.75082	-0.3443	10	0.37606	T	0.19	.	15.5157	0.75822	0.0:0.0:0.0:1.0	.	723;738	Q32M35;Q9Y2Q0	.;AT8A1_HUMAN	I	738;723	ENSP00000371084:N738I;ENSP00000264449:N723I	ENSP00000264449:N723I	N	-	2	0	ATP8A1	42182381	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	5.890000	0.69774	2.121000	0.65114	0.533000	0.62120	AAT		PASS	0.408	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		14	15	14	15	---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79403008	79403008	+	Missense_Mutation	SNP	G	G	C	rs369335635		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr4:79403008G>C	ENST00000264895.6	+	57	8934	c.8494G>C	c.(8494-8496)Gca>Cca	p.A2832P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2828	Calx-beta 3.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.A2833P(1)|p.A2832P(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTCTACTTTCGCATCTGTCTG	0.488																																						uc003hlb.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(5)	5						c.(8494-8496)GCA>CCA		Fraser syndrome 1							196.0	199.0	198.0					4																	79403008		1935	4134	6069	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79403008G>C	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8494G>C	4.37:g.79403008G>C	ENSP00000264895:p.Ala2832Pro						p.A2832P	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			57	8934	+			2827			Calx-beta 3.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.8494G>C	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.48|14.48	2.548799|2.548799	0.45383|0.45383	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.30981|.	1.51|.	5.57|5.57	4.41|4.41	0.53225|0.53225	.|.	0.170111|.	0.51477|.	D|.	0.000095|.	T|T	0.63920|0.63920	0.2552|0.2552	M|M	0.67569|0.67569	2.06|2.06	0.80722|0.80722	D|D	1|1	B|.	0.09022|.	0.002|.	B|.	0.12837|.	0.008|.	T|T	0.61623|0.61623	-0.7025|-0.7025	10|5	0.72032|.	D|.	0.01|.	.|.	9.6236|9.6236	0.39737|0.39737	0.8596:0.0:0.1404:0.0|0.8596:0.0:0.1404:0.0	.|.	2832|.	E9PHH6|.	.|.	P|P	2832|1060	ENSP00000264895:A2832P|.	ENSP00000264895:A2832P|.	A|R	+|+	1|2	0|0	FRAS1|FRAS1	79622032|79622032	0.947000|0.947000	0.32204|0.32204	0.996000|0.996000	0.52242|0.52242	0.423000|0.423000	0.31445|0.31445	2.172000|2.172000	0.42463|0.42463	0.947000|0.947000	0.37659|0.37659	-0.260000|-0.260000	0.10688|0.10688	GCA|CGC		PASS	0.488	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				50	88	50	88	---	---	---	---
SMARCAD1	56916	broad.mit.edu	37	4	95162117	95162117	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr4:95162117T>A	ENST00000354268.4	+	6	738	c.665T>A	c.(664-666)tTt>tAt	p.F222Y	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.F222Y			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	222					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.F222Y(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GAAGATGAATTTAATGATGAT	0.358																																						uc003htc.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(664-666)TTT>TAT		SWI/SNF-related, matrix-associated							62.0	64.0	63.0					4																	95162117		2203	4299	6502	SO:0001583	missense	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95162117T>A	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.665T>A	4.37:g.95162117T>A	ENSP00000346217:p.Phe222Tyr					SMARCAD1_uc003htb.3_Missense_Mutation_p.F222Y|SMARCAD1_uc003htd.3_Missense_Mutation_p.F222Y|SMARCAD1_uc010ila.2_Missense_Mutation_p.F85Y	p.F222Y	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	6	920	+			222					B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	c.665T>A	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	T	11.69	1.714173	0.30413	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000536267;ENST00000354268	T;T;T	0.05855	3.38;3.38;3.38	5.11	-4.58	0.03410	.	1.040480	0.07626	N	0.927836	T	0.02230	0.0069	N	0.08118	0	0.26446	N	0.975682	B;B	0.11235	0.002;0.004	B;B	0.16722	0.007;0.016	T	0.46693	-0.9173	10	0.02654	T	1	-3.1595	4.2412	0.10648	0.5441:0.1706:0.0:0.2853	.	222;222	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	Y	222	ENSP00000351947:F222Y;ENSP00000415576:F222Y;ENSP00000346217:F222Y	ENSP00000346217:F222Y	F	+	2	0	SMARCAD1	95381140	0.484000	0.25964	0.986000	0.45419	0.994000	0.84299	-0.588000	0.05774	-0.285000	0.09089	0.477000	0.44152	TTT		PASS	0.358	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		8	11	8	11	---	---	---	---
MANBA	4126	broad.mit.edu	37	4	103644062	103644062	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr4:103644062T>C	ENST00000226578.4	-	4	614	c.515A>G	c.(514-516)cAg>cGg	p.Q172R	MANBA_ENST00000505239.1_Intron	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	172					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)	p.Q172R(1)		cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TTCACCCTTCTGCACAAGTGG	0.512																																						uc003hwg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(514-516)CAG>CGG		mannosidase, beta A, lysosomal precursor							129.0	116.0	120.0					4																	103644062		2203	4300	6503	SO:0001583	missense	4126				carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding	g.chr4:103644062T>C		CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.515A>G	4.37:g.103644062T>C	ENSP00000226578:p.Gln172Arg					MANBA_uc011ces.1_Intron	p.Q172R	NM_005908	NP_005899	O00462	MANBA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)	4	615	-		Hepatocellular(203;0.217)	172					Q96BC3|Q9NYX9	Missense_Mutation	SNP	ENST00000226578.4	37	c.515A>G	CCDS3658.1	.	.	.	.	.	.	.	.	.	.	T	10.46	1.356604	0.24598	.	.	ENSG00000109323	ENST00000226578	T	0.73363	-0.74	4.45	2.0	0.26442	Galactose-binding domain-like (1);Glycoside hydrolase, family 2, N-terminal (1);	0.058074	0.64402	N	0.000001	T	0.77478	0.4136	L	0.50919	1.6	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	T	0.71108	-0.4688	10	0.21014	T	0.42	-1.6126	8.6531	0.34046	0.0:0.1598:0.0:0.8402	.	172	O00462	MANBA_HUMAN	R	172	ENSP00000226578:Q172R	ENSP00000226578:Q172R	Q	-	2	0	MANBA	103863108	1.000000	0.71417	0.667000	0.29798	0.014000	0.08584	6.558000	0.73942	0.337000	0.23665	-0.256000	0.11100	CAG		PASS	0.512	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2			19	19	19	19	---	---	---	---
SLC9B1	150159	broad.mit.edu	37	4	103822328	103822328	+	Silent	SNP	G	G	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr4:103822328G>C	ENST00000296422.7	-	12	1635	c.1494C>G	c.(1492-1494)cgC>cgG	p.R498R	SLC9B1_ENST00000512651.2_5'UTR|SLC9B1_ENST00000394789.3_Intron	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	498					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.R498R(1)									GATCATAATGGCGTGTAAGCA	0.378																																						uc003hww.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1492-1494)CGC>CGG		Na+/H+ exchanger domain containing 1 isoform 1							85.0	88.0	87.0					4																	103822328		1762	3390	5152	SO:0001819	synonymous_variant	150159					integral to membrane	solute:hydrogen antiporter activity	g.chr4:103822328G>C	AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.1494C>G	4.37:g.103822328G>C						NHEDC1_uc003hwu.2_Intron|NHEDC1_uc010ilm.2_Intron|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Silent_p.R271R	p.R498R	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)	12	1616	-		Hepatocellular(203;0.217)	498					A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Silent	SNP	ENST00000296422.7	37	c.1494C>G	CCDS34041.1																																																																																				PASS	0.378	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		5	127	5	127	---	---	---	---
ENPEP	2028	broad.mit.edu	37	4	111482595	111482595	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr4:111482595G>T	ENST00000265162.5	+	20	3097	c.2755G>T	c.(2755-2757)Gga>Tga	p.G919*	ENPEP_ENST00000504100.1_3'UTR	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	919					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G919*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		TCCACAAGCTGGAGCAGGAGA	0.358																																						uc003iab.3																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(1)|breast(1)	5						c.(2755-2757)GGA>TGA		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						80.0	80.0	80.0					4																	111482595		2203	4300	6503	SO:0001587	stop_gained	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111482595G>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.2755G>T	4.37:g.111482595G>T	ENSP00000265162:p.Gly919*						p.G919*	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	20	3097	+		Hepatocellular(203;0.217)	919			Extracellular (Potential).		Q504U2	Nonsense_Mutation	SNP	ENST00000265162.5	37	c.2755G>T	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	45	11.338617	0.99548	.	.	ENSG00000138792	ENST00000265162	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.5545	0.91079	0.0:0.0:1.0:0.0	.	.	.	.	X	919	.	ENSP00000265162:G919X	G	+	1	0	ENPEP	111702044	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.445000	0.90326	2.547000	0.85894	0.655000	0.94253	GGA		PASS	0.358	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			4	28	4	28	---	---	---	---
UGT8	7368	broad.mit.edu	37	4	115585164	115585164	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr4:115585164G>T	ENST00000310836.6	+	3	1358	c.836G>T	c.(835-837)tGg>tTg	p.W279L	UGT8_ENST00000394511.3_Missense_Mutation_p.W279L	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	279					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)	p.W279L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		CTCCAAAGATGGGTAAATGGT	0.388																																						uc003ibs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(835-837)TGG>TTG		UDP-galactose-ceramide galactosyltransferase 8							163.0	151.0	155.0					4																	115585164		2203	4300	6503	SO:0001583	missense	7368				central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	g.chr4:115585164G>T	AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.836G>T	4.37:g.115585164G>T	ENSP00000311648:p.Trp279Leu					UGT8_uc003ibt.2_Missense_Mutation_p.W279L|UGT8_uc011cge.1_RNA	p.W279L	NM_001128174	NP_001121646	Q16880	CGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000632)	3	1358	+		Ovarian(17;0.156)	279					B3KXU7|O00196	Missense_Mutation	SNP	ENST00000310836.6	37	c.836G>T	CCDS3705.1	.	.	.	.	.	.	.	.	.	.	G	33	5.256583	0.95336	.	.	ENSG00000174607	ENST00000310836;ENST00000394511	T;T	0.10382	2.88;2.88	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.19366	0.0465	L	0.33093	0.98	0.80722	D	1	P	0.38167	0.621	P	0.48873	0.593	T	0.00710	-1.1599	10	0.72032	D	0.01	.	19.7319	0.96186	0.0:0.0:1.0:0.0	.	279	Q16880	CGT_HUMAN	L	279	ENSP00000311648:W279L;ENSP00000378019:W279L	ENSP00000311648:W279L	W	+	2	0	UGT8	115804613	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.290000	0.78711	2.668000	0.90789	0.655000	0.94253	TGG		PASS	0.388	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360		34	47	34	47	---	---	---	---
ADAD1	132612	broad.mit.edu	37	4	123317446	123317446	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr4:123317446T>C	ENST00000296513.2	+	7	823	c.638T>C	c.(637-639)gTt>gCt	p.V213A	ADAD1_ENST00000388724.2_Missense_Mutation_p.V213A|ADAD1_ENST00000388725.2_Missense_Mutation_p.V195A|ADAD1_ENST00000492454.1_3'UTR	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	213					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)	p.V213A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCACAGATCGTTAAAGAAAGA	0.308																																						uc003ieo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(637-639)GTT>GCT		adenosine deaminase domain containing 1							58.0	64.0	62.0					4																	123317446		2201	4289	6490	SO:0001583	missense	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123317446T>C	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.638T>C	4.37:g.123317446T>C	ENSP00000296513:p.Val213Ala					ADAD1_uc003iep.2_Missense_Mutation_p.V213A|ADAD1_uc003ieq.2_Missense_Mutation_p.V195A	p.V213A	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN			7	870	+			213					A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	37	c.638T>C	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.053568	0.55218	.	.	ENSG00000164113	ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	T;T;T	0.37915	1.17;1.17;1.19	6.05	6.05	0.98169	Adenosine deaminase/editase (1);	0.173472	0.50627	D	0.000108	T	0.29716	0.0742	L	0.40543	1.245	0.47407	D	0.999417	B;P	0.42078	0.125;0.77	B;B	0.33890	0.172;0.101	T	0.08513	-1.0718	10	0.51188	T	0.08	-25.2401	15.5826	0.76455	0.0:0.0:0.0:1.0	.	213;213	Q96M93-2;Q96M93	.;ADAD1_HUMAN	A	213;213;213;195	ENSP00000296513:V213A;ENSP00000373376:V213A;ENSP00000373377:V195A	ENSP00000296513:V213A	V	+	2	0	ADAD1	123536896	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.045000	0.49838	2.323000	0.78572	0.533000	0.62120	GTT		PASS	0.308	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		13	20	13	20	---	---	---	---
TKTL2	84076	broad.mit.edu	37	4	164393684	164393684	+	Silent	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr4:164393684G>A	ENST00000280605.3	-	1	1363	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	401						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.F401F(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGAGCTGATCGAATGCTCTAG	0.488																																						uc003iqp.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(1201-1203)TTC>TTT		transketolase-like 2							52.0	54.0	53.0					4																	164393684		2203	4300	6503	SO:0001819	synonymous_variant	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164393684G>A	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1203C>T	4.37:g.164393684G>A							p.F401F	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			1	1364	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	401					A4FVB4|Q8NCT0|Q96M82	Silent	SNP	ENST00000280605.3	37	c.1203C>T	CCDS3805.1																																																																																				PASS	0.488	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		11	14	11	14	---	---	---	---
MORF4	10934	broad.mit.edu	37	4	174537470	174537470	+	IGR	SNP	A	A	T	rs200939082		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr4:174537470A>T								RP11-475B2.1 (21763 upstream) : RP11-161D15.2 (280074 downstream)																							TAATTTGCATAGTCCTCAAGA	0.393																																						uc011cke.1																			0					0						c.(325-327)TAT>AAT		mortality factor 4							192.0	199.0	196.0					4																	174537470		2202	4300	6502	SO:0001628	intergenic_variant	10934							g.chr4:174537470A>T																													4.37:g.174537470A>T							p.Y109N	NM_006792	NP_006783				all cancers(43;1.88e-18)|Epithelial(43;1.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	1	325	-		Prostate(90;0.00201)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0765)|all_hematologic(60;0.107)							Missense_Mutation	SNP		37	c.325T>A																																																																																				0	PASS	0.393									57	75	57	75	---	---	---	---
GPM6A	2823	broad.mit.edu	37	4	176622806	176622806	+	Silent	SNP	C	C	T	rs144181937		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr4:176622806C>T	ENST00000280187.7	-	3	195	c.150G>A	c.(148-150)gcG>gcA	p.A50A	GPM6A_ENST00000506894.1_Silent_p.A39A|GPM6A_ENST00000515090.1_Silent_p.A43A|GPM6A_ENST00000393658.2_Silent_p.A50A	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	50					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)	p.A50A(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		TTCCAGAAAGCGCTTCATGAC	0.493																																						uc003iuf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(148-150)GCG>GCA		glycoprotein M6A isoform 2		C	,,	0,4406		0,0,2203	156.0	145.0	149.0		150,150,117	-12.0	0.0	4	dbSNP_134	149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	GPM6A	NM_005277.3,NM_201591.1,NM_201592.1	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	50/279,50/279,39/268	176622806	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2823					cell surface|integral to membrane		g.chr4:176622806C>T		CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.150G>A	4.37:g.176622806C>T						GPM6A_uc011ckj.1_Silent_p.A43A|GPM6A_uc003iug.2_Silent_p.A50A|GPM6A_uc003iuh.2_Silent_p.A39A	p.A50A	NM_201591	NP_963885	P51674	GPM6A_HUMAN		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)	2	954	-		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	50			Extracellular (Potential).		B7Z642|E9PHI5|Q92602	Silent	SNP	ENST00000280187.7	37	c.150G>A	CCDS3824.1																																																																																				PASS	0.493	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			26	44	26	44	---	---	---	---
NSUN2	54888	broad.mit.edu	37	5	6620317	6620317	+	Silent	SNP	G	G	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr5:6620317G>C	ENST00000264670.6	-	7	1028	c.717C>G	c.(715-717)gtC>gtG	p.V239V	NSUN2_ENST00000505264.1_5'UTR|NSUN2_ENST00000506139.1_Silent_p.V204V|NSUN2_ENST00000539938.1_Silent_p.V3V	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	239					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)	p.V239V(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CATCATGGTTGACCACCATGA	0.507																																						uc003jdu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(715-717)GTC>GTG		NOL1/NOP2/Sun domain family, member 2							103.0	102.0	103.0					5																	6620317		2203	4300	6503	SO:0001819	synonymous_variant	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6620317G>C	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.717C>G	5.37:g.6620317G>C						NSUN2_uc003jdt.2_Silent_p.V3V|NSUN2_uc011cmk.1_Silent_p.V204V|NSUN2_uc003jdv.2_Silent_p.V3V	p.V239V	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN			7	782	-			239					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Silent	SNP	ENST00000264670.6	37	c.717C>G	CCDS3869.1																																																																																				PASS	0.507	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		11	83	11	83	---	---	---	---
MARCH6	10299	broad.mit.edu	37	5	10382034	10382034	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr5:10382034G>T	ENST00000274140.5	+	4	445	c.313G>T	c.(313-315)Gga>Tga	p.G105*	MARCH6_ENST00000449913.2_Intron|MARCH6_ENST00000503788.1_Intron	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	105					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G105*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TGCATGGTTGGGAGTTGTTCC	0.363																																						uc003jet.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)	2						c.(313-315)GGA>TGA		membrane-associated ring finger (C3HC4) 6							330.0	312.0	318.0					5																	10382034		2203	4300	6503	SO:0001587	stop_gained	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10382034G>T	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.313G>T	5.37:g.10382034G>T	ENSP00000274140:p.Gly105*					MARCH6_uc011cmu.1_Intron|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Intron	p.G105*	NM_005885	NP_005876	O60337	MARH6_HUMAN			4	496	+			105			Helical; (Potential).		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Nonsense_Mutation	SNP	ENST00000274140.5	37	c.313G>T	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	37	6.567106	0.97671	.	.	ENSG00000145495	ENST00000274140	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-16.5307	19.3267	0.94265	0.0:0.0:1.0:0.0	.	.	.	.	X	105	.	ENSP00000274140:G105X	G	+	1	0	MARCH6	10435034	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.345000	0.97053	2.565000	0.86533	0.591000	0.81541	GGA		PASS	0.363	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		7	170	7	170	---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11159741	11159741	+	Silent	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr5:11159741C>T	ENST00000304623.8	-	12	2295	c.2106G>A	c.(2104-2106)cgG>cgA	p.R702R	CTNND2_ENST00000359640.2_Silent_p.R702R|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Silent_p.R611R|CTNND2_ENST00000458100.2_Silent_p.R269R|CTNND2_ENST00000503622.1_Silent_p.R365R	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	702					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R702R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCTGTATTTTCCGATCATCCT	0.552																																						uc003jfa.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(2104-2106)CGG>CGA		catenin (cadherin-associated protein), delta 2							199.0	170.0	180.0					5																	11159741		2203	4300	6503	SO:0001819	synonymous_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11159741C>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2106G>A	5.37:g.11159741C>T						CTNND2_uc010itt.2_Silent_p.R611R|CTNND2_uc011cmy.1_Silent_p.R365R|CTNND2_uc011cmz.1_Silent_p.R269R|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.R269R	p.R702R	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			12	2251	-			702			ARM 5.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.2106G>A	CCDS3881.1																																																																																				PASS	0.552	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		44	58	44	58	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26902777	26902777	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr5:26902777G>T	ENST00000231021.4	-	7	1233	c.1061C>A	c.(1060-1062)cCt>cAt	p.P354H		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	354	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P354H(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCGTGGATCAGGGTGAGTGTT	0.358																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(1060-1062)CCT>CAT		cadherin 9, type 2 preproprotein							98.0	96.0	97.0					5																	26902777		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26902777G>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1061C>A	5.37:g.26902777G>T	ENSP00000231021:p.Pro354His						p.P354H	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			7	1230	-			354			Cadherin 3.|Extracellular (Potential).		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1061C>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458031	0.63401	.	.	ENSG00000113100	ENST00000231021	T	0.38401	1.14	5.62	3.84	0.44239	Cadherin (4);Cadherin-like (1);	0.295705	0.32970	N	0.005428	T	0.39036	0.1063	L	0.41632	1.29	0.31212	N	0.698536	B	0.29341	0.242	P	0.47981	0.563	T	0.46596	-0.9180	9	.	.	.	.	6.111	0.20100	0.3257:0.0:0.6743:0.0	.	354	Q9ULB4	CADH9_HUMAN	H	354	ENSP00000231021:P354H	.	P	-	2	0	CDH9	26938534	0.022000	0.18835	0.985000	0.45067	0.991000	0.79684	1.084000	0.30828	1.379000	0.46325	0.650000	0.86243	CCT		PASS	0.358	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		18	29	18	29	---	---	---	---
DROSHA	29102	broad.mit.edu	37	5	31521266	31521266	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr5:31521266T>G	ENST00000511367.2	-	5	1155	c.911A>C	c.(910-912)gAa>gCa	p.E304A	DROSHA_ENST00000442743.1_Missense_Mutation_p.E304A|DROSHA_ENST00000513349.1_Missense_Mutation_p.E304A|DROSHA_ENST00000344624.3_Missense_Mutation_p.E304A	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	304	Arg-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.E304A(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GTAGGACCTTTCCAGAGATGG	0.413																																						uc003jhg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(910-912)GAA>GCA		ribonuclease III, nuclear isoform 1							277.0	257.0	263.0					5																	31521266		1905	4115	6020	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31521266T>G	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.911A>C	5.37:g.31521266T>G	ENSP00000425979:p.Glu304Ala					RNASEN_uc003jhh.2_Missense_Mutation_p.E304A|RNASEN_uc003jhi.2_Missense_Mutation_p.E304A|RNASEN_uc010iui.1_Intron	p.E304A	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN			5	1270	-			304			Arg-rich.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.911A>C	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.958366	0.74016	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000382188	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	6.17	6.17	0.99709	.	0.093945	0.64402	D	0.000001	T	0.34193	0.0889	N	0.19112	0.55	0.48632	D	0.999681	B;B	0.31318	0.155;0.319	B;B	0.23716	0.048;0.048	T	0.11518	-1.0584	10	0.37606	T	0.19	-25.7275	16.8222	0.85835	0.0:0.0:0.0:1.0	.	304;304	E7EMP9;Q9NRR4	.;RNC_HUMAN	A	304;304;304;304;297	ENSP00000425979:E304A;ENSP00000339845:E304A;ENSP00000409335:E304A;ENSP00000424161:E304A	ENSP00000339845:E304A	E	-	2	0	DROSHA	31557023	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.153000	0.71819	2.371000	0.80710	0.533000	0.62120	GAA		PASS	0.413	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		58	164	58	164	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41018458	41018458	+	Silent	SNP	C	C	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr5:41018458C>G	ENST00000399564.4	-	27	3198	c.2748G>C	c.(2746-2748)ctG>ctC	p.L916L	MROH2B_ENST00000506092.2_Silent_p.L471L	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	916								p.L916L(1)									TATCATTTGTCAGCACTTTCG	0.403																																						uc003jmj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(2746-2748)CTG>CTC		HEAT repeat family member 7B2							101.0	92.0	95.0					5																	41018458		1875	4104	5979	SO:0001819	synonymous_variant	133558						binding	g.chr5:41018458C>G		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2748G>C	5.37:g.41018458C>G						HEATR7B2_uc003jmi.3_Silent_p.L471L	p.L916L	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			27	3238	-			916					Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	c.2748G>C	CCDS47202.1																																																																																				PASS	0.403	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		11	18	11	18	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45267343	45267343	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr5:45267343A>T	ENST00000303230.4	-	7	1688	c.1631T>A	c.(1630-1632)cTg>cAg	p.L544Q		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	544					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.L544Q(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCCTTTGGTCAGCAGGCAAAT	0.393																																						uc003jok.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1630-1632)CTG>CAG		hyperpolarization activated cyclic							97.0	91.0	93.0					5																	45267343		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45267343A>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1631T>A	5.37:g.45267343A>T	ENSP00000307342:p.Leu544Gln						p.L544Q	NM_021072	NP_066550	O60741	HCN1_HUMAN			7	1656	-			544			cAMP.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.1631T>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.799833	0.90538	.	.	ENSG00000164588	ENST00000303230	D	0.95069	-3.6	5.82	5.82	0.92795	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.51477	D	0.000087	D	0.97983	0.9336	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99104	1.0844	10	0.87932	D	0	.	16.1726	0.81828	1.0:0.0:0.0:0.0	.	544	O60741	HCN1_HUMAN	Q	544	ENSP00000307342:L544Q	ENSP00000307342:L544Q	L	-	2	0	HCN1	45303100	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.232000	0.73038	0.482000	0.46254	CTG		PASS	0.393	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		18	48	18	48	---	---	---	---
GPBP1	65056	broad.mit.edu	37	5	56557016	56557016	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr5:56557016G>T	ENST00000506184.2	+	11	2275	c.1170G>T	c.(1168-1170)aaG>aaT	p.K390N	GPBP1_ENST00000264779.6_Missense_Mutation_p.K397N|GPBP1_ENST00000454432.2_Missense_Mutation_p.K410N|GPBP1_ENST00000424459.3_Missense_Mutation_p.K410N|GPBP1_ENST00000538707.1_Missense_Mutation_p.K397N|GPBP1_ENST00000514387.2_Missense_Mutation_p.K219N|GPBP1_ENST00000511209.1_Missense_Mutation_p.K382N			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	390					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K390N(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		GATTGTTAAAGGAAATGGGCT	0.358																																						uc003jrh.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(1168-1170)AAG>AAT		GC-rich promoter binding protein 1 isoform 1							133.0	135.0	135.0					5																	56557016		2203	4299	6502	SO:0001583	missense	65056				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:56557016G>T		CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.1170G>T	5.37:g.56557016G>T	ENSP00000421202:p.Lys390Asn					GPBP1_uc010iwg.2_Missense_Mutation_p.K410N|GPBP1_uc003jri.3_Missense_Mutation_p.K219N|GPBP1_uc003jrj.3_Missense_Mutation_p.K382N|GPBP1_uc003jrk.3_Missense_Mutation_p.K397N|GPBP1_uc003jrl.3_RNA	p.K390N	NM_022913	NP_075064	Q86WP2	GPBP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)	11	2444	+		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)	390					A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Missense_Mutation	SNP	ENST00000506184.2	37	c.1170G>T	CCDS34162.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565122	0.65651	.	.	ENSG00000062194	ENST00000424459;ENST00000514387;ENST00000506184;ENST00000454432;ENST00000511209;ENST00000264779;ENST00000538707	T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58	5.81	3.66	0.41972	.	2.381950	0.01856	N	0.036291	T	0.72700	0.3493	M	0.65975	2.015	0.44048	D	0.996789	D;D;D;D	0.89917	1.0;0.997;0.994;0.99	D;P;P;P	0.83275	0.996;0.871;0.827;0.844	T	0.46596	-0.9180	10	0.87932	D	0	19.8715	8.045	0.30545	0.3499:0.0:0.6501:0.0	.	410;397;382;390	D4PHA4;Q86WP2-2;Q86WP2-3;Q86WP2	.;.;.;GPBP1_HUMAN	N	410;219;390;410;382;397;397	ENSP00000401596:K410N;ENSP00000421709:K219N;ENSP00000421202:K390N;ENSP00000403522:K410N;ENSP00000422337:K382N;ENSP00000264779:K397N;ENSP00000440090:K397N	ENSP00000264779:K397N	K	+	3	2	GPBP1	56592773	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.076000	0.41548	0.549000	0.28973	0.655000	0.94253	AAG		PASS	0.358	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374496.1	NM_022913		5	69	5	69	---	---	---	---
IPO11	51194	broad.mit.edu	37	5	61923053	61923053	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr5:61923053G>A	ENST00000325324.6	+	30	3005	c.2836G>A	c.(2836-2838)Gag>Aag	p.E946K	IPO11_ENST00000512177.1_3'UTR|IPO11_ENST00000409534.1_Missense_Mutation_p.E65K|IPO11_ENST00000409296.3_Missense_Mutation_p.E986K	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	946					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.E946K(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		GGCACAGCAGGAGATGCTAGG	0.502																																						uc003jtc.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)	4						c.(2836-2838)GAG>AAG		Ran binding protein 11 isoform 2							126.0	123.0	124.0					5																	61923053		2203	4300	6503	SO:0001583	missense	51194					cytoplasm|nucleus	protein binding	g.chr5:61923053G>A	AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.2836G>A	5.37:g.61923053G>A	ENSP00000316651:p.Glu946Lys					IPO11_uc011cqr.1_Missense_Mutation_p.E986K|IPO11_uc010iwr.2_3'UTR|IPO11_uc003jte.2_Missense_Mutation_p.E65K	p.E946K	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	30	3026	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)	946					A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	ENST00000325324.6	37	c.2836G>A	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	G	6.755	0.508102	0.12883	.	.	ENSG00000086200	ENST00000325324;ENST00000409296;ENST00000409534	T;T;T	0.66638	-0.22;-0.22;-0.22	4.69	3.83	0.44106	Armadillo-like helical (1);Armadillo-type fold (1);	0.279907	0.35124	N	0.003433	T	0.48554	0.1506	N	0.22421	0.69	0.42460	D	0.992789	B;B	0.20988	0.05;0.017	B;B	0.23716	0.048;0.021	T	0.37526	-0.9702	10	0.07030	T	0.85	.	12.8627	0.57922	0.079:0.0:0.9209:0.0	.	986;946	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	K	946;986;65	ENSP00000316651:E946K;ENSP00000386992:E986K;ENSP00000387039:E65K	ENSP00000316651:E946K	E	+	1	0	IPO11	61958809	1.000000	0.71417	0.988000	0.46212	0.891000	0.51852	4.061000	0.57485	1.198000	0.43158	0.557000	0.71058	GAG		PASS	0.502	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338		14	45	14	45	---	---	---	---
SREK1	140890	broad.mit.edu	37	5	65470820	65470820	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr5:65470820A>G	ENST00000380918.3	+	11	1843	c.1183A>G	c.(1183-1185)Aca>Gca	p.T395A	SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000334121.6_Missense_Mutation_p.T511A	NM_139168.3	NP_631907.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	395	Arg/Glu/Lys/Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.T511A(1)|p.T395A(1)		breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						ATCGCCAAGAACATCAAAAAC	0.393																																					GBM(10;31 347 27684 38976 41583)	uc003juo.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1183-1185)ACA>GCA		splicing factor, arginine/serine-rich 12 isoform							78.0	75.0	76.0					5																	65470820		2203	4300	6503	SO:0001583	missense	140890				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding	g.chr5:65470820A>G	AF459094	CCDS3991.1, CCDS43323.1, CCDS75253.1	5q11.2-q12.1	2013-02-12	2010-09-08	2010-09-08	ENSG00000153914	ENSG00000153914		"""RNA binding motif (RRM) containing"""	17882	protein-coding gene	gene with protein product	"""serine-arginine-rich splicing regulatory protein 508"""	609268	"""splicing factor, arginine/serine-rich 12"""	SFRS12		12043562	Standard	NM_001077199		Approved	DKFZp564B176, SRrp86, SRrp508	uc003jun.4	Q8WXA9	OTTHUMG00000097809	ENST00000380918.3:c.1183A>G	5.37:g.65470820A>G	ENSP00000370305:p.Thr395Ala					SFRS12_uc003jun.2_Missense_Mutation_p.T511A|SFRS12_uc010iwy.2_Missense_Mutation_p.T395A	p.T395A	NM_139168	NP_631907	Q8WXA9	SREK1_HUMAN		Lung(70;0.00449)	11	1843	+		Lung NSC(167;9.34e-06)|Prostate(74;0.00187)|Ovarian(174;0.0545)|Breast(144;0.0928)|Colorectal(97;0.234)	395			Arg/Glu/Lys/Ser-rich.		A4FTW3|Q2M1J0|Q86X37	Missense_Mutation	SNP	ENST00000380918.3	37	c.1183A>G	CCDS3991.1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.211070	0.39102	.	.	ENSG00000153914	ENST00000334121;ENST00000380918	T;T	0.21734	1.99;2.96	5.97	0.984	0.19773	.	0.448691	0.25903	N	0.027545	T	0.08133	0.0203	N	0.14661	0.345	0.22918	N	0.998561	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.34750	-0.9816	10	0.09084	T	0.74	.	3.8017	0.08761	0.553:0.0:0.2028:0.2442	.	395;511	Q8WXA9;Q8WXA9-2	SREK1_HUMAN;.	A	511;395	ENSP00000334538:T511A;ENSP00000370305:T395A	ENSP00000334538:T511A	T	+	1	0	SREK1	65506576	0.989000	0.36119	0.998000	0.56505	0.577000	0.36160	0.273000	0.18662	0.151000	0.19162	0.482000	0.46254	ACA		PASS	0.393	SREK1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381118.1	NM_001077199		6	20	6	20	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82841392	82841392	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr5:82841392G>T	ENST00000265077.3	+	9	9867	c.9302G>T	c.(9301-9303)gGa>gTa	p.G3101V	VCAN_ENST00000502527.2_Missense_Mutation_p.G360V|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.G2114V|VCAN_ENST00000342785.4_Missense_Mutation_p.G1347V|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000512590.2_Missense_Mutation_p.G1299V|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3101	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.G3101V(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TGCCTTAACGGAGGCACCTGT	0.458																																						uc003kii.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(9301-9303)GGA>GTA		versican isoform 1 precursor							237.0	226.0	230.0					5																	82841392		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82841392G>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9302G>T	5.37:g.82841392G>T	ENSP00000265077:p.Gly3101Val					VCAN_uc003kij.3_Missense_Mutation_p.G2114V|VCAN_uc010jau.2_Missense_Mutation_p.G1347V|VCAN_uc003kik.3_Missense_Mutation_p.G360V|VCAN_uc003kil.3_Missense_Mutation_p.G1765V	p.G3101V	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	9	9658	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	3101			EGF-like 1.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.9302G>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616679	0.87359	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000502527	D;D;D;D;D	0.99766	-3.43;-3.43;-6.69;-6.69;-2.09	5.83	5.83	0.93111	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.56097	D	0.000023	D	0.99876	0.9941	H	0.96333	3.805	0.80722	D	1	D;P;D;D	0.89917	1.0;0.905;0.984;1.0	D;B;D;D	0.97110	1.0;0.359;0.975;1.0	D	0.96799	0.9588	10	0.87932	D	0	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	1347;360;2114;3101	P13611-3;P13611-4;P13611-2;P13611	.;.;.;CSPG2_HUMAN	V	3101;2114;1347;1299;360	ENSP00000265077:G3101V;ENSP00000340062:G2114V;ENSP00000342768:G1347V;ENSP00000425959:G1299V;ENSP00000421362:G360V	ENSP00000265077:G3101V	G	+	2	0	VCAN	82877148	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	7.132000	0.77251	2.769000	0.95229	0.655000	0.94253	GGA		PASS	0.458	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		82	152	82	152	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82875859	82875859	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr5:82875859G>T	ENST00000265077.3	+	14	10506	c.9941G>T	c.(9940-9942)cGt>cTt	p.R3314L	VCAN_ENST00000502527.2_Missense_Mutation_p.R573L|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.R2327L|VCAN_ENST00000342785.4_Missense_Mutation_p.R1560L|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000512590.2_Missense_Mutation_p.R1512L	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3314	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.R3314L(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ATGAAACCTCGTTATGAAATC	0.423																																						uc003kii.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(9940-9942)CGT>CTT		versican isoform 1 precursor							136.0	131.0	133.0					5																	82875859		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82875859G>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9941G>T	5.37:g.82875859G>T	ENSP00000265077:p.Arg3314Leu					VCAN_uc003kij.3_Missense_Mutation_p.R2327L|VCAN_uc010jau.2_Missense_Mutation_p.R1560L|VCAN_uc003kik.3_Missense_Mutation_p.R573L|VCAN_uc003kil.3_Missense_Mutation_p.R1978L	p.R3314L	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	14	10297	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	3314			Sushi.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.9941G>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468980	0.84533	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000502527	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	6.03	6.03	0.97812	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.56097	D	0.000024	T	0.81941	0.4929	M	0.80982	2.52	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.976;1.0	D;D;D;D	0.97110	0.999;0.998;0.944;1.0	T	0.82621	-0.0367	10	0.87932	D	0	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1560;573;2327;3314	P13611-3;P13611-4;P13611-2;P13611	.;.;.;CSPG2_HUMAN	L	3314;2327;1560;1512;573	ENSP00000265077:R3314L;ENSP00000340062:R2327L;ENSP00000342768:R1560L;ENSP00000425959:R1512L;ENSP00000421362:R573L	ENSP00000265077:R3314L	R	+	2	0	VCAN	82911615	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.972000	0.88022	2.861000	0.98227	0.655000	0.94253	CGT		PASS	0.423	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		19	64	19	64	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90074906	90074906	+	Silent	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr5:90074906C>A	ENST00000405460.2	+	64	13170	c.13074C>A	c.(13072-13074)ctC>ctA	p.L4358L	GPR98_ENST00000425867.2_5'Flank	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4358					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L4358L(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGGTGGAACTCCAGGGAAGGT	0.398																																						uc003kju.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(13072-13074)CTC>CTA		G protein-coupled receptor 98 precursor							24.0	23.0	23.0					5																	90074906		1824	4090	5914	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90074906C>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.13074C>A	5.37:g.90074906C>A						GPR98_uc003kjt.2_Silent_p.L2064L|GPR98_uc003kjw.2_5'Flank	p.L4358L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	64	13170	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4358			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.13074C>A	CCDS47246.1																																																																																				PASS	0.398	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		16	27	16	27	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127614475	127614475	+	Silent	SNP	G	G	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr5:127614475G>C	ENST00000508053.1	-	63	8171	c.7197C>G	c.(7195-7197)tcC>tcG	p.S2399S	FBN2_ENST00000262464.4_Silent_p.S2399S			P35556	FBN2_HUMAN	fibrillin 2	2399	TB 9.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.S2399S(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCGACTACTGGATGCCATTT	0.517																																						uc003kuu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(7195-7197)TCC>TCG		fibrillin 2 precursor							95.0	86.0	89.0					5																	127614475		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127614475G>C	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7197C>G	5.37:g.127614475G>C							p.S2399S	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	57	7636	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2399			TB 9.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.7197C>G	CCDS34222.1																																																																																				PASS	0.517	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		4	18	4	18	---	---	---	---
AFF4	27125	broad.mit.edu	37	5	132240074	132240074	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr5:132240074C>G	ENST00000265343.5	-	6	1452	c.1073G>C	c.(1072-1074)gGc>gCc	p.G358A	AFF4_ENST00000378595.3_Missense_Mutation_p.G358A|AFF4_ENST00000491831.1_5'UTR	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	358	Ser-rich.				spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G358A(1)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCTCCAGTGCCAAAATTGGA	0.289																																					Ovarian(126;889 1733 2942 10745 11605)	uc003kyd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(2)|skin(1)	5						c.(1072-1074)GGC>GCC		ALL1 fused gene from 5q31							49.0	46.0	47.0					5																	132240074		2203	4299	6502	SO:0001583	missense	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132240074C>G	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.1073G>C	5.37:g.132240074C>G	ENSP00000265343:p.Gly358Ala					AFF4_uc011cxk.1_Missense_Mutation_p.G36A|AFF4_uc003kye.1_Missense_Mutation_p.G358A	p.G358A	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		6	1481	-		all_cancers(142;0.145)|Breast(839;0.198)	358			Ser-rich.		B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	c.1073G>C	CCDS4164.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.64|11.64	1.697737|1.697737	0.30142|0.30142	.|.	.|.	ENSG00000072364|ENSG00000072364	ENST00000425658|ENST00000265343;ENST00000378595	.|T;T	.|0.64618	.|-0.11;-0.11	5.38|5.38	4.51|4.51	0.55191|0.55191	.|.	.|0.336851	.|0.34268	.|N	.|0.004102	T|T	0.43433|0.43433	0.1247|0.1247	L|L	0.28504|0.28504	0.86|0.86	0.34120|0.34120	D|D	0.664009|0.664009	.|B;B	.|0.33807	.|0.264;0.426	.|B;B	.|0.31547	.|0.124;0.132	T|T	0.50709|0.50709	-0.8796|-0.8796	5|10	.|0.09084	.|T	.|0.74	-9.157|-9.157	9.9021|9.9021	0.41353|0.41353	0.0:0.7876:0.139:0.0734|0.0:0.7876:0.139:0.0734	.|.	.|358;358	.|Q9UHB7-2;Q9UHB7	.|.;AFF4_HUMAN	P|A	54|358	.|ENSP00000265343:G358A;ENSP00000367858:G358A	.|ENSP00000265343:G358A	A|G	-|-	1|2	0|0	AFF4|AFF4	132267973|132267973	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.333000|2.333000	0.43912|0.43912	1.388000|1.388000	0.46506|0.46506	0.655000|0.655000	0.94253|0.94253	GCA|GGC		PASS	0.289	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		5	17	5	17	---	---	---	---
PCDHA4	56144	broad.mit.edu	37	5	140188634	140188634	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr5:140188634C>T	ENST00000530339.1	+	1	1862	c.1862C>T	c.(1861-1863)cCg>cTg	p.P621L	PCDHA4_ENST00000356878.4_Missense_Mutation_p.P621L|PCDHA4_ENST00000512229.2_Missense_Mutation_p.P621L|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	621	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P621L(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCATCCCGTTCCGCGTG	0.672																																						uc003lhi.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(1861-1863)CCG>CTG		protocadherin alpha 4 isoform 1 precursor							89.0	89.0	89.0					5																	140188634		2203	4299	6502	SO:0001583	missense	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140188634C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1862C>T	5.37:g.140188634C>T	ENSP00000435300:p.Pro621Leu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.P621L|PCDHA4_uc011daa.1_Missense_Mutation_p.P621L	p.P621L	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1963	+			621			Cadherin 6.|Extracellular (Potential).		O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.1862C>T	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	1.924	-0.447671	0.04572	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.49720	0.77;0.77;0.77	4.08	1.23	0.21249	Cadherin (4);Cadherin-like (1);	0.181563	0.26435	N	0.024383	T	0.27419	0.0673	N	0.12611	0.24	0.22562	N	0.998981	B;B;B	0.25609	0.093;0.077;0.13	B;B;B	0.29077	0.048;0.055;0.098	T	0.18745	-1.0327	10	0.51188	T	0.08	.	7.8802	0.29618	0.0:0.5272:0.0:0.4728	.	621;621;621	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	L	621	ENSP00000423470:P621L;ENSP00000349344:P621L;ENSP00000435300:P621L	ENSP00000349344:P621L	P	+	2	0	PCDHA4	140168818	0.000000	0.05858	0.034000	0.17996	0.028000	0.11728	-0.134000	0.10436	0.016000	0.14998	-0.350000	0.07774	CCG		PASS	0.672	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		10	58	10	58	---	---	---	---
PCDHA6	56142	broad.mit.edu	37	5	140209210	140209210	+	Missense_Mutation	SNP	G	G	A	rs138462086	byFrequency	TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr5:140209210G>A	ENST00000529310.1	+	1	1648	c.1534G>A	c.(1534-1536)Gcg>Acg	p.A512T	PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.A512T|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	512	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A512T(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGGTGCACGCGGAGAGCGG	0.697													.|||	2	0.000399361	0.0008	0.0014	5008	,	,		14851	0.0		0.0	False		,,,				2504	0.0					uc003lho.2																			2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(1534-1536)GCG>ACG		protocadherin alpha 6 isoform 1 precursor							67.0	75.0	72.0					5																	140209210		2203	4298	6501	SO:0001583	missense	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140209210G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1534G>A	5.37:g.140209210G>A	ENSP00000433378:p.Ala512Thr					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.A512T|PCDHA6_uc011dab.1_Missense_Mutation_p.A512T	p.A512T	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1561	+			512			Cadherin 5.|Extracellular (Potential).		O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.1534G>A	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943795	0.34283	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.47869	0.83;0.83	3.72	2.75	0.32379	Cadherin (4);Cadherin-like (1);	0.230494	0.21158	U	0.079211	T	0.36441	0.0967	L	0.41632	1.29	0.23391	N	0.997777	P;B;P	0.49358	0.458;0.293;0.923	B;B;B	0.42188	0.261;0.379;0.359	T	0.29336	-1.0015	10	0.59425	D	0.04	.	8.0497	0.30570	0.0:0.1293:0.623:0.2477	.	512;512;512	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	T	512	ENSP00000433378:A512T;ENSP00000434113:A512T	ENSP00000434113:A512T	A	+	1	0	PCDHA6	140189394	0.000000	0.05858	1.000000	0.80357	0.747000	0.42532	-0.326000	0.07965	2.061000	0.61500	0.313000	0.20887	GCG		PASS	0.697	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		8	36	8	36	---	---	---	---
PCDHA8	56140	broad.mit.edu	37	5	140222505	140222505	+	Silent	SNP	C	C	T	rs147542523		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr5:140222505C>T	ENST00000531613.1	+	1	1599	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F	PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Silent_p.F533F|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	533	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.F533F(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGCAGTTCCAGGTGAGCG	0.672													.|||	1	0.000199681	0.0	0.0	5008	,	,		15550	0.0		0.001	False		,,,				2504	0.0					uc003lhs.2																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1597-1599)TTC>TTT		protocadherin alpha 8 isoform 1 precursor							60.0	71.0	67.0					5																	140222505		2196	4270	6466	SO:0001819	synonymous_variant	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140222505C>T	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1599C>T	5.37:g.140222505C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.F533F	p.F533F	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1599	+			533			Cadherin 5.|Extracellular (Potential).		B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	c.1599C>T	CCDS54919.1																																																																																				PASS	0.672	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		6	73	6	73	---	---	---	---
PCDHB13	56123	broad.mit.edu	37	5	140596009	140596009	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr5:140596009C>A	ENST00000341948.4	+	1	2501	c.2314C>A	c.(2314-2316)Ccc>Acc	p.P772T		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	772					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P772T(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCGATTATCCCCAACTTCCC	0.493																																						uc003lja.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2314-2316)CCC>ACC		protocadherin beta 13 precursor							109.0	109.0	109.0					5																	140596009		2203	4300	6503	SO:0001583	missense	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140596009C>A	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.2314C>A	5.37:g.140596009C>A	ENSP00000345491:p.Pro772Thr						p.P772T	NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2501	+			772			Cytoplasmic (Potential).		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.2314C>A	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	-	11.63	1.695332	0.30052	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.55052	0.54	3.99	3.08	0.35506	.	.	.	.	.	T	0.61324	0.2338	H	0.94542	3.55	0.09310	N	1	B	0.32829	0.386	B	0.30401	0.115	T	0.60337	-0.7283	9	0.72032	D	0.01	.	8.1157	0.30942	0.0:0.746:0.1618:0.0922	.	772	Q9Y5F0	PCDBD_HUMAN	T	772;772;718	ENSP00000345491:P772T	ENSP00000345491:P772T	P	+	1	0	PCDHB13	140576193	0.000000	0.05858	0.003000	0.11579	0.046000	0.14306	0.341000	0.19909	0.757000	0.33036	0.305000	0.20034	CCC		PASS	0.493	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		29	63	29	63	---	---	---	---
PCDHGB1	56104	broad.mit.edu	37	5	140732021	140732021	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr5:140732021G>A	ENST00000523390.1	+	1	2194	c.2194G>A	c.(2194-2196)Ggg>Agg	p.G732R	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_5'Flank	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	732					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G732R(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAAGTCTGGGCCCGGGGT	0.547																																						uc003ljo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2194-2196)GGG>AGG		protocadherin gamma subfamily B, 1 isoform 1							97.0	102.0	100.0					5																	140732021		1990	4162	6152	SO:0001583	missense	56104				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140732021G>A	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.2194G>A	5.37:g.140732021G>A	ENSP00000429273:p.Gly732Arg					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA4_uc003ljq.1_5'Flank|PCDHGB1_uc011daq.1_Missense_Mutation_p.G732R|PCDHGA4_uc003ljp.1_5'Flank	p.G732R	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2194	+			732			Cytoplasmic (Potential).		Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.2194G>A	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	10.42	1.345391	0.24426	.	.	ENSG00000254221	ENST00000523390	T	0.20069	2.1	5.58	2.71	0.32032	.	.	.	.	.	T	0.21801	0.0525	L	0.59436	1.845	0.09310	N	1	B;B	0.19445	0.036;0.012	B;B	0.17979	0.02;0.009	T	0.16364	-1.0405	9	0.31617	T	0.26	.	11.3209	0.49421	0.0687:0.2462:0.6851:0.0	.	732;732	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	R	732	ENSP00000429273:G732R	ENSP00000429273:G732R	G	+	1	0	PCDHGB1	140712205	0.008000	0.16893	0.162000	0.22713	0.005000	0.04900	1.264000	0.33015	0.785000	0.33685	-0.165000	0.13383	GGG		PASS	0.547	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		34	67	34	67	---	---	---	---
PCDHGA5	56110	broad.mit.edu	37	5	140744378	140744378	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr5:140744378G>T	ENST00000518069.1	+	1	481	c.481G>T	c.(481-483)Gat>Tat	p.D161Y	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	161	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D161Y(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGGATGCGGATGTGGGTGT	0.507																																						uc003lju.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(481-483)GAT>TAT		protocadherin gamma subfamily A, 5 isoform 1							50.0	53.0	52.0					5																	140744378		2021	4174	6195	SO:0001583	missense	56110				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140744378G>T	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.481G>T	5.37:g.140744378G>T	ENSP00000429834:p.Asp161Tyr					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.D161Y	p.D161Y	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	481	+			161			Extracellular (Potential).|Cadherin 2.		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	c.481G>T	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	17.21	3.330692	0.60853	.	.	ENSG00000253485	ENST00000518069	T	0.74737	-0.87	5.31	5.31	0.75309	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.93141	0.7816	H	0.99705	4.715	0.47659	D	0.999489	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96176	0.9127	9	0.87932	D	0	.	18.9356	0.92584	0.0:0.0:1.0:0.0	.	161;161	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	Y	161	ENSP00000429834:D161Y	ENSP00000429834:D161Y	D	+	1	0	PCDHGA5	140724562	1.000000	0.71417	0.978000	0.43139	0.515000	0.34225	9.416000	0.97383	2.628000	0.89032	0.563000	0.77884	GAT		PASS	0.507	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		10	23	10	23	---	---	---	---
FAM114A2	10827	broad.mit.edu	37	5	153406071	153406071	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr5:153406071G>C	ENST00000351797.4	-	8	877	c.801C>G	c.(799-801)atC>atG	p.I267M	FAM114A2_ENST00000522858.1_Missense_Mutation_p.I267M|FAM114A2_ENST00000520667.1_Missense_Mutation_p.I267M|FAM114A2_ENST00000520313.1_Missense_Mutation_p.I197M	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	267							purine nucleotide binding (GO:0017076)	p.I267M(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						GAGAATTAAGGATAGATTTCA	0.318																																						uc003lvb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(799-801)ATC>ATG		hypothetical protein LOC10827							41.0	42.0	41.0					5																	153406071		2201	4296	6497	SO:0001583	missense	10827						purine nucleotide binding	g.chr5:153406071G>C	AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 3"""	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.801C>G	5.37:g.153406071G>C	ENSP00000341597:p.Ile267Met					FAM114A2_uc003lvc.2_Missense_Mutation_p.I267M|FAM114A2_uc003lvd.2_Missense_Mutation_p.I267M|FAM114A2_uc003lve.2_Missense_Mutation_p.I83M|FAM114A2_uc011dda.1_Missense_Mutation_p.I197M	p.I267M	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN			8	1389	-			267					B2R8D8|Q9H7E0	Missense_Mutation	SNP	ENST00000351797.4	37	c.801C>G	CCDS4323.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620045	0.46736	.	.	ENSG00000055147	ENST00000351797;ENST00000522858;ENST00000520667;ENST00000520313	T;T;T;T	0.18657	2.45;2.45;2.45;2.2	5.52	-4.56	0.03431	.	0.291584	0.34411	N	0.003992	T	0.14787	0.0357	L	0.44542	1.39	0.23681	N	0.997125	P;P	0.48230	0.893;0.907	B;B	0.43052	0.406;0.395	T	0.15378	-1.0439	10	0.35671	T	0.21	-4.992	9.3827	0.38325	0.4216:0.0:0.4882:0.0902	.	197;267	E7ESJ7;Q9NRY5	.;F1142_HUMAN	M	267;267;267;197	ENSP00000341597:I267M;ENSP00000430489:I267M;ENSP00000430384:I267M;ENSP00000429088:I197M	ENSP00000341597:I267M	I	-	3	3	FAM114A2	153386264	0.920000	0.31207	0.882000	0.34594	0.981000	0.71138	0.085000	0.14912	-1.146000	0.02854	0.655000	0.94253	ATC		PASS	0.318	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252455.1	NM_018691		10	12	10	12	---	---	---	---
GEMIN5	25929	broad.mit.edu	37	5	154308114	154308114	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr5:154308114G>T	ENST00000285873.7	-	6	962	c.887C>A	c.(886-888)cCa>cAa	p.P296Q		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	296					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)	p.P296Q(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGCTGTGTTGGTTGATTGCT	0.428																																						uc003lvx.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(886-888)CCA>CAA		gemin 5							129.0	122.0	124.0					5																	154308114		2203	4300	6503	SO:0001583	missense	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154308114G>T	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.887C>A	5.37:g.154308114G>T	ENSP00000285873:p.Pro296Gln					GEMIN5_uc011ddk.1_Missense_Mutation_p.P295Q	p.P296Q	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		6	970	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	296			WD 5.		Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	c.887C>A	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	g	22.9	4.353688	0.82243	.	.	ENSG00000082516	ENST00000285873	T	0.51071	0.72	5.25	5.25	0.73442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.061091	0.64402	D	0.000003	T	0.63390	0.2507	M	0.69823	2.125	0.58432	D	0.999999	D;D	0.59767	0.986;0.986	P;P	0.54629	0.757;0.757	T	0.67245	-0.5719	10	0.59425	D	0.04	-6.5772	18.8672	0.92298	0.0:0.0:1.0:0.0	.	295;296	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	Q	296	ENSP00000285873:P296Q	ENSP00000285873:P296Q	P	-	2	0	GEMIN5	154288307	1.000000	0.71417	0.997000	0.53966	0.679000	0.39708	8.774000	0.91767	2.444000	0.82710	0.655000	0.94253	CCA		PASS	0.428	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			7	139	7	139	---	---	---	---
ITK	3702	broad.mit.edu	37	5	156608051	156608051	+	Silent	SNP	T	T	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr5:156608051T>A	ENST00000422843.3	+	1	215	c.63T>A	c.(61-63)acT>acA	p.T21T		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	21	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.T21T(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	AGAGAAGAACTTCTCCCTCGA	0.438			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)	uc003lwo.1				Dom	yes		5	5q31-q32	3702	T	IL2-inducible T-cell kinase			L	SYK		peripheral T-cell lymphoma		1	Substitution - coding silent(1)		lung(1)	lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26						c.(61-63)ACT>ACA		IL2-inducible T-cell kinase							115.0	106.0	109.0					5																	156608051		2203	4300	6503	SO:0001819	synonymous_variant	3702				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr5:156608051T>A	D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.63T>A	5.37:g.156608051T>A							p.T21T	NM_005546	NP_005537	Q08881	ITK_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	145	+	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	21			PH.		B2R752|Q32ML7	Silent	SNP	ENST00000422843.3	37	c.63T>A	CCDS4336.1																																																																																				PASS	0.438	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			19	56	19	56	---	---	---	---
FBXW11	23291	broad.mit.edu	37	5	171297857	171297857	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr5:171297857C>G	ENST00000265094.5	-	10	1420	c.1283G>C	c.(1282-1284)tGg>tCg	p.W428S	FBXW11_ENST00000296933.6_Missense_Mutation_p.W415S|FBXW11_ENST00000393802.2_Missense_Mutation_p.W394S|FBXW11_ENST00000425623.2_Missense_Mutation_p.W396S	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	428					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.W415S(1)|p.W428S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTCAATATCCCAGAGCCTTGA	0.408																																						uc003mbm.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(1282-1284)TGG>TCG		F-box and WD repeat domain containing 11 isoform							80.0	82.0	81.0					5																	171297857		2203	4300	6503	SO:0001583	missense	23291				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:171297857C>G	AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13607	protein-coding gene	gene with protein product		605651	"""F-box and WD-40 domain protein 1B"", ""F-box and WD-40 domain protein 11"""	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.1283G>C	5.37:g.171297857C>G	ENSP00000265094:p.Trp428Ser					FBXW11_uc011dey.1_Missense_Mutation_p.W396S|FBXW11_uc003mbl.1_Missense_Mutation_p.W415S|FBXW11_uc003mbn.1_Missense_Mutation_p.W394S	p.W428S	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		10	1654	-	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	428			WD 5.		B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Missense_Mutation	SNP	ENST00000265094.5	37	c.1283G>C	CCDS34289.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502302	0.85176	.	.	ENSG00000072803	ENST00000296933;ENST00000265094;ENST00000393802;ENST00000425623	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	5.02	5.02	0.67125	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.94427	0.8207	H	0.96996	3.92	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	0.96249	0.9182	10	0.87932	D	0	-9.2326	18.3271	0.90258	0.0:1.0:0.0:0.0	.	396;394;428;415	B4DH70;Q9UKB1-2;Q9UKB1;Q9UKB1-3	.;.;FBW1B_HUMAN;.	S	415;428;394;396	ENSP00000296933:W415S;ENSP00000265094:W428S;ENSP00000377391:W394S;ENSP00000444929:W396S	ENSP00000265094:W428S	W	-	2	0	FBXW11	171230462	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.729000	0.84864	2.491000	0.84063	0.650000	0.86243	TGG		PASS	0.408	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	NM_012300		15	53	15	53	---	---	---	---
SH3PXD2B	285590	broad.mit.edu	37	5	171833301	171833301	+	Missense_Mutation	SNP	C	C	A	rs200536170		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr5:171833301C>A	ENST00000311601.5	-	3	382	c.212G>T	c.(211-213)cGg>cTg	p.R71L	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.R71L	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	71	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)	p.R71L(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGGGATGATCCGCTGCTTGGG	0.512																																						uc003mbr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(211-213)CGG>CTG		SH3 and PX domains 2B							216.0	195.0	202.0					5																	171833301		2203	4300	6503	SO:0001583	missense	285590				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	g.chr5:171833301C>A	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.212G>T	5.37:g.171833301C>A	ENSP00000309714:p.Arg71Leu					SH3PXD2B_uc003mbs.1_Missense_Mutation_p.R71L	p.R71L	NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		3	383	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	71			PX.		B6F0V2|Q9P2Q1	Missense_Mutation	SNP	ENST00000311601.5	37	c.212G>T	CCDS34291.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618597	0.87460	.	.	ENSG00000174705	ENST00000519643;ENST00000311601	T;T	0.38560	1.13;1.13	5.7	5.7	0.88788	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76884	-0.2794	10	0.87932	D	0	-30.1942	15.3412	0.74300	0.0:1.0:0.0:0.0	.	71	A1X283	SPD2B_HUMAN	L	71	ENSP00000430890:R71L;ENSP00000309714:R71L	ENSP00000309714:R71L	R	-	2	0	SH3PXD2B	171765906	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	6.615000	0.74201	2.683000	0.91414	0.655000	0.94253	CGG		PASS	0.512	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		60	134	60	134	---	---	---	---
CD83	9308	broad.mit.edu	37	6	14118260	14118260	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr6:14118260G>T	ENST00000379153.3	+	2	288	c.117G>T	c.(115-117)tgG>tgT	p.W39C		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	39	Ig-like V-type.				defense response (GO:0006952)|humoral immune response (GO:0006959)|negative regulation of interleukin-4 production (GO:0032713)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|response to organic cyclic compound (GO:0014070)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.W39C(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				CCGCCCCCTGGGATCCGCAGG	0.622																																						uc003nbi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(115-117)TGG>TGT		CD83 antigen isoform a							28.0	29.0	28.0					6																	14118260		2203	4300	6503	SO:0001583	missense	9308				defense response|humoral immune response|signal transduction	integral to plasma membrane		g.chr6:14118260G>T	Z11697	CCDS4532.1, CCDS75403.1	6p23	2013-01-11	2006-03-31		ENSG00000112149	ENSG00000112149		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1703	protein-coding gene	gene with protein product		604534	"""CD83 antigen (activated B lymphocytes, immunoglobulin superfamily)"", ""CD83 molecule """			1378080, 8422464	Standard	NM_001251901		Approved	HB15, BL11	uc003nbi.3	Q01151	OTTHUMG00000014283	ENST00000379153.3:c.117G>T	6.37:g.14118260G>T	ENSP00000368450:p.Trp39Cys					CD83_uc003nbh.2_Missense_Mutation_p.W39C	p.W39C	NM_004233	NP_004224	Q01151	CD83_HUMAN			2	295	+	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)	39			Extracellular (Potential).|Ig-like V-type.		Q5THX9	Missense_Mutation	SNP	ENST00000379153.3	37	c.117G>T	CCDS4532.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987314	0.35036	.	.	ENSG00000112149	ENST00000379153	T	0.26957	1.7	4.56	2.75	0.32379	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.000740	0.08064	N	0.998699	T	0.23330	0.0564	L	0.49350	1.555	0.52501	D	0.999958	D	0.71674	0.998	D	0.66847	0.947	T	0.39643	-0.9604	10	0.17832	T	0.49	-11.8298	7.2134	0.25947	0.2112:0.0:0.7888:0.0	.	39	Q01151	CD83_HUMAN	C	39	ENSP00000368450:W39C	ENSP00000368450:W39C	W	+	3	0	CD83	14226239	1.000000	0.71417	0.705000	0.30386	0.686000	0.39977	4.759000	0.62227	0.354000	0.24105	0.491000	0.48974	TGG		PASS	0.622	CD83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039916.1			4	12	4	12	---	---	---	---
ZNF165	7718	broad.mit.edu	37	6	28053949	28053949	+	Splice_Site	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr6:28053949G>A	ENST00000377325.1	+	3	967		c.e3-1			NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATTTTTCTCAGGTTCAAGCCC	0.413																																						uc003nkg.2																			1	Unknown(1)		lung(1)		0						c.e4-1		zinc finger protein 165							80.0	78.0	79.0					6																	28053949		2203	4300	6503	SO:0001630	splice_region_variant	7718				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28053949G>A	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"""-"", ""Zinc fingers, C2H2-type"""	12953	protein-coding gene	gene with protein product	"""cancer/testis antigen 53"""	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.412-1G>A	6.37:g.28053949G>A						ZNF165_uc003nkh.2_Splice_Site_p.V138_splice|ZNF165_uc003nki.3_Splice_Site_p.V138_splice	p.V138_splice	NM_003447	NP_003438	P49910	ZN165_HUMAN			4	1496	+									Splice_Site	SNP	ENST00000377325.1	37	c.412_splice	CCDS4643.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010901	0.35511	.	.	ENSG00000197279	ENST00000377325	.	.	.	3.17	2.29	0.28610	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.7817	0.23650	0.1432:0.0:0.8568:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF165	28161928	0.997000	0.39634	0.990000	0.47175	0.744000	0.42396	1.344000	0.33941	0.644000	0.30656	0.563000	0.77884	.		PASS	0.413	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447	Intron	16	51	16	51	---	---	---	---
ZBED9	114821	broad.mit.edu	37	6	28543760	28543760	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr6:28543760G>T	ENST00000452236.2	-	3	1339	c.722C>A	c.(721-723)aCt>aAt	p.T241N	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1												p.T241N(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AAATATCTTAGTATTATTACT	0.353																																						uc003nlo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(721-723)ACT>AAT		SCAN domain containing 3							101.0	102.0	101.0					6																	28543760		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28543760G>T																												ENST00000452236.2:c.722C>A	6.37:g.28543760G>T	ENSP00000395259:p.Thr241Asn						p.T241N	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			3	1340	-			241						Missense_Mutation	SNP	ENST00000452236.2	37	c.722C>A	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.661994	0.29515	.	.	ENSG00000232040	ENST00000452236	T	0.01388	4.95	2.54	2.54	0.30619	.	.	.	.	.	T	0.01029	0.0034	N	0.14661	0.345	0.25691	N	0.985687	D	0.64830	0.994	D	0.73708	0.981	T	0.60193	-0.7311	9	0.23891	T	0.37	.	8.7473	0.34594	0.0:0.0:1.0:0.0	.	241	Q6R2W3	SCND3_HUMAN	N	241	ENSP00000395259:T241N	ENSP00000395259:T241N	T	-	2	0	SCAND3	28651739	0.996000	0.38824	1.000000	0.80357	0.991000	0.79684	1.659000	0.37387	1.735000	0.51646	0.585000	0.79938	ACT		PASS	0.353	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			14	40	14	40	---	---	---	---
GNL1	2794	broad.mit.edu	37	6	30515028	30515028	+	Silent	SNP	G	G	A	rs200727240	byFrequency	TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr6:30515028G>A	ENST00000376621.3	-	10	2272	c.1302C>T	c.(1300-1302)atC>atT	p.I434I		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	434					cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.I434I(1)		cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GGATCTGGGCGATAGGGTAGA	0.602													G|||	4	0.000798722	0.0	0.0	5008	,	,		18977	0.001		0.0	False		,,,				2504	0.0031					uc003nqh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1300-1302)ATC>ATT		guanine nucleotide binding protein-like 1							163.0	157.0	159.0					6																	30515028		1511	2709	4220	SO:0001819	synonymous_variant	2794				response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity	g.chr6:30515028G>A		CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.1302C>T	6.37:g.30515028G>A						GNL1_uc011dmi.1_Silent_p.I231I|GNL1_uc011dmj.1_Silent_p.I432I|GNL1_uc011dmk.1_Silent_p.I89I	p.I434I	NM_005275	NP_005266	P36915	GNL1_HUMAN			10	2330	-			434					B0S838|Q96CT5	Silent	SNP	ENST00000376621.3	37	c.1302C>T	CCDS4680.1																																																																																				PASS	0.602	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2			37	83	37	83	---	---	---	---
SLC44A4	80736	broad.mit.edu	37	6	31842560	31842560	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr6:31842560C>T	ENST00000229729.6	-	6	426	c.406G>A	c.(406-408)Gtt>Att	p.V136I	SLC44A4_ENST00000544672.1_Missense_Mutation_p.V60I|SLC44A4_ENST00000375562.4_Intron|SLC44A4_ENST00000465707.1_5'UTR	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	136					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V136I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	ACTTCCCCAACAGTCTGTGAG	0.512																																						uc010jti.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|central_nervous_system(1)	4						c.(406-408)GTT>ATT		choline transporter-like protein 4	Choline(DB00122)						74.0	73.0	73.0					6																	31842560		2203	4300	6503	SO:0001583	missense	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31842560C>T	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.406G>A	6.37:g.31842560C>T	ENSP00000229729:p.Val136Ile					SLC44A4_uc011dol.1_Missense_Mutation_p.V60I|SLC44A4_uc011dom.1_Intron	p.V136I	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN			6	472	-			136			Extracellular (Potential).		A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	ENST00000229729.6	37	c.406G>A	CCDS4724.2	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021489	0.35701	.	.	ENSG00000204385	ENST00000229729;ENST00000544672	T;T	0.27104	1.69;1.69	4.9	4.9	0.64082	.	0.159408	0.41605	D	0.000855	T	0.10035	0.0246	L	0.49513	1.565	0.09310	N	1	P	0.35908	0.527	B	0.29942	0.109	T	0.12319	-1.0552	10	0.21014	T	0.42	-14.455	13.7658	0.62995	0.0:1.0:0.0:0.0	.	136	Q53GD3	CTL4_HUMAN	I	136;60	ENSP00000229729:V136I;ENSP00000444109:V60I	ENSP00000229729:V136I	V	-	1	0	SLC44A4	31950539	0.497000	0.26067	0.081000	0.20488	0.050000	0.14768	2.434000	0.44802	2.711000	0.92665	0.655000	0.94253	GTT		PASS	0.512	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			7	45	7	45	---	---	---	---
HLA-DMB	3109	broad.mit.edu	37	6	32905190	32905190	+	Silent	SNP	C	C	A	rs372328837		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr6:32905190C>A	ENST00000418107.2	-	3	643	c.381G>T	c.(379-381)acG>acT	p.T127T	HLA-DMB_ENST00000416244.2_Silent_p.T127T|XXbac-BPG181M17.5_ENST00000429234.1_Silent_p.T159T|AL645941.1_ENST00000390777.1_RNA	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	127	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)	p.T127T(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						CAGGCTCCCTCGTGTTAAAAG	0.512																																						uc003ocl.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(379-381)ACG>ACT		major histocompatibility complex, class II, DM							128.0	121.0	123.0					6																	32905190		2203	4300	6503	SO:0001819	synonymous_variant	3109				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32905190C>A		CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.381G>T	6.37:g.32905190C>A						HLA-DMB_uc003ocj.1_3'UTR|HLA-DMB_uc003ock.1_5'Flank|HLA-DMB_uc010jud.1_5'UTR|HLA-DMB_uc010jue.1_5'UTR|HLA-DMB_uc010juf.1_5'UTR|HLA-DMB_uc011dql.1_Silent_p.T127T	p.T127T	NM_002118	NP_002109	P28068	DMB_HUMAN			3	614	-			127			Lumenal (Potential).|Ig-like C1-type.|Beta-2.		O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Silent	SNP	ENST00000418107.2	37	c.381G>T	CCDS4760.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344432	0.24339	.	.	ENSG00000242574	ENST00000414017	.	.	.	4.93	-6.69	0.01772	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6792	0.28502	0.0:0.1352:0.3071:0.5577	.	.	.	.	X	17	.	.	E	-	1	0	HLA-DMB	33013168	0.000000	0.05858	0.775000	0.31657	0.987000	0.75469	-2.563000	0.00919	-1.291000	0.02368	0.544000	0.68410	GAG		PASS	0.512	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076340.2	NM_002118		5	121	5	121	---	---	---	---
TCP11	6954	broad.mit.edu	37	6	35090020	35090020	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr6:35090020T>A	ENST00000512012.1	-	4	608	c.452A>T	c.(451-453)cAt>cTt	p.H151L	TCP11_ENST00000373979.2_Missense_Mutation_p.H89L|TCP11_ENST00000244645.3_Missense_Mutation_p.H89L|TCP11_ENST00000418521.2_Missense_Mutation_p.H88L|TCP11_ENST00000444780.2_Missense_Mutation_p.H159L|TCP11_ENST00000311875.5_Missense_Mutation_p.H164L|TCP11_ENST00000412155.2_Missense_Mutation_p.H113L|TCP11_ENST00000373974.4_Missense_Mutation_p.H118L			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	151					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.H89L(1)|p.H164L(1)		breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CAGGGCCCCATGTTCTGCCTC	0.488																																						uc003okd.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)	5						c.(490-492)CAT>CTT		t-complex 11 isoform 1							138.0	125.0	129.0					6																	35090020		2203	4300	6503	SO:0001583	missense	6954				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr6:35090020T>A		CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"""fertilization-promoting peptide receptor"""	186982	"""t-complex 11 (a murine tcp homolog)"", ""t-complex 11 homolog (mouse)"""	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.452A>T	6.37:g.35090020T>A	ENSP00000425995:p.His151Leu					TCP11_uc003ojz.1_Missense_Mutation_p.H89L|TCP11_uc003oka.2_Missense_Mutation_p.H89L|TCP11_uc003okb.2_Missense_Mutation_p.H88L|TCP11_uc003okc.2_Missense_Mutation_p.H88L|TCP11_uc011dsu.1_Missense_Mutation_p.H146L|TCP11_uc011dsv.1_Missense_Mutation_p.H113L|TCP11_uc011dsw.1_Missense_Mutation_p.H118L	p.H164L	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN			5	672	-			151					B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Missense_Mutation	SNP	ENST00000512012.1	37	c.491A>T		.	.	.	.	.	.	.	.	.	.	T	12.08	1.832097	0.32421	.	.	ENSG00000124678	ENST00000373979;ENST00000412155;ENST00000244645;ENST00000373977;ENST00000311875;ENST00000444780;ENST00000373974;ENST00000418521;ENST00000512012;ENST00000486638;ENST00000492680	T;T;T;T;T;T;T;T;T;T	0.12879	2.64;2.64;2.64;2.64;2.64;2.64;2.64;2.64;2.64;2.64	4.33	-3.85	0.04243	.	0.310219	0.33732	N	0.004616	T	0.12518	0.0304	M	0.83953	2.67	0.09310	N	1	P;P;D;D;D;B	0.53885	0.928;0.874;0.963;0.963;0.963;0.364	P;P;P;P;P;B	0.60173	0.762;0.762;0.826;0.87;0.762;0.287	T	0.06180	-1.0841	10	0.32370	T	0.25	.	5.4812	0.16725	0.1294:0.3974:0.0:0.4732	.	118;113;159;224;151;89	B7Z7G1;E7EP29;B7Z7B5;Q5TB88;Q8WWU5;Q8WWU5-2	.;.;.;.;TCP11_HUMAN;.	L	89;113;89;113;164;159;118;88;151;10;89	ENSP00000363091:H89L;ENSP00000402816:H113L;ENSP00000244645:H89L;ENSP00000308708:H164L;ENSP00000404479:H159L;ENSP00000363085:H118L;ENSP00000415320:H88L;ENSP00000425995:H151L;ENSP00000421103:H10L;ENSP00000422774:H89L	ENSP00000244645:H89L	H	-	2	0	TCP11	35197998	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.539000	0.23175	-0.768000	0.04626	-0.371000	0.07208	CAT		PASS	0.488	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1	NM_001093728		29	49	29	49	---	---	---	---
OARD1	221443	broad.mit.edu	37	6	41037854	41037854	+	Silent	SNP	C	C	A	rs144524444	byFrequency	TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr6:41037854C>A	ENST00000479950.1	-	4	517	c.204G>T	c.(202-204)gtG>gtT	p.V68V	NFYA_ENST00000341376.6_5'Flank|OARD1_ENST00000373154.2_Silent_p.V68V|OARD1_ENST00000424266.2_Silent_p.V68V|OARD1_ENST00000463088.1_Silent_p.V68V|OARD1_ENST00000480585.1_Silent_p.V68V|OARD1_ENST00000464633.1_Intron|OARD1_ENST00000482515.1_Intron|OARD1_ENST00000244558.9_5'UTR|OARD1_ENST00000467234.1_5'Flank|OARD1_ENST00000486443.1_Silent_p.V29V|OARD1_ENST00000468811.1_Silent_p.V68V|NFYA_ENST00000353205.5_5'Flank			Q9Y530	OARD1_HUMAN	O-acyl-ADP-ribose deacylase 1	68	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				purine nucleoside metabolic process (GO:0042278)		deacetylase activity (GO:0019213)|purine nucleoside binding (GO:0001883)	p.V68V(1)									TCAGAACAGCCACTTCTCCAG	0.313																																						uc003opm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(202-204)GTG>GTT		hypothetical protein LOC221443							71.0	77.0	75.0					6																	41037854		2203	4300	6503	SO:0001819	synonymous_variant	221443							g.chr6:41037854C>A	AJ420538	CCDS34445.1	6p21.1	2013-03-14	2012-11-06	2012-11-06	ENSG00000124596	ENSG00000124596			21257	protein-coding gene	gene with protein product	"""terminal ADP-ribose protein glycohydrolase 1"""	614393	"""chromosome 6 open reading frame 130"""	C6orf130		21849506	Standard	NM_145063		Approved	MGC19570, dJ34B21.3, TARG1	uc003opm.3	Q9Y530	OTTHUMG00000014667	ENST00000479950.1:c.204G>T	6.37:g.41037854C>A						UNC5CL_uc010jxe.1_5'UTR|C6orf130_uc010jxg.2_Silent_p.V68V|C6orf130_uc003opn.2_Silent_p.V68V|C6orf130_uc010jxh.1_Silent_p.V68V|NFYA_uc003opo.2_5'Flank|NFYA_uc003opp.2_5'Flank	p.V68V	NM_145063	NP_659500	Q9Y530	CF130_HUMAN			4	376	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		68			Macro.		A6NEK4|A8K4H4|Q96F23	Silent	SNP	ENST00000479950.1	37	c.204G>T	CCDS34445.1																																																																																				PASS	0.313	OARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040494.2	NM_145063		15	38	15	38	---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43155591	43155591	+	Silent	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr6:43155591G>A	ENST00000252050.4	+	7	1806	c.1722G>A	c.(1720-1722)ctG>ctA	p.L574L	CUL9_ENST00000354495.3_Silent_p.L464L|CUL9_ENST00000372647.2_Silent_p.L574L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	574					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.L574L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGTATGGGCTGCTGTCTAATG	0.522																																						uc003ouk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(1720-1722)CTG>CTA		p53-associated parkin-like cytoplasmic protein							98.0	91.0	93.0					6																	43155591		2203	4300	6503	SO:0001819	synonymous_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43155591G>A	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.1722G>A	6.37:g.43155591G>A						CUL9_uc003ouj.1_Silent_p.L464L|CUL9_uc003oul.2_Silent_p.L574L|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_Silent_p.L32L	p.L574L	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			7	1797	+			574					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.1722G>A	CCDS4890.1																																																																																				PASS	0.522	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		18	50	18	50	---	---	---	---
ZNF318	24149	broad.mit.edu	37	6	43306887	43306887	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr6:43306887G>C	ENST00000361428.2	-	10	4926	c.4849C>G	c.(4849-4851)Cct>Gct	p.P1617A	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1617					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.P1617A(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTGTTCAAAGGAGAAGTAGAA	0.473																																						uc003oux.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7						c.(4849-4851)CCT>GCT		zinc finger protein 318							133.0	136.0	135.0					6																	43306887		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43306887G>C	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.4849C>G	6.37:g.43306887G>C	ENSP00000354964:p.Pro1617Ala					ZNF318_uc003ouw.2_Intron	p.P1617A	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	4927	-			1617					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.4849C>G	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.931677	0.00053	.	.	ENSG00000171467	ENST00000361428	T	0.11063	2.81	5.59	-11.2	0.00127	.	1.325080	0.05137	N	0.493619	T	0.00784	0.0026	N	0.04508	-0.205	0.09310	N	0.999995	B	0.09022	0.002	B	0.09377	0.004	T	0.42224	-0.9464	10	0.22706	T	0.39	1.3084	1.3223	0.02118	0.1898:0.2606:0.3251:0.2244	.	1617	Q5VUA4	ZN318_HUMAN	A	1617	ENSP00000354964:P1617A	ENSP00000354964:P1617A	P	-	1	0	ZNF318	43414865	0.008000	0.16893	0.257000	0.24404	0.014000	0.08584	-1.230000	0.02942	-1.923000	0.01065	-0.365000	0.07479	CCT		PASS	0.473	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		34	68	34	68	---	---	---	---
SUPT3H	8464	broad.mit.edu	37	6	44921148	44921148	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr6:44921148C>G	ENST00000371459.1	-	9	865	c.700G>C	c.(700-702)Gat>Cat	p.D234H	SUPT3H_ENST00000371461.2_Missense_Mutation_p.D245H|SUPT3H_ENST00000371458.1_Missense_Mutation_p.D17H|SUPT3H_ENST00000306867.5_Missense_Mutation_p.D234H|SUPT3H_ENST00000371460.1_Missense_Mutation_p.D245H	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	316					chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)	p.D234H(1)|p.D245H(1)		breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						AGAGCCAGATCCACTAACTAG	0.433																																						uc003oxo.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)	3						c.(733-735)GAT>CAT		suppressor of Ty 3 homolog isoform 2							81.0	75.0	77.0					6																	44921148		2203	4300	6503	SO:0001583	missense	8464				histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity	g.chr6:44921148C>G	AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"""suppressor of Ty (S.cerevisiae) 3 homolog"""			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.700G>C	6.37:g.44921148C>G	ENSP00000360514:p.Asp234His					SUPT3H_uc003oxn.1_Missense_Mutation_p.D234H|SUPT3H_uc011dvv.1_Missense_Mutation_p.D82H|SUPT3H_uc003oxp.2_Missense_Mutation_p.D234H|SUPT3H_uc011dvw.1_Missense_Mutation_p.D148H	p.D245H	NM_181356	NP_852001	O75486	SUPT3_HUMAN			11	1051	-			316					A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Missense_Mutation	SNP	ENST00000371459.1	37	c.733G>C	CCDS34465.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396336	0.83011	.	.	ENSG00000196284	ENST00000371460;ENST00000371459;ENST00000371458;ENST00000306867;ENST00000371461	T;T;T;T;T	0.64618	0.75;0.77;-0.11;0.77;0.75	5.85	5.85	0.93711	.	0.092039	0.64402	D	0.000001	T	0.78233	0.4251	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.79813	-0.1645	10	0.72032	D	0.01	.	18.3347	0.90283	0.0:1.0:0.0:0.0	.	245;316	O75486-3;O75486	.;SUPT3_HUMAN	H	245;234;17;234;245	ENSP00000360515:D245H;ENSP00000360514:D234H;ENSP00000360513:D17H;ENSP00000306718:D234H;ENSP00000360516:D245H	ENSP00000306718:D234H	D	-	1	0	SUPT3H	45029126	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.683000	0.74533	2.767000	0.95098	0.563000	0.77884	GAT		PASS	0.433	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106911.2	NM_181356		12	32	12	32	---	---	---	---
RHAG	6005	broad.mit.edu	37	6	49604511	49604511	+	Silent	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr6:49604511G>A	ENST00000371175.4	-	1	41	c.15C>T	c.(13-15)ttC>ttT	p.F5F	RHAG_ENST00000229810.7_Silent_p.F5F	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	5					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.F5F(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					CCATGAGAGGGAATGTGAACC	0.438																																					Ovarian(176;476 2003 7720 43408 44749)	uc003ozk.3																			1	Substitution - coding silent(1)		lung(1)	breast(1)|skin(1)	2						c.(13-15)TTC>TTT		Rh-associated glycoprotein							100.0	93.0	96.0					6																	49604511		2203	4299	6502	SO:0001819	synonymous_variant	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49604511G>A		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.15C>T	6.37:g.49604511G>A						RHAG_uc010jzl.2_Silent_p.F5F|RHAG_uc010jzm.2_Silent_p.F5F	p.F5F	NM_000324	NP_000315	Q02094	RHAG_HUMAN			1	77	-	Lung NSC(77;0.0255)		5			Helical; (Potential).		B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Silent	SNP	ENST00000371175.4	37	c.15C>T	CCDS4927.1																																																																																				PASS	0.438	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			43	44	43	44	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51882299	51882299	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr6:51882299G>T	ENST00000371117.3	-	34	5784	c.5509C>A	c.(5509-5511)Ctc>Atc	p.L1837I	PKHD1_ENST00000340994.4_Missense_Mutation_p.L1837I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1837					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.L1837I(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAAATGTAGAGGTAAGGCCAC	0.498																																						uc003pah.1																			2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(5509-5511)CTC>ATC		fibrocystin isoform 1							194.0	168.0	177.0					6																	51882299		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51882299G>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.5509C>A	6.37:g.51882299G>T	ENSP00000360158:p.Leu1837Ile					PKHD1_uc003pai.2_Missense_Mutation_p.L1837I	p.L1837I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			34	5785	-	Lung NSC(77;0.0605)		1837			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.5509C>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	7.321	0.617030	0.14129	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87179	-2.0;-2.22	5.77	-1.8	0.07907	.	0.756010	0.12753	N	0.442021	T	0.43875	0.1267	N	0.14661	0.345	0.09310	N	0.999994	B;B	0.18461	0.028;0.013	B;B	0.16289	0.015;0.005	T	0.41716	-0.9493	10	0.08179	T	0.78	.	1.539	0.02551	0.2787:0.1952:0.3889:0.1372	.	1837;1837	P08F94-2;P08F94	.;PKHD1_HUMAN	I	1837	ENSP00000360158:L1837I;ENSP00000341097:L1837I	ENSP00000341097:L1837I	L	-	1	0	PKHD1	51990258	0.869000	0.29996	0.753000	0.31225	0.840000	0.47671	-0.168000	0.09925	-0.091000	0.12440	0.655000	0.94253	CTC		PASS	0.498	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		8	271	8	271	---	---	---	---
FAM83B	222584	broad.mit.edu	37	6	54805608	54805608	+	Silent	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr6:54805608C>A	ENST00000306858.7	+	5	1955	c.1839C>A	c.(1837-1839)acC>acA	p.T613T	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	613								p.T613T(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AAATGCACACCTTGCAGGTTC	0.428																																						uc003pck.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)	6						c.(1837-1839)ACC>ACA		hypothetical protein LOC222584							52.0	50.0	51.0					6																	54805608		2197	4294	6491	SO:0001819	synonymous_variant	222584							g.chr6:54805608C>A	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1839C>A	6.37:g.54805608C>A							p.T613T	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			5	1955	+	Lung NSC(77;0.0178)|Renal(3;0.122)		613					Q2M1P3|Q96DQ2	Silent	SNP	ENST00000306858.7	37	c.1839C>A	CCDS34479.1																																																																																				PASS	0.428	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		6	94	6	94	---	---	---	---
PRIM2	5558	broad.mit.edu	37	6	57398208	57398208	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr6:57398208G>A	ENST00000607273.1	+	10	998	c.911G>A	c.(910-912)gGa>gAa	p.G304E	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	304					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.G304E(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CTTTGTCATGGAGGCCGAATG	0.393																																						uc003pdx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(910-912)GGA>GAA		DNA primase polypeptide 2							267.0	244.0	251.0					6																	57398208		1958	4153	6111	SO:0001583	missense	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57398208G>A		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.911G>A	6.37:g.57398208G>A	ENSP00000475738:p.Gly304Glu						p.G304E	NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	10	998	+			304					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	ENST00000607273.1	37	c.911G>A																																																																																					PASS	0.393	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000947		26	258	26	258	---	---	---	---
COL19A1	1310	broad.mit.edu	37	6	70873266	70873266	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr6:70873266C>A	ENST00000322773.4	+	36	2480	c.2378C>A	c.(2377-2379)cCc>cAc	p.P793H	COL19A1_ENST00000393344.1_Missense_Mutation_p.P415H	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	793	Collagen-like 8.|Triple-helical region 4 (COL4).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.P793H(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CATCCTGGTCCCACAGGAGCA	0.448																																						uc003pfc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(2377-2379)CCC>CAC		alpha 1 type XIX collagen precursor							83.0	73.0	77.0					6																	70873266		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70873266C>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2378C>A	6.37:g.70873266C>A	ENSP00000316030:p.Pro793His					COL19A1_uc010kam.1_Missense_Mutation_p.P689H	p.P793H	NM_001858	NP_001849	Q14993	COJA1_HUMAN			36	2495	+			793			Triple-helical region 4 (COL4).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.2378C>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303295	0.60195	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.93859	-3.3;-3.3	6.06	6.06	0.98353	.	0.070349	0.64402	D	0.000011	D	0.96402	0.8826	M	0.76002	2.32	0.47341	D	0.999391	D	0.89917	1.0	D	0.79784	0.993	D	0.95001	0.8143	10	0.46703	T	0.11	.	20.6282	0.99521	0.0:1.0:0.0:0.0	.	793	Q14993	COJA1_HUMAN	H	793;415	ENSP00000316030:P793H;ENSP00000377013:P415H	ENSP00000316030:P793H	P	+	2	0	COL19A1	70929987	0.996000	0.38824	0.971000	0.41717	0.976000	0.68499	3.702000	0.54800	2.871000	0.98454	0.655000	0.94253	CCC		PASS	0.448	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			5	31	5	31	---	---	---	---
PHIP	55023	broad.mit.edu	37	6	79672925	79672925	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr6:79672925C>A	ENST00000275034.4	-	30	3591	c.3424G>T	c.(3424-3426)Ggt>Tgt	p.G1142C	PHIP_ENST00000479165.1_5'UTR|AL356776.1_ENST00000516160.2_RNA	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1142					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.G1142C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CTGCACTCACCATCAGTTAAA	0.383																																						uc003pir.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(3424-3426)GGT>TGT		pleckstrin homology domain interacting protein							181.0	169.0	173.0					6																	79672925		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79672925C>A	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.3424G>T	6.37:g.79672925C>A	ENSP00000275034:p.Gly1142Cys					PHIP_uc003piq.2_Missense_Mutation_p.G166C|PHIP_uc011dyp.1_Missense_Mutation_p.G1141C|PHIP_uc003pio.3_Missense_Mutation_p.G28C	p.G1142C	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	30	3650	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1142					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.3424G>T	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526337	0.44969	.	.	ENSG00000146247	ENST00000275034	T	0.39592	1.07	5.89	-0.0401	0.13873	.	1.426040	0.04198	N	0.329422	T	0.07324	0.0185	N	0.08118	0	0.23150	N	0.998218	B;B	0.15930	0.015;0.015	B;B	0.09377	0.004;0.004	T	0.18524	-1.0334	9	.	.	.	-7.0E-4	6.4505	0.21900	0.0:0.5525:0.116:0.3315	.	1142;1142	A7J992;Q8WWQ0	.;PHIP_HUMAN	C	1142	ENSP00000275034:G1142C	.	G	-	1	0	PHIP	79729644	0.010000	0.17322	0.372000	0.25991	0.883000	0.51084	1.467000	0.35321	-0.085000	0.12573	0.557000	0.71058	GGT		PASS	0.383	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			6	203	6	203	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90440607	90440607	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr6:90440607C>T	ENST00000369393.3	-	35	5093	c.4978G>A	c.(4978-4980)Gca>Aca	p.A1660T	MDN1_ENST00000428876.1_Missense_Mutation_p.A1660T			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1660					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.A1660T(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCTTTTCGTGCCAAAAGGGCT	0.403																																						uc003pnn.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)	10						c.(4978-4980)GCA>ACA		MDN1, midasin homolog							97.0	91.0	93.0					6																	90440607		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90440607C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.4978G>A	6.37:g.90440607C>T	ENSP00000358400:p.Ala1660Thr						p.A1660T	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	35	5094	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1660					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.4978G>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356674	0.82243	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03635	3.86;3.86	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.03608	0.0103	M	0.76328	2.33	0.58432	D	0.999998	B	0.26147	0.143	B	0.29663	0.105	T	0.39231	-0.9624	10	0.14656	T	0.56	.	19.4114	0.94675	0.0:1.0:0.0:0.0	.	1660	Q9NU22	MDN1_HUMAN	T	1660	ENSP00000358400:A1660T;ENSP00000413970:A1660T	ENSP00000358400:A1660T	A	-	1	0	MDN1	90497328	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.241000	0.72369	2.579000	0.87056	0.585000	0.79938	GCA		PASS	0.403	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			37	33	37	33	---	---	---	---
KLHL32	114792	broad.mit.edu	37	6	97562194	97562194	+	Missense_Mutation	SNP	G	G	T	rs143481422		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr6:97562194G>T	ENST00000369261.4	+	7	1526	c.1163G>T	c.(1162-1164)cGg>cTg	p.R388L	KLHL32_ENST00000536676.1_Missense_Mutation_p.R352L|KLHL32_ENST00000539200.1_Missense_Mutation_p.R319L|KLHL32_ENST00000544166.1_Intron	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	388								p.R388L(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		AAAAACTGCCGGGAGCATTTT	0.562																																						uc010kcm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1162-1164)CGG>CTG		kelch-like 32							43.0	41.0	42.0					6																	97562194		2202	4300	6502	SO:0001583	missense	114792							g.chr6:97562194G>T	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.1163G>T	6.37:g.97562194G>T	ENSP00000358265:p.Arg388Leu					KLHL32_uc003poy.2_Missense_Mutation_p.R388L|KLHL32_uc011ead.1_Missense_Mutation_p.R352L|KLHL32_uc003poz.2_Intron|KLHL32_uc011eae.1_Missense_Mutation_p.R319L|KLHL32_uc003ppa.2_Intron	p.R388L	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	7	1635	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	388			Kelch 2.		B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	c.1163G>T	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	G	32	5.158506	0.94686	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200	T;T;T	0.78481	-1.18;-1.18;-1.18	5.53	5.53	0.82687	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.93038	0.7784	H	0.98333	4.205	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.998;0.997;1.0;0.999	D	0.94942	0.8092	10	0.87932	D	0	.	19.663	0.95879	0.0:0.0:1.0:0.0	.	319;352;388;388	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	L	388;352;319	ENSP00000358265:R388L;ENSP00000440382:R352L;ENSP00000441527:R319L	ENSP00000358265:R388L	R	+	2	0	KLHL32	97668915	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.225000	0.95219	2.871000	0.98454	0.655000	0.94253	CGG		PASS	0.562	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		12	7	12	7	---	---	---	---
ENPP1	5167	broad.mit.edu	37	6	132206132	132206132	+	Silent	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr6:132206132C>A	ENST00000360971.2	+	23	2393	c.2373C>A	c.(2371-2373)gtC>gtA	p.V791V		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	791	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)	p.V739V(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	GAAATGGTGTCAATGTCGTCA	0.378																																					Colon(104;336 1535 5856 11019 33782)	uc011ecf.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)	4						c.(2371-2373)GTC>GTA		ectonucleotide pyrophosphatase/phosphodiesterase	Amifostine(DB01143)|Ribavirin(DB00811)						240.0	218.0	225.0					6																	132206132		2203	4300	6503	SO:0001819	synonymous_variant	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132206132C>A	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2373C>A	6.37:g.132206132C>A							p.V791V	NM_006208	NP_006199	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	23	2393	+	Breast(56;0.0505)		791			Nuclease.|Extracellular (Potential).		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Silent	SNP	ENST00000360971.2	37	c.2373C>A	CCDS5150.2																																																																																				PASS	0.378	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			13	17	13	17	---	---	---	---
ECT2L	345930	broad.mit.edu	37	6	139175174	139175174	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr6:139175174G>T	ENST00000423192.1	+	9	1242	c.1081G>T	c.(1081-1083)Ggt>Tgt	p.G361C	ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000367682.2_Missense_Mutation_p.G361C|ECT2L_ENST00000541398.1_Missense_Mutation_p.G292C			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	361							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G361C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CTATAAAATTGGTGTTAAAAA	0.363			"""N, Splice, Mis"""		ETP ALL																																	uc003qif.1				Rec	yes		6	6q24.1	345930		epithelial cell transforming sequence 2 oncogene-like			L					1	Substitution - Missense(1)		lung(1)		0						c.(1081-1083)GGT>TGT		epithelial cell transforming sequence 2							122.0	123.0	122.0					6																	139175174		1812	4066	5878	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139175174G>T		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.1081G>T	6.37:g.139175174G>T	ENSP00000387388:p.Gly361Cys					ECT2L_uc011edq.1_Missense_Mutation_p.G292C	p.G361C	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN			8	1184	+			361					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.1081G>T	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536853	0.27475	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.75260	0.2;0.2;-0.92	5.71	4.82	0.62117	.	0.772349	0.10218	N	0.701212	T	0.47097	0.1427	L	0.41027	1.25	0.26990	N	0.965168	B;B	0.24368	0.102;0.062	B;B	0.25759	0.063;0.028	T	0.42599	-0.9442	10	0.38643	T	0.18	5.7115	7.1786	0.25760	0.0855:0.0:0.7367:0.1777	.	292;361	F5H7S9;Q008S8	.;ECT2L_HUMAN	C	361;361;292	ENSP00000387388:G361C;ENSP00000356655:G361C;ENSP00000442307:G292C	ENSP00000356655:G361C	G	+	1	0	ECT2L	139216867	1.000000	0.71417	0.981000	0.43875	0.903000	0.53119	2.261000	0.43276	1.366000	0.46076	0.655000	0.94253	GGT		PASS	0.363	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		5	83	5	83	---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157522468	157522468	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr6:157522468G>T	ENST00000350026.5	+	17	4702	c.4701G>T	c.(4699-4701)atG>atT	p.M1567I	ARID1B_ENST00000367148.1_Missense_Mutation_p.M1620I|ARID1B_ENST00000346085.5_Missense_Mutation_p.M1580I|ARID1B_ENST00000275248.4_Missense_Mutation_p.M1562I	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1567	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.M1580I(1)|p.M1562I(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTATGAAGATGCAGAAGGTCA	0.597																																						uc003qqn.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(4684-4686)ATG>ATT		AT rich interactive domain 1B (SWI1-like)							119.0	114.0	116.0					6																	157522468		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157522468G>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4701G>T	6.37:g.157522468G>T	ENSP00000055163:p.Met1567Ile					ARID1B_uc003qqo.2_Missense_Mutation_p.M1522I|ARID1B_uc003qqp.2_Missense_Mutation_p.M1509I	p.M1562I	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	18	4838	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1567			Pro-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.4686G>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300549	0.60195	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02280	4.71;4.71;4.7;4.7;4.36	4.94	4.94	0.65067	.	0.079831	0.85682	D	0.000000	T	0.01730	0.0055	L	0.40543	1.245	0.80722	D	1	P;P;P	0.42941	0.493;0.794;0.627	B;B;B	0.43052	0.107;0.406;0.216	T	0.70219	-0.4932	10	0.24483	T	0.36	.	18.5459	0.91045	0.0:0.0:1.0:0.0	.	1567;1580;1562	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	I	1580;1567;1620;1562;1089	ENSP00000344546:M1580I;ENSP00000055163:M1567I;ENSP00000356116:M1620I;ENSP00000275248:M1562I;ENSP00000412835:M1089I	ENSP00000275248:M1562I	M	+	3	0	ARID1B	157564160	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.420000	0.97426	2.459000	0.83118	0.655000	0.94253	ATG		PASS	0.597	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		34	44	34	44	---	---	---	---
PLG	5340	broad.mit.edu	37	6	161139439	161139439	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr6:161139439G>T	ENST00000308192.9	+	8	964	c.901G>T	c.(901-903)Gca>Tca	p.A301S		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	301	Kringle 3. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.A301S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GCACTGGAGTGCACAGACCCC	0.527																																						uc003qtm.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(901-903)GCA>TCA		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						152.0	151.0	151.0					6																	161139439		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161139439G>T	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.901G>T	6.37:g.161139439G>T	ENSP00000308938:p.Ala301Ser						p.A301S	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	8	964	+			301			Kringle 3.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.901G>T	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	G	0.364	-0.937975	0.02340	.	.	ENSG00000122194	ENST00000308192	T	0.59224	0.28	5.3	2.5	0.30297	Kringle (4);Kringle-like fold (1);	0.742447	0.10706	U	0.643417	T	0.04861	0.0131	N	0.00142	-2.005	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.41680	-0.9495	10	0.10377	T	0.69	.	5.774	0.18269	0.2357:0.0:0.6255:0.1388	.	301	P00747	PLMN_HUMAN	S	301	ENSP00000308938:A301S	ENSP00000308938:A301S	A	+	1	0	PLG	161059429	0.000000	0.05858	0.044000	0.18714	0.326000	0.28443	0.854000	0.27791	0.728000	0.32382	0.655000	0.94253	GCA		PASS	0.527	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		27	24	27	24	---	---	---	---
AGPAT4	56895	broad.mit.edu	37	6	161587445	161587445	+	Silent	SNP	C	C	A	rs367561400		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr6:161587445C>A	ENST00000320285.4	-	3	395	c.183G>T	c.(181-183)ctG>ctT	p.L61L	AGPAT4_ENST00000366911.5_Intron|AGPAT4_ENST00000366908.5_Silent_p.L61L|AGPAT4_ENST00000366906.5_5'UTR|AGPAT4_ENST00000366905.3_Silent_p.L61L|AGPAT4_ENST00000457520.2_Intron	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	61					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.L61L(1)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		GCAGCATCACCAGCTCTGGAA	0.572																																						uc003qtr.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(181-183)CTG>CTT		1-acylglycerol-3-phosphate O-acyltransferase 4							71.0	65.0	67.0					6																	161587445		2203	4300	6503	SO:0001819	synonymous_variant	56895				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	g.chr6:161587445C>A	AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20885	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, delta"""	614795	"""1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"""				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.183G>T	6.37:g.161587445C>A						AGPAT4_uc003qts.1_Intron|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_RNA|AGPAT4_uc011egc.1_Silent_p.L61L|AGPAT4_uc011egd.1_5'UTR|AGPAT4_uc011ege.1_Intron	p.L61L	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)	3	410	-		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)	61					B4DSF9|Q5TEF0	Silent	SNP	ENST00000320285.4	37	c.183G>T	CCDS5280.1																																																																																				PASS	0.572	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133		12	17	12	17	---	---	---	---
USP42	84132	broad.mit.edu	37	7	6189676	6189676	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr7:6189676G>A	ENST00000306177.5	+	13	2007	c.1849G>A	c.(1849-1851)Gag>Aag	p.E617K		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	617					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.E617K(1)|p.E745K(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		GGACTCTGACGAGGAGTCAAA	0.597																																						uc011jwo.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|pancreas(1)|breast(1)	5						c.(1849-1851)GAG>AAG		ubiquitin specific peptidase 42							29.0	34.0	32.0					7																	6189676		2007	4173	6180	SO:0001583	missense	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6189676G>A	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.1849G>A	7.37:g.6189676G>A	ENSP00000301962:p.Glu617Lys					USP42_uc010kth.1_Missense_Mutation_p.E550K|USP42_uc011jwp.1_Missense_Mutation_p.E617K|USP42_uc011jwq.1_Missense_Mutation_p.E424K|USP42_uc011jwr.1_Missense_Mutation_p.E462K	p.E617K	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	13	1972	+		Ovarian(82;0.0423)	617					A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	ENST00000306177.5	37	c.1849G>A	CCDS47535.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960789	0.92791	.	.	ENSG00000106346	ENST00000306177;ENST00000426246	T;T	0.16897	2.31;2.72	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000002	T	0.30665	0.0772	L	0.32530	0.975	0.43527	D	0.995806	D;D;D;D	0.76494	0.999;0.999;0.998;0.992	P;D;P;B	0.64506	0.846;0.926;0.846;0.401	T	0.00956	-1.1501	10	0.25106	T	0.35	.	19.6963	0.96028	0.0:0.0:1.0:0.0	.	580;617;617;617	A4D2N7;Q9H9J4-2;Q9H9J4;A4D2N6	.;.;UBP42_HUMAN;.	K	617;463	ENSP00000301962:E617K;ENSP00000408217:E463K	ENSP00000301962:E617K	E	+	1	0	USP42	6156202	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	5.070000	0.64376	2.659000	0.90383	0.591000	0.81541	GAG		PASS	0.597	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		9	13	9	13	---	---	---	---
MEOX2	4223	broad.mit.edu	37	7	15725863	15725863	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr7:15725863G>T	ENST00000262041.5	-	1	574	c.165C>A	c.(163-165)aaC>aaA	p.N55K	AC005550.5_ENST00000438923.1_lincRNA|AC005550.4_ENST00000442176.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	55					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)	p.N55K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TGCCCTCTTCGTTGGGGTATC	0.572																																					Esophageal Squamous(140;197 1769 16409 18257 29929)	uc003stc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(163-165)AAC>AAA		mesenchyme homeobox 2							57.0	51.0	53.0					7																	15725863		2203	4300	6503	SO:0001583	missense	4223				blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:15725863G>T		CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"""Homeoboxes / ANTP class : HOXL subclass"""	7014	protein-coding gene	gene with protein product	"""growth arrest-specific homeobox"""	600535	"""mesenchyme homeo box 2 (growth arrest-specific homeo box)"", ""mesenchyme homeobox 2 (growth arrest-specific homeo box)"""	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.165C>A	7.37:g.15725863G>T	ENSP00000262041:p.Asn55Lys					MEOX2_uc011jxw.1_Missense_Mutation_p.N55K	p.N55K	NM_005924	NP_005915	P50222	MEOX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)	1	446	-			55					B2R8I7|O75263|Q9UPL6	Missense_Mutation	SNP	ENST00000262041.5	37	c.165C>A	CCDS34605.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.376083	0.24857	.	.	ENSG00000106511	ENST00000262041	D	0.88896	-2.44	4.88	0.709	0.18150	.	0.284705	0.39544	N	0.001326	T	0.71821	0.3385	N	0.22421	0.69	0.42532	D	0.993049	B	0.18968	0.032	B	0.19666	0.026	T	0.57728	-0.7761	10	0.05959	T	0.93	-24.9427	0.7637	0.01011	0.3879:0.1607:0.287:0.1644	.	55	P50222	MEOX2_HUMAN	K	55	ENSP00000262041:N55K	ENSP00000262041:N55K	N	-	3	2	MEOX2	15692388	0.984000	0.35163	1.000000	0.80357	0.997000	0.91878	0.233000	0.17911	0.570000	0.29347	0.650000	0.86243	AAC		PASS	0.572	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2	NM_005924		10	8	10	8	---	---	---	---
BMPER	168667	broad.mit.edu	37	7	34094843	34094843	+	Silent	SNP	T	T	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr7:34094843T>C	ENST00000297161.2	+	10	1229	c.855T>C	c.(853-855)tgT>tgC	p.C285C	BMPER_ENST00000426693.1_Silent_p.C285C	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	285	VWFC 4. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.C285C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AGGAGGGCTGTTGTGAAGAGT	0.498																																						uc011kap.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(853-855)TGT>TGC		BMP-binding endothelial regulator precursor							118.0	112.0	114.0					7																	34094843		2203	4300	6503	SO:0001819	synonymous_variant	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34094843T>C		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.855T>C	7.37:g.34094843T>C							p.C285C	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			9	969	+			285			VWFC 4.		A8K1P8|Q8TF36	Silent	SNP	ENST00000297161.2	37	c.855T>C	CCDS5442.1																																																																																				PASS	0.498	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		31	74	31	74	---	---	---	---
SEPT7	989	broad.mit.edu	37	7	35919506	35919506	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr7:35919506G>T	ENST00000435235.1	+	6	859	c.427G>T	c.(427-429)Gca>Tca	p.A143S	SEPT7_ENST00000350320.6_Missense_Mutation_p.A195S|SEPT7_ENST00000494488.2_Missense_Mutation_p.A182S|SEPT7_ENST00000469679.2_Missense_Mutation_p.A195S|SEPT7_ENST00000475109.1_3'UTR|SEPT7_ENST00000399034.2_Missense_Mutation_p.A197S|SEPT7_ENST00000399035.3_Missense_Mutation_p.A195S|SEPT7_ENST00000432293.2_5'Flank			Q16181	SEPT7_HUMAN	septin 7	196	Septin-type G.				cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein heterooligomerization (GO:0051291)|regulation of embryonic cell shape (GO:0016476)	actin cytoskeleton (GO:0015629)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|septin complex (GO:0031105)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.A197S(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						TATTGCCAAAGCAGACACACT	0.363																																						uc010kxc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(586-588)GCA>TCA		cell division cycle 10 isoform 1							43.0	37.0	39.0					7																	35919506		1860	4095	5955	SO:0001583	missense	989				cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	g.chr7:35919506G>T	S72008	CCDS75582.1	7p14.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000122545	ENSG00000122545		"""Septins"""	1717	protein-coding gene	gene with protein product		603151	"""CDC10 cell division cycle 10 homolog (S. cerevisiae)"""	CDC10		8037772	Standard	NM_001788		Approved	CDC3, SEPT7A	uc011kau.2	Q16181	OTTHUMG00000155063	ENST00000435235.1:c.427G>T	7.37:g.35919506G>T	ENSP00000413507:p.Ala143Ser					SEPT7_uc011kat.1_Missense_Mutation_p.A195S|SEPT7_uc011kau.1_Missense_Mutation_p.A160S|SEPT7_uc011kav.1_Missense_Mutation_p.A143S|SEPT7_uc003tey.2_Missense_Mutation_p.A44S	p.A196S	NM_001788	NP_001779	Q16181	SEPT7_HUMAN			6	779	+			196			GTP (By similarity).		Q52M76|Q6NX50	Missense_Mutation	SNP	ENST00000435235.1	37	c.586G>T		.	.	.	.	.	.	.	.	.	.	G	33	5.254969	0.95336	.	.	ENSG00000122545	ENST00000435235;ENST00000399034;ENST00000350320;ENST00000469679;ENST00000399035;ENST00000537785;ENST00000493670;ENST00000494488	T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59	5.54	5.54	0.83059	.	0.000000	0.85682	U	0.000000	T	0.67979	0.2951	L	0.59436	1.845	0.80722	D	1	P;B;P	0.43938	0.822;0.431;0.79	P;P;P	0.56960	0.81;0.631;0.745	T	0.65117	-0.6246	10	0.48119	T	0.1	.	19.9025	0.96993	0.0:0.0:1.0:0.0	.	141;195;196	B4DNE4;E7EPK1;Q16181	.;.;SEPT7_HUMAN	S	143;197;195;195;195;141;143;182	ENSP00000413507:A143S;ENSP00000381992:A197S;ENSP00000344868:A195S;ENSP00000444501:A195S;ENSP00000381993:A195S;ENSP00000438395:A182S	ENSP00000344868:A195S	A	+	1	0	SEPT7	35886031	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.775000	0.95449	0.650000	0.86243	GCA		PASS	0.363	SEPT7-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000338285.1	NM_001788		18	25	18	25	---	---	---	---
AOAH	313	broad.mit.edu	37	7	36634000	36634000	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr7:36634000C>A	ENST00000258749.5	-	12	1282	c.883G>T	c.(883-885)Gag>Tag	p.E295*	AOAH_ENST00000431169.1_Nonsense_Mutation_p.E295*|AOAH_ENST00000538464.1_Nonsense_Mutation_p.E17*|AOAH_ENST00000535891.1_Nonsense_Mutation_p.E263*	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	295					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)	p.E295*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						CAGTCAAGCTCGTTGGTAAGG	0.403																																						uc003tfh.3																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(883-885)GAG>TAG		acyloxyacyl hydrolase precursor							126.0	122.0	123.0					7																	36634000		2203	4300	6503	SO:0001587	stop_gained	313				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	g.chr7:36634000C>A	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.883G>T	7.37:g.36634000C>A	ENSP00000258749:p.Glu295*					AOAH_uc010kxf.2_Nonsense_Mutation_p.E295*|AOAH_uc011kba.1_Nonsense_Mutation_p.E263*	p.E295*	NM_001637	NP_001628	P28039	AOAH_HUMAN			12	1284	-			295					A4D1Y5|B7Z490|Q53F13	Nonsense_Mutation	SNP	ENST00000258749.5	37	c.883G>T	CCDS5448.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469343	0.84533	.	.	ENSG00000136250	ENST00000538464;ENST00000535891;ENST00000258749;ENST00000431169;ENST00000544647	.	.	.	4.9	4.9	0.64082	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.4426	0.61123	0.0:1.0:0.0:0.0	.	.	.	.	X	17;263;295;295;295	.	ENSP00000258749:E295X	E	-	1	0	AOAH	36600525	1.000000	0.71417	0.747000	0.31113	0.151000	0.21798	3.711000	0.54868	2.553000	0.86117	0.557000	0.71058	GAG		PASS	0.403	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637		4	107	4	107	---	---	---	---
GPR141	353345	broad.mit.edu	37	7	37780665	37780665	+	Missense_Mutation	SNP	C	C	A	rs373247764		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr7:37780665C>A	ENST00000447769.1	+	4	959	c.670C>A	c.(670-672)Cag>Aag	p.Q224K	GPR141_ENST00000334425.1_Missense_Mutation_p.Q224K|GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Q224*(1)|p.Q224K(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTTCTGGGCTCAGCTGAAAAA	0.438																																						uc003tfm.1																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(2)	ovary(3)	3						c.(670-672)CAG>AAG		G protein-coupled receptor 141							167.0	166.0	166.0					7																	37780665		2203	4300	6503	SO:0001583	missense	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780665C>A	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.670C>A	7.37:g.37780665C>A	ENSP00000390410:p.Gln224Lys					uc003tfl.2_Intron	p.Q224K	NM_181791	NP_861456	Q7Z602	GP141_HUMAN			1	670	+			224			Cytoplasmic (Potential).		A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	c.670C>A	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652348	0.88056	.	.	ENSG00000187037	ENST00000447769;ENST00000334425	T;T	0.36699	1.24;1.24	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.063724	0.64402	D	0.000004	T	0.56016	0.1957	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.52830	-0.8523	10	0.02654	T	1	-19.0544	18.0556	0.89363	0.0:1.0:0.0:0.0	.	224	Q7Z602	GP141_HUMAN	K	224	ENSP00000390410:Q224K;ENSP00000334540:Q224K	ENSP00000334540:Q224K	Q	+	1	0	GPR141	37747190	1.000000	0.71417	0.889000	0.34880	0.995000	0.86356	7.289000	0.78701	2.882000	0.98803	0.655000	0.94253	CAG		PASS	0.438	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		28	74	28	74	---	---	---	---
ZNF479	90827	broad.mit.edu	37	7	57187643	57187643	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr7:57187643G>T	ENST00000331162.4	-	5	1749	c.1479C>A	c.(1477-1479)taC>taA	p.Y493*		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	493					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.Y493*(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CTTCACATTTGTAGGGTTTCT	0.388																																						uc010kzo.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1477-1479)TAC>TAA		zinc finger protein 479							38.0	38.0	38.0					7																	57187643		2057	4227	6284	SO:0001587	stop_gained	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57187643G>T	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1479C>A	7.37:g.57187643G>T	ENSP00000333776:p.Tyr493*						p.Y493*	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1750	-			493			C2H2-type 12.			Nonsense_Mutation	SNP	ENST00000331162.4	37	c.1479C>A	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	g	19.88	3.908701	0.72868	.	.	ENSG00000185177	ENST00000331162	.	.	.	0.888	-0.254	0.12992	.	.	.	.	.	.	.	.	.	.	.	0.49483	D	0.999793	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.7596	0.13100	0.2877:0.0:0.7123:0.0	.	.	.	.	X	493	.	ENSP00000333776:Y493X	Y	-	3	2	ZNF479	57191585	0.000000	0.05858	0.297000	0.24988	0.273000	0.26683	-0.571000	0.05889	0.390000	0.25115	0.391000	0.25812	TAC		PASS	0.388	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		11	24	11	24	---	---	---	---
GUSB	2990	broad.mit.edu	37	7	65444483	65444483	+	Silent	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr7:65444483G>A	ENST00000304895.4	-	4	757	c.627C>T	c.(625-627)ttC>ttT	p.F209F	GUSB_ENST00000421103.1_Intron|GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000345660.6_Silent_p.F209F	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	209					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)	p.F209F(1)		breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CAGCGTAGTTGAAAAAGTCAA	0.532																																						uc003tun.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(625-627)TTC>TTT		glucuronidase, beta precursor							111.0	104.0	107.0					7																	65444483		2203	4300	6503	SO:0001819	synonymous_variant	2990				glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding	g.chr7:65444483G>A	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.627C>T	7.37:g.65444483G>A						GUSB_uc011kdt.1_Intron|GUSB_uc010kzw.1_Missense_Mutation_p.S38L	p.F209F	NM_000181	NP_000172	P08236	BGLR_HUMAN			4	703	-			209					B4E1F6|E9PCV0|Q549U0|Q96CL9	Silent	SNP	ENST00000304895.4	37	c.627C>T	CCDS5530.1																																																																																				PASS	0.532	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		26	38	26	38	---	---	---	---
WBSCR17	64409	broad.mit.edu	37	7	71177096	71177096	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr7:71177096G>T	ENST00000333538.5	+	11	2396	c.1762G>T	c.(1762-1764)Ggt>Tgt	p.G588C	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	588	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.G588C(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CAGCTGCACAGGTCAGAGGTG	0.627																																						uc003tvy.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(1762-1764)GGT>TGT		UDP-GalNAc:polypeptide							71.0	68.0	69.0					7																	71177096		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71177096G>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1762G>T	7.37:g.71177096G>T	ENSP00000329654:p.Gly588Cys					WBSCR17_uc003tvz.2_Missense_Mutation_p.G287C	p.G588C	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			11	1762	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	588			Ricin B-type lectin.|Lumenal (Potential).		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.1762G>T	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449662	0.84101	.	.	ENSG00000185274	ENST00000333538	T	0.37915	1.17	5.31	5.31	0.75309	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.85682	D	0.000000	T	0.65964	0.2742	M	0.84846	2.72	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.71672	-0.4522	10	0.72032	D	0.01	.	17.9557	0.89068	0.0:0.0:1.0:0.0	.	588	Q6IS24	GLTL3_HUMAN	C	588	ENSP00000329654:G588C	ENSP00000329654:G588C	G	+	1	0	WBSCR17	70815032	1.000000	0.71417	0.708000	0.30435	0.967000	0.64934	7.799000	0.85936	2.488000	0.83962	0.563000	0.77884	GGT		PASS	0.627	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		12	39	12	39	---	---	---	---
HIP1	3092	broad.mit.edu	37	7	75168666	75168666	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr7:75168666C>A	ENST00000336926.6	-	30	3064	c.3038G>T	c.(3037-3039)gGt>gTt	p.G1013V	HIP1_ENST00000434438.2_Missense_Mutation_p.G962V	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	1013					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)	p.G1015V(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTCAGCAACACCAGCAAGCTC	0.532			T	PDGFRB	CMML																																	uc003uds.1				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		1	Substitution - Missense(1)		lung(1)	lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						c.(3037-3039)GGT>GTT		huntingtin interacting protein 1							315.0	301.0	306.0					7																	75168666		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75168666C>A	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.3038G>T	7.37:g.75168666C>A	ENSP00000336747:p.Gly1013Val					HIP1_uc011kfz.1_Missense_Mutation_p.G839V	p.G1013V	NM_005338	NP_005329	O00291	HIP1_HUMAN			30	3079	-			1013					B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.3038G>T	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430453	0.83776	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.17528	2.29;2.27	5.31	4.43	0.53597	.	0.185713	0.48767	D	0.000177	T	0.42177	0.1191	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.974;1.0	P;D	0.78314	0.677;0.991	T	0.42515	-0.9447	10	0.72032	D	0.01	-18.2477	13.1922	0.59717	0.0:0.9218:0.0:0.0782	.	962;1013	E7ES17;O00291	.;HIP1_HUMAN	V	1013;962	ENSP00000336747:G1013V;ENSP00000410300:G962V	ENSP00000336747:G1013V	G	-	2	0	HIP1	75006602	1.000000	0.71417	0.153000	0.22517	0.927000	0.56198	7.488000	0.81441	1.379000	0.46325	0.655000	0.94253	GGT		PASS	0.532	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		99	234	99	234	---	---	---	---
CACNA2D1	781	broad.mit.edu	37	7	81978903	81978903	+	Missense_Mutation	SNP	C	C	T	rs79543314		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr7:81978903C>T	ENST00000356253.5	-	2	413	c.158G>A	c.(157-159)gGa>gAa	p.G53E	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.G53E|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.G53E			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	53					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.G53E(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CTGATTGACTCCACTTGCTGT	0.368																																						uc003uhr.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)	6						c.(157-159)GGA>GAA		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						212.0	195.0	200.0					7																	81978903		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81978903C>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.158G>A	7.37:g.81978903C>T	ENSP00000348589:p.Gly53Glu						p.G53E	NM_000722	NP_000713	P54289	CA2D1_HUMAN			2	414	-			53			Extracellular (Potential).		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.158G>A		.	.	.	.	.	.	.	.	.	.	C	23.2	4.393479	0.83011	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	T;T;T	0.22743	3.24;3.22;1.94	6.05	6.05	0.98169	.	0.077703	0.51477	D	0.000085	T	0.46927	0.1418	M	0.66939	2.045	0.80722	D	1	D	0.69078	0.997	D	0.66979	0.948	T	0.28744	-1.0034	10	0.72032	D	0.01	-19.0599	19.3727	0.94495	0.0:1.0:0.0:0.0	.	53	P54289-2	.	E	53	ENSP00000349320:G53E;ENSP00000348589:G53E;ENSP00000405395:G53E	ENSP00000284088:G53E	G	-	2	0	CACNA2D1	81816839	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.322000	0.65852	2.878000	0.98634	0.650000	0.86243	GGA		PASS	0.368	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				22	54	22	54	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82764209	82764209	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr7:82764209C>A	ENST00000333891.9	-	3	2994	c.2657G>T	c.(2656-2658)gGc>gTc	p.G886V	PCLO_ENST00000423517.2_Missense_Mutation_p.G886V	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.G886V(2)|p.G832V(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GACAGTTTGGCCAGCGGTAGG	0.527																																						uc003uhx.2																			3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(2656-2658)GGC>GTC		piccolo isoform 1							204.0	204.0	204.0					7																	82764209		1988	4161	6149	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82764209C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2657G>T	7.37:g.82764209C>A	ENSP00000334319:p.Gly886Val					PCLO_uc003uhv.2_Missense_Mutation_p.G886V	p.G886V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			3	2946	-			832			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.2657G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	9.057	0.993548	0.19043	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17370	2.3;2.28	6.07	5.14	0.70334	.	.	.	.	.	T	0.18087	0.0434	L	0.57536	1.79	0.80722	D	1	B;B	0.31548	0.091;0.328	B;B	0.29598	0.054;0.104	T	0.01874	-1.1256	9	0.87932	D	0	.	9.9954	0.41896	0.1211:0.6149:0.264:0.0	.	886;886	Q9Y6V0-5;Q9Y6V0-6	.;.	V	832;886;886	ENSP00000334319:G886V;ENSP00000388393:G886V	ENSP00000334319:G886V	G	-	2	0	PCLO	82602145	0.465000	0.25815	1.000000	0.80357	0.871000	0.50021	1.413000	0.34725	2.884000	0.98904	0.655000	0.94253	GGC		PASS	0.527	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		54	114	54	114	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88965101	88965101	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr7:88965101G>C	ENST00000333190.4	+	4	3414	c.2805G>C	c.(2803-2805)aaG>aaC	p.K935N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	935							metal ion binding (GO:0046872)	p.K935N(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TACAAGCCAAGAAATGTCAAG	0.418										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(2803-2805)AAG>AAC		zinc finger protein 804B							120.0	128.0	125.0					7																	88965101		2202	4300	6502	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88965101G>C	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2805G>C	7.37:g.88965101G>C	ENSP00000329638:p.Lys935Asn	HNSCC(36;0.09)					p.K935N	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3343	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		935					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.2805G>C	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425679	0.62733	.	.	ENSG00000182348	ENST00000333190	T	0.08720	3.06	5.34	4.46	0.54185	.	0.082084	0.52532	D	0.000068	T	0.16385	0.0394	L	0.34521	1.04	0.38613	D	0.950953	D	0.76494	0.999	D	0.68765	0.96	T	0.02533	-1.1145	10	0.72032	D	0.01	-19.0195	10.0994	0.42495	0.1506:0.0:0.8494:0.0	.	935	A4D1E1	Z804B_HUMAN	N	935	ENSP00000329638:K935N	ENSP00000329638:K935N	K	+	3	2	ZNF804B	88803037	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.847000	0.55895	1.496000	0.48567	0.655000	0.94253	AAG		PASS	0.418	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		57	144	57	144	---	---	---	---
COL1A2	1278	broad.mit.edu	37	7	94057744	94057744	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr7:94057744C>G	ENST00000297268.6	+	50	4137	c.3666C>G	c.(3664-3666)gaC>gaG	p.D1222E		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1222	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.D1222E(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GCTCCAAGGACAAGAAACACG	0.463										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	1	Substitution - Missense(1)		lung(1)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(3664-3666)GAC>GAG		alpha 2 type I collagen precursor	Collagenase(DB00048)						79.0	79.0	79.0					7																	94057744		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94057744C>G	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3666C>G	7.37:g.94057744C>G	ENSP00000297268:p.Asp1222Glu	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.D1222E	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		50	4137	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		1222			Fibrillar collagen NC1.		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.3666C>G	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	1.154	-0.645798	0.03531	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.88431	-2.38	5.3	4.34	0.51931	Fibrillar collagen, C-terminal (3);	0.869388	0.10416	N	0.677316	T	0.74696	0.3750	N	0.05351	-0.065	0.25060	N	0.99107	B	0.02656	0.0	B	0.01281	0.0	T	0.56950	-0.7894	10	0.02654	T	1	.	10.8698	0.46877	0.1265:0.6612:0.2123:0.0	.	1222	P08123	CO1A2_HUMAN	E	1222;1223	ENSP00000297268:D1222E	ENSP00000297268:D1222E	D	+	3	2	COL1A2	93895680	0.991000	0.36638	0.974000	0.42286	0.213000	0.24496	1.046000	0.30354	2.861000	0.98227	0.655000	0.94253	GAC		PASS	0.463	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		18	34	18	34	---	---	---	---
SMURF1	57154	broad.mit.edu	37	7	98645444	98645444	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr7:98645444C>A	ENST00000361125.1	-	11	1412	c.1093G>T	c.(1093-1095)Gag>Tag	p.E365*	SMURF1_ENST00000361368.2_Nonsense_Mutation_p.E339*|AC004893.11_ENST00000482799.2_RNA|AC004893.11_ENST00000468960.2_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	365					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)	p.E365*(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TCCTCGTCCTCCAGAGAGCCC	0.572																																						uc003upu.1																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(1093-1095)GAG>TAG		Smad ubiquitination regulatory factor 1 isoform							125.0	130.0	128.0					7																	98645444		2203	4300	6503	SO:0001587	stop_gained	57154				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	g.chr7:98645444C>A	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.1093G>T	7.37:g.98645444C>A	ENSP00000354621:p.Glu365*					SMURF1_uc003upv.1_Nonsense_Mutation_p.E339*|SMURF1_uc003upt.2_Nonsense_Mutation_p.E339*	p.E365*	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		11	1413	-	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		365					A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Nonsense_Mutation	SNP	ENST00000361125.1	37	c.1093G>T	CCDS34690.1	.	.	.	.	.	.	.	.	.	.	C	38	6.969521	0.97971	.	.	ENSG00000198742	ENST00000361368;ENST00000361125	.	.	.	5.44	5.44	0.79542	.	0.090168	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.2699	0.94004	0.0:1.0:0.0:0.0	.	.	.	.	X	339;365	.	ENSP00000354621:E365X	E	-	1	0	SMURF1	98483380	1.000000	0.71417	0.977000	0.42913	0.684000	0.39900	7.622000	0.83099	2.527000	0.85204	0.563000	0.77884	GAG		PASS	0.572	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2	NM_020429		7	136	7	136	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100683152	100683152	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr7:100683152C>A	ENST00000306151.4	+	3	8519	c.8455C>A	c.(8455-8457)Cac>Aac	p.H2819N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2819	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.H2819N(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCTGTCAACCACACGCCAGT	0.493																																						uc003uxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(8455-8457)CAC>AAC		mucin 17 precursor							242.0	247.0	246.0					7																	100683152		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683152C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8455C>A	7.37:g.100683152C>A	ENSP00000302716:p.His2819Asn					MUC17_uc010lho.1_RNA	p.H2819N	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	8508	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2819			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|45.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8455C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	0.024	-1.387668	0.01194	.	.	ENSG00000169876	ENST00000306151	T	0.01902	4.57	0.911	-1.82	0.07857	.	.	.	.	.	T	0.00998	0.0033	N	0.08118	0	0.09310	N	1	P	0.38110	0.618	B	0.31337	0.128	T	0.38373	-0.9664	9	0.16420	T	0.52	.	4.0482	0.09783	0.3105:0.33:0.3595:0.0	.	2819	Q685J3	MUC17_HUMAN	N	2819	ENSP00000302716:H2819N	ENSP00000302716:H2819N	H	+	1	0	MUC17	100469872	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.760000	0.00030	-3.658000	0.00125	-3.891000	0.00017	CAC		PASS	0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		8	319	8	319	---	---	---	---
CUX1	1523	broad.mit.edu	37	7	101840336	101840336	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr7:101840336G>T	ENST00000292535.7	+	15	1683	c.1645G>T	c.(1645-1647)Gag>Tag	p.E549*	CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|SNORA48_ENST00000517015.1_RNA|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Nonsense_Mutation_p.E447*|CUX1_ENST00000549414.2_Nonsense_Mutation_p.E549*|CUX1_ENST00000360264.3_Nonsense_Mutation_p.E560*|CUX1_ENST00000546411.2_Nonsense_Mutation_p.E447*|CUX1_ENST00000550008.2_Nonsense_Mutation_p.E549*|CUX1_ENST00000560541.1_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	549					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.E549*(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CTCCGAGGGCGAGGAGATGGA	0.522																																						uc003uyx.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(1645-1647)GAG>TAG		cut-like homeobox 1 isoform a							111.0	113.0	112.0					7																	101840336		2203	4300	6503	SO:0001587	stop_gained	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101840336G>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.1645G>T	7.37:g.101840336G>T	ENSP00000292535:p.Glu549*					CUX1_uc003uys.3_Nonsense_Mutation_p.E560*|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	p.E549*	NM_181552	NP_853530	P39880	CUX1_HUMAN			15	1683	+			549			CUT 1.		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Nonsense_Mutation	SNP	ENST00000292535.7	37	c.1645G>T	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	37	6.079386	0.97262	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-30.4579	19.5583	0.95363	0.0:0.0:1.0:0.0	.	.	.	.	X	560;549;549;549;447;447	.	ENSP00000292535:E549X	E	+	1	0	CUX1	101627056	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.416000	0.97383	2.691000	0.91804	0.561000	0.74099	GAG		PASS	0.522	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		5	139	5	139	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103237091	103237091	+	Silent	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr7:103237091C>A	ENST00000428762.1	-	25	3510	c.3351G>T	c.(3349-3351)ctG>ctT	p.L1117L	RELN_ENST00000424685.2_Silent_p.L1117L|RELN_ENST00000343529.5_Silent_p.L1117L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1117					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.L1117L(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCCAACTCACCAGCTGTCTTT	0.448																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(3349-3351)CTG>CTT		reelin isoform a							75.0	76.0	75.0					7																	103237091		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103237091C>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3351G>T	7.37:g.103237091C>A						RELN_uc010liz.2_Silent_p.L1117L	p.L1117L	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	25	3511	-			1117					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.3351G>T	CCDS47680.1																																																																																				PASS	0.448	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		20	35	20	35	---	---	---	---
MET	4233	broad.mit.edu	37	7	116340287	116340287	+	Silent	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr7:116340287G>T	ENST00000318493.6	+	2	1336	c.1149G>T	c.(1147-1149)gtG>gtT	p.V383V	MET_ENST00000397752.3_Silent_p.V383V|MET_ENST00000436117.2_Silent_p.V383V			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V383V(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AAAACAATGTGAGATGTCTCC	0.408			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													uc003vij.2				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	papillary renal|head-neck squamous cell 		1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159						c.(1147-1149)GTG>GTT		met proto-oncogene isoform b precursor							114.0	106.0	109.0					7																	116340287		1917	4131	6048	SO:0001819	synonymous_variant	4233	Hereditary_Papillary_Renal_Carcinoma_(type_1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116340287G>T	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1149G>T	7.37:g.116340287G>T						MET_uc010lkh.2_Silent_p.V383V|MET_uc011knc.1_Silent_p.V383V|MET_uc011knd.1_Silent_p.V383V|MET_uc011kne.1_Silent_p.V383V|MET_uc011knf.1_Silent_p.V383V|MET_uc011kng.1_Silent_p.V383V|MET_uc011knh.1_Silent_p.V383V|MET_uc011kni.1_Silent_p.V383V|MET_uc003vii.1_Silent_p.V402V|MET_uc010lkg.2_Silent_p.V383V|MET_uc011kmz.1_Silent_p.V383V|MET_uc011kna.1_Silent_p.V383V|MET_uc011knb.1_Silent_p.V383V	p.V383V	NM_000245	NP_000236	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		2	1336	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	383			Extracellular (Potential).|Sema.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000318493.6	37	c.1149G>T	CCDS47689.1																																																																																				PASS	0.408	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			17	50	17	50	---	---	---	---
KCND2	3751	broad.mit.edu	37	7	119914843	119914843	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr7:119914843C>G	ENST00000331113.4	+	1	1122	c.157C>G	c.(157-159)Cag>Gag	p.Q53E		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	53					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.Q53E(2)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CACCCGCTTCCAGACGTGGCA	0.562																																						uc003vjj.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(157-159)CAG>GAG		potassium voltage-gated channel, Shal-related							129.0	136.0	134.0					7																	119914843		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119914843C>G	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.157C>G	7.37:g.119914843C>G	ENSP00000333496:p.Gln53Glu						p.Q53E	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			1	1122	+	all_neural(327;0.117)		53			Cytoplasmic (Potential).		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.157C>G	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	C	3.666	-0.068604	0.07228	.	.	ENSG00000184408	ENST00000331113	T	0.74947	-0.89	5.51	5.51	0.81932	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.49047	0.1534	N	0.01228	-0.945	0.53688	D	0.999975	B	0.06786	0.001	B	0.10450	0.005	T	0.51364	-0.8715	9	.	.	.	.	19.427	0.94746	0.0:1.0:0.0:0.0	.	53	Q9NZV8	KCND2_HUMAN	E	53	ENSP00000333496:Q53E	.	Q	+	1	0	KCND2	119702079	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.863000	0.62983	2.603000	0.88011	0.655000	0.94253	CAG		PASS	0.562	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		38	93	38	93	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128485260	128485260	+	Silent	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr7:128485260G>A	ENST00000325888.8	+	21	4002	c.3741G>A	c.(3739-3741)gcG>gcA	p.A1247A	FLNC_ENST00000346177.6_Silent_p.A1247A	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1247					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)	p.A1247A(1)		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						TGCAGCCTGCGGTCGATACCA	0.602																																						uc003vnz.3																			1	Substitution - coding silent(1)		lung(1)	breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(3739-3741)GCG>GCA		gamma filamin isoform a							43.0	48.0	47.0					7																	128485260		2163	4256	6419	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128485260G>A	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.3741G>A	7.37:g.128485260G>A						FLNC_uc003voa.3_Silent_p.A1247A	p.A1247A	NM_001458	NP_001449	Q14315	FLNC_HUMAN			21	3950	+			1247			Filamin 11.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.3741G>A	CCDS43644.1																																																																																				PASS	0.602	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			17	29	17	29	---	---	---	---
DGKI	9162	broad.mit.edu	37	7	137172389	137172389	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr7:137172389C>G	ENST00000288490.5	-	23	2349	c.2349G>C	c.(2347-2349)gaG>gaC	p.E783D	DGKI_ENST00000446122.1_Missense_Mutation_p.E765D|DGKI_ENST00000424189.2_Missense_Mutation_p.E786D|DGKI_ENST00000453654.2_Missense_Mutation_p.E483D	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	783					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.E783D(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TACGGCAAGTCTCCAAATCAC	0.363																																						uc003vtt.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(2347-2349)GAG>GAC		diacylglycerol kinase, iota							152.0	158.0	156.0					7																	137172389		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137172389C>G	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2349G>C	7.37:g.137172389C>G	ENSP00000288490:p.Glu783Asp					DGKI_uc003vtu.2_Missense_Mutation_p.E483D	p.E783D	NM_004717	NP_004708	O75912	DGKI_HUMAN			23	2350	-			783					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.2349G>C	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826554	0.71143	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.37752	1.73;1.18;1.42	5.9	2.61	0.31194	.	0.048660	0.85682	N	0.000000	T	0.51363	0.1670	M	0.68593	2.085	0.51767	D	0.999937	D;D	0.69078	0.997;0.997	D;D	0.65443	0.935;0.935	T	0.49485	-0.8935	10	0.49607	T	0.09	.	9.4571	0.38760	0.0:0.7193:0.1253:0.1553	.	483;783	E9PFX6;O75912	.;DGKI_HUMAN	D	483;731;786;783;765	ENSP00000392161:E483D;ENSP00000288490:E783D;ENSP00000399131:E765D	ENSP00000288490:E783D	E	-	3	2	DGKI	136822929	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.904000	0.39868	0.806000	0.34183	0.650000	0.86243	GAG		PASS	0.363	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		55	145	55	145	---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138603107	138603107	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr7:138603107G>T	ENST00000422774.1	-	2	1313	c.1265C>A	c.(1264-1266)gCg>gAg	p.A422E	KIAA1549_ENST00000242365.4_Missense_Mutation_p.A372E|KIAA1549_ENST00000440172.1_Missense_Mutation_p.A422E			Q9HCM3	K1549_HUMAN	KIAA1549	422						integral component of membrane (GO:0016021)		p.A372E(1)|p.A422E(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGTGCAGGCCGCACACCAAGT	0.557			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	2	Substitution - Missense(2)		lung(2)	central_nervous_system(229)|pancreas(1)	230						c.(1264-1266)GCG>GAG		hypothetical protein LOC57670 isoform 1							110.0	108.0	109.0					7																	138603107		2076	4212	6288	SO:0001583	missense	57670					integral to membrane		g.chr7:138603107G>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.1265C>A	7.37:g.138603107G>T	ENSP00000416040:p.Ala422Glu					KIAA1549_uc003vuk.3_Missense_Mutation_p.A372E|KIAA1549_uc011kqj.1_Missense_Mutation_p.A422E	p.A422E	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			2	1314	-			422					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.1265C>A	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.300622	0.23650	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.23552	1.9;1.9;1.9	4.85	-9.71	0.00518	.	2.524220	0.01293	N	0.010095	T	0.13756	0.0333	N	0.14661	0.345	0.09310	N	1	P;P	0.42620	0.678;0.785	B;B	0.43754	0.247;0.43	T	0.20505	-1.0273	10	0.06625	T	0.88	.	10.2705	0.43481	0.6201:0.233:0.1469:0.0	.	422;422	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	E	422;372;422	ENSP00000406661:A422E;ENSP00000242365:A372E;ENSP00000416040:A422E	ENSP00000242365:A372E	A	-	2	0	KIAA1549	138253647	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.740000	0.01839	-2.811000	0.00347	-0.878000	0.02970	GCG		PASS	0.557	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			4	100	4	100	---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10464585	10464585	+	Silent	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr8:10464585G>T	ENST00000382483.3	-	4	7246	c.7023C>A	c.(7021-7023)acC>acA	p.T2341T		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2421					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.T2341T(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGTACATCCTGGTGGCCTTCC	0.542																																						uc003wtc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(7021-7023)ACC>ACA		retinitis pigmentosa 1-like 1							129.0	132.0	131.0					8																	10464585		1924	4117	6041	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10464585G>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.7023C>A	8.37:g.10464585G>T							p.T2341T	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	7252	-			2341					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.7023C>A	CCDS43708.1																																																																																				PASS	0.542	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			5	102	5	102	---	---	---	---
CNOT7	29883	broad.mit.edu	37	8	17090016	17090016	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr8:17090016C>G	ENST00000361272.4	-	6	947	c.649G>C	c.(649-651)Gag>Cag	p.E217Q	CNOT7_ENST00000523917.1_Missense_Mutation_p.E217Q	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	217					carbohydrate metabolic process (GO:0005975)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.E217Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		CGTTCCAGCTCTAACTGTTCT	0.388																																						uc003wxf.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(649-651)GAG>CAG		CCR4-NOT transcription complex, subunit 7							188.0	185.0	186.0					8																	17090016		2203	4300	6503	SO:0001583	missense	29883				carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr8:17090016C>G	L46722	CCDS6000.2, CCDS55202.1	8p22-p21.3	2008-08-07			ENSG00000198791	ENSG00000198791			14101	protein-coding gene	gene with protein product	"""BTG1 binding factor 1"""	604913		CAF1		10637334, 1538749, 17264152	Standard	XM_005273481		Approved		uc003wxg.1	Q9UIV1	OTTHUMG00000096971	ENST00000361272.4:c.649G>C	8.37:g.17090016C>G	ENSP00000355279:p.Glu217Gln					CNOT7_uc003wxg.1_Missense_Mutation_p.E217Q|CNOT7_uc003wxh.1_Missense_Mutation_p.E217Q	p.E217Q	NM_013354	NP_037486	Q9UIV1	CNOT7_HUMAN		Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)	6	817	-			217					A8MZM5|B3KMP1|B3KN35|D3DSP6|G3V108|Q7Z530	Missense_Mutation	SNP	ENST00000361272.4	37	c.649G>C	CCDS6000.2	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842203	0.51057	.	.	ENSG00000198791	ENST00000361272;ENST00000523917	T;T	0.44083	0.93;0.93	5.3	5.3	0.74995	Ribonuclease H-like (1);	0.047549	0.85682	D	0.000000	T	0.39860	0.1094	L	0.42008	1.315	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.10894	-1.0610	10	0.33940	T	0.23	-15.107	19.852	0.96744	0.0:1.0:0.0:0.0	.	217;217	G3V108;Q9UIV1	.;CNOT7_HUMAN	Q	217	ENSP00000355279:E217Q;ENSP00000429093:E217Q	ENSP00000355279:E217Q	E	-	1	0	CNOT7	17134387	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.861000	0.98227	0.655000	0.94253	GAG		PASS	0.388	CNOT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214038.1	NM_013354		34	45	34	45	---	---	---	---
VPS37A	137492	broad.mit.edu	37	8	17137762	17137762	+	Silent	SNP	T	T	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr8:17137762T>C	ENST00000324849.4	+	8	1530	c.856T>C	c.(856-858)Ttg>Ctg	p.L286L	VPS37A_ENST00000521829.1_Silent_p.L261L	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	286					cell death (GO:0008219)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.L286L(1)		autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		AAATCTCCTTTTGGAGCCCAG	0.318																																						uc003wxj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(856-858)TTG>CTG		hepatocellular carcinoma related protein 1							37.0	39.0	38.0					8																	17137762		2191	4290	6481	SO:0001819	synonymous_variant	137492				cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus		g.chr8:17137762T>C		CCDS6001.1, CCDS47811.1	8p22	2012-06-29	2006-04-04		ENSG00000155975	ENSG00000155975			24928	protein-coding gene	gene with protein product	"""hepatocellular carcinoma related protein 1"""	609927	"""vacuolar protein sorting 37A (yeast)"", ""polyglutamine binding protein 2"""	PQBP2		15240819, 15218037, 22717650	Standard	NM_152415		Approved	FLJ32642, HCRP1, SPG53	uc003wxj.3	Q8NEZ2	OTTHUMG00000130785	ENST00000324849.4:c.856T>C	8.37:g.17137762T>C						VPS37A_uc003wxk.2_Silent_p.L261L|VPS37A_uc003wxl.2_Silent_p.L63L	p.L286L	NM_152415	NP_689628	Q8NEZ2	VP37A_HUMAN		Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)	8	1209	+			286					Q336D5|Q6NW27|Q8N3D7|Q8TBL7|Q96DL9	Silent	SNP	ENST00000324849.4	37	c.856T>C	CCDS6001.1																																																																																				PASS	0.318	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253301.2	NM_152415		16	17	16	17	---	---	---	---
LGI3	203190	broad.mit.edu	37	8	22012074	22012074	+	Splice_Site	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr8:22012074G>A	ENST00000306317.2	-	3	638	c.349C>T	c.(349-351)Ctc>Ttc	p.L117F	LGI3_ENST00000424267.2_Splice_Site_p.L117F	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	117					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)	p.L117F(1)		endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CCCACACACAGATACTGCAGG	0.557																																						uc003xav.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(349-351)CTC>TTC		leucine-rich repeat LGI family, member 3							150.0	141.0	144.0					8																	22012074		2203	4300	6503	SO:0001630	splice_region_variant	203190				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		g.chr8:22012074G>A	AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.350+1C>T	8.37:g.22012074G>A						LGI3_uc010ltu.2_Missense_Mutation_p.L117F	p.L117F	NM_139278	NP_644807	Q8N145	LGI3_HUMAN		Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)	3	638	-			117			LRR 2.		A5PLP2|Q86TL4|Q8N296	Missense_Mutation	SNP	ENST00000306317.2	37	c.349C>T	CCDS6025.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869741	0.72065	.	.	ENSG00000168481	ENST00000306317;ENST00000424267;ENST00000517694	D;T;D	0.97850	-1.5;-1.49;-4.57	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000007	D	0.98861	0.9615	M	0.89840	3.065	0.19575	N	0.999964	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.939	D	0.95493	0.8571	10	0.87932	D	0	-35.8563	14.9559	0.71113	0.0:0.0:1.0:0.0	.	117;117	A5PLP2;Q8N145	.;LGI3_HUMAN	F	117;117;78	ENSP00000302297:L117F;ENSP00000399121:L117F;ENSP00000427817:L78F	ENSP00000302297:L117F	L	-	1	0	LGI3	22068019	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	1.333000	0.33816	2.611000	0.88343	0.655000	0.94253	CTC		PASS	0.557	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1		Missense_Mutation	24	27	24	27	---	---	---	---
POLR3D	661	broad.mit.edu	37	8	22102500	22102500	+	5'Flank	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr8:22102500C>T	ENST00000397802.4	+	0	0				MIR320A_ENST00000385302.1_RNA|POLR3D_ENST00000306433.4_5'Flank			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa						defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GCCCTCTCAACCCAGCTTTTC	0.647																																						hsa-mir-320a|MI0000542																			0					0															93.0	100.0	98.0					8																	22102500		1568	3582	5150	SO:0001631	upstream_gene_variant	407037							g.chr8:22102500C>T	M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"""RNA polymerase subunits"""	1080	protein-coding gene	gene with protein product		187280	"""BN51 (BHK21) temperature sensitivity complementing"""	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778		8.37:g.22102500C>T	Exception_encountered					uc011kzd.1_RNA|POLR3D_uc003xbl.2_5'Flank|POLR3D_uc003xbm.2_5'Flank|POLR3D_uc011kze.1_5'Flank										-								Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	RNA	SNP	ENST00000397802.4	37	c.57C>T	CCDS34858.1																																																																																				PASS	0.647	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375434.2	NM_001722		26	24	26	24	---	---	---	---
LYPLA1	10434	broad.mit.edu	37	8	54963627	54963627	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr8:54963627G>A	ENST00000316963.3	-	8	777	c.584C>T	c.(583-585)cCa>cTa	p.P195L	LYPLA1_ENST00000519926.1_5'Flank|LYPLA1_ENST00000343231.6_Missense_Mutation_p.P179L	NM_001279360.1|NM_006330.2	NP_001266289.1|NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I	195					fatty acid metabolic process (GO:0006631)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|nitric oxide metabolic process (GO:0046209)|protein depalmitoylation (GO:0002084)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	lysophospholipase activity (GO:0004622)|palmitoyl-(protein) hydrolase activity (GO:0008474)	p.P195L(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			CACATTGGCTGGATTCACCAA	0.423																																						uc003xry.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(583-585)CCA>CTA		lysophospholipase 1							148.0	140.0	143.0					8																	54963627		2203	4300	6503	SO:0001583	missense	10434				fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytosol	lysophospholipase activity|palmitoyl-(protein) hydrolase activity	g.chr8:54963627G>A	AF081281	CCDS6157.1, CCDS64899.1, CCDS75738.1, CCDS75739.1	8q11.23-q12.1	2008-05-15			ENSG00000120992	ENSG00000120992	3.1.1.5		6737	protein-coding gene	gene with protein product		605599				10064899	Standard	NM_006330		Approved	LPL1	uc003xry.3	O75608	OTTHUMG00000164313	ENST00000316963.3:c.584C>T	8.37:g.54963627G>A	ENSP00000320043:p.Pro195Leu					LYPLA1_uc011ldx.1_Missense_Mutation_p.P156L|LYPLA1_uc003xrz.2_Missense_Mutation_p.P174L	p.P195L	NM_006330	NP_006321	O75608	LYPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)		8	778	-		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	195					O43202|Q9UQF9	Missense_Mutation	SNP	ENST00000316963.3	37	c.584C>T	CCDS6157.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858060	0.91433	.	.	ENSG00000120992	ENST00000316963;ENST00000523751;ENST00000343231;ENST00000521171;ENST00000518546	T;T;T	0.23552	1.9;1.9;1.9	5.13	5.13	0.70059	Phospholipase/carboxylesterase/thioesterase (1);	0.051558	0.85682	D	0.000000	T	0.42944	0.1225	L	0.45581	1.43	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.991	D;D;P	0.85130	0.993;0.997;0.787	T	0.09422	-1.0675	10	0.11182	T	0.66	-11.3085	18.5688	0.91128	0.0:0.0:1.0:0.0	.	161;179;195	B4DP64;O75608-2;O75608	.;.;LYPA1_HUMAN	L	195;161;179;104;179	ENSP00000320043:P195L;ENSP00000344477:P179L;ENSP00000428729:P179L	ENSP00000320043:P195L	P	-	2	0	LYPLA1	55126180	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.757000	0.85209	2.553000	0.86117	0.650000	0.86243	CCA		PASS	0.423	LYPLA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378238.1			31	69	31	69	---	---	---	---
XKR4	114786	broad.mit.edu	37	8	56270408	56270408	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr8:56270408T>G	ENST00000327381.6	+	2	1077	c.977T>G	c.(976-978)gTa>gGa	p.V326G		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	326						integral component of membrane (GO:0016021)		p.V326G(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGCATTATCGTACAGACTCAT	0.463																																						uc003xsf.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)	2						c.(976-978)GTA>GGA		XK, Kell blood group complex subunit-related							110.0	95.0	100.0					8																	56270408		2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56270408T>G	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.977T>G	8.37:g.56270408T>G	ENSP00000328326:p.Val326Gly						p.V326G	NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		2	1009	+			326			Helical; (Potential).		Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.977T>G	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.385510	0.82792	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.68025	-0.3	5.96	5.96	0.96718	.	0.052527	0.85682	D	0.000000	T	0.74688	0.3749	L	0.52011	1.625	0.80722	D	1	D	0.65815	0.995	P	0.57679	0.825	T	0.76570	-0.2911	10	0.62326	D	0.03	-21.6268	16.4447	0.83919	0.0:0.0:0.0:1.0	.	326	Q5GH76	XKR4_HUMAN	G	326	ENSP00000328326:V326G	ENSP00000328326:V326G	V	+	2	0	XKR4	56432962	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.040000	0.89188	2.284000	0.76573	0.528000	0.53228	GTA		PASS	0.463	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		10	21	10	21	---	---	---	---
CNBD1	168975	broad.mit.edu	37	8	88249239	88249239	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr8:88249239C>A	ENST00000518476.1	+	6	721	c.670C>A	c.(670-672)Cca>Aca	p.P224T	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	224								p.P224T(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AAGTGATTCACCAGACTCGTT	0.373																																						uc003ydy.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(670-672)CCA>ACA		cyclic nucleotide binding domain containing 1							133.0	120.0	124.0					8																	88249239		1857	4094	5951	SO:0001583	missense	168975							g.chr8:88249239C>A	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.670C>A	8.37:g.88249239C>A	ENSP00000430073:p.Pro224Thr						p.P224T	NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN			6	718	+			224						Missense_Mutation	SNP	ENST00000518476.1	37	c.670C>A	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	C	2.152	-0.394148	0.04899	.	.	ENSG00000176571	ENST00000518476	T	0.16743	2.32	4.05	0.407	0.16371	Cyclic nucleotide-binding-like (1);	2.511740	0.01467	N	0.016121	T	0.06234	0.0161	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26224	-1.0109	10	0.14252	T	0.57	-0.1399	3.333	0.07091	0.5083:0.2317:0.26:0.0	.	224	Q8NA66	CNBD1_HUMAN	T	224	ENSP00000430073:P224T	ENSP00000430073:P224T	P	+	1	0	CNBD1	88318355	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.421000	0.07053	0.063000	0.16370	-0.262000	0.10625	CCA		PASS	0.373	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		22	67	22	67	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113484877	113484877	+	Nonsense_Mutation	SNP	T	T	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr8:113484877T>A	ENST00000297405.5	-	32	5582	c.5338A>T	c.(5338-5340)Aaa>Taa	p.K1780*	AC024996.1_ENST00000582664.1_RNA|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.K1676*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.K1780*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.K1740*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1780	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K1780*(1)|p.K1740*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGTAATTTTTTGGATAGTTT	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(5338-5340)AAA>TAA		CUB and Sushi multiple domains 3 isoform 1							108.0	103.0	105.0					8																	113484877		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113484877T>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5338A>T	8.37:g.113484877T>A	ENSP00000297405:p.Lys1780*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Nonsense_Mutation_p.K1052*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.K1740*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.K1676*	p.K1780*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			32	5497	-			1780			Extracellular (Potential).|CUB 10.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.5338A>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	47	13.400079	0.99739	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.07	5.07	0.68467	.	0.271361	0.31884	N	0.006917	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	14.6591	0.68855	0.0:0.0:0.0:1.0	.	.	.	.	X	1740;1780;1120;1676;1780	.	ENSP00000297405:K1780X	K	-	1	0	CSMD3	113554053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.957000	0.49137	2.125000	0.65367	0.482000	0.46254	AAA		PASS	0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		18	40	18	40	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113694737	113694737	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr8:113694737C>T	ENST00000297405.5	-	16	2855	c.2611G>A	c.(2611-2613)Gaa>Aaa	p.E871K	CSMD3_ENST00000455883.2_Missense_Mutation_p.E767K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E871K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E831K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	871	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E831K(1)|p.E871K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTAATTGTTTCTGTTCCCTGG	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(2611-2613)GAA>AAA		CUB and Sushi multiple domains 3 isoform 1							138.0	133.0	135.0					8																	113694737		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113694737C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2611G>A	8.37:g.113694737C>T	ENSP00000297405:p.Glu871Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.E143K|CSMD3_uc003ynt.2_Missense_Mutation_p.E831K|CSMD3_uc011lhx.1_Missense_Mutation_p.E767K	p.E871K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			16	2770	-			871			Sushi 4.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2611G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287394	0.80803	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	5.68	5.68	0.88126	Complement control module (2);Sushi/SCR/CCP (3);	0.142462	0.46442	D	0.000287	T	0.65428	0.2690	N	0.17674	0.51	0.47737	D	0.999501	P;P;D	0.76494	0.917;0.932;0.999	P;P;D	0.79784	0.539;0.669;0.993	T	0.56890	-0.7904	10	0.07175	T	0.84	.	19.7925	0.96464	0.0:1.0:0.0:0.0	.	767;871;831	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	831;871;211;767;871	ENSP00000345799:E831K;ENSP00000297405:E871K;ENSP00000341558:E211K;ENSP00000412263:E767K;ENSP00000343124:E871K	ENSP00000297405:E871K	E	-	1	0	CSMD3	113763913	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.681000	0.91329	0.650000	0.86243	GAA		PASS	0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		14	43	14	43	---	---	---	---
ENPP2	5168	broad.mit.edu	37	8	120594825	120594825	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr8:120594825G>A	ENST00000075322.6	-	18	1619	c.1561C>T	c.(1561-1563)Cca>Tca	p.P521S	ENPP2_ENST00000427067.2_Missense_Mutation_p.P517S|ENPP2_ENST00000522826.1_Missense_Mutation_p.P521S|ENPP2_ENST00000259486.6_Missense_Mutation_p.P573S|ENPP2_ENST00000522167.1_Missense_Mutation_p.P160S	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	521					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P521S(1)|p.P573S(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTAGGAGCTGGCTTCAATCCC	0.413																																					Melanoma(20;305 879 2501 4818 31020)	uc003yot.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7						c.(1561-1563)CCA>TCA		autotaxin isoform 2 preproprotein							125.0	131.0	129.0					8																	120594825		2203	4300	6503	SO:0001583	missense	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120594825G>A	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1561C>T	8.37:g.120594825G>A	ENSP00000075322:p.Pro521Ser					ENPP2_uc011lic.1_Missense_Mutation_p.P38S|ENPP2_uc003yor.1_Missense_Mutation_p.P160S|ENPP2_uc003yos.1_Missense_Mutation_p.P573S|ENPP2_uc010mdd.1_Missense_Mutation_p.P521S	p.P521S	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		18	1647	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		521					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.1561C>T	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229312	0.79688	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.79653	-1.06;-1.09;-1.29;-1.09;-1.09	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.89234	0.6657	M	0.80183	2.485	0.80722	D	1	D;D;D;D;D	0.69078	0.993;0.967;0.997;0.981;0.994	P;P;P;P;P	0.62382	0.899;0.798;0.756;0.901;0.756	D	0.89887	0.4034	10	0.87932	D	0	.	16.8602	0.86016	0.0:0.128:0.872:0.0	.	38;521;521;573;160	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	S	573;517;160;521;521	ENSP00000259486:P573S;ENSP00000403315:P517S;ENSP00000429476:P160S;ENSP00000428291:P521S;ENSP00000075322:P521S	ENSP00000075322:P521S	P	-	1	0	ENPP2	120664006	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.524000	0.81866	2.894000	0.99253	0.655000	0.94253	CCA		PASS	0.413	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			35	93	35	93	---	---	---	---
COL14A1	7373	broad.mit.edu	37	8	121292969	121292969	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr8:121292969G>T	ENST00000297848.3	+	30	3936	c.3666G>T	c.(3664-3666)aaG>aaT	p.K1222N	COL14A1_ENST00000247781.3_Missense_Mutation_p.K1127N|COL14A1_ENST00000309791.4_Missense_Mutation_p.K1222N	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.K1222N(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGGTACACAAGGATGGCATTG	0.373																																						uc003yox.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(3664-3666)AAG>AAT		collagen, type XIV, alpha 1 precursor							102.0	99.0	100.0					8																	121292969		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121292969G>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3666G>T	8.37:g.121292969G>T	ENSP00000297848:p.Lys1222Asn					COL14A1_uc003yoz.2_Missense_Mutation_p.K187N	p.K1222N	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		30	3931	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1222			Nonhelical region (NC4).			Missense_Mutation	SNP	ENST00000297848.3	37	c.3666G>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.892105	0.33442	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	D;D;D	0.87029	-2.09;-2.12;-2.2	5.55	2.46	0.29980	.	0.126669	0.64402	D	0.000001	D	0.85062	0.5611	L	0.44542	1.39	0.80722	D	1	D	0.67145	0.996	P	0.56216	0.794	T	0.78708	-0.2099	10	0.17832	T	0.49	.	7.4471	0.27217	0.4847:0.0:0.5153:0.0	.	1222	Q05707	COEA1_HUMAN	N	1222;1222;1127	ENSP00000311809:K1222N;ENSP00000297848:K1222N;ENSP00000247781:K1127N	ENSP00000247781:K1127N	K	+	3	2	COL14A1	121362150	1.000000	0.71417	1.000000	0.80357	0.160000	0.22226	1.180000	0.32005	0.207000	0.20607	-0.345000	0.07892	AAG		PASS	0.373	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		15	22	15	22	---	---	---	---
SNTB1	6641	broad.mit.edu	37	8	121706117	121706117	+	Silent	SNP	C	C	T	rs140148929	byFrequency	TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr8:121706117C>T	ENST00000395601.3	-	3	1017	c.603G>A	c.(601-603)gtG>gtA	p.V201V	SNTB1_ENST00000517992.1_Silent_p.V201V|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	201	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)		p.V201V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			ATCCTTTCTTCACATAGGGCG	0.517																																						uc010mdg.2																			1	Substitution - coding silent(1)		lung(1)	skin(5)	5						c.(601-603)GTG>GTA		basic beta 1 syntrophin		C		0,4406		0,0,2203	87.0	91.0	90.0		603	5.4	1.0	8	dbSNP_134	90	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	SNTB1	NM_021021.3		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		201/539	121706117	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	6641				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	g.chr8:121706117C>T	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.603G>A	8.37:g.121706117C>T						SNTB1_uc003ype.2_Silent_p.V201V	p.V201V	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		2	829	-	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		201			PH 1.		A8K9E0|O14912|Q4KMG8	Silent	SNP	ENST00000395601.3	37	c.603G>A	CCDS6334.1																																																																																				PASS	0.517	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021		13	59	13	59	---	---	---	---
OC90	729330	broad.mit.edu	37	8	133036764	133036764	+	Silent	SNP	C	C	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr8:133036764C>G	ENST00000443356.2	-	15	1532	c.1446G>C	c.(1444-1446)ctG>ctC	p.L482L	OC90_ENST00000262283.5_Silent_p.L678L|OC90_ENST00000254627.3_Silent_p.L466L|OC90_ENST00000603859.1_Silent_p.L466L			Q02509	OC90_HUMAN	otoconin 90	482					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.L678L(1)|p.L440L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CCAAGGGACCCAGTGACTTCC	0.597																																						uc003ytg.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(1396-1398)CTG>CTC		otoconin 90							25.0	28.0	27.0					8																	133036764		1923	4135	6058	SO:0001819	synonymous_variant	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133036764C>G	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.1446G>C	8.37:g.133036764C>G						OC90_uc011lix.1_Silent_p.L466L	p.L466L	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		13	1398	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		482					B4DNG8	Silent	SNP	ENST00000443356.2	37	c.1398G>C																																																																																					PASS	0.597	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		5	13	5	13	---	---	---	---
OC90	729330	broad.mit.edu	37	8	133053809	133053809	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr8:133053809A>C	ENST00000443356.2	-	5	393	c.307T>G	c.(307-309)Ttt>Gtt	p.F103V	OC90_ENST00000262283.5_Missense_Mutation_p.F299V|OC90_ENST00000254627.3_Missense_Mutation_p.F103V|OC90_ENST00000603859.1_Missense_Mutation_p.F103V			Q02509	OC90_HUMAN	otoconin 90	103	Phospholipase A2-like 1.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.F299V(1)|p.F109V(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TCCATCTCAAACCTGCAGGTG	0.498																																						uc003ytg.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(259-261)TTT>GTT		otoconin 90							53.0	53.0	53.0					8																	133053809		1977	4158	6135	SO:0001583	missense	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133053809A>C	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.307T>G	8.37:g.133053809A>C	ENSP00000390050:p.Phe103Val					OC90_uc011lix.1_Missense_Mutation_p.F103V	p.F87V	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		3	259	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		103			Phospholipase A2-like 1.		B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37	c.259T>G		.	.	.	.	.	.	.	.	.	.	A	17.06	3.292406	0.59976	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.25250	1.81;1.81;1.81	5.88	4.71	0.59529	Phospholipase A2 (3);	0.186520	0.48767	D	0.000173	T	0.37571	0.1008	L	0.35644	1.08	0.34048	D	0.6558	D;D	0.89917	1.0;1.0	D;D	0.77557	0.983;0.99	T	0.49273	-0.8957	10	0.39692	T	0.17	-21.2856	10.4077	0.44274	0.8544:0.0:0.0:0.1456	.	103;103	Q02509-2;Q02509	.;OC90_HUMAN	V	103;103;299	ENSP00000254627:F103V;ENSP00000390050:F103V;ENSP00000262283:F299V	ENSP00000254627:F103V	F	-	1	0	RP11-240B13.2;OC90	133122991	1.000000	0.71417	0.999000	0.59377	0.710000	0.40934	4.699000	0.61796	1.026000	0.39733	0.482000	0.46254	TTT		PASS	0.498	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		21	39	21	39	---	---	---	---
TOPORS	10210	broad.mit.edu	37	9	32541567	32541567	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr9:32541567G>A	ENST00000360538.2	-	3	3072	c.2956C>T	c.(2956-2958)Cca>Tca	p.P986S	TOPORS_ENST00000379858.1_Missense_Mutation_p.P921S	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	986					cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P986S(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		GCCAGAGGTGGAATATTATCT	0.398																																						uc003zrb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(2956-2958)CCA>TCA		topoisomerase I binding, arginine/serine-rich							184.0	173.0	177.0					9																	32541567		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32541567G>A	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2956C>T	9.37:g.32541567G>A	ENSP00000353735:p.Pro986Ser					TOPORS_uc003zrc.2_Missense_Mutation_p.P919S	p.P986S	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	3123	-			986					O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.2956C>T	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	G	1.816	-0.473437	0.04445	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.15139	2.45;2.46	5.37	1.15	0.20763	.	0.928545	0.08938	N	0.872055	T	0.09774	0.0240	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.37478	-0.9704	10	0.37606	T	0.19	0.8364	6.1001	0.20043	0.236:0.2544:0.5096:0.0	.	986	Q9NS56	TOPRS_HUMAN	S	986;921	ENSP00000353735:P986S;ENSP00000369187:P921S	ENSP00000353735:P986S	P	-	1	0	TOPORS	32531567	0.000000	0.05858	0.001000	0.08648	0.169000	0.22640	0.201000	0.17276	0.012000	0.14892	0.650000	0.86243	CCA		PASS	0.398	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		113	43	113	43	---	---	---	---
RASEF	158158	broad.mit.edu	37	9	85607851	85607851	+	Silent	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr9:85607851G>A	ENST00000376447.3	-	15	2270	c.2010C>T	c.(2008-2010)gtC>gtT	p.V670V		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	670					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.V670V(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						AGTGCCCTGGGACACATTTTT	0.493																																						uc004amo.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						c.(2008-2010)GTC>GTT		RAS and EF-hand domain containing							165.0	149.0	154.0					9																	85607851		2203	4300	6503	SO:0001819	synonymous_variant	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85607851G>A	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.2010C>T	9.37:g.85607851G>A							p.V670V	NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN			15	2271	-			670					A6NC29|Q96N04	Silent	SNP	ENST00000376447.3	37	c.2010C>T	CCDS6662.1																																																																																				PASS	0.493	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		25	46	25	46	---	---	---	---
CTSL3P	392360	broad.mit.edu	37	9	90388065	90388065	+	RNA	SNP	A	A	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr9:90388065A>T	ENST00000354530.2	+	0	136					NR_027917.1		Q5NE16	CATL3_HUMAN	cathepsin L family member 3, pseudogene								cysteine-type peptidase activity (GO:0008234)	p.R46W(1)									CCAGAAGCACAGGAAGGGGAA	0.438																																						uc004apm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(130-132)AGG>TGG		RecName: Full=Putative cathepsin L-like protein 3;          Short=Cathepsin L-like protein; AltName: Full=HCTSL-s;							98.0	94.0	95.0					9																	90388065		2203	4300	6503			392360							g.chr9:90388065A>T	AJ851862		9q21.33	2013-01-07	2013-01-07	2013-01-07	ENSG00000188029	ENSG00000188029		"""Cathepsins"""	33132	pseudogene	pseudogene			"""cathepsin L family member 3"""	CTSL3		19663681	Standard	NR_027917		Approved	HCTSL-s	uc004apm.1	Q5NE16	OTTHUMG00000020152		9.37:g.90388065A>T							p.R44W	NR_027917						2	136	+									Missense_Mutation	SNP	ENST00000354530.2	37	c.130A>T																																																																																					PASS	0.438	CTSL3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000356542.1	NR_027917		26	53	26	53	---	---	---	---
FBP2	8789	broad.mit.edu	37	9	97333785	97333785	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr9:97333785G>A	ENST00000375337.3	-	4	592	c.526C>T	c.(526-528)Ctc>Ttc	p.L176F		NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	176					carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)	p.L176F(1)		endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				CCTGTGGAGAGAGCCACCAGG	0.567																																						uc004auv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(526-528)CTC>TTC		fructose-1,6-bisphosphatase 2							110.0	91.0	97.0					9																	97333785		2203	4300	6503	SO:0001583	missense	8789				fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding	g.chr9:97333785G>A	Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.526C>T	9.37:g.97333785G>A	ENSP00000364486:p.Leu176Phe					uc004auu.2_Intron	p.L176F	NM_003837	NP_003828	O00757	F16P2_HUMAN			4	593	-		Acute lymphoblastic leukemia(62;0.136)	176					Q17R39|Q6FI53	Missense_Mutation	SNP	ENST00000375337.3	37	c.526C>T	CCDS6711.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044461	0.93685	.	.	ENSG00000130957	ENST00000375337	T	0.75477	-0.94	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.85396	0.5687	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.86694	0.1925	10	0.72032	D	0.01	-18.2925	18.8707	0.92313	0.0:0.0:1.0:0.0	.	176	O00757	F16P2_HUMAN	F	176	ENSP00000364486:L176F	ENSP00000364486:L176F	L	-	1	0	FBP2	96373606	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.612000	0.61169	2.451000	0.82905	0.557000	0.71058	CTC		PASS	0.567	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053189.1	NM_003837		7	26	7	26	---	---	---	---
ERCC6L2	375748	broad.mit.edu	37	9	98669439	98669439	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr9:98669439C>G	ENST00000288985.7	+	4	1012	c.707C>G	c.(706-708)aCt>aGt	p.T236S	ERCC6L2_ENST00000437817.1_Missense_Mutation_p.T47S|RNA5SP289_ENST00000362332.1_RNA|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	236	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)	p.T236S(1)									TTCAGAGTCACTGTTTTACAT	0.348																																						uc004avt.3																			1	Substitution - Missense(1)		lung(1)		0						c.(706-708)ACT>AGT		RAD26L hypothetical protein							101.0	104.0	103.0					9																	98669439		2203	4299	6502	SO:0001583	missense	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98669439C>G	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.707C>G	9.37:g.98669439C>G	ENSP00000288985:p.Thr236Ser					C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Intron|C9orf102_uc010mry.1_Intron|C9orf102_uc010mrz.2_Missense_Mutation_p.T47S	p.T236S	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN			4	1095	+		Acute lymphoblastic leukemia(62;0.0559)	236			Helicase ATP-binding.		A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	ENST00000288985.7	37	c.707C>G	CCDS35072.1	.	.	.	.	.	.	.	.	.	.	C	4.127	0.021845	0.08006	.	.	ENSG00000182150	ENST00000288985;ENST00000437817	D;D	0.92858	-3.12;-3.12	5.45	3.47	0.39725	DEAD-like helicase (2);SNF2-related (1);	0.345455	0.22905	N	0.054217	T	0.80654	0.4664	N	0.12422	0.21	0.38069	D	0.936323	B;B	0.10296	0.0;0.003	B;B	0.14578	0.001;0.011	T	0.69431	-0.5147	10	0.06625	T	0.88	-1.407	9.3633	0.38208	0.0:0.7523:0.0:0.2477	.	47;236	Q5T890-2;Q5T890	.;RAD26_HUMAN	S	236;47	ENSP00000288985:T236S;ENSP00000416286:T47S	ENSP00000288985:T236S	T	+	2	0	C9orf102	97709260	0.001000	0.12720	0.377000	0.26055	0.908000	0.53690	0.734000	0.26101	0.563000	0.29222	0.591000	0.81541	ACT		PASS	0.348	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895		14	26	14	26	---	---	---	---
CTSV	1515	broad.mit.edu	37	9	99797040	99797040	+	Silent	SNP	C	C	T	rs145877427		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr9:99797040C>T	ENST00000259470.5	-	7	1122	c.873G>A	c.(871-873)tcG>tcA	p.S291S	CTSV_ENST00000479932.1_5'Flank|CTSV_ENST00000538255.1_Silent_p.S291S	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	291					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)	p.S291S(1)									TGCTGTTATTCGAATTTGCTC	0.383																																						uc004awt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(871-873)TCG>TCA		cathepsin L2 preproprotein		C	,	0,4406		0,0,2203	113.0	111.0	111.0		873,873	1.2	0.0	9	dbSNP_134	111	1,8599	2.2+/-6.3	0,1,4299	no	coding-synonymous,coding-synonymous	CTSL2	NM_001201575.1,NM_001333.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	291/335,291/335	99797040	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1515					lysosome	cysteine-type endopeptidase activity	g.chr9:99797040C>T	Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"""Cathepsins"""	2538	protein-coding gene	gene with protein product		603308	"""cathepsin L2"""	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.873G>A	9.37:g.99797040C>T						CTSL2_uc010msi.2_Silent_p.S291S|CTSL2_uc004awu.2_Silent_p.S236S|CTSL2_uc010msj.1_Silent_p.S236S	p.S291S	NM_001333	NP_001324	O60911	CATL2_HUMAN			7	1070	-		Acute lymphoblastic leukemia(62;0.0559)	291					O60233|Q2TB86|Q5T1U0	Silent	SNP	ENST00000259470.5	37	c.873G>A	CCDS6723.1																																																																																				PASS	0.383	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053301.2	NM_001333		14	39	14	39	---	---	---	---
ALG2	85365	broad.mit.edu	37	9	101980956	101980956	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr9:101980956C>T	ENST00000476832.1	-	2	572	c.511G>A	c.(511-513)Gac>Aac	p.D171N	ALG2_ENST00000319033.6_Missense_Mutation_p.D78N	NM_033087.3	NP_149078.1	O75340	PDCD6_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	0	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)	p.D171N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				AAGATGCAGTCTGCCATGCCT	0.448																																						uc004azf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(511-513)GAC>AAC		alpha-1,3-mannosyltransferase ALG2							95.0	96.0	96.0					9																	101980956		2203	4300	6503	SO:0001583	missense	85365				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding	g.chr9:101980956C>T	AK027417	CCDS6739.1	9q31.1	2013-02-22	2013-02-22		ENSG00000119523	ENSG00000119523	2.4.1.132, 2.4.1.257	"""Glycosyltransferase group 1 domain containing"""	23159	protein-coding gene	gene with protein product		607905	"""asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)"""			12684507	Standard	NR_024532		Approved	CDGIi, FLJ14511, hALPG2, NET38	uc004azf.3	Q9H553	OTTHUMG00000020355	ENST00000476832.1:c.511G>A	9.37:g.101980956C>T	ENSP00000417764:p.Asp171Asn					ALG2_uc004azg.2_Missense_Mutation_p.D78N	p.D171N	NM_033087	NP_149078	Q9H553	ALG2_HUMAN			2	581	-		Acute lymphoblastic leukemia(62;0.0559)	171					B2RD16|E7ESR3|Q2YDC2|Q5TZS0	Missense_Mutation	SNP	ENST00000476832.1	37	c.511G>A	CCDS6739.1	.	.	.	.	.	.	.	.	.	.	C	31	5.080868	0.94050	.	.	ENSG00000119523	ENST00000476832;ENST00000319033	D;D	0.84370	-1.67;-1.84	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.92293	0.7555	M	0.86864	2.845	0.80722	D	1	D;D	0.54207	0.957;0.965	P;P	0.57371	0.723;0.819	D	0.93020	0.6439	10	0.56958	D	0.05	-6.9057	19.0186	0.92903	0.0:1.0:0.0:0.0	.	78;171	Q9H553-2;Q9H553	.;ALG2_HUMAN	N	171;78	ENSP00000417764:D171N;ENSP00000326609:D78N	ENSP00000432675:D78N	D	-	1	0	ALG2	101020777	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.565000	0.86533	0.650000	0.86243	GAC		PASS	0.448	ALG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215080.1	NM_033087		13	36	13	36	---	---	---	---
CYLC2	1539	broad.mit.edu	37	9	105767646	105767646	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr9:105767646G>T	ENST00000374798.3	+	5	803	c.733G>T	c.(733-735)Gag>Tag	p.E245*	CYLC2_ENST00000487798.1_Nonsense_Mutation_p.E245*	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	245	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.E245*(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AAAGAAGGATGAGGATGGAAA	0.368																																						uc004bbs.2																			2	Substitution - Nonsense(2)		large_intestine(1)|lung(1)	skin(1)	1						c.(733-735)GAG>TAG		cylicin 2							105.0	101.0	102.0					9																	105767646		2203	4300	6503	SO:0001587	stop_gained	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767646G>T	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.733G>T	9.37:g.105767646G>T	ENSP00000420256:p.Glu245*						p.E245*	NM_001340	NP_001331	Q14093	CYLC2_HUMAN			5	803	+		all_hematologic(171;0.125)	245			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Nonsense_Mutation	SNP	ENST00000374798.3	37	c.733G>T	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305578	0.60305	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	.	.	.	3.89	0.456	0.16655	.	3.350610	0.00866	N	0.001967	.	.	.	.	.	.	0.54753	A	0.999982	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	10.8947	3.1212	0.06392	0.2923:0.273:0.4347:0.0	.	.	.	.	X	245	.	ENSP00000420256:E245X	E	+	1	0	CYLC2	104807467	0.000000	0.05858	0.013000	0.15412	0.083000	0.17756	0.138000	0.16016	0.248000	0.21435	0.305000	0.20034	GAG		PASS	0.368	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		6	103	6	103	---	---	---	---
ZNF883	169834	broad.mit.edu	37	9	115760266	115760266	+	lincRNA	SNP	T	T	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr9:115760266T>C	ENST00000427548.1	-	0	1547							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TTCTCCCCAGTATGGACTCTT	0.363																																						uc011lwy.1																			0					0						c.(274-276)ACT>GCT		hypothetical protein LOC169834							75.0	84.0	81.0					9																	115760266		2181	4286	6467			169834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:115760266T>C	AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115760266T>C							p.T92A	NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN			5	1513	-			92						Missense_Mutation	SNP	ENST00000427548.1	37	c.274A>G																																																																																					PASS	0.363	ZNF883-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053704.1	NM_001101338		15	27	15	27	---	---	---	---
CDK5RAP2	55755	broad.mit.edu	37	9	123220895	123220895	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr9:123220895C>G	ENST00000349780.4	-	20	2387	c.2208G>C	c.(2206-2208)atG>atC	p.M736I	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.M736I|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.M704I|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.M736I	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	736					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.M736I(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AAAGGTCTTTCATAATCTGCA	0.453																																						uc004bkf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(2206-2208)ATG>ATC		CDK5 regulatory subunit associated protein 2							74.0	73.0	74.0					9																	123220895		2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123220895C>G	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.2208G>C	9.37:g.123220895C>G	ENSP00000343818:p.Met736Ile					CDK5RAP2_uc004bke.2_Missense_Mutation_p.M21I|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.M736I|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.M1I|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.M1I|CDK5RAP2_uc011lya.1_Missense_Mutation_p.M1I|CDK5RAP2_uc004bkh.1_Intron|CDK5RAP2_uc004bki.2_Missense_Mutation_p.M503I	p.M736I	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN			20	2389	-			736					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.2208G>C	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	8.143	0.785751	0.16189	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449	T;T;T;T;T	0.16073	4.05;3.93;4.06;3.96;2.37	5.95	-1.14	0.09741	.	1.355500	0.04479	N	0.377462	T	0.09069	0.0224	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.13594	0.001;0.0;0.0;0.008	B;B;B;B	0.09377	0.0;0.001;0.0;0.004	T	0.30031	-0.9992	10	0.13108	T	0.6	.	3.0396	0.06134	0.3151:0.2956:0.0:0.3893	.	505;736;736;130	Q6MZT4;Q96SN8-4;Q96SN8;B1AMJ5	.;.;CK5P2_HUMAN;.	I	704;736;736;736;130	ENSP00000354065:M704I;ENSP00000352258:M736I;ENSP00000343818:M736I;ENSP00000353317:M736I;ENSP00000400395:M130I	ENSP00000343818:M736I	M	-	3	0	CDK5RAP2	122260716	.	.	0.027000	0.17364	0.017000	0.09413	.	.	-0.086000	0.12550	0.655000	0.94253	ATG		PASS	0.453	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		8	68	8	68	---	---	---	---
PHF19	26147	broad.mit.edu	37	9	123636960	123636960	+	Silent	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr9:123636960G>T	ENST00000373896.3	-	2	312	c.60C>A	c.(58-60)ctC>ctA	p.L20L	PHF19_ENST00000312189.6_Silent_p.L20L	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	20					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.L20L(2)		NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTTGTTGGGGAGGTGGCTGG	0.567																																						uc004bks.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)	2						c.(58-60)CTC>CTA		PHD finger protein 19 isoform a							93.0	93.0	93.0					9																	123636960		2203	4300	6503	SO:0001819	synonymous_variant	26147				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr9:123636960G>T	BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24566	protein-coding gene	gene with protein product	"""polycomb-like 3"", ""tudor domain containing 19B"""	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.60C>A	9.37:g.123636960G>T						PHF19_uc004bkt.2_Silent_p.L20L|PHF19_uc010mvk.2_Silent_p.L20L	p.L20L	NM_015651	NP_056466	Q5T6S3	PHF19_HUMAN			2	313	-			20					Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Silent	SNP	ENST00000373896.3	37	c.60C>A	CCDS35116.1																																																																																				PASS	0.567	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053838.3	XM_045308		6	85	6	85	---	---	---	---
SLC25A25	114789	broad.mit.edu	37	9	130869708	130869708	+	Silent	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr9:130869708C>A	ENST00000373064.5	+	10	1658	c.1395C>A	c.(1393-1395)ggC>ggA	p.G465G	SLC25A25_ENST00000433501.1_Silent_p.G362G|RP11-395P17.11_ENST00000602939.1_RNA|SLC25A25_ENST00000373068.2_Silent_p.G499G|SLC25A25_ENST00000373069.5_Silent_p.G511G|SLC25A25_ENST00000373066.5_Silent_p.G497G|SLC25A25_ENST00000432073.2_Silent_p.G485G	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	465					adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.G465G(1)|p.G485G(1)|p.G499G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						TCACCCTGGGCGTGCAGTCGC	0.637																																						uc004bte.2																			3	Substitution - coding silent(3)		lung(3)		0						c.(1393-1395)GGC>GGA		solute carrier family 25, member 25 isoform a							67.0	72.0	70.0					9																	130869708		2203	4300	6503	SO:0001819	synonymous_variant	114789				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr9:130869708C>A	AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"""Solute carriers"", ""EF-hand domain containing"""	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.1395C>A	9.37:g.130869708C>A						SLC25A25_uc004btb.2_Silent_p.G499G|SLC25A25_uc004btc.2_Silent_p.G485G|SLC25A25_uc004btd.2_Silent_p.G497G|SLC25A25_uc004btf.2_Silent_p.G362G	p.G465G	NM_052901	NP_443133	Q6KCM7	SCMC2_HUMAN			10	1424	+			465			Mitochondrial intermembrane (Potential).		Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Silent	SNP	ENST00000373064.5	37	c.1395C>A	CCDS6890.1																																																																																				PASS	0.637	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054407.1	NM_052901		22	83	22	83	---	---	---	---
GOLGA2	2801	broad.mit.edu	37	9	131021485	131021485	+	Silent	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr9:131021485C>T	ENST00000421699.2	-	19	1989	c.1977G>A	c.(1975-1977)gcG>gcA	p.A659A	GOLGA2_ENST00000609374.1_Silent_p.A647A|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	659					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.A647A(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TCTCGGCCACCGCTTTGCCCT	0.617																																						uc011maw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1975-1977)GCG>GCA		Golgi autoantigen, golgin subfamily a, 2							27.0	29.0	28.0					9																	131021485		2203	4300	6503	SO:0001819	synonymous_variant	2801					Golgi cisterna membrane	protein binding	g.chr9:131021485C>T	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.1977G>A	9.37:g.131021485C>T						GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004buh.2_Silent_p.A132A	p.A659A	NM_004486	NP_004477	Q08379	GOGA2_HUMAN			19	1990	-			659			Potential.		Q6GRM9|Q9BRB0|Q9NYF9	Silent	SNP	ENST00000421699.2	37	c.1977G>A	CCDS6896.2																																																																																				PASS	0.617	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		7	20	7	20	---	---	---	---
PRRX2	51450	broad.mit.edu	37	9	132484622	132484622	+	Silent	SNP	G	G	T	rs373951160		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr9:132484622G>T	ENST00000372469.4	+	4	980	c.753G>T	c.(751-753)acG>acT	p.T251T		NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	251					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T251T(1)		lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				AGGTGCCTACGGTGAACTGAA	0.622																																						uc004byh.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(751-753)ACG>ACT		paired related homeobox 2							69.0	57.0	61.0					9																	132484622		2203	4300	6503	SO:0001819	synonymous_variant	51450					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:132484622G>T	AF061970	CCDS6926.1	9q34.11	2011-06-20			ENSG00000167157	ENSG00000167157		"""Homeoboxes / PRD class"""	21338	protein-coding gene	gene with protein product		604675				11063257	Standard	NM_016307		Approved	PRX2, PMX2	uc004byh.3	Q99811	OTTHUMG00000020790	ENST00000372469.4:c.753G>T	9.37:g.132484622G>T							p.T251T	NM_016307	NP_057391	Q99811	PRRX2_HUMAN			4	980	+		Ovarian(14;0.00556)	251					Q5SZB5|Q9UIB3	Silent	SNP	ENST00000372469.4	37	c.753G>T	CCDS6926.1																																																																																				PASS	0.622	PRRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054598.2	NM_016307		14	21	14	21	---	---	---	---
OBP2A	29991	broad.mit.edu	37	9	138439740	138439740	+	Missense_Mutation	SNP	C	C	A	rs570196772		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr9:138439740C>A	ENST00000539850.1	+	4	327	c.301C>A	c.(301-303)Ctg>Atg	p.L101M	OBP2A_ENST00000340780.3_Missense_Mutation_p.L101M|OBP2A_ENST00000371776.1_Missense_Mutation_p.L101M|OBP2A_ENST00000342114.4_Missense_Mutation_p.P56H			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	101					response to stimulus (GO:0050896)|sensory perception of chemical stimulus (GO:0007606)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)	p.L101M(1)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		GCTCATATACCTGCAGGAGCT	0.587																																						uc004cgb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(301-303)CTG>ATG		odorant binding protein 2A precursor							55.0	50.0	51.0					9																	138439740		2203	4300	6503	SO:0001583	missense	29991				response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:138439740C>A	AJ251029	CCDS6992.1	9q34	2014-01-22			ENSG00000122136	ENSG00000122136		"""Lipocalins"""	23380	protein-coding gene	gene with protein product		164320					Standard	NM_014582		Approved	hOBPIIa, OBP, LCN13	uc004cgb.3	Q9NY56	OTTHUMG00000020909	ENST00000539850.1:c.301C>A	9.37:g.138439740C>A	ENSP00000441028:p.Leu101Met					OBP2A_uc004cgc.2_Missense_Mutation_p.L101M|OBP2A_uc010nau.2_RNA|OBP2A_uc010nav.2_Missense_Mutation_p.P56H	p.L101M	NM_014582	NP_055397	Q9NY56	OBP2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)	4	343	+			101					Q5T8A3|Q9NY50|Q9NY53|Q9NY54|Q9NY55	Missense_Mutation	SNP	ENST00000539850.1	37	c.301C>A	CCDS6992.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	7.443|7.443	0.641087|0.641087	0.14386|0.14386	.|.	.|.	ENSG00000122136|ENSG00000122136	ENST00000340780;ENST00000371776;ENST00000539850|ENST00000342114	T;T;T|T	0.09350|0.08370	2.99;2.99;2.99|3.1	2.25|2.25	-4.51|-4.51	0.03483|0.03483	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);|.	1.243120|.	0.06301|.	N|.	0.700971|.	T|T	0.05410|0.05410	0.0143|0.0143	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	D;P|B	0.59767|0.02656	0.986;0.952|0.0	P;P|B	0.60473|0.04013	0.875;0.827|0.001	T|T	0.32693|0.32693	-0.9897|-0.9897	10|9	0.56958|0.48119	D|T	0.05|0.1	-15.1887|-15.1887	1.8888|1.8888	0.03243|0.03243	0.2028:0.3621:0.3024:0.1327|0.2028:0.3621:0.3024:0.1327	.|.	101;101|56	Q5T8A5;Q9NY56|Q5T8A4	.;OBP2A_HUMAN|.	M|H	101|56	ENSP00000342097:L101M;ENSP00000360841:L101M;ENSP00000441028:L101M|ENSP00000340950:P56H	ENSP00000342097:L101M|ENSP00000340950:P56H	L|P	+|+	1|2	2|0	OBP2A|OBP2A	137579561|137579561	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-2.953000|-2.953000	0.00676|0.00676	-2.772000|-2.772000	0.00364|0.00364	-1.885000|-1.885000	0.00541|0.00541	CTG|CCT		PASS	0.587	OBP2A-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397904.1	NM_014582		10	24	10	24	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139402784	139402784	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr9:139402784C>T	ENST00000277541.6	-	20	3300	c.3225G>A	c.(3223-3225)tgG>tgA	p.W1075*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1075	EGF-like 28. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W1075*(1)|p.W1076*(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGTGGGTCTGCCAGCATTTGC	0.662			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2				Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Substitution - Nonsense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(3223-3225)TGG>TGA		notch1 preproprotein							82.0	102.0	95.0					9																	139402784		2118	4217	6335	SO:0001587	stop_gained	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139402784C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3225G>A	9.37:g.139402784C>T	ENSP00000277541:p.Trp1075*	HNSCC(8;0.001)				NOTCH1_uc004cia.1_Nonsense_Mutation_p.W305*	p.W1075*	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	20	3225	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1075			Extracellular (Potential).|EGF-like 28.		Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	c.3225G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	42	9.228810	0.99106	.	.	ENSG00000148400	ENST00000277541	.	.	.	5.13	5.13	0.70059	.	0.065955	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	17.568	0.87926	0.0:1.0:0.0:0.0	.	.	.	.	X	1075	.	ENSP00000277541:W1075X	W	-	3	0	NOTCH1	138522605	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	4.371000	0.59523	2.382000	0.81193	0.655000	0.94253	TGG		PASS	0.662	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		13	68	13	68	---	---	---	---
GPR158	57512	broad.mit.edu	37	10	25885705	25885705	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr10:25885705C>A	ENST00000376351.3	+	10	2491	c.2132C>A	c.(2131-2133)cCa>cAa	p.P711Q	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	711					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P711Q(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGCTTGGATCCAGAGGACATT	0.483																																						uc001isj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(2131-2133)CCA>CAA		G protein-coupled receptor 158 precursor							123.0	103.0	110.0					10																	25885705		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25885705C>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2132C>A	10.37:g.25885705C>A	ENSP00000365529:p.Pro711Gln					GPR158_uc001isk.2_Missense_Mutation_p.P86Q	p.P711Q	NM_020752	NP_065803	Q5T848	GP158_HUMAN			10	2192	+			711			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2132C>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	32	5.158454	0.94686	.	.	ENSG00000151025	ENST00000376351	T	0.65364	-0.15	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000001	T	0.81064	0.4745	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80812	-0.1215	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	711	Q5T848	GP158_HUMAN	Q	711	ENSP00000365529:P711Q	ENSP00000365529:P711Q	P	+	2	0	GPR158	25925711	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	CCA		PASS	0.483	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		19	27	19	27	---	---	---	---
ARMC4	55130	broad.mit.edu	37	10	28228919	28228919	+	Silent	SNP	T	T	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr10:28228919T>A	ENST00000305242.5	-	14	2096	c.2004A>T	c.(2002-2004)gcA>gcT	p.A668A	ARMC4_ENST00000545014.1_Silent_p.A193A|ARMC4_ENST00000537576.1_Silent_p.A360A	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	668					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.A668A(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CTGCTTTGATTGCAGCCCGGT	0.388																																						uc009xky.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)	6						c.(2002-2004)GCA>GCT		armadillo repeat containing 4							100.0	95.0	96.0					10																	28228919		2203	4300	6503	SO:0001819	synonymous_variant	55130						binding	g.chr10:28228919T>A	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2004A>T	10.37:g.28228919T>A						ARMC4_uc010qds.1_Silent_p.A193A|ARMC4_uc010qdt.1_Silent_p.A360A|ARMC4_uc001itz.2_Silent_p.A668A	p.A668A	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN			14	2102	-			668			ARM 4.|HEAT.		A8K906|B7Z7I1|Q9H0C0	Silent	SNP	ENST00000305242.5	37	c.2004A>T	CCDS7157.1																																																																																				PASS	0.388	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		11	19	11	19	---	---	---	---
MPP7	143098	broad.mit.edu	37	10	28345494	28345494	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr10:28345494G>T	ENST00000375732.1	-	16	1725	c.1466C>A	c.(1465-1467)cCa>cAa	p.P489Q	MPP7_ENST00000540098.1_Missense_Mutation_p.P489Q|MPP7_ENST00000375719.3_Missense_Mutation_p.P489Q|MPP7_ENST00000337532.5_Missense_Mutation_p.P489Q			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	489	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)	p.P489Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CTCTATTGATGGAGGCTTTAT	0.358																																						uc001iua.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1465-1467)CCA>CAA		palmitoylated membrane protein 7							156.0	154.0	155.0					10																	28345494		2203	4300	6503	SO:0001583	missense	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28345494G>T	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.1466C>A	10.37:g.28345494G>T	ENSP00000364884:p.Pro489Gln					MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Missense_Mutation_p.P489Q|MPP7_uc009xla.2_Missense_Mutation_p.P489Q|MPP7_uc010qdv.1_RNA	p.P489Q	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN			18	1870	-			489			Guanylate kinase-like.		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	ENST00000375732.1	37	c.1466C>A	CCDS7158.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825364	0.90955	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000441595	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	5.72	5.72	0.89469	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.66436	0.2789	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76680	-0.2870	10	0.87932	D	0	.	19.876	0.96870	0.0:0.0:1.0:0.0	.	489	Q5T2T1	MPP7_HUMAN	Q	489;489;489;489;250	ENSP00000364884:P489Q;ENSP00000337907:P489Q;ENSP00000438693:P489Q;ENSP00000364871:P489Q;ENSP00000398319:P250Q	ENSP00000337907:P489Q	P	-	2	0	MPP7	28385500	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	6.778000	0.75043	2.709000	0.92574	0.591000	0.81541	CCA		PASS	0.358	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		7	87	7	87	---	---	---	---
ZNF33A	7581	broad.mit.edu	37	10	38344482	38344482	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr10:38344482C>A	ENST00000458705.2	+	5	1585	c.1427C>A	c.(1426-1428)tCc>tAc	p.S476Y	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.S483Y|ZNF33A_ENST00000307441.9_Missense_Mutation_p.S476Y|ZNF33A_ENST00000374618.3_Missense_Mutation_p.S477Y			Q06730	ZN33A_HUMAN	zinc finger protein 33A	476					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S476Y(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TGTGGGAAATCCTTTAGTGAA	0.383																																						uc001izh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1426-1428)TCC>TAC		zinc finger protein 33A isoform b							61.0	59.0	60.0					10																	38344482		2202	4300	6502	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38344482C>A	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1427C>A	10.37:g.38344482C>A	ENSP00000387713:p.Ser476Tyr					ZNF33A_uc001izg.2_Missense_Mutation_p.S477Y|ZNF33A_uc010qev.1_Missense_Mutation_p.S483Y|ZNF33A_uc001izi.1_Intron	p.S476Y	NM_006974	NP_008905	Q06730	ZN33A_HUMAN			5	1605	+			476			C2H2-type 6.		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.1427C>A	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006466	0.35415	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	2.05	2.05	0.26809	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.31554	N	0.007449	T	0.44180	0.1281	M	0.79343	2.45	0.21355	N	0.999714	P;P;B	0.47106	0.835;0.89;0.337	P;P;B	0.49853	0.489;0.624;0.141	T	0.33650	-0.9860	10	0.87932	D	0	.	6.5322	0.22334	0.0:0.6935:0.3065:0.0	.	483;476;477	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	Y	477;483;476;476	ENSP00000363747:S477Y;ENSP00000402467:S483Y;ENSP00000387713:S476Y;ENSP00000304268:S476Y	ENSP00000304268:S476Y	S	+	2	0	ZNF33A	38384488	0.000000	0.05858	0.995000	0.50966	0.929000	0.56500	0.135000	0.15952	1.117000	0.41842	0.460000	0.39030	TCC		PASS	0.383	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		17	23	17	23	---	---	---	---
ZNF33A	7581	broad.mit.edu	37	10	38344544	38344544	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr10:38344544G>A	ENST00000458705.2	+	5	1647	c.1489G>A	c.(1489-1491)Gaa>Aaa	p.E497K	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.E504K|ZNF33A_ENST00000307441.9_Missense_Mutation_p.E497K|ZNF33A_ENST00000374618.3_Missense_Mutation_p.E498K			Q06730	ZN33A_HUMAN	zinc finger protein 33A	497					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E497K(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TAAATCTTATGAATGTAATGC	0.368																																						uc001izh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1489-1491)GAA>AAA		zinc finger protein 33A isoform b							67.0	67.0	67.0					10																	38344544		2203	4300	6503	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38344544G>A	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1489G>A	10.37:g.38344544G>A	ENSP00000387713:p.Glu497Lys					ZNF33A_uc001izg.2_Missense_Mutation_p.E498K|ZNF33A_uc010qev.1_Missense_Mutation_p.E504K|ZNF33A_uc001izi.1_Intron	p.E497K	NM_006974	NP_008905	Q06730	ZN33A_HUMAN			5	1667	+			497			C2H2-type 7.		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.1489G>A	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	G	9.320	1.057893	0.19987	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	2.05	1.08	0.20341	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.832580	0.09779	N	0.756942	T	0.09992	0.0245	N	0.11845	0.185	0.09310	N	1	P;P;B	0.39480	0.675;0.608;0.184	B;B;B	0.39379	0.298;0.227;0.059	T	0.20009	-1.0288	10	0.22706	T	0.39	.	2.6038	0.04873	0.1804:0.0:0.5379:0.2816	.	504;497;498	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	K	498;504;497;497	ENSP00000363747:E498K;ENSP00000402467:E504K;ENSP00000387713:E497K;ENSP00000304268:E497K	ENSP00000304268:E497K	E	+	1	0	ZNF33A	38384550	0.000000	0.05858	0.826000	0.32828	0.962000	0.63368	-1.975000	0.01498	0.171000	0.19730	0.460000	0.39030	GAA		PASS	0.368	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		8	39	8	39	---	---	---	---
ZNF37A	7587	broad.mit.edu	37	10	38406785	38406785	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr10:38406785A>T	ENST00000361085.5	+	7	1051	c.706A>T	c.(706-708)Acc>Tcc	p.T236S	ZNF37A_ENST00000351773.3_Missense_Mutation_p.T236S	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T236S(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AATTCAGAGAACCCACTCAAT	0.333																																						uc001izk.2																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(706-708)ACC>TCC		zinc finger protein 37a							45.0	47.0	46.0					10																	38406785		2203	4300	6503	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38406785A>T	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.706A>T	10.37:g.38406785A>T	ENSP00000354377:p.Thr236Ser					ZNF37A_uc001izl.2_Missense_Mutation_p.T236S|ZNF37A_uc001izm.2_Missense_Mutation_p.T236S	p.T236S	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN			8	1525	+			236					B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.706A>T	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	A	7.075	0.569119	0.13560	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.06687	3.27;3.27	2.34	2.34	0.29019	.	.	.	.	.	T	0.07007	0.0178	L	0.31065	0.9	0.22412	N	0.99913	B	0.02656	0.0	B	0.01281	0.0	T	0.27971	-1.0058	9	0.66056	D	0.02	.	8.2277	0.31579	1.0:0.0:0.0:0.0	.	236	P17032	ZN37A_HUMAN	S	236	ENSP00000329141:T236S;ENSP00000354377:T236S	ENSP00000329141:T236S	T	+	1	0	ZNF37A	38446791	0.000000	0.05858	0.030000	0.17652	0.062000	0.15995	-0.210000	0.09345	1.082000	0.41137	0.482000	0.46254	ACC		PASS	0.333	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		15	25	15	25	---	---	---	---
ZNF485	220992	broad.mit.edu	37	10	44111890	44111890	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr10:44111890G>T	ENST00000361807.3	+	5	593	c.399G>T	c.(397-399)aaG>aaT	p.K133N	ZNF485_ENST00000374435.3_Missense_Mutation_p.K133N|ZNF485_ENST00000374437.2_Missense_Mutation_p.K42N	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	133					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.K133N(1)|p.K94N(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						ATAAGTGCAAGGAATGTGGGA	0.448																																						uc010qfc.1																			2	Substitution - Missense(2)		lung(2)		0						c.(397-399)AAG>AAT		zinc finger protein 485							101.0	102.0	101.0					10																	44111890		2203	4300	6503	SO:0001583	missense	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44111890G>T	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"""Zinc fingers, C2H2-type"", ""-"""	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.399G>T	10.37:g.44111890G>T	ENSP00000354694:p.Lys133Asn					ZNF485_uc010qfd.1_Missense_Mutation_p.K42N	p.K133N	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN			5	593	+			133			C2H2-type 1.		B4DSE6|Q96CL0	Missense_Mutation	SNP	ENST00000361807.3	37	c.399G>T	CCDS7205.2	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.983149	0.00046	.	.	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.07908	3.15;3.15;3.15	2.54	-0.579	0.11720	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04634	0.0126	L	0.28608	0.87	0.09310	N	1	B	0.10296	0.003	B	0.16722	0.016	T	0.47433	-0.9118	9	0.08837	T	0.75	.	3.3959	0.07305	0.2598:0.0:0.5375:0.2027	.	133	Q8NCK3	ZN485_HUMAN	N	133;42;133	ENSP00000354694:K133N;ENSP00000363560:K42N;ENSP00000363558:K133N	ENSP00000354694:K133N	K	+	3	2	ZNF485	43431896	0.000000	0.05858	0.212000	0.23672	0.048000	0.14542	-1.940000	0.01543	-0.138000	0.11434	-0.379000	0.06801	AAG		PASS	0.448	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312		5	65	5	65	---	---	---	---
RASSF4	83937	broad.mit.edu	37	10	45480357	45480357	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr10:45480357G>A	ENST00000340258.5	+	6	583	c.470G>A	c.(469-471)gGt>gAt	p.G157D	RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000334940.6_Missense_Mutation_p.G166D|RASSF4_ENST00000374417.2_Silent_p.R126R	NM_032023.3	NP_114412.2	Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	0	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)	p.G157D(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CGCGCCCCCGGTGAGGCCCAG	0.677																																						uc001jbo.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(469-471)GGT>GAT		Ras association domain family 4							73.0	89.0	84.0					10																	45480357		2203	4300	6503	SO:0001583	missense	83937				cell cycle|signal transduction		protein binding	g.chr10:45480357G>A	BC032593	CCDS7208.1	10q11.1	2008-02-22	2008-02-22		ENSG00000107551	ENSG00000107551			20793	protein-coding gene	gene with protein product		610559					Standard	NM_032023		Approved	AD037, MGC44914	uc001jbo.3	Q9H2L5	OTTHUMG00000018060	ENST00000340258.5:c.470G>A	10.37:g.45480357G>A	ENSP00000339692:p.Gly157Asp					RASSF4_uc001jbp.2_Missense_Mutation_p.G188D|RASSF4_uc009xmn.2_Missense_Mutation_p.G87D|RASSF4_uc001jbq.2_Missense_Mutation_p.G54D|RASSF4_uc001jbt.2_Missense_Mutation_p.G114D	p.G157D	NM_032023	NP_114412	Q9H2L5	RASF4_HUMAN			6	604	+			157					Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000340258.5	37	c.470G>A	CCDS7208.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014002	0.35511	.	.	ENSG00000107551	ENST00000334940;ENST00000340258;ENST00000374411	T;T	0.47869	0.83;0.83	5.71	5.71	0.89125	.	0.427611	0.27682	N	0.018290	T	0.50188	0.1601	L	0.38175	1.15	0.50813	D	0.999899	D;P;P	0.59357	0.985;0.937;0.868	P;P;P	0.53722	0.733;0.587;0.448	T	0.27157	-1.0082	10	0.15952	T	0.53	-8.3786	17.3445	0.87306	0.0:0.0:1.0:0.0	.	166;248;157	Q9H2L5-2;Q59FL4;Q9H2L5	.;.;RASF4_HUMAN	D	166;157;248	ENSP00000334543:G166D;ENSP00000339692:G157D	ENSP00000334543:G166D	G	+	2	0	RASSF4	44800363	0.947000	0.32204	0.011000	0.14972	0.131000	0.20780	4.891000	0.63185	2.686000	0.91538	0.655000	0.94253	GGT		PASS	0.677	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047745.2	NM_032023		17	48	17	48	---	---	---	---
IPMK	253430	broad.mit.edu	37	10	59986886	59986886	+	Silent	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr10:59986886G>A	ENST00000373935.3	-	3	613	c.291C>T	c.(289-291)gaC>gaT	p.D97D		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	97					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823)	p.D97D(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						CATCAAAACAGTCAGCAGCAT	0.353																																						uc001jkb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(289-291)GAC>GAT		inositol polyphosphate multikinase							90.0	89.0	89.0					10																	59986886		2203	4300	6503	SO:0001819	synonymous_variant	253430					nucleus	ATP binding|inositol trisphosphate 6-kinase activity	g.chr10:59986886G>A	AF432853	CCDS7250.1	10q21.1	2010-11-29		2004-07-22	ENSG00000151151	ENSG00000151151			20739	protein-coding gene	gene with protein product		609851				12223481, 12027805	Standard	NM_152230		Approved		uc001jkb.3	Q8NFU5	OTTHUMG00000018268	ENST00000373935.3:c.291C>T	10.37:g.59986886G>A							p.D97D	NM_152230	NP_689416	Q8NFU5	IPMK_HUMAN			3	614	-			97						Silent	SNP	ENST00000373935.3	37	c.291C>T	CCDS7250.1																																																																																				PASS	0.353	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048142.1	NM_152230		18	47	18	47	---	---	---	---
USP54	159195	broad.mit.edu	37	10	75276843	75276843	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr10:75276843C>A	ENST00000339859.4	-	19	3441	c.3341G>T	c.(3340-3342)aGt>aTt	p.S1114I	RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000422491.2_Missense_Mutation_p.S296I|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.S1114I|USP54_ENST00000394811.2_Missense_Mutation_p.S202I|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.S964I|USP54_ENST00000497106.1_5'UTR			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1114					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.S1114I(1)|p.S202I(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GGTCTCCTCACTGCCTCTGTC	0.498																																					Colon(195;880 2046 8854 25025 38456)	uc001juo.2																			2	Substitution - Missense(2)		lung(2)	breast(3)|lung(2)|kidney(1)	6						c.(3340-3342)AGT>ATT		ubiquitin specific peptidase 54							100.0	99.0	100.0					10																	75276843		2203	4300	6503	SO:0001583	missense	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75276843C>A	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.3341G>T	10.37:g.75276843C>A	ENSP00000345216:p.Ser1114Ile					USP54_uc010qkk.1_Missense_Mutation_p.S296I|USP54_uc001juk.2_Missense_Mutation_p.S202I|USP54_uc001jul.2_Missense_Mutation_p.S202I|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA	p.S1114I	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN			18	3358	-	Prostate(51;0.0112)		1114					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	c.3341G>T	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	C	9.755	1.168543	0.21621	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000394811;ENST00000422491	T;T;T;T;T	0.25250	1.84;1.84;1.84;1.81;1.81	5.83	1.63	0.23807	.	.	.	.	.	T	0.13286	0.0322	L	0.27053	0.805	0.09310	N	0.999999	B;B	0.33171	0.4;0.003	B;B	0.24269	0.052;0.002	T	0.18398	-1.0338	9	0.39692	T	0.17	-0.4689	3.978	0.09483	0.0926:0.4992:0.1494:0.2587	.	296;1114	E7EW90;Q70EL1	.;UBP54_HUMAN	I	1114;1114;964;202;296	ENSP00000345216:S1114I;ENSP00000386080:S1114I;ENSP00000408714:S964I;ENSP00000378290:S202I;ENSP00000407368:S296I	ENSP00000345216:S1114I	S	-	2	0	USP54	74946849	0.003000	0.15002	0.508000	0.27688	0.529000	0.34654	0.395000	0.20850	0.395000	0.25257	0.655000	0.94253	AGT		PASS	0.498	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		23	35	23	35	---	---	---	---
KAT6B	23522	broad.mit.edu	37	10	76790376	76790376	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr10:76790376C>A	ENST00000287239.4	+	18	6283	c.5794C>A	c.(5794-5796)Ctg>Atg	p.L1932M	KAT6B_ENST00000372725.1_Missense_Mutation_p.L1640M|KAT6B_ENST00000372714.1_Missense_Mutation_p.L1640M|KAT6B_ENST00000372711.1_Missense_Mutation_p.L1749M|KAT6B_ENST00000372724.1_Missense_Mutation_p.L1640M	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1932	Interaction with RUNX1 and RUNX2.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L1932M(1)									GTCAGCGTCTCTGTCACCAGC	0.532																																						uc001jwn.1										T					CREBBP		AML		1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16						c.(5794-5796)CTG>ATG		MYST histone acetyltransferase (monocytic							79.0	82.0	81.0					10																	76790376		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76790376C>A	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.5794C>A	10.37:g.76790376C>A	ENSP00000287239:p.Leu1932Met					MYST4_uc001jwo.1_Missense_Mutation_p.L1640M|MYST4_uc001jwp.1_Missense_Mutation_p.L1749M	p.L1932M	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN			18	6287	+	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)		1932			Interaction with RUNX1 and RUNX2.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.5794C>A	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889940	0.33348	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.81163	-1.44;-1.44;-1.46;-1.44;-1.46	5.69	4.79	0.61399	.	0.000000	0.39687	N	0.001294	T	0.81992	0.4940	N	0.24115	0.695	0.43368	D	0.995459	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.81914	0.994;0.97;0.995	D	0.83929	0.0305	10	0.87932	D	0	-6.2557	11.7056	0.51595	0.0:0.8578:0.0:0.1422	.	1749;1640;1932	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	M	1640;1640;1932;1640;1749	ENSP00000361810:L1640M;ENSP00000361809:L1640M;ENSP00000287239:L1932M;ENSP00000361799:L1640M;ENSP00000361796:L1749M	ENSP00000287239:L1932M	L	+	1	2	KAT6B	76460382	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.075000	0.50073	1.414000	0.47017	-0.253000	0.11424	CTG		PASS	0.532	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		5	60	5	60	---	---	---	---
SFTPD	6441	broad.mit.edu	37	10	81701710	81701710	+	Splice_Site	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr10:81701710C>A	ENST00000372292.3	-	5	590	c.550G>T	c.(550-552)Ggg>Tgg	p.G184W		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	184	Collagen-like.				defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|lung alveolus development (GO:0048286)|macrophage chemotaxis (GO:0048246)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of phagocytosis (GO:0050766)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|regulation of cytokine production (GO:0001817)|respiratory gaseous exchange (GO:0007585)|surfactant homeostasis (GO:0043129)	collagen trimer (GO:0005581)|endocytic vesicle (GO:0030139)|extracellular region (GO:0005576)|lysosome (GO:0005764)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)	p.G184W(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CACTGCTCACCTGCTGCCCCT	0.642																																						uc001kbh.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(550-552)GGG>TGG		pulmonary surfactant-associated protein D							86.0	81.0	83.0					10																	81701710		2203	4300	6503	SO:0001630	splice_region_variant	6441				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding	g.chr10:81701710C>A	L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661		"""Collectins"""	10803	protein-coding gene	gene with protein product		178635	"""surfactant, pulmonary-associated protein D"""	SFTP4		1898081, 1339284	Standard	NM_003019		Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.550+1G>T	10.37:g.81701710C>A						MBL1P_uc001kbf.2_Intron	p.G184W	NM_003019	NP_003010	P35247	SFTPD_HUMAN	Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)		5	593	-	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		184			Collagen-like.		Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	Missense_Mutation	SNP	ENST00000372292.3	37	c.550G>T	CCDS7362.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059689	0.55325	.	.	ENSG00000133661	ENST00000372292;ENST00000444384	D;D	0.99537	-5.78;-6.11	4.97	4.97	0.65823	.	0.000000	0.53938	D	0.000046	D	0.99837	0.9926	H	0.99712	4.72	0.43338	D	0.995388	D	0.89917	1.0	D	0.97110	1.0	D	0.96535	0.9396	9	.	.	.	-18.0066	13.7164	0.62700	0.0:1.0:0.0:0.0	.	184	P35247	SFTPD_HUMAN	W	184;197	ENSP00000361366:G184W;ENSP00000394325:G197W	.	G	-	1	0	SFTPD	81691690	1.000000	0.71417	1.000000	0.80357	0.364000	0.29643	2.600000	0.46240	2.318000	0.78349	0.561000	0.74099	GGG		PASS	0.642	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049011.1		Missense_Mutation	5	50	5	50	---	---	---	---
MARCH5	54708	broad.mit.edu	37	10	94109448	94109448	+	Silent	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr10:94109448C>A	ENST00000358935.2	+	5	906	c.574C>A	c.(574-576)Cga>Aga	p.R192R	MARCH5_ENST00000467521.2_3'UTR	NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	192					negative regulation of cell aging (GO:0090344)|positive regulation of mitochondrial fission (GO:0090141)|protein autoubiquitination (GO:0051865)|protein localization to mitochondrion (GO:0070585)|protein polyubiquitination (GO:0000209)|regulation of mitochondrial fission (GO:0090140)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	GTPase binding (GO:0051020)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R192R(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						TCCTGTTCCTCGAATTCCAGC	0.418																																						uc001khx.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(574-576)CGA>AGA		membrane-associated ring finger (C3HC4) 5							313.0	311.0	312.0					10																	94109448		2203	4300	6503	SO:0001819	synonymous_variant	54708				cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr10:94109448C>A	BC015480	CCDS7420.1	10q23.32-q23.33	2013-01-09	2005-01-26	2005-01-27	ENSG00000198060	ENSG00000198060		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26025	protein-coding gene	gene with protein product		610637	"""ring finger protein 153"""	RNF153		14722266	Standard	XM_005269923		Approved	FLJ20445, MARCH-V	uc001khx.1	Q9NX47	OTTHUMG00000018757	ENST00000358935.2:c.574C>A	10.37:g.94109448C>A						MARCH5_uc010qno.1_Silent_p.R88R	p.R192R	NM_017824	NP_060294	Q9NX47	MARH5_HUMAN			5	906	+			192						Silent	SNP	ENST00000358935.2	37	c.574C>A	CCDS7420.1																																																																																				PASS	0.418	MARCH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049388.1	NM_017824		8	289	8	289	---	---	---	---
ABCC2	1244	broad.mit.edu	37	10	101604082	101604082	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr10:101604082C>A	ENST00000370449.4	+	28	3960	c.3847C>A	c.(3847-3849)Ccc>Acc	p.P1283T		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1283					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.P1283T(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TTGCCAGGCACCCTGGGTGAC	0.527																																						uc001kqf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3847-3849)CCC>ACC		ATP-binding cassette, sub-family C (CFTR/MRP),	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						74.0	72.0	73.0					10																	101604082		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101604082C>A	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.3847C>A	10.37:g.101604082C>A	ENSP00000359478:p.Pro1283Thr						p.P1283T	NM_000392	NP_000383	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	28	3986	+		Colorectal(252;0.234)	1283			Cytoplasmic (By similarity).		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.3847C>A	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.722966	0.68959	.	.	ENSG00000023839	ENST00000370449	D	0.84070	-1.8	5.79	5.79	0.91817	ABC transporter, transmembrane domain, type 1 (1);	0.211412	0.49916	D	0.000133	D	0.88683	0.6503	M	0.65677	2.01	0.80722	D	1	D	0.55605	0.972	P	0.54664	0.758	D	0.89209	0.3563	10	0.87932	D	0	-18.9426	20.04	0.97581	0.0:1.0:0.0:0.0	.	1283	Q92887	MRP2_HUMAN	T	1283	ENSP00000359478:P1283T	ENSP00000359478:P1283T	P	+	1	0	ABCC2	101594072	0.002000	0.14202	1.000000	0.80357	0.930000	0.56654	0.870000	0.28010	2.733000	0.93635	0.655000	0.94253	CCC		PASS	0.527	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		15	30	15	30	---	---	---	---
PKD2L1	9033	broad.mit.edu	37	10	102054794	102054794	+	Silent	SNP	G	G	T	rs570541159		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr10:102054794G>T	ENST00000318222.3	-	8	1825	c.1443C>A	c.(1441-1443)gcC>gcA	p.A481A	PKD2L1_ENST00000353274.3_Silent_p.A481A|PKD2L1_ENST00000338519.3_Silent_p.A406A	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	481					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)	p.A481A(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AGAACATGACGGCGAAGCCCA	0.507																																						uc001kqx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(1441-1443)GCC>GCA		polycystic kidney disease 2-like 1							144.0	135.0	138.0					10																	102054794		2203	4300	6503	SO:0001819	synonymous_variant	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102054794G>T	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1443C>A	10.37:g.102054794G>T						PKD2L1_uc009xwm.1_Silent_p.A434A	p.A481A	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	8	1826	-		Colorectal(252;0.117)	481			Helical; (Potential).		O75972|Q5W039|Q9UP35|Q9UPA2	Silent	SNP	ENST00000318222.3	37	c.1443C>A	CCDS7492.1																																																																																				PASS	0.507	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		20	50	20	50	---	---	---	---
AS3MT	57412	broad.mit.edu	37	10	104638234	104638234	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr10:104638234A>T	ENST00000369880.3	+	8	786	c.709A>T	c.(709-711)Aca>Tca	p.T237S	C10orf32-ASMT_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenite methyltransferase	237					arsonoacetate metabolic process (GO:0018872)|toxin metabolic process (GO:0009404)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	arsenite methyltransferase activity (GO:0030791)|methylarsonite methyltransferase activity (GO:0030792)	p.T237S(1)		large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		CAATCTCATTACAATTCAAAA	0.418																																						uc001kwk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(709-711)ACA>TCA		arsenic (+3 oxidation state) methyltransferase							159.0	151.0	154.0					10																	104638234		1876	4132	6008	SO:0001583	missense	57412				arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity	g.chr10:104638234A>T	AF226730	CCDS41567.1	10q24.33	2014-05-09	2014-05-09		ENSG00000214435	ENSG00000214435	2.1.1.137		17452	protein-coding gene	gene with protein product		611806	"""arsenic (+3 oxidation state) methyltransferase"""			11790780	Standard	NM_020682		Approved	CYT19	uc001kwk.3	Q9HBK9	OTTHUMG00000018972	ENST00000369880.3:c.709A>T	10.37:g.104638234A>T	ENSP00000358896:p.Thr237Ser					AS3MT_uc001kwj.2_Missense_Mutation_p.T239S|AS3MT_uc009xxh.2_Missense_Mutation_p.T237S	p.T237S	NM_020682	NP_065733	Q9HBK9	AS3MT_HUMAN		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)	8	849	+		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)	237					A6NP79|Q0VDK3|Q0VDK4|Q5PZ02	Missense_Mutation	SNP	ENST00000369880.3	37	c.709A>T	CCDS41567.1	.	.	.	.	.	.	.	.	.	.	A	15.49	2.849016	0.51270	.	.	ENSG00000214435	ENST00000369880	T	0.21734	1.99	5.48	4.34	0.51931	.	0.050564	0.85682	D	0.000000	T	0.23649	0.0572	L	0.52905	1.665	0.30382	N	0.781814	B;B;B	0.26363	0.147;0.072;0.072	B;B;B	0.33254	0.16;0.063;0.068	T	0.23940	-1.0174	9	0.41790	T	0.15	-1.9023	11.0375	0.47811	0.8605:0.0:0.0:0.1395	.	237;237;237	Q0VDK3;Q9HBK9;Q0VDK4	.;AS3MT_HUMAN;.	S	237	ENSP00000358896:T237S	ENSP00000358896:T237S	T	+	1	0	AS3MT	104628224	0.992000	0.36948	0.264000	0.24511	0.923000	0.55619	4.144000	0.58057	0.898000	0.36418	-0.444000	0.05651	ACA		PASS	0.418	AS3MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050107.1	NM_020682		24	73	24	73	---	---	---	---
ADRB1	153	broad.mit.edu	37	10	115804389	115804389	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr10:115804389C>A	ENST00000369295.2	+	1	584	c.498C>A	c.(496-498)taC>taA	p.Y166*		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	166					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|aging (GO:0007568)|apoptotic process (GO:0006915)|brown fat cell differentiation (GO:0050873)|diet induced thermogenesis (GO:0002024)|fear response (GO:0042596)|glycogen catabolic process (GO:0005980)|heat generation (GO:0031649)|lipid homeostasis (GO:0055088)|memory (GO:0007613)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of urine volume (GO:0035811)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cation channel activity (GO:2001259)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of saliva secretion (GO:0046878)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of the force of heart contraction by norepinephrine (GO:0003061)|protein localization to organelle (GO:0033365)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|response to cold (GO:0009409)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)|wound healing (GO:0042060)	early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|beta-adrenergic receptor activity (GO:0004939)|beta1-adrenergic receptor activity (GO:0004940)|dopamine binding (GO:0035240)|drug binding (GO:0008144)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|receptor signaling protein activity (GO:0005057)	p.Y166*(1)		large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Asenapine(DB06216)|Atenolol(DB00335)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dobutamine(DB00841)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Esmolol(DB00187)|Fenoterol(DB01288)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Loxapine(DB00408)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Practolol(DB01297)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Salbutamol(DB01001)|Sotalol(DB00489)|Timolol(DB00373)|Trimipramine(DB00726)	CCTTCCGCTACCAGAGCCTGC	0.677																																						uc001lba.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(496-498)TAC>TAA		beta-1-adrenergic receptor	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)						57.0	63.0	61.0					10																	115804389		2203	4300	6503	SO:0001587	stop_gained	153				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity	g.chr10:115804389C>A	J03019	CCDS7586.1	10q25.3	2012-08-08	2012-05-09		ENSG00000043591	ENSG00000043591		"""GPCR / Class A : Adrenoceptors : beta"""	285	protein-coding gene	gene with protein product		109630	"""adrenergic, beta-1-, receptor"""	ADRB1R			Standard	NM_000684		Approved		uc001lba.3	P08588	OTTHUMG00000019079	ENST00000369295.2:c.498C>A	10.37:g.115804389C>A	ENSP00000358301:p.Tyr166*						p.Y166*	NM_000684	NP_000675	P08588	ADRB1_HUMAN		Epithelial(162;0.0124)|all cancers(201;0.0298)	1	584	+		Colorectal(252;0.172)|Breast(234;0.188)	166			Cytoplasmic (By similarity).		B0LPE2|Q5T5Y4|Q9UKG7|Q9UKG8	Nonsense_Mutation	SNP	ENST00000369295.2	37	c.498C>A	CCDS7586.1	.	.	.	.	.	.	.	.	.	.	C	35	5.502473	0.96371	.	.	ENSG00000043591	ENST00000369295	.	.	.	4.42	3.5	0.40072	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0486	0.36363	0.0:0.8284:0.0:0.1716	.	.	.	.	X	166	.	ENSP00000358301:Y166X	Y	+	3	2	ADRB1	115794379	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.928000	0.56506	0.847000	0.35167	0.549000	0.68633	TAC		PASS	0.677	ADRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050448.1			16	32	16	32	---	---	---	---
PNLIPRP1	5407	broad.mit.edu	37	10	118363606	118363606	+	Silent	SNP	T	T	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr10:118363606T>A	ENST00000528052.1	+	11	1199	c.1128T>A	c.(1126-1128)gcT>gcA	p.A376A	PNLIPRP1_ENST00000358834.4_Silent_p.A376A|PNLIPRP1_ENST00000534537.1_Silent_p.A376A			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	376	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)	p.A376A(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TCAAAGTTGCTTTGTTTGGAA	0.413																																						uc001lco.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1126-1128)GCT>GCA		pancreatic lipase-related protein 1 precursor							157.0	140.0	145.0					10																	118363606		2203	4300	6503	SO:0001819	synonymous_variant	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118363606T>A	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.1128T>A	10.37:g.118363606T>A						PNLIPRP1_uc001lcp.2_Silent_p.A376A	p.A376A	NM_006229	NP_006220	P54315	LIPR1_HUMAN		all cancers(201;0.0161)	11	1146	+			376			PLAT.		Q68D83|Q68DR6|Q8TAU2|Q9BS82	Silent	SNP	ENST00000528052.1	37	c.1128T>A	CCDS7595.1																																																																																				PASS	0.413	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		5	16	5	16	---	---	---	---
KCNK18	338567	broad.mit.edu	37	10	118957018	118957018	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr10:118957018C>G	ENST00000334549.1	+	1	19	c.19C>G	c.(19-21)Ccc>Gcc	p.P7A		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	7					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)	p.P7A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CTCGGGGCACCCCCAGGCCAG	0.632																																						uc010qsr.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(19-21)CCC>GCC		potassium channel, subfamily K, member 18							62.0	62.0	62.0					10																	118957018		2203	4300	6503	SO:0001583	missense	338567					integral to membrane|plasma membrane		g.chr10:118957018C>G	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.19C>G	10.37:g.118957018C>G	ENSP00000334650:p.Pro7Ala						p.P7A	NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	1	19	+		Colorectal(252;0.19)	7			Cytoplasmic (Potential).		Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	c.19C>G	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	c	7.238	0.600708	0.13939	.	.	ENSG00000186795	ENST00000334549	T	0.16073	2.37	3.92	0.942	0.19525	.	0.776410	0.12004	N	0.508512	T	0.11452	0.0279	L	0.29908	0.895	0.09310	N	1	B	0.19445	0.036	B	0.12837	0.008	T	0.26292	-1.0107	10	0.52906	T	0.07	.	6.2854	0.21031	0.0:0.4657:0.4236:0.1107	.	7	Q7Z418	KCNKI_HUMAN	A	7	ENSP00000334650:P7A	ENSP00000334650:P7A	P	+	1	0	KCNK18	118947008	0.000000	0.05858	0.013000	0.15412	0.083000	0.17756	0.022000	0.13511	0.213000	0.20722	-0.642000	0.03964	CCC		PASS	0.632	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		11	22	11	22	---	---	---	---
EIF3A	8661	broad.mit.edu	37	10	120797901	120797901	+	Silent	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr10:120797901G>T	ENST00000369144.3	-	20	3704	c.3577C>A	c.(3577-3579)Cga>Aga	p.R1193R	EIF3A_ENST00000541549.1_Silent_p.R1159R	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)	p.R1193R(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CTTGATTCTCGAGGTGGACCC	0.408																																						uc001ldu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(3577-3579)CGA>AGA		eukaryotic translation initiation factor 3,							242.0	230.0	234.0					10																	120797901		2203	4300	6503	SO:0001819	synonymous_variant	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120797901G>T	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3577C>A	10.37:g.120797901G>T						EIF3A_uc010qsu.1_Silent_p.R1159R|EIF3A_uc009xzg.1_Silent_p.R232R	p.R1193R	NM_003750	NP_003741	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	20	3723	-		Lung NSC(174;0.094)|all_lung(145;0.123)	1193			Asp-rich.		B7ZBG9|Q6IBN8|Q96TD5	Silent	SNP	ENST00000369144.3	37	c.3577C>A	CCDS7608.1																																																																																				PASS	0.408	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		6	152	6	152	---	---	---	---
CUZD1	50624	broad.mit.edu	37	10	124594350	124594350	+	Silent	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr10:124594350C>T	ENST00000368904.1	-	9	2203	c.1254G>A	c.(1252-1254)ttG>ttA	p.L418L	CUZD1_ENST00000545804.1_Silent_p.L418L|CUZD1_ENST00000392790.1_Silent_p.L418L					CUB and zona pellucida-like domains 1									p.L418L(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		GAGTTTGGTTCAAATCCACAT	0.383																																						uc001lgq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1252-1254)TTG>TTA		CUB and zona pellucida-like domains 1 precursor							79.0	74.0	76.0					10																	124594350		2203	4300	6503	SO:0001819	synonymous_variant	50624				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane		g.chr10:124594350C>T	AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.1254G>A	10.37:g.124594350C>T						CUZD1_uc001lgp.2_Silent_p.L137L|CUZD1_uc009yad.2_Silent_p.L137L|CUZD1_uc009yaf.2_Silent_p.L52L|CUZD1_uc001lgr.2_Silent_p.L137L|CUZD1_uc010qty.1_Silent_p.L137L|CUZD1_uc009yae.2_Silent_p.L137L|CUZD1_uc001lgs.2_Silent_p.L418L|CUZD1_uc010qtz.1_Silent_p.L418L	p.L418L	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)	7	1586	-		all_neural(114;0.169)|Glioma(114;0.222)	418			Extracellular (Potential).|ZP.			Silent	SNP	ENST00000368904.1	37	c.1254G>A	CCDS7631.1																																																																																				PASS	0.383	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	NM_022034		10	25	10	25	---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129902137	129902137	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr10:129902137G>T	ENST00000368654.3	-	13	8342	c.7967C>A	c.(7966-7968)cCa>cAa	p.P2656Q	MKI67_ENST00000368653.3_Missense_Mutation_p.P2296Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2656	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.P2656Q(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTCTTCTACTGGGTTTGGTTT	0.512																																						uc001lke.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(7966-7968)CCA>CAA		antigen identified by monoclonal antibody Ki-67							164.0	170.0	168.0					10																	129902137		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129902137G>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.7967C>A	10.37:g.129902137G>T	ENSP00000357643:p.Pro2656Gln					MKI67_uc001lkf.2_Missense_Mutation_p.P2296Q|MKI67_uc009yav.1_Missense_Mutation_p.P2231Q|MKI67_uc009yaw.1_Missense_Mutation_p.P1806Q	p.P2656Q	NM_002417	NP_002408	P46013	KI67_HUMAN			13	8162	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2656			14.|16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.7967C>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095654	0.36952	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02301	4.35;4.35	3.68	1.68	0.24146	.	1.067000	0.07404	N	0.891193	T	0.08935	0.0221	L	0.57536	1.79	0.09310	N	1	P;D;D	0.76494	0.851;0.994;0.999	B;P;D	0.75020	0.32;0.81;0.985	T	0.36311	-0.9753	10	0.42905	T	0.14	.	8.2901	0.31952	0.0:0.0:0.5693:0.4307	.	2655;2296;2656	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	Q	2656;2296;2655	ENSP00000357643:P2656Q;ENSP00000357642:P2296Q	ENSP00000357642:P2296Q	P	-	2	0	MKI67	129792127	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.129000	0.15830	0.286000	0.22352	-0.309000	0.09137	CCA		PASS	0.512	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		21	53	21	53	---	---	---	---
SIRT3	23410	broad.mit.edu	37	11	218844	218844	+	Silent	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr11:218844C>A	ENST00000382743.4	-	6	1269	c.1167G>T	c.(1165-1167)cgG>cgT	p.R389R	SIRT3_ENST00000532956.1_Silent_p.R335R|SIRT3_ENST00000524564.1_Silent_p.R325R|SIRT3_ENST00000529382.1_Silent_p.R247R|SIRT3_ENST00000525319.1_Silent_p.R308R	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	389					aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)	p.R389R(1)		endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		TCCCAGTTTCCCGCTGCACAA	0.607																																						uc001lok.3																			1	Substitution - coding silent(1)		lung(1)	urinary_tract(1)	1						c.(1165-1167)CGG>CGT		sirtuin 3 isoform a							115.0	98.0	104.0					11																	218844		2203	4300	6503	SO:0001819	synonymous_variant	23410				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	g.chr11:218844C>A	AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3"", ""sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"""			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.1167G>T	11.37:g.218844C>A						SIRT3_uc001loj.3_Silent_p.R247R|SIRT3_uc010qvm.1_Silent_p.R325R|SIRT3_uc010qvn.1_Silent_p.R308R|SIRT3_uc010qvo.1_Silent_p.R389R|SIRT3_uc010qvp.1_Silent_p.R335R|SIRT3_uc010qvq.1_Silent_p.R247R	p.R389R	NM_012239	NP_036371	Q9NTG7	SIRT3_HUMAN		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)	6	1201	-		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	389					B7Z5U6|Q9Y6E8	Silent	SNP	ENST00000382743.4	37	c.1167G>T	CCDS7691.1																																																																																				PASS	0.607	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239288.3			13	35	13	35	---	---	---	---
ATHL1	80162	broad.mit.edu	37	11	292014	292014	+	Silent	SNP	A	A	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr11:292014A>G	ENST00000409548.2	+	5	1060	c.945A>G	c.(943-945)ccA>ccG	p.P315P	ATHL1_ENST00000409479.1_Silent_p.P315P|ATHL1_ENST00000409655.1_Silent_p.P138P	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	315					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.P138P(1)|p.P315P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGTTCCACCCAGAAGCCGCCA	0.672																																						uc010qvu.1																			2	Substitution - coding silent(2)		lung(2)	liver(1)|central_nervous_system(1)|skin(1)	3						c.(943-945)CCA>CCG		ATH1, acid trehalase-like 1							57.0	48.0	51.0					11																	292014		2202	4300	6502	SO:0001819	synonymous_variant	80162				carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds	g.chr11:292014A>G	AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409548.2:c.945A>G	11.37:g.292014A>G						ATHL1_uc001lor.3_Silent_p.P138P|ATHL1_uc001los.1_Silent_p.P315P|ATHL1_uc001lou.3_5'Flank|ATHL1_uc001lov.3_5'Flank	p.P315P	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	5	1060	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	315					Q658X8|Q8TEG9|Q9H635	Silent	SNP	ENST00000409548.2	37	c.945A>G	CCDS31322.2																																																																																				PASS	0.672	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330164.3	NM_025092		5	10	5	10	---	---	---	---
OR51F1	256892	broad.mit.edu	37	11	4790944	4790944	+	Silent	SNP	T	T	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr11:4790944T>C	ENST00000380383.1	-	1	224	c.225A>G	c.(223-225)ctA>ctG	p.L75L	OR51F1_ENST00000343430.3_Silent_p.L68L|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L68L(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CAGTGGCTGATAGCCTGAAGA	0.448																																						uc010qyl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(202-204)CTA>CTG		olfactory receptor, family 51, subfamily F,							70.0	66.0	67.0					11																	4790944		2201	4298	6499	SO:0001819	synonymous_variant	256892					integral to membrane	olfactory receptor activity	g.chr11:4790944T>C	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.225A>G	11.37:g.4790944T>C							p.L68L	NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	204	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	68						Silent	SNP	ENST00000380383.1	37	c.204A>G																																																																																					PASS	0.448	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		11	25	11	25	---	---	---	---
OR51S1	119692	broad.mit.edu	37	11	4870257	4870257	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr11:4870257G>A	ENST00000322101.2	-	1	257	c.182C>T	c.(181-183)cCc>cTc	p.P61L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P61L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGCAGGGCGGGCTGCAGGGC	0.562																																						uc010qyo.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(181-183)CCC>CTC		olfactory receptor, family 51, subfamily S,							111.0	89.0	96.0					11																	4870257		2201	4298	6499	SO:0001583	missense	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4870257G>A	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.182C>T	11.37:g.4870257G>A	ENSP00000322754:p.Pro61Leu						p.P61L	NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	182	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	61			Cytoplasmic (Potential).		B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	c.182C>T	CCDS31362.1	.	.	.	.	.	.	.	.	.	.	G	7.445	0.641423	0.14451	.	.	ENSG00000176922	ENST00000322101	T	0.03801	3.8	4.85	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	0.181563	0.26907	N	0.021892	T	0.09862	0.0242	M	0.81341	2.54	0.09310	N	1	P	0.36354	0.549	B	0.40329	0.326	T	0.07462	-1.0771	10	0.54805	T	0.06	-10.3854	8.4999	0.33152	0.0:0.1505:0.539:0.3106	.	61	Q8NGJ8	O51S1_HUMAN	L	61	ENSP00000322754:P61L	ENSP00000322754:P61L	P	-	2	0	OR51S1	4826833	0.001000	0.12720	0.073000	0.20177	0.120000	0.20174	0.308000	0.19314	0.600000	0.29862	0.563000	0.77884	CCC		PASS	0.562	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		22	38	22	38	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6644526	6644526	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr11:6644526G>A	ENST00000299441.3	-	21	8792	c.8381C>T	c.(8380-8382)tCa>tTa	p.S2794L	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2794	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S2794L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACAGAGGCTGAGAGATTCCC	0.567																																						uc001mem.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(8380-8382)TCA>TTA		dachsous 1 precursor							36.0	32.0	33.0					11																	6644526		2201	4294	6495	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6644526G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.8381C>T	11.37:g.6644526G>A	ENSP00000299441:p.Ser2794Leu						p.S2794L	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	8791	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2794			Cadherin 26.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.8381C>T	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493249	0.64186	.	.	ENSG00000166341	ENST00000299441	T	0.55588	0.51	4.97	4.97	0.65823	Cadherin (4);Cadherin-like (1);	0.000000	0.33290	N	0.005075	T	0.70789	0.3264	M	0.67625	2.065	0.58432	D	0.999995	D	0.89917	1.0	D	0.75484	0.986	T	0.71251	-0.4648	10	0.48119	T	0.1	.	17.4058	0.87473	0.0:0.0:1.0:0.0	.	2794	Q96JQ0	PCD16_HUMAN	L	2794	ENSP00000299441:S2794L	ENSP00000299441:S2794L	S	-	2	0	DCHS1	6601102	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.781000	0.85668	2.587000	0.87381	0.655000	0.94253	TCA		PASS	0.567	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		4	8	4	8	---	---	---	---
OR5P2	120065	broad.mit.edu	37	11	7818157	7818157	+	Silent	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr11:7818157C>A	ENST00000329434.2	-	1	363	c.333G>T	c.(331-333)ctG>ctT	p.L111L	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L111L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCATGGCAGCCAGAAGGACGC	0.473																																						uc001mfp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(331-333)CTG>CTT		olfactory receptor, family 5, subfamily P,							92.0	106.0	102.0					11																	7818157		2104	4292	6396	SO:0001819	synonymous_variant	120065				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7818157C>A	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.333G>T	11.37:g.7818157C>A							p.L111L	NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	333	-			111			Helical; Name=3; (Potential).		Q3MIS8	Silent	SNP	ENST00000329434.2	37	c.333G>T	CCDS7782.1																																																																																				PASS	0.473	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		40	86	40	86	---	---	---	---
MICALCL	84953	broad.mit.edu	37	11	12316029	12316029	+	Missense_Mutation	SNP	C	C	T	rs113400332	byFrequency	TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr11:12316029C>T	ENST00000256186.2	+	3	1342	c.1051C>T	c.(1051-1053)Cgg>Tgg	p.R351W		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	351					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.R351W(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TTTGCCCAATCGGCCATCCAA	0.552													C|||	8	0.00159744	0.0053	0.0	5008	,	,		14531	0.0		0.001	False		,,,				2504	0.0					uc001mkg.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1051-1053)CGG>TGG		MICAL C-terminal like		C	TRP/ARG	11,3963		0,11,1976	83.0	92.0	89.0		1051	3.5	0.0	11	dbSNP_132	89	2,8310		0,2,4154	yes	missense	MICALCL	NM_032867.2	101	0,13,6130	TT,TC,CC		0.0241,0.2768,0.1058	probably-damaging	351/696	12316029	13,12273	1987	4156	6143	SO:0001583	missense	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12316029C>T	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1051C>T	11.37:g.12316029C>T	ENSP00000256186:p.Arg351Trp						p.R351W	NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	1342	+			351					Q7RTP7|Q96JU6	Missense_Mutation	SNP	ENST00000256186.2	37	c.1051C>T	CCDS41620.1	5	0.0022893772893772895	4	0.008130081300813009	0	0.0	0	0.0	1	0.0013192612137203166	C	15.44	2.833861	0.50951	0.002768	2.41E-4	ENSG00000133808	ENST00000256186	T	0.12465	2.68	5.6	3.48	0.39840	.	0.175066	0.26761	N	0.022637	T	0.25269	0.0614	M	0.68952	2.095	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.02505	-1.1149	10	0.72032	D	0.01	.	11.7948	0.52093	0.3298:0.6702:0.0:0.0	.	351	Q6ZW33	MICLK_HUMAN	W	351	ENSP00000256186:R351W	ENSP00000256186:R351W	R	+	1	2	MICALCL	12272605	0.000000	0.05858	0.004000	0.12327	0.794000	0.44872	0.272000	0.18644	1.309000	0.44985	0.460000	0.39030	CGG		PASS	0.552	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		35	80	35	80	---	---	---	---
ANO3	63982	broad.mit.edu	37	11	26574888	26574888	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr11:26574888C>A	ENST00000256737.3	+	13	2234	c.1382C>A	c.(1381-1383)gCc>gAc	p.A461D	ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000525139.1_Missense_Mutation_p.A445D|ANO3_ENST00000537978.1_Missense_Mutation_p.A445D|ANO3_ENST00000531568.1_Missense_Mutation_p.A315D	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	461					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)	p.A461D(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TGTATCTATGCCAAGGTGAGT	0.458																																						uc001mqt.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1381-1383)GCC>GAC		transmembrane protein 16C							148.0	139.0	142.0					11																	26574888		2203	4300	6503	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26574888C>A	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1382C>A	11.37:g.26574888C>A	ENSP00000256737:p.Ala461Asp					ANO3_uc010rdr.1_Missense_Mutation_p.A445D|ANO3_uc010rds.1_Missense_Mutation_p.A300D|ANO3_uc010rdt.1_Missense_Mutation_p.A315D	p.A461D	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN			13	1527	+			461			Extracellular (Potential).		B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.1382C>A	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	C	33	5.235279	0.95207	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.74842	-0.87;-0.87;-0.88;-0.74	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.88012	0.6323	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.89120	0.3502	10	0.87932	D	0	.	19.5765	0.95446	0.0:1.0:0.0:0.0	.	363;461	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	D	445;445;461;363;315	ENSP00000440737:A445D;ENSP00000432576:A445D;ENSP00000256737:A461D;ENSP00000432394:A315D	ENSP00000256737:A461D	A	+	2	0	ANO3	26531464	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.561000	0.82288	2.633000	0.89246	0.637000	0.83480	GCC		PASS	0.458	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		58	107	58	107	---	---	---	---
NAT10	55226	broad.mit.edu	37	11	34158541	34158541	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr11:34158541G>T	ENST00000257829.3	+	21	2385	c.2179G>T	c.(2179-2181)Gga>Tga	p.G727*	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Nonsense_Mutation_p.G655*	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	727	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.|Required for localization to the nucleolus and midbody.					membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)	p.G727*(1)		endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GAAACGAGCTGGATTTGTTCC	0.512																																						uc001mvk.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2179-2181)GGA>TGA		N-acetyltransferase 10 isoform a							138.0	125.0	129.0					11																	34158541		2202	4298	6500	SO:0001587	stop_gained	55226					nucleolus	ATP binding|N-acetyltransferase activity|protein binding	g.chr11:34158541G>T	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.2179G>T	11.37:g.34158541G>T	ENSP00000257829:p.Gly727*					NAT10_uc010ren.1_Nonsense_Mutation_p.G655*	p.G727*	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN			21	2423	+		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)	727			N-acetyltransferase.|Required for localization to the nucleolus and midbody.		B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Nonsense_Mutation	SNP	ENST00000257829.3	37	c.2179G>T	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	G	41	8.702101	0.98920	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-17.252	18.4653	0.90752	0.0:0.0:1.0:0.0	.	.	.	.	X	727;655	.	ENSP00000257829:G727X	G	+	1	0	NAT10	34115117	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.651000	0.98493	2.346000	0.79739	0.561000	0.74099	GGA		PASS	0.512	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662		4	18	4	18	---	---	---	---
CRY2	1408	broad.mit.edu	37	11	45889225	45889225	+	Silent	SNP	A	A	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr11:45889225A>T	ENST00000443527.2	+	6	889	c.867A>T	c.(865-867)acA>acT	p.T289T	CRY2_ENST00000417225.2_Silent_p.T207T	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	268					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)	p.T268T(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CCAGCCCCACAGGCCTCAGCC	0.572																																					Esophageal Squamous(106;91 1499 8126 12599 39610)	uc010rgn.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(865-867)ACA>ACT		cryptochrome 2 (photolyase-like) isoform 1							97.0	93.0	94.0					11																	45889225		2203	4299	6502	SO:0001819	synonymous_variant	1408				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding	g.chr11:45889225A>T	AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"""cryptochrome 2 (photolyase-like)"""			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.867A>T	11.37:g.45889225A>T						CRY2_uc009ykw.2_Silent_p.T207T|CRY2_uc010rgo.1_Silent_p.T11T	p.T289T	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN			6	889	+			268			FAD-binding.		B4DH32|B4DZD6|O75148|Q8IV71	Silent	SNP	ENST00000443527.2	37	c.867A>T	CCDS7915.2																																																																																				PASS	0.572	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330235.2	NM_021117		21	53	21	53	---	---	---	---
KBTBD4	55709	broad.mit.edu	37	11	47595308	47595308	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr11:47595308C>A	ENST00000526005.1	-	4	884	c.731G>T	c.(730-732)gGg>gTg	p.G244V	KBTBD4_ENST00000533290.1_Missense_Mutation_p.G269V|KBTBD4_ENST00000430070.2_Missense_Mutation_p.G260V|RNU5E-10P_ENST00000363506.1_RNA|KBTBD4_ENST00000395288.2_Missense_Mutation_p.G244V|NDUFS3_ENST00000533507.1_Intron			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	244								p.G244V(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						TGACTCTTTCCCAATCAGGTA	0.433																																						uc001nfx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(730-732)GGG>GTG		kelch repeat and BTB (POZ) domain containing 4							90.0	87.0	88.0					11																	47595308		2201	4298	6499	SO:0001583	missense	55709							g.chr11:47595308C>A	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.731G>T	11.37:g.47595308C>A	ENSP00000433340:p.Gly244Val					NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.1_Missense_Mutation_p.G269V|KBTBD4_uc001nfz.2_Missense_Mutation_p.G260V|KBTBD4_uc001nfy.2_Missense_Mutation_p.G244V	p.G244V	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN			4	902	-			244			Kelch 1.		D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	ENST00000526005.1	37	c.731G>T	CCDS7940.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095512	0.76870	.	.	ENSG00000123444	ENST00000526005;ENST00000533290;ENST00000395288;ENST00000359900;ENST00000430070	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	5.62	5.62	0.85841	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.82370	0.5022	L	0.57536	1.79	0.80722	D	1	D;D;D	0.58970	0.981;0.984;0.967	P;P;P	0.57679	0.789;0.825;0.619	T	0.82212	-0.0569	10	0.51188	T	0.08	-21.4954	19.6591	0.95857	0.0:1.0:0.0:0.0	.	260;244;269	Q9NVX7-2;Q9NVX7;B3KRH9	.;KBTB4_HUMAN;.	V	244;269;244;253;260	ENSP00000433340:G244V;ENSP00000436713:G269V;ENSP00000378703:G244V;ENSP00000415106:G260V	ENSP00000352971:G253V	G	-	2	0	KBTBD4	47551884	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.403000	0.79983	2.648000	0.89879	0.655000	0.94253	GGG		PASS	0.433	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		5	75	5	75	---	---	---	---
AGBL2	79841	broad.mit.edu	37	11	47712000	47712000	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr11:47712000C>A	ENST00000525123.1	-	10	1544	c.1259G>T	c.(1258-1260)tGc>tTc	p.C420F	AGBL2_ENST00000298861.4_Missense_Mutation_p.C420F|AGBL2_ENST00000528244.1_Missense_Mutation_p.C382F|AGBL2_ENST00000357610.3_Missense_Mutation_p.C420F|AGBL2_ENST00000529712.1_5'UTR	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	420						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.C420F(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TTGGAGCTTGCAGAACTGAGA	0.478																																						uc001ngg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1258-1260)TGC>TTC		carboxypeptidase 2, cytosolic							127.0	113.0	118.0					11																	47712000		2201	4298	6499	SO:0001583	missense	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47712000C>A		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.1259G>T	11.37:g.47712000C>A	ENSP00000435582:p.Cys420Phe					AGBL2_uc001ngf.2_RNA|AGBL2_uc010rhq.1_Missense_Mutation_p.C382F|AGBL2_uc001ngh.1_Missense_Mutation_p.C364F	p.C420F	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN			9	1359	-			420					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	c.1259G>T	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939533	0.73557	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244	T;T;T;T	0.10668	2.85;2.85;2.85;2.85	5.57	5.57	0.84162	Peptidase M14, carboxypeptidase A (1);	0.000000	0.85682	D	0.000000	T	0.21801	0.0525	L	0.61218	1.895	0.80722	D	1	P;B;B	0.46395	0.877;0.236;0.115	P;B;B	0.47915	0.561;0.374;0.345	T	0.00171	-1.1960	9	.	.	.	-17.0652	19.9093	0.97021	0.0:1.0:0.0:0.0	.	382;382;420	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	F	420;420;420;382	ENSP00000435582:C420F;ENSP00000350228:C420F;ENSP00000298861:C420F;ENSP00000436630:C382F	.	C	-	2	0	AGBL2	47668576	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.238000	0.78173	2.785000	0.95823	0.655000	0.94253	TGC		PASS	0.478	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		22	40	22	40	---	---	---	---
OR4C12	283093	broad.mit.edu	37	11	50003265	50003265	+	Missense_Mutation	SNP	C	C	G	rs141386333	byFrequency	TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr11:50003265C>G	ENST00000335238.4	-	1	806	c.773G>C	c.(772-774)cGc>cCc	p.R258P		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R258L(1)|p.R258P(1)|p.R258H(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GGTCACTGAGCGCAGATACAC	0.433																																						uc010ria.1																			3	Substitution - Missense(3)		lung(3)	ovary(2)|skin(1)	3						c.(772-774)CGC>CCC		olfactory receptor, family 4, subfamily C,							73.0	67.0	69.0					11																	50003265		2201	4296	6497	SO:0001583	missense	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003265C>G	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.773G>C	11.37:g.50003265C>G	ENSP00000334418:p.Arg258Pro						p.R258P	NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN			1	773	-			258			Extracellular (Potential).		B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	c.773G>C	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	10.62	1.402623	0.25291	.	.	ENSG00000221954	ENST00000335238	T	0.38240	1.15	2.98	2.98	0.34508	GPCR, rhodopsin-like superfamily (1);	0.169304	0.27886	U	0.017446	T	0.65790	0.2725	M	0.92268	3.29	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.60193	-0.7311	10	0.87932	D	0	.	11.934	0.52864	0.0:1.0:0.0:0.0	.	258	Q96R67	OR4CC_HUMAN	P	258	ENSP00000334418:R258P	ENSP00000334418:R258P	R	-	2	0	OR4C12	49959841	0.001000	0.12720	0.236000	0.24074	0.390000	0.30446	1.308000	0.33528	1.698000	0.51180	0.398000	0.26397	CGC		PASS	0.433	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		5	30	5	30	---	---	---	---
OR8K1	390157	broad.mit.edu	37	11	56113634	56113634	+	Silent	SNP	A	A	T	rs149499466		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr11:56113634A>T	ENST00000279783.2	+	1	214	c.120A>T	c.(118-120)atA>atT	p.I40I		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I40I(1)		large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TCCTCATCATATATCTGGTCA	0.463										HNSCC(65;0.19)																												uc010rjg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(118-120)ATA>ATT		olfactory receptor, family 8, subfamily K,							143.0	128.0	133.0					11																	56113634		2201	4296	6497	SO:0001819	synonymous_variant	390157				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56113634A>T	AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.120A>T	11.37:g.56113634A>T		HNSCC(65;0.19)					p.I40I	NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN			1	120	+	Esophageal squamous(21;0.00448)		40			Helical; Name=1; (Potential).		B9EJB1|Q6IFC3|Q96RC1	Silent	SNP	ENST00000279783.2	37	c.120A>T	CCDS31528.1																																																																																				PASS	0.463	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907		14	33	14	33	---	---	---	---
FADS2	9415	broad.mit.edu	37	11	61624947	61624947	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr11:61624947C>G	ENST00000278840.4	+	7	1457	c.827C>G	c.(826-828)cCc>cGc	p.P276R	FADS2_ENST00000522056.1_Missense_Mutation_p.P245R|FADS2_ENST00000521849.1_Missense_Mutation_p.P276R|FADS2_ENST00000257261.6_Missense_Mutation_p.P254R	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	276					alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)	p.P276R(1)|p.P254R(1)		breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CTGCTCATCCCCATGTATTTC	0.592																																						uc001nsl.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(826-828)CCC>CGC		fatty acid desaturase 2	Alpha-Linolenic Acid(DB00132)						137.0	121.0	127.0					11																	61624947		2202	4299	6501	SO:0001583	missense	9415				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding	g.chr11:61624947C>G	AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"""Fatty acid desaturases"""	3575	protein-coding gene	gene with protein product	"""delta-6-desaturase"""	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.827C>G	11.37:g.61624947C>G	ENSP00000278840:p.Pro276Arg					FADS2_uc001nsj.2_Missense_Mutation_p.P254R|FADS2_uc010rlo.1_Missense_Mutation_p.P245R|FADS2_uc001nsk.2_Missense_Mutation_p.P276R	p.P276R	NM_004265	NP_004256	O95864	FADS2_HUMAN			7	977	+			276			Helical; (Potential).		A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Missense_Mutation	SNP	ENST00000278840.4	37	c.827C>G	CCDS8012.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237876	0.79800	.	.	ENSG00000134824	ENST00000257261;ENST00000522056;ENST00000278840;ENST00000521849;ENST00000521571;ENST00000355484	D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	5.21	4.28	0.50868	Fatty acid desaturase, type 1 (1);	0.000000	0.56097	D	0.000027	D	0.89839	0.6831	M	0.69358	2.11	0.58432	D	0.999998	D;D;D;D	0.89917	0.997;1.0;0.999;0.998	D;D;D;D	0.81914	0.974;0.995;0.988;0.983	D	0.87258	0.2277	10	0.24483	T	0.36	-14.2051	13.0149	0.58751	0.0:0.9187:0.0:0.0813	.	245;276;276;254	B7Z634;O95864;O95864-3;O95864-2	.;FADS2_HUMAN;.;.	R	254;245;276;276;42;42	ENSP00000257261:P254R;ENSP00000429500:P245R;ENSP00000278840:P276R;ENSP00000431091:P276R;ENSP00000443867:P42R;ENSP00000437965:P42R	ENSP00000257261:P254R	P	+	2	0	FADS2	61381523	0.995000	0.38212	0.981000	0.43875	0.997000	0.91878	3.243000	0.51392	2.432000	0.82394	0.561000	0.74099	CCC		PASS	0.592	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375586.2	NM_004265		11	48	11	48	---	---	---	---
SPTBN2	6712	broad.mit.edu	37	11	66463960	66463960	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr11:66463960C>A	ENST00000533211.1	-	21	4397	c.4066G>T	c.(4066-4068)Gag>Tag	p.E1356*	SPTBN2_ENST00000529997.1_Nonsense_Mutation_p.E1356*|SPTBN2_ENST00000309996.2_Nonsense_Mutation_p.E1356*			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1356					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.E1356*(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTCAGCTTCTCCGACACCAGG	0.577																																						uc001ojd.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(4066-4068)GAG>TAG		spectrin, beta, non-erythrocytic 2							99.0	109.0	106.0					11																	66463960		2200	4295	6495	SO:0001587	stop_gained	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66463960C>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.4066G>T	11.37:g.66463960C>A	ENSP00000432568:p.Glu1356*						p.E1356*	NM_006946	NP_008877	O15020	SPTN2_HUMAN			20	4138	-			1356			Spectrin 10.		O14872|O14873	Nonsense_Mutation	SNP	ENST00000533211.1	37	c.4066G>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	45	11.733298	0.99596	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	.	.	.	4.7	4.7	0.59300	.	0.128899	0.51477	D	0.000082	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	16.5646	0.84575	0.0:1.0:0.0:0.0	.	.	.	.	X	1356	.	ENSP00000311489:E1356X	E	-	1	0	SPTBN2	66220536	0.715000	0.27946	0.979000	0.43373	0.978000	0.69477	1.268000	0.33062	2.450000	0.82876	0.557000	0.71058	GAG		PASS	0.577	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		6	131	6	131	---	---	---	---
PPP1CA	5499	broad.mit.edu	37	11	67168617	67168617	+	Missense_Mutation	SNP	C	C	A	rs547598243		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr11:67168617C>A	ENST00000376745.4	-	2	257	c.109G>T	c.(109-111)Ggt>Tgt	p.G37C	PPP1CA_ENST00000312989.7_Missense_Mutation_p.G48C|TBC1D10C_ENST00000526387.1_5'Flank|TBC1D10C_ENST00000312390.5_5'Flank|PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000358239.4_Intron	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	37					branching morphogenesis of an epithelial tube (GO:0048754)|cell cycle (GO:0007049)|cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|lung development (GO:0030324)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)|ribonucleoprotein complex binding (GO:0043021)	p.G134C(2)|p.G37C(1)|p.G48C(1)		breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			AGGCACAGACCGCGGATCTCG	0.632																																						uc001okw.1																			4	Substitution - Missense(4)		lung(4)	breast(1)|pancreas(1)	2						c.(109-111)GGT>TGT		protein phosphatase 1, catalytic subunit, alpha							66.0	75.0	72.0					11																	67168617		2200	4295	6495	SO:0001583	missense	5499				cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity	g.chr11:67168617C>A		CCDS8160.1, CCDS8161.1, CCDS31618.1	11q13	2013-01-18	2010-03-05			ENSG00000172531	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9281	protein-coding gene	gene with protein product		176875	"""protein phosphatase 1, catalytic subunit, alpha isoform"""	PPP1A			Standard	NM_002708		Approved	PP1A, PP-1A, PP1alpha	uc001oku.1	P62136		ENST00000376745.4:c.109G>T	11.37:g.67168617C>A	ENSP00000365936:p.Gly37Cys					PPP1CA_uc009yro.1_5'UTR|PPP1CA_uc001okt.1_Missense_Mutation_p.G42C|PPP1CA_uc001oku.1_Missense_Mutation_p.G48C|PPP1CA_uc001okv.1_Intron|PPP1CA_uc001okx.1_Missense_Mutation_p.G125C|PPP1CA_uc001oky.2_Missense_Mutation_p.G37C|TBC1D10C_uc001okz.2_5'Flank|TBC1D10C_uc001ola.2_5'Flank|TBC1D10C_uc001olb.2_5'Flank	p.G37C	NM_002708	NP_002699	P62136	PP1A_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.53e-07)		2	232	-			37					A6NNR3|B2R908|P08129|P20653|P22802|Q07161	Missense_Mutation	SNP	ENST00000376745.4	37	c.109G>T	CCDS8160.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.376667	0.42105	.	.	ENSG00000172531	ENST00000312989;ENST00000451458;ENST00000376745;ENST00000527663;ENST00000546202;ENST00000542876	T;T;T;T;T	0.05649	3.41;3.41;3.41;3.41;3.41	4.93	4.93	0.64822	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.000000	0.85682	D	0.000000	T	0.14356	0.0347	M	0.91406	3.205	0.80722	D	1	P;P;B;B;B	0.38440	0.631;0.631;0.131;0.081;0.021	B;B;B;B;B	0.29440	0.102;0.061;0.026;0.028;0.031	T	0.10776	-1.0615	10	0.52906	T	0.07	.	17.3129	0.87214	0.0:1.0:0.0:0.0	.	134;134;37;48;46	B3KXM2;E9PDP1;P62136;Q07161;F8W0W8	.;.;PP1A_HUMAN;.;.	C	48;134;37;37;122;134	ENSP00000326031:G48C;ENSP00000365936:G37C;ENSP00000431146:G37C;ENSP00000439568:G122C;ENSP00000438409:G134C	ENSP00000326031:G48C	G	-	1	0	PPP1CA	66925193	1.000000	0.71417	0.144000	0.22314	0.012000	0.07955	7.710000	0.84655	2.451000	0.82905	0.563000	0.77884	GGT		PASS	0.632	PPP1CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395487.1	NM_002708		15	17	15	17	---	---	---	---
CPT1A	1374	broad.mit.edu	37	11	68552317	68552317	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr11:68552317C>A	ENST00000265641.5	-	10	1283	c.1129G>T	c.(1129-1131)Gag>Tag	p.E377*	CPT1A_ENST00000376618.2_Nonsense_Mutation_p.E377*|CPT1A_ENST00000540367.1_Nonsense_Mutation_p.E377*|CPT1A_ENST00000539743.1_Nonsense_Mutation_p.E377*	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	377					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.E377*(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	AGCCTGGCCTCCCCGGGCTGA	0.657																																						uc001oog.3																			1	Substitution - Nonsense(1)		lung(1)	skin(2)	2						c.(1129-1131)GAG>TAG		carnitine palmitoyltransferase 1A liver isoform	L-Carnitine(DB00583)|Perhexiline(DB01074)						56.0	52.0	54.0					11																	68552317		2200	4294	6494	SO:0001587	stop_gained	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68552317C>A	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1129G>T	11.37:g.68552317C>A	ENSP00000265641:p.Glu377*					CPT1A_uc001oof.3_Nonsense_Mutation_p.E377*|CPT1A_uc009ysj.2_Intron	p.E377*	NM_001876	NP_001867	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		10	1299	-	Esophageal squamous(3;3.28e-14)		377			Cytoplasmic (Potential).		Q8TCU0|Q9BWK0	Nonsense_Mutation	SNP	ENST00000265641.5	37	c.1129G>T	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	C	36	5.787370	0.96937	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	.	.	.	5.06	4.15	0.48705	.	0.107776	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	13.0131	0.58741	0.0:0.9222:0.0:0.0778	.	.	.	.	X	377	.	ENSP00000265641:E377X	E	-	1	0	CPT1A	68308893	1.000000	0.71417	0.458000	0.27068	0.805000	0.45488	7.543000	0.82106	1.137000	0.42214	0.563000	0.77884	GAG		PASS	0.657	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		5	16	5	16	---	---	---	---
MAP6	4135	broad.mit.edu	37	11	75299068	75299068	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr11:75299068G>T	ENST00000304771.3	-	4	2228	c.1478C>A	c.(1477-1479)cCa>cAa	p.P493Q	CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Missense_Mutation_p.P164Q|MAP6_ENST00000526689.1_5'UTR	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	493	Pro-rich.				dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)		p.P493Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TAGATCCTTTGGAGGCCCTGG	0.512																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	uc001owu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1477-1479)CCA>CAA		microtubule-associated protein 6 isoform 1							163.0	157.0	159.0					11																	75299068		2200	4293	6493	SO:0001583	missense	4135					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	g.chr11:75299068G>T	AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.1478C>A	11.37:g.75299068G>T	ENSP00000307093:p.Pro493Gln						p.P493Q	NM_033063	NP_149052	Q96JE9	MAP6_HUMAN			4	1543	-	Ovarian(111;0.11)		493			Pro-rich.		A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	ENST00000304771.3	37	c.1478C>A	CCDS31641.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854052	0.51270	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476	T	0.42131	0.98	4.35	-5.55	0.02536	.	0.946525	0.08709	N	0.905222	T	0.23094	0.0558	L	0.40543	1.245	0.09310	N	1	B	0.22480	0.07	B	0.15870	0.014	T	0.23084	-1.0198	10	0.25106	T	0.35	0.0	1.1241	0.01731	0.4124:0.1109:0.2549:0.2219	.	493	Q96JE9	MAP6_HUMAN	Q	493;164;164	ENSP00000307093:P493Q	ENSP00000307093:P493Q	P	-	2	0	MAP6	74976716	0.000000	0.05858	0.000000	0.03702	0.820000	0.46376	-0.790000	0.04604	-1.055000	0.03209	-0.345000	0.07892	CCA		PASS	0.512	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	NM_033063		6	109	6	109	---	---	---	---
DLG2	1740	broad.mit.edu	37	11	83182671	83182671	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr11:83182671G>C	ENST00000532653.1	-	19	2377	c.2075C>G	c.(2074-2076)cCt>cGt	p.P692R	DLG2_ENST00000376106.3_Missense_Mutation_p.P174R|DLG2_ENST00000418306.2_Missense_Mutation_p.P589R|DLG2_ENST00000376104.2_Missense_Mutation_p.P815R|DLG2_ENST00000543673.1_Missense_Mutation_p.P815R|DLG2_ENST00000537455.1_Missense_Mutation_p.P460R|DLG2_ENST00000531015.1_Missense_Mutation_p.P677R|DLG2_ENST00000524982.1_Missense_Mutation_p.P706R|DLG2_ENST00000280241.8_Missense_Mutation_p.P749R|DLG2_ENST00000330014.6_Missense_Mutation_p.P631R|DLG2_ENST00000426717.2_Missense_Mutation_p.P174R|DLG2_ENST00000398309.2_Missense_Mutation_p.P710R|DLG2_ENST00000404783.3_Missense_Mutation_p.P188R			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	407					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.P749R(1)|p.P815R(1)|p.P589R(1)|p.P710R(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				ACACTTACGAGGCACACAGGA	0.428																																						uc001paj.2																			4	Substitution - Missense(4)		lung(4)	ovary(3)|pancreas(2)|skin(1)	6						c.(2128-2130)CCT>CGT		chapsyn-110 isoform 2							59.0	56.0	57.0					11																	83182671		1836	4085	5921	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:83182671G>C	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.2075C>G	11.37:g.83182671G>C	ENSP00000435849:p.Pro692Arg					DLG2_uc001pai.2_Missense_Mutation_p.P589R|DLG2_uc010rsy.1_Missense_Mutation_p.P659R|DLG2_uc010rsz.1_Missense_Mutation_p.P706R|DLG2_uc010rta.1_Missense_Mutation_p.P692R|DLG2_uc001pak.2_Missense_Mutation_p.P815R|DLG2_uc010rtb.1_Missense_Mutation_p.P677R|DLG2_uc010rsw.1_Missense_Mutation_p.P174R|DLG2_uc010rsx.1_Missense_Mutation_p.P187R	p.P710R	NM_001364	NP_001355	Q15700	DLG2_HUMAN			19	2432	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	710			Guanylate kinase-like.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.2129C>G		.	.	.	.	.	.	.	.	.	.	G	21.6	4.170309	0.78452	.	.	ENSG00000150672	ENST00000398309;ENST00000426717;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000404783;ENST00000330014;ENST00000537455;ENST00000376106;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000457267;ENST00000420775	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.08	5.08	0.68730	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.078909	0.50627	D	0.000102	T	0.79149	0.4397	H	0.95611	3.695	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.997;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.993;0.999;0.992;1.0;0.999;0.988	D	0.85921	0.1446	9	.	.	.	.	18.8341	0.92153	0.0:0.0:1.0:0.0	.	677;692;706;631;188;815;710;589	E9PIW2;B7Z2T4;E9PN83;B7Z264;B5MCC5;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	R	710;174;815;589;815;749;188;631;460;174;706;692;815;677;62;192	ENSP00000381355:P710R;ENSP00000393049:P174R;ENSP00000365272:P815R;ENSP00000402275:P589R;ENSP00000441994:P815R;ENSP00000280241:P749R;ENSP00000385113:P188R;ENSP00000381353:P631R;ENSP00000443248:P460R;ENSP00000365274:P174R;ENSP00000432894:P706R;ENSP00000435849:P692R;ENSP00000433848:P677R;ENSP00000409133:P62R;ENSP00000391017:P192R	.	P	-	2	0	DLG2	82860319	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	9.799000	0.99117	2.510000	0.84645	0.591000	0.81541	CCT		PASS	0.428	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		11	27	11	27	---	---	---	---
DLG2	1740	broad.mit.edu	37	11	83673930	83673930	+	Silent	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr11:83673930G>A	ENST00000532653.1	-	9	1325	c.1023C>T	c.(1021-1023)acC>acT	p.T341T	DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000418306.2_Silent_p.T290T|DLG2_ENST00000376104.2_Silent_p.T446T|DLG2_ENST00000543673.1_Silent_p.T446T|DLG2_ENST00000537455.1_Silent_p.T95T|DLG2_ENST00000398301.2_Silent_p.T380T|DLG2_ENST00000531015.1_Silent_p.T308T|DLG2_ENST00000524982.1_Silent_p.T341T|DLG2_ENST00000280241.8_Silent_p.T380T|DLG2_ENST00000330014.6_Silent_p.T280T|DLG2_ENST00000398309.2_Silent_p.T341T			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.T380T(1)|p.T290T(1)|p.T446T(1)|p.T341T(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TATCTGACCTGGTGTAGTCGT	0.418																																						uc001paj.2																			4	Substitution - coding silent(4)		lung(4)	ovary(3)|pancreas(2)|skin(1)	6						c.(1021-1023)ACC>ACT		chapsyn-110 isoform 2							177.0	167.0	170.0					11																	83673930		1928	4146	6074	SO:0001819	synonymous_variant	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:83673930G>A	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1023C>T	11.37:g.83673930G>A						DLG2_uc001pai.2_Silent_p.T290T|DLG2_uc010rsy.1_Silent_p.T308T|DLG2_uc010rsz.1_Silent_p.T341T|DLG2_uc010rta.1_Silent_p.T341T|DLG2_uc001pak.2_Silent_p.T446T|DLG2_uc010rtb.1_Silent_p.T308T|DLG2_uc001pal.1_Silent_p.T341T|DLG2_uc001pam.1_Silent_p.T380T	p.T341T	NM_001364	NP_001355	Q15700	DLG2_HUMAN			9	1326	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	341					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	ENST00000532653.1	37	c.1023C>T																																																																																					PASS	0.418	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		22	54	22	54	---	---	---	---
HEPHL1	341208	broad.mit.edu	37	11	93800724	93800724	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr11:93800724T>A	ENST00000315765.9	+	5	879	c.871T>A	c.(871-873)Tcc>Acc	p.S291T		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	291	Plastocyanin-like 2.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.S292T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AGAATCTGTGTCCTGGCACCT	0.473																																						uc001pep.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(871-873)TCC>ACC		hephaestin-like 1 precursor							159.0	160.0	159.0					11																	93800724		1937	4125	6062	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93800724T>A	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.871T>A	11.37:g.93800724T>A	ENSP00000313699:p.Ser291Thr					uc001pen.1_RNA	p.S291T	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			5	1028	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	291			Plastocyanin-like 2.|Extracellular (Potential).		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.871T>A	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.843869	0.51164	.	.	ENSG00000181333	ENST00000315765	D	0.99748	-6.62	5.36	5.36	0.76844	Cupredoxin (2);	0.051578	0.85682	D	0.000000	D	0.98779	0.9589	L	0.37561	1.115	0.45515	D	0.998474	P	0.37423	0.594	B	0.40982	0.345	D	0.99952	1.1562	10	0.37606	T	0.19	-10.3317	15.6458	0.77049	0.0:0.0:0.0:1.0	.	291	Q6MZM0	HPHL1_HUMAN	T	291	ENSP00000313699:S291T	ENSP00000313699:S291T	S	+	1	0	HEPHL1	93440372	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.972000	0.56838	2.158000	0.67659	0.459000	0.35465	TCC		PASS	0.473	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		53	98	53	98	---	---	---	---
KIAA1377	57562	broad.mit.edu	37	11	101829038	101829038	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr11:101829038C>A	ENST00000263468.8	+	5	916	c.646C>A	c.(646-648)Cag>Aag	p.Q216K	KIAA1377_ENST00000537689.1_Missense_Mutation_p.Q17K	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	216								p.Q216K(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AAATGTGTTCCAGCTTAAACT	0.338																																						uc001pgm.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|central_nervous_system(1)	4						c.(646-648)CAG>AAG		hypothetical protein LOC57562							132.0	142.0	139.0					11																	101829038		2203	4299	6502	SO:0001583	missense	57562						protein binding	g.chr11:101829038C>A	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.646C>A	11.37:g.101829038C>A	ENSP00000263468:p.Gln216Lys					KIAA1377_uc001pgn.2_Missense_Mutation_p.Q172K|KIAA1377_uc010run.1_Missense_Mutation_p.Q17K|KIAA1377_uc009yxa.1_Missense_Mutation_p.Q17K	p.Q216K	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	5	916	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	216					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.646C>A	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454249	0.63290	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.12039	2.72;2.72	5.68	5.68	0.88126	.	0.105375	0.42548	D	0.000700	T	0.30198	0.0757	M	0.76002	2.32	0.34405	D	0.695677	P	0.51351	0.944	P	0.53146	0.719	T	0.28299	-1.0048	10	0.19147	T	0.46	-1.9133	18.573	0.91144	0.0:1.0:0.0:0.0	.	216	Q9P2H0	K1377_HUMAN	K	216;17	ENSP00000263468:Q216K;ENSP00000443184:Q17K	ENSP00000263468:Q216K	Q	+	1	0	KIAA1377	101334248	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.830000	0.62745	2.678000	0.91216	0.650000	0.86243	CAG		PASS	0.338	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		6	180	6	180	---	---	---	---
OR4D5	219875	broad.mit.edu	37	11	123810587	123810587	+	Silent	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr11:123810587C>T	ENST00000307033.2	+	1	338	c.264C>T	c.(262-264)ggC>ggT	p.G88G		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G88G(2)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGCTCTCAGGCAACCCTACCA	0.473																																						uc001pzk.1																			2	Substitution - coding silent(2)		lung(1)|kidney(1)	ovary(1)	1						c.(262-264)GGC>GGT		olfactory receptor, family 4, subfamily D,							158.0	130.0	140.0					11																	123810587		2202	4299	6501	SO:0001819	synonymous_variant	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810587C>T	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.264C>T	11.37:g.123810587C>T							p.G88G	NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	264	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	88			Extracellular (Potential).		B9EGZ4|Q6IFE6	Silent	SNP	ENST00000307033.2	37	c.264C>T	CCDS31699.1																																																																																				PASS	0.473	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		23	42	23	42	---	---	---	---
OR10G9	219870	broad.mit.edu	37	11	123894342	123894342	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr11:123894342G>T	ENST00000375024.1	+	1	623	c.623G>T	c.(622-624)gGc>gTc	p.G208V		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G208V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTGGCCTCGGGCTGCTTTCTC	0.552																																						uc010sad.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(622-624)GGC>GTC		olfactory receptor, family 10, subfamily G,							245.0	211.0	222.0					11																	123894342		2201	4299	6500	SO:0001583	missense	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123894342G>T	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.623G>T	11.37:g.123894342G>T	ENSP00000364164:p.Gly208Val						p.G208V	NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	623	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	208			Helical; Name=5; (Potential).			Missense_Mutation	SNP	ENST00000375024.1	37	c.623G>T	CCDS31703.1	.	.	.	.	.	.	.	.	.	.	G	0.239	-1.015010	0.02078	.	.	ENSG00000236981	ENST00000375024	T	0.33865	1.39	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.129338	0.35151	N	0.003408	T	0.28665	0.0710	N	0.20807	0.61	0.51012	D	0.999902	B	0.26602	0.154	B	0.41646	0.362	T	0.03630	-1.1018	10	0.05525	T	0.97	.	14.2546	0.66043	0.0:0.0:1.0:0.0	.	208	Q8NGN4	O10G9_HUMAN	V	208	ENSP00000364164:G208V	ENSP00000364164:G208V	G	+	2	0	OR10G9	123399552	0.000000	0.05858	0.985000	0.45067	0.043000	0.13939	-0.076000	0.11412	1.938000	0.56188	0.655000	0.94253	GGC		PASS	0.552	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		25	57	25	57	---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900599	123900599	+	Silent	SNP	T	T	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr11:123900599T>C	ENST00000431524.1	+	1	303	c.270T>C	c.(268-270)gcT>gcC	p.A90A		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A90A(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GTGGCAGGGCTATCTCCTTCC	0.517																																						uc001pzp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(268-270)GCT>GCC		olfactory receptor, family 10, subfamily G,							199.0	174.0	183.0					11																	123900599		2201	4299	6500	SO:0001819	synonymous_variant	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900599T>C	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.270T>C	11.37:g.123900599T>C							p.A90A	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	270	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	90			Extracellular (Potential).		B2RNJ3|Q6IEV2	Silent	SNP	ENST00000431524.1	37	c.270T>C	CCDS31704.1																																																																																				PASS	0.517	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		21	59	21	59	---	---	---	---
ROBO4	54538	broad.mit.edu	37	11	124766101	124766101	+	Silent	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr11:124766101G>A	ENST00000306534.3	-	4	1157	c.672C>T	c.(670-672)tcC>tcT	p.S224S	ROBO4_ENST00000533054.1_Silent_p.S79S|ROBO4_ENST00000526899.1_5'UTR	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	224	Ig-like C2-type 2.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S224S(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TACCCTGGATGGAAACCCGGG	0.602																																						uc001qbg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(670-672)TCC>TCT		roundabout homolog 4, magic roundabout							73.0	74.0	73.0					11																	124766101		2201	4299	6500	SO:0001819	synonymous_variant	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124766101G>A	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.672C>T	11.37:g.124766101G>A						ROBO4_uc010sas.1_Silent_p.S79S|ROBO4_uc001qbh.2_Silent_p.S114S|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank	p.S224S	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	4	812	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	224			Ig-like C2-type 2.		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	ENST00000306534.3	37	c.672C>T	CCDS8455.1																																																																																				PASS	0.602	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		12	33	12	33	---	---	---	---
DYRK4	8798	broad.mit.edu	37	12	4705872	4705872	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr12:4705872C>A	ENST00000540757.2	+	6	697	c.537C>A	c.(535-537)ttC>ttA	p.F179L	DYRK4_ENST00000543431.1_Missense_Mutation_p.F179L|DYRK4_ENST00000010132.5_Missense_Mutation_p.F179L	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	179	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.F581L(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			GCAATCACTTCTGCATCACCT	0.423																																						uc001qmx.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(1)	3						c.(535-537)TTC>TTA		dual-specificity tyrosine-(Y)-phosphorylation							177.0	155.0	163.0					12																	4705872		2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4705872C>A	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.537C>A	12.37:g.4705872C>A	ENSP00000441755:p.Phe179Leu					DYRK4_uc009zeh.1_Missense_Mutation_p.F294L|DYRK4_uc001qmy.1_Missense_Mutation_p.F179L	p.F179L	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		6	697	+			179			Protein kinase.		A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.537C>A	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	C	6.040	0.375666	0.11409	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.61274	0.12;0.12;0.12;0.12	5.47	4.53	0.55603	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.074221	0.56097	N	0.000032	T	0.34135	0.0887	N	0.11870	0.19	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.001;0.002	T	0.21143	-1.0254	10	0.02654	T	1	.	13.7549	0.62930	0.0:0.8462:0.1538:0.0	.	294;179;179	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	L	294;179;179;179	ENSP00000437534:F294L;ENSP00000441755:F179L;ENSP00000010132:F179L;ENSP00000439697:F179L	ENSP00000010132:F179L	F	+	3	2	DYRK4	4576133	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.344000	0.33941	2.570000	0.86706	0.655000	0.94253	TTC		PASS	0.423	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			14	39	14	39	---	---	---	---
AKAP3	10566	broad.mit.edu	37	12	4735746	4735746	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr12:4735746T>A	ENST00000545990.2	-	5	2846	c.2322A>T	c.(2320-2322)caA>caT	p.Q774H	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.Q774H	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	774					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)	p.Q774H(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GAAGGACGGCTTGGAGTTGCT	0.502																																						uc001qnb.3																			2	Substitution - Missense(2)		lung(2)	skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						c.(2320-2322)CAA>CAT		A-kinase anchor protein 3							162.0	148.0	153.0					12																	4735746		2203	4300	6503	SO:0001583	missense	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4735746T>A	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.2322A>T	12.37:g.4735746T>A	ENSP00000440994:p.Gln774His						p.Q774H	NM_006422	NP_006413	O75969	AKAP3_HUMAN			4	2551	-			774					O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	c.2322A>T	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.777958	0.49786	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.12255	2.7;2.7	4.91	1.26	0.21427	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.64402	D	0.000019	T	0.31918	0.0812	M	0.78049	2.395	0.31264	N	0.692507	D	0.89917	1.0	D	0.87578	0.998	T	0.21793	-1.0235	10	0.59425	D	0.04	-17.9851	7.396	0.26936	0.0:0.2979:0.0:0.7021	.	774	O75969	AKAP3_HUMAN	H	774	ENSP00000228850:Q774H;ENSP00000440994:Q774H	ENSP00000228850:Q774H	Q	-	3	2	AKAP3	4606007	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.270000	0.33086	0.367000	0.24454	-0.274000	0.10170	CAA		PASS	0.502	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		17	45	17	45	---	---	---	---
PRICKLE1	144165	broad.mit.edu	37	12	42863376	42863376	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr12:42863376T>A	ENST00000455697.1	-	4	545	c.260A>T	c.(259-261)cAg>cTg	p.Q87L	PRICKLE1_ENST00000345127.3_Missense_Mutation_p.Q87L|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.Q87L|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.Q87L|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.Q87L	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	87	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.Q87L(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		ACTCAAAGACTGGCAATACCG	0.458																																						uc010skv.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(259-261)CAG>CTG		prickle homolog 1							119.0	110.0	113.0					12																	42863376		2203	4300	6503	SO:0001583	missense	144165				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42863376T>A	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.260A>T	12.37:g.42863376T>A	ENSP00000401060:p.Gln87Leu					PRICKLE1_uc001rnl.2_Missense_Mutation_p.Q87L|PRICKLE1_uc010skw.1_Missense_Mutation_p.Q87L|PRICKLE1_uc001rnm.2_Missense_Mutation_p.Q87L|PRICKLE1_uc009zka.2_Missense_Mutation_p.Q83L	p.Q87L	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	4	547	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		87			PET.		Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	c.260A>T	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	T	16.01	3.001523	0.54254	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240;ENST00000552108;ENST00000551050;ENST00000547113	D;D;D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	5.56	5.56	0.83823	PET domain (2);	0.000000	0.85682	D	0.000000	D	0.85457	0.5701	L	0.27053	0.805	0.80722	D	1	P	0.39071	0.658	P	0.48063	0.565	D	0.85280	0.1061	10	0.40728	T	0.16	-2.2491	16.0092	0.80385	0.0:0.0:0.0:1.0	.	87	Q96MT3	PRIC1_HUMAN	L	87	ENSP00000401060:Q87L;ENSP00000398947:Q87L;ENSP00000448359:Q87L;ENSP00000345064:Q87L;ENSP00000449819:Q87L;ENSP00000447870:Q87L;ENSP00000446970:Q87L;ENSP00000446699:Q87L	ENSP00000345064:Q87L	Q	-	2	0	PRICKLE1	41149643	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.218000	0.72224	2.240000	0.73641	0.533000	0.62120	CAG		PASS	0.458	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			19	37	19	37	---	---	---	---
OR8S1	341568	broad.mit.edu	37	12	48921715	48921715	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr12:48921715C>G	ENST00000310194.1	+	2	909	c.909C>G	c.(907-909)gaC>gaG	p.D303E	OR8S1_ENST00000551654.1_3'UTR	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D303E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GCCTCCGGGACAGCAGTCATT	0.502																																						uc010slu.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(907-909)GAC>GAG		olfactory receptor, family 8, subfamily S,							31.0	36.0	34.0					12																	48921715		2203	4300	6503	SO:0001583	missense	341568				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48921715C>G		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.909C>G	12.37:g.48921715C>G	ENSP00000310632:p.Asp303Glu						p.D303E	NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN			2	909	+			303			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000310194.1	37	c.909C>G	CCDS31789.1	.	.	.	.	.	.	.	.	.	.	C	4.540	0.100204	0.08731	.	.	ENSG00000197376	ENST00000310194	T	0.03035	4.07	0.158	0.158	0.14942	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.47623	-0.9103	8	0.02654	T	1	6.5669	.	.	.	.	303	Q8NH09	OR8S1_HUMAN	E	303	ENSP00000310632:D303E	ENSP00000310632:D303E	D	+	3	2	OR8S1	47207982	0.619000	0.27059	0.277000	0.24703	0.259000	0.26198	0.193000	0.17116	0.202000	0.20498	0.205000	0.17691	GAC		PASS	0.502	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1			7	23	7	23	---	---	---	---
OR6C70	390327	broad.mit.edu	37	12	55863538	55863538	+	Missense_Mutation	SNP	G	G	T	rs141132100		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr12:55863538G>T	ENST00000327335.4	-	1	384	c.385C>A	c.(385-387)Cgt>Agt	p.R129S	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R129S(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GACATATAACGCAAAGGTTTG	0.388																																						uc010spn.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(385-387)CGT>AGT		olfactory receptor, family 6, subfamily C,							77.0	78.0	77.0					12																	55863538		2203	4300	6503	SO:0001583	missense	390327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55863538G>T		CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954		"""GPCR / Class A : Olfactory receptors"""	31299	protein-coding gene	gene with protein product							Standard	NM_001005499		Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.385C>A	12.37:g.55863538G>T	ENSP00000329153:p.Arg129Ser						p.R129S	NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN			1	385	-			129			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000327335.4	37	c.385C>A	CCDS31825.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.271246	0.23221	.	.	ENSG00000184954	ENST00000327335	T	0.00801	5.68	4.06	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000065	T	0.02230	0.0069	M	0.78223	2.4	0.24759	N	0.992932	B	0.15141	0.012	B	0.18871	0.023	T	0.19257	-1.0311	10	0.87932	D	0	.	16.3842	0.83495	0.0:0.0:1.0:0.0	.	129	A6NIJ9	O6C70_HUMAN	S	129	ENSP00000329153:R129S	ENSP00000329153:R129S	R	-	1	0	OR6C70	54149805	0.369000	0.25039	0.669000	0.29828	0.025000	0.11179	1.959000	0.40412	2.261000	0.74972	0.655000	0.94253	CGT		PASS	0.388	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411820.1			26	48	26	48	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56568479	56568479	+	Silent	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr12:56568479G>A	ENST00000267064.4	-	16	1538	c.1452C>T	c.(1450-1452)acC>acT	p.T484T	SMARCC2_ENST00000347471.4_Silent_p.T484T|SMARCC2_ENST00000550164.1_Silent_p.T484T|SMARCC2_ENST00000394023.3_Silent_p.T484T|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	484	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.T484T(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGCGGCAGGCGGTAGAGGTAA	0.512																																						uc001skb.2																			2	Substitution - coding silent(2)		lung(2)	lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6						c.(1450-1452)ACC>ACT		SWI/SNF-related matrix-associated							118.0	117.0	118.0					12																	56568479		2203	4300	6503	SO:0001819	synonymous_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56568479G>A	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1452C>T	12.37:g.56568479G>A						SMARCC2_uc001skd.2_Silent_p.T484T|SMARCC2_uc001ska.2_Silent_p.T484T|SMARCC2_uc001skc.2_Silent_p.T484T|SMARCC2_uc010sqf.1_Silent_p.T373T	p.T484T	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		16	1558	-			484			SWIRM.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Silent	SNP	ENST00000267064.4	37	c.1452C>T	CCDS8907.1																																																																																				PASS	0.512	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			24	47	24	47	---	---	---	---
LRIG3	121227	broad.mit.edu	37	12	59271448	59271448	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr12:59271448G>T	ENST00000320743.3	-	15	2556	c.2270C>A	c.(2269-2271)tCa>tAa	p.S757*	LRIG3_ENST00000379141.4_Nonsense_Mutation_p.S697*	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	757	Ig-like C2-type 3.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S757*(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ACTGACATCTGAGTCCACAAT	0.502			T	ROS1	NSCLC																																	uc001sqr.2				Dom	yes		12	12q14.1	121227		leucine-rich repeats and immunoglobulin-like domains 3			E					1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(1)	4						c.(2269-2271)TCA>TAA		leucine-rich repeats and immunoglobulin-like							182.0	170.0	174.0					12																	59271448		2203	4300	6503	SO:0001587	stop_gained	121227					integral to membrane		g.chr12:59271448G>T	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2270C>A	12.37:g.59271448G>T	ENSP00000326759:p.Ser757*					LRIG3_uc009zqh.2_Nonsense_Mutation_p.S697*|LRIG3_uc010ssh.1_RNA	p.S757*	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		15	2516	-			757			Ig-like C2-type 3.		Q6UXL7|Q8NC72	Nonsense_Mutation	SNP	ENST00000320743.3	37	c.2270C>A	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	G	38	7.059718	0.98036	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	.	.	.	5.59	4.7	0.59300	.	0.260052	0.20457	N	0.091970	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7549	0.69557	0.0695:0.0:0.9305:0.0	.	.	.	.	X	697;757	.	.	S	-	2	0	LRIG3	57557715	1.000000	0.71417	0.774000	0.31636	0.408000	0.30992	6.562000	0.73960	1.499000	0.48617	0.655000	0.94253	TCA		PASS	0.502	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		6	101	6	101	---	---	---	---
KCNC2	3747	broad.mit.edu	37	12	75444506	75444506	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr12:75444506C>A	ENST00000549446.1	-	3	1959	c.1279G>T	c.(1279-1281)Ggg>Tgg	p.G427W	KCNC2_ENST00000341669.3_Missense_Mutation_p.G427W|KCNC2_ENST00000540018.1_Missense_Mutation_p.G427W|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000298972.1_Missense_Mutation_p.G427W|KCNC2_ENST00000393288.2_Missense_Mutation_p.G427W|KCNC2_ENST00000350228.2_Missense_Mutation_p.G427W|KCNC2_ENST00000548513.1_Missense_Mutation_p.G427W|KCNC2_ENST00000550433.1_Missense_Mutation_p.G427W	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	427					action potential (GO:0001508)|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)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.G427W(2)|p.G427R(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	CACCAGAACCCAATGGGAATG	0.512																																						uc001sxg.1																			4	Substitution - Missense(4)		lung(4)	breast(2)|pancreas(2)|skin(1)|lung(1)	6						c.(1279-1281)GGG>TGG		Shaw-related voltage-gated potassium channel							73.0	63.0	66.0					12																	75444506		2203	4300	6503	SO:0001583	missense	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75444506C>A	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1279G>T	12.37:g.75444506C>A	ENSP00000449253:p.Gly427Trp					KCNC2_uc009zry.2_Missense_Mutation_p.G427W|KCNC2_uc001sxe.2_Missense_Mutation_p.G427W|KCNC2_uc001sxf.2_Missense_Mutation_p.G427W|KCNC2_uc010stw.1_Missense_Mutation_p.G427W	p.G427W	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN			3	1823	-			427					B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	c.1279G>T	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200150	0.79015	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.97731	-4.51;-4.51;-4.51;-4.51;-4.51;-4.51;-4.51;-4.51	6.06	6.06	0.98353	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99199	0.9722	H	0.94771	3.58	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	0.91635	0.999;0.999;0.998;0.999;0.994	D	0.99023	1.0818	10	0.87932	D	0	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	427;427;427;427;427	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	W	427	ENSP00000448301:G427W;ENSP00000449941:G427W;ENSP00000449253:G427W;ENSP00000340121:G427W;ENSP00000298972:G427W;ENSP00000319877:G427W;ENSP00000438423:G427W;ENSP00000376966:G427W	ENSP00000298972:G427W	G	-	1	0	KCNC2	73730773	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.792000	0.85828	2.880000	0.98712	0.650000	0.86243	GGG		PASS	0.512	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		12	23	12	23	---	---	---	---
MYBPC1	4604	broad.mit.edu	37	12	102067366	102067366	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr12:102067366C>A	ENST00000550270.1	+	24	2754	c.2754C>A	c.(2752-2754)ttC>ttA	p.F918L	MYBPC1_ENST00000551300.1_Missense_Mutation_p.F801L|MYBPC1_ENST00000536007.1_Missense_Mutation_p.F881L|MYBPC1_ENST00000541119.1_Missense_Mutation_p.F888L|MYBPC1_ENST00000547405.1_Missense_Mutation_p.F874L|MYBPC1_ENST00000547509.1_Missense_Mutation_p.F886L|MYBPC1_ENST00000549145.1_Missense_Mutation_p.F931L|MYBPC1_ENST00000360610.2_Missense_Mutation_p.F918L|MYBPC1_ENST00000553190.1_Missense_Mutation_p.F900L|MYBPC1_ENST00000361466.2_Missense_Mutation_p.F925L|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000452455.2_Missense_Mutation_p.F918L|MYBPC1_ENST00000361685.2_Missense_Mutation_p.F925L|MYBPC1_ENST00000392934.3_Missense_Mutation_p.F887L|MYBPC1_ENST00000441232.1_Missense_Mutation_p.F918L|MYBPC1_ENST00000545503.2_Missense_Mutation_p.F900L			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	918	Ig-like C2-type 6.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.F925L(1)|p.F918L(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TGGACAAATTCGTGGAGACCG	0.418																																						uc001tii.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|liver(1)|skin(1)	4						c.(2752-2754)TTC>TTA		myosin binding protein C, slow type isoform 3							163.0	167.0	165.0					12																	102067366		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102067366C>A		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.2754C>A	12.37:g.102067366C>A	ENSP00000449702:p.Phe918Leu					MYBPC1_uc001tig.2_Missense_Mutation_p.F925L|MYBPC1_uc010svq.1_Missense_Mutation_p.F887L|MYBPC1_uc001tih.2_Missense_Mutation_p.F925L|MYBPC1_uc001tij.2_Missense_Mutation_p.F900L|MYBPC1_uc010svr.1_Missense_Mutation_p.F900L|MYBPC1_uc010svs.1_Missense_Mutation_p.F918L|MYBPC1_uc010svt.1_Missense_Mutation_p.F888L|MYBPC1_uc010svu.1_Missense_Mutation_p.F881L|MYBPC1_uc001tik.2_Missense_Mutation_p.F874L|MYBPC1_uc001til.2_5'UTR|MYBPC1_uc001tim.2_5'UTR	p.F918L	NM_206820	NP_996556	Q00872	MYPC1_HUMAN			24	2856	+			918			Ig-like C2-type 6.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.2754C>A	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	C	4.802	0.149126	0.09185	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.76	-8.18	0.01053	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.992091	0.08180	N	0.985635	T	0.28001	0.0690	N	0.00368	-1.59	0.09310	N	1	B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B	0.12837	0.008;0.003;0.002;0.004;0.001;0.003;0.002;0.004;0.001;0.001	T	0.45877	-0.9231	10	0.36615	T	0.2	.	13.7046	0.62631	0.0:0.3217:0.0855:0.5928	.	881;888;918;900;887;874;900;918;925;925	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	L	874;918;918;918;887;886;925;931;900;900;881;888;925;801;918	ENSP00000448175:F874L;ENSP00000400908:F918L;ENSP00000388989:F918L;ENSP00000353822:F918L;ENSP00000376665:F887L;ENSP00000447362:F886L;ENSP00000354845:F925L;ENSP00000447660:F931L;ENSP00000447900:F900L;ENSP00000440034:F900L;ENSP00000446128:F881L;ENSP00000442847:F888L;ENSP00000354849:F925L;ENSP00000447116:F801L;ENSP00000449702:F918L	ENSP00000353822:F918L	F	+	3	2	MYBPC1	100591497	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.015000	0.01447	-1.710000	0.01397	-2.299000	0.00261	TTC		PASS	0.418	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			5	169	5	169	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124305213	124305213	+	Missense_Mutation	SNP	G	G	T	rs201579024		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr12:124305213G>T	ENST00000409039.3	+	23	3758	c.3733G>T	c.(3733-3735)Gat>Tat	p.D1245Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1245	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D1245Y(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAACTTTTCGATCTTCCTAT	0.423																																						uc001uft.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(3733-3735)GAT>TAT		dynein, axonemal, heavy chain 10							134.0	136.0	135.0					12																	124305213		1919	4132	6051	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124305213G>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3733G>T	12.37:g.124305213G>T	ENSP00000386770:p.Asp1245Tyr						p.D1245Y	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	23	3758	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1245			TPR 1.|Stem (By similarity).|Potential.		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.3733G>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	14.00	2.403727	0.42613	.	.	ENSG00000197653	ENST00000409039	T	0.23754	1.89	5.04	5.04	0.67666	.	.	.	.	.	T	0.54287	0.1849	M	0.81942	2.565	0.53005	D	0.999962	D	0.76494	0.999	D	0.68621	0.959	T	0.60791	-0.7193	9	0.66056	D	0.02	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	1245	Q8IVF4	DYH10_HUMAN	Y	1245	ENSP00000386770:D1245Y	ENSP00000386770:D1245Y	D	+	1	0	DNAH10	122871166	1.000000	0.71417	0.054000	0.19295	0.045000	0.14185	7.790000	0.85794	2.328000	0.79073	0.555000	0.69702	GAT		PASS	0.423	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			5	123	5	123	---	---	---	---
DHX37	57647	broad.mit.edu	37	12	125435086	125435086	+	Silent	SNP	G	G	A	rs557182043	byFrequency	TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr12:125435086G>A	ENST00000308736.2	-	23	3092	c.2994C>T	c.(2992-2994)agC>agT	p.S998S	DHX37_ENST00000544745.1_Silent_p.S785S	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	998							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.S998S(1)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGACCTCCACGCTAGAGACGC	0.701													G|||	6	0.00119808	0.0	0.0	5008	,	,		14395	0.0		0.0	False		,,,				2504	0.0061					uc001ugy.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2992-2994)AGC>AGT		DEAH (Asp-Glu-Ala-His) box polypeptide 37							17.0	23.0	21.0					12																	125435086		2192	4288	6480	SO:0001819	synonymous_variant	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125435086G>A	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.2994C>T	12.37:g.125435086G>A						DHX37_uc001ugz.1_Silent_p.S85S	p.S998S	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	23	3093	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		998					Q9BUI7|Q9P211	Silent	SNP	ENST00000308736.2	37	c.2994C>T	CCDS9261.1																																																																																				PASS	0.701	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		5	9	5	9	---	---	---	---
PROSER1	80209	broad.mit.edu	37	13	39600451	39600451	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr13:39600451G>T	ENST00000352251.3	-	6	1276	c.443C>A	c.(442-444)cCc>cAc	p.P148H	PROSER1_ENST00000484434.3_5'Flank|PROSER1_ENST00000350125.3_Missense_Mutation_p.P126H	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	148								p.P148H(1)									TCTTCCTTTGGGATATGGATT	0.408																																						uc001uwy.2																			1	Substitution - Missense(1)	p.P148P(1)	lung(1)	ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5						c.(442-444)CCC>CAC		hypothetical protein LOC80209 isoform 1							135.0	140.0	138.0					13																	39600451		2203	4300	6503	SO:0001583	missense	80209							g.chr13:39600451G>T	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.443C>A	13.37:g.39600451G>T	ENSP00000332034:p.Pro148His					C13orf23_uc001uwz.2_Missense_Mutation_p.P126H	p.P148H	NM_025138	NP_079414	Q86XN7	CM023_HUMAN		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)	6	1316	-		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)	148					A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	37	c.443C>A	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	G	24.8	4.576209	0.86645	.	.	ENSG00000120685	ENST00000352251;ENST00000350125;ENST00000436678	T;T	0.67171	-0.16;-0.25	5.74	5.74	0.90152	.	.	.	.	.	T	0.71821	0.3385	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.69423	-0.5149	8	.	.	.	-17.074	17.4265	0.87527	0.0:0.0:1.0:0.0	.	126;148	A6NJ97;Q86XN7	.;PRSR1_HUMAN	H	148;126;127	ENSP00000332034:P148H;ENSP00000339123:P126H	.	P	-	2	0	PROSER1	38498451	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.912000	0.92726	2.720000	0.93068	0.650000	0.86243	CCC		PASS	0.408	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		5	57	5	57	---	---	---	---
KLHL1	57626	broad.mit.edu	37	13	70681669	70681669	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr13:70681669G>C	ENST00000377844.4	-	1	922	c.163C>G	c.(163-165)Cgc>Ggc	p.R55G	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000424524.1_RNA|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	55	Ser-rich.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.R55G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TTGAGCAGGCGACTCTGGCTG	0.627																																						uc001vip.2																			1	Substitution - Missense(1)		lung(1)		0						c.(163-165)CGC>GGC		kelch-like 1 protein							55.0	65.0	62.0					13																	70681669		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70681669G>C	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.163C>G	13.37:g.70681669G>C	ENSP00000367075:p.Arg55Gly					KLHL1_uc010thm.1_Missense_Mutation_p.R55G|ATXN8OS_uc010aej.1_RNA	p.R55G	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	1	957	-		Breast(118;0.000162)	55			Ser-rich.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.163C>G	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450274	0.43531	.	.	ENSG00000150361	ENST00000377844	T	0.74947	-0.89	5.41	5.41	0.78517	.	2.426560	0.01648	N	0.024427	T	0.81602	0.4857	N	0.20530	0.585	0.80722	D	1	B;D	0.60160	0.003;0.987	B;D	0.65010	0.002;0.931	T	0.67534	-0.5646	10	0.52906	T	0.07	.	17.4447	0.87574	0.0:0.0:1.0:0.0	.	55;55	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	G	55	ENSP00000367075:R55G	ENSP00000367075:R55G	R	-	1	0	KLHL1	69579670	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	6.492000	0.73654	2.549000	0.85964	0.650000	0.86243	CGC		PASS	0.627	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		9	28	9	28	---	---	---	---
PIBF1	10464	broad.mit.edu	37	13	73372080	73372080	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr13:73372080G>T	ENST00000326291.6	+	5	926	c.588G>T	c.(586-588)aaG>aaT	p.K196N		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	196						centrosome (GO:0005813)		p.K196N(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CATTAAGAAAGGAAATCTGTG	0.299																																						uc001vjc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(586-588)AAG>AAT		progesterone-induced blocking factor 1							93.0	97.0	96.0					13																	73372080		2203	4300	6503	SO:0001583	missense	10464					centrosome		g.chr13:73372080G>T	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.588G>T	13.37:g.73372080G>T	ENSP00000317144:p.Lys196Asn					PIBF1_uc001vja.1_Missense_Mutation_p.K196N|PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Missense_Mutation_p.K196N|PIBF1_uc010aep.2_Intron	p.K196N	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	5	893	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	196					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	ENST00000326291.6	37	c.588G>T	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	G	9.984	1.229062	0.22542	.	.	ENSG00000083535	ENST00000326291;ENST00000538949	T	0.06608	3.28	5.16	3.14	0.36123	.	0.523932	0.23213	N	0.050659	T	0.04272	0.0118	L	0.36672	1.1	0.35548	D	0.803651	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.003	T	0.30592	-0.9973	10	0.18710	T	0.47	-3.8656	2.4297	0.04468	0.2742:0.0:0.3165:0.4093	.	196;196	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	N	196	ENSP00000317144:K196N	ENSP00000317144:K196N	K	+	3	2	PIBF1	72270081	0.938000	0.31826	1.000000	0.80357	0.956000	0.61745	0.185000	0.16958	1.190000	0.43042	0.650000	0.86243	AAG		PASS	0.299	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		6	155	6	155	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88330288	88330288	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr13:88330288G>T	ENST00000325089.6	+	2	2864	c.2645G>T	c.(2644-2646)tGc>tTc	p.C882F	SLITRK5_ENST00000400028.3_Missense_Mutation_p.C641F	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	882					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.C882F(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AAATTCCCGTGCAGCCCCGCT	0.602																																						uc001vln.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(2644-2646)TGC>TTC		SLIT and NTRK-like family, member 5 precursor							50.0	54.0	53.0					13																	88330288		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88330288G>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2645G>T	13.37:g.88330288G>T	ENSP00000366283:p.Cys882Phe					SLITRK5_uc010tic.1_Missense_Mutation_p.C641F	p.C882F	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	2864	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		882			Cytoplasmic (Potential).		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.2645G>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.704407	0.30232	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.60040	0.22;0.57	5.57	5.57	0.84162	.	0.208574	0.38164	N	0.001781	T	0.58538	0.2129	L	0.46157	1.445	0.39824	D	0.972888	D;B	0.60575	0.988;0.001	P;B	0.47981	0.563;0.002	T	0.59311	-0.7478	9	.	.	.	-17.2143	17.0515	0.86520	0.0:0.0:1.0:0.0	.	641;882	B4DSH5;O94991	.;SLIK5_HUMAN	F	882;641	ENSP00000366283:C882F;ENSP00000442244:C641F	.	C	+	2	0	SLITRK5	87128289	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.649000	0.61433	2.618000	0.88619	0.561000	0.74099	TGC		PASS	0.602	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			11	42	11	42	---	---	---	---
MYO16	23026	broad.mit.edu	37	13	109459146	109459146	+	Silent	SNP	T	T	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr13:109459146T>C	ENST00000357550.2	+	6	836	c.795T>C	c.(793-795)taT>taC	p.Y265Y	MYO16_ENST00000251041.5_Silent_p.Y265Y|MYO16_ENST00000356711.2_Silent_p.Y265Y	NM_001198950.1	NP_001185879.1			myosin XVI									p.Y265Y(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CAGCCAAATATGGCCAGGTAG	0.353																																						uc001vqt.1																			1	Substitution - coding silent(1)	p.Y265H(1)	lung(1)	ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(793-795)TAT>TAC		myosin heavy chain Myr 8							97.0	90.0	93.0					13																	109459146		2203	4300	6503	SO:0001819	synonymous_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109459146T>C		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.795T>C	13.37:g.109459146T>C						MYO16_uc010agk.1_Silent_p.Y287Y|MYO16_uc001vqu.1_Silent_p.Y65Y	p.Y265Y	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		7	921	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		265			ANK 7.			Silent	SNP	ENST00000357550.2	37	c.795T>C	CCDS32008.1																																																																																				PASS	0.353	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		10	27	10	27	---	---	---	---
COL4A1	1282	broad.mit.edu	37	13	110819570	110819570	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr13:110819570C>T	ENST00000375820.4	-	44	4005	c.3884G>A	c.(3883-3885)gGt>gAt	p.G1295D		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1295	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)	p.G938D(1)|p.G1295D(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TGGAGAGCCACCAATACCCTA	0.507																																						uc001vqw.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(3883-3885)GGT>GAT		alpha 1 type IV collagen preproprotein							149.0	143.0	145.0					13																	110819570		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110819570C>T	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.3884G>A	13.37:g.110819570C>T	ENSP00000364979:p.Gly1295Asp					COL4A1_uc010agl.2_Intron	p.G1295D	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		44	4006	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	1295			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.3884G>A	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200364	0.58126	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.94232	-3.38	5.28	5.28	0.74379	.	0.362331	0.27306	N	0.019961	D	0.85754	0.5770	N	0.00652	-1.29	0.80722	D	1	D	0.71674	0.998	D	0.66979	0.948	T	0.83001	-0.0177	10	0.11794	T	0.64	.	9.609	0.39652	0.1334:0.6097:0.2569:0.0	.	1295	P02462	CO4A1_HUMAN	D	938;1295;944	ENSP00000364979:G1295D	ENSP00000364973:G938D	G	-	2	0	COL4A1	109617571	0.011000	0.17503	0.980000	0.43619	0.948000	0.59901	1.683000	0.37638	2.465000	0.83290	0.655000	0.94253	GGT		PASS	0.507	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			37	94	37	94	---	---	---	---
COL4A2	1284	broad.mit.edu	37	13	111077142	111077142	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr13:111077142C>A	ENST00000360467.5	+	5	548	c.242C>A	c.(241-243)cCg>cAg	p.P81Q		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	81					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.P81Q(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CAAGGATTCCCGGGACTGCAG	0.592																																						uc001vqx.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|central_nervous_system(2)|ovary(1)	6						c.(241-243)CCG>CAG		alpha 2 type IV collagen preproprotein							80.0	89.0	86.0					13																	111077142		1908	4108	6016	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111077142C>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.242C>A	13.37:g.111077142C>A	ENSP00000353654:p.Pro81Gln						p.P81Q	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		5	531	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	81					Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.242C>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.956651	0.34565	.	.	ENSG00000134871	ENST00000400163;ENST00000360467;ENST00000257309	D;D	0.96913	-4.17;-2.9	5.08	5.08	0.68730	.	0.129042	0.35207	N	0.003377	D	0.96087	0.8725	L	0.28014	0.82	0.41321	D	0.987175	D	0.71674	0.998	D	0.68943	0.961	D	0.94737	0.7915	10	0.20046	T	0.44	.	18.5643	0.91112	0.0:1.0:0.0:0.0	.	81	P08572	CO4A2_HUMAN	Q	81	ENSP00000383027:P81Q;ENSP00000353654:P81Q	ENSP00000257309:P81Q	P	+	2	0	COL4A2	109875143	0.992000	0.36948	1.000000	0.80357	0.701000	0.40568	2.298000	0.43602	2.395000	0.81488	0.650000	0.86243	CCG		PASS	0.592	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		21	31	21	31	---	---	---	---
TFDP1	7027	broad.mit.edu	37	13	114290914	114290914	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr13:114290914G>A	ENST00000375370.5	+	10	1117	c.905G>A	c.(904-906)cGg>cAg	p.R302Q	TFDP1_ENST00000544902.1_Missense_Mutation_p.R207Q|TFDP1_ENST00000538138.1_Missense_Mutation_p.R207Q	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	302	DCB2.|Enhances binding of RB protein to E2F.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R302Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			GTGCTGAAGCGGATGGGCATG	0.507										TSP Lung(29;0.18)																												uc001vtw.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|skin(1)	7						c.(904-906)CGG>CAG		transcription factor Dp-1							81.0	82.0	82.0					13																	114290914		2203	4300	6503	SO:0001583	missense	7027				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr13:114290914G>A	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.905G>A	13.37:g.114290914G>A	ENSP00000364519:p.Arg302Gln	TSP Lung(29;0.18)				TFDP1_uc010tkd.1_Missense_Mutation_p.R207Q|TFDP1_uc010tke.1_Missense_Mutation_p.R207Q|TFDP1_uc001vty.3_Missense_Mutation_p.R302Q|TFDP1_uc001vtx.2_Missense_Mutation_p.R182Q	p.R302Q	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	all cancers(43;0.0576)		10	1117	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	302			DCB2.|Enhances binding of RB protein to E2F.		B4DLQ9|Q5JSB4|Q8IZL5	Missense_Mutation	SNP	ENST00000375370.5	37	c.905G>A	CCDS9538.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923001	0.73213	.	.	ENSG00000198176	ENST00000538138;ENST00000375370;ENST00000544902	T;T;T	0.47528	0.84;1.78;0.88	4.57	4.57	0.56435	Transcription factor DP, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.42404	0.1201	L	0.54965	1.715	0.80722	D	1	P;B;P;B	0.48503	0.55;0.204;0.911;0.114	B;B;B;B	0.35607	0.055;0.03;0.206;0.011	T	0.52881	-0.8516	10	0.52906	T	0.07	.	17.3363	0.87282	0.0:0.0:1.0:0.0	.	207;207;207;302	F5H452;B4DLQ9;B7Z569;Q14186	.;.;.;TFDP1_HUMAN	Q	207;302;207	ENSP00000443878:R207Q;ENSP00000364519:R302Q;ENSP00000438450:R207Q	ENSP00000364519:R302Q	R	+	2	0	TFDP1	113338915	1.000000	0.71417	0.983000	0.44433	0.936000	0.57629	8.857000	0.92250	2.074000	0.62210	0.491000	0.48974	CGG		PASS	0.507	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111		16	64	16	64	---	---	---	---
OR4N2	390429	broad.mit.edu	37	14	20295919	20295919	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr14:20295919G>C	ENST00000315947.1	+	1	312	c.312G>C	c.(310-312)ttG>ttC	p.L104F	OR4N2_ENST00000568211.1_Missense_Mutation_p.L104F	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L104F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTTTTTCTTGCACTTCCTTG	0.522																																						uc010tkv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(310-312)TTG>TTC		olfactory receptor, family 4, subfamily N,							109.0	124.0	119.0					14																	20295919		2203	4298	6501	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20295919G>C		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.312G>C	14.37:g.20295919G>C	ENSP00000319601:p.Leu104Phe						p.L104F	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	312	+	all_cancers(95;0.00108)		104			Helical; Name=3; (Potential).		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.312G>C	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	6.031	0.374056	0.11409	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.00495	6.99;6.99	4.53	2.64	0.31445	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39834	N	0.001255	T	0.00178	0.0005	N	0.01081	-1.03	0.24055	N	0.996035	P	0.51653	0.947	P	0.44518	0.452	T	0.45920	-0.9228	10	0.02654	T	1	-11.8449	6.891	0.24230	0.1712:0.0:0.6879:0.1409	.	104	Q8NGD1	OR4N2_HUMAN	F	104	ENSP00000452022:L104F;ENSP00000319601:L104F	ENSP00000319601:L104F	L	+	3	2	OR4N2	19365759	0.000000	0.05858	0.998000	0.56505	0.836000	0.47400	-0.592000	0.05747	0.231000	0.21079	-1.094000	0.02160	TTG		PASS	0.522	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			18	89	18	89	---	---	---	---
OR4K5	79317	broad.mit.edu	37	14	20389170	20389170	+	Silent	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr14:20389170C>A	ENST00000315915.4	+	1	430	c.405C>A	c.(403-405)atC>atA	p.I135I		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I135I(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGTGGTCATCATGAGCCGAA	0.443																																						uc010tkw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(403-405)ATC>ATA		olfactory receptor, family 4, subfamily K,							231.0	228.0	229.0					14																	20389170		2203	4300	6503	SO:0001819	synonymous_variant	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389170C>A	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.405C>A	14.37:g.20389170C>A							p.I135I	NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	405	+	all_cancers(95;0.00108)		135			Cytoplasmic (Potential).		Q6IFA7	Silent	SNP	ENST00000315915.4	37	c.405C>A	CCDS32024.1																																																																																				PASS	0.443	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		31	148	31	148	---	---	---	---
FSCB	84075	broad.mit.edu	37	14	44975852	44975852	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr14:44975852C>A	ENST00000340446.4	-	1	630	c.339G>T	c.(337-339)caG>caT	p.Q113H	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	113						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.Q113H(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTTCTACATCCTGAACACTCT	0.428																																						uc001wvn.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(337-339)CAG>CAT		fibrous sheath CABYR binding protein							189.0	192.0	191.0					14																	44975852		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975852C>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.339G>T	14.37:g.44975852C>A	ENSP00000344579:p.Gln113His						p.Q113H	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	648	-			113					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.339G>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	5.931	0.355742	0.11239	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.24908	1.83	4.74	-6.66	0.01789	.	.	.	.	.	T	0.13415	0.0325	L	0.33485	1.01	0.09310	N	1	B	0.14438	0.01	B	0.18871	0.023	T	0.28870	-1.0030	9	0.37606	T	0.19	4.6577	2.265	0.04077	0.5325:0.1692:0.1:0.1982	.	113	Q5H9T9	FSCB_HUMAN	H	113	ENSP00000344579:Q113H	ENSP00000344579:Q113H	Q	-	3	2	FSCB	44045602	0.000000	0.05858	0.001000	0.08648	0.730000	0.41778	-2.551000	0.00928	-1.448000	0.01941	0.561000	0.74099	CAG		PASS	0.428	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		46	79	46	79	---	---	---	---
GPR65	8477	broad.mit.edu	37	14	88477826	88477826	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr14:88477826A>T	ENST00000267549.3	+	2	1193	c.635A>T	c.(634-636)cAc>cTc	p.H212L	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	212					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.H212L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						GCTGTGCGGCACAATAAAGCC	0.428																																						uc001xvv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(634-636)CAC>CTC		G protein-coupled receptor 65							58.0	58.0	58.0					14																	88477826		2203	4300	6503	SO:0001583	missense	8477				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:88477826A>T	U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.635A>T	14.37:g.88477826A>T	ENSP00000267549:p.His212Leu						p.H212L	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN			2	1165	+			212			Cytoplasmic (Potential).		O75819	Missense_Mutation	SNP	ENST00000267549.3	37	c.635A>T	CCDS9879.1	.	.	.	.	.	.	.	.	.	.	A	5.717	0.316744	0.10845	.	.	ENSG00000140030	ENST00000267549	T	0.36520	1.25	6.16	2.65	0.31530	GPCR, rhodopsin-like superfamily (1);	0.944688	0.08843	N	0.885551	T	0.28466	0.0704	L	0.35723	1.085	0.09310	N	1	B	0.21821	0.061	B	0.22152	0.038	T	0.28902	-1.0029	10	0.52906	T	0.07	.	5.9362	0.19167	0.6089:0.1279:0.2631:0.0	.	212	Q8IYL9	PSYR_HUMAN	L	212	ENSP00000267549:H212L	ENSP00000267549:H212L	H	+	2	0	GPR65	87547579	0.000000	0.05858	0.053000	0.19242	0.680000	0.39746	-0.131000	0.10482	0.580000	0.29522	0.528000	0.53228	CAC		PASS	0.428	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4			22	29	22	29	---	---	---	---
SERPINA3	12	broad.mit.edu	37	14	95085702	95085702	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr14:95085702G>A	ENST00000467132.1	+	3	1962	c.814G>A	c.(814-816)Gcc>Acc	p.A272T	RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Missense_Mutation_p.A272T|SERPINA3_ENST00000482740.1_Missense_Mutation_p.A54T|SERPINA3_ENST00000393080.4_Missense_Mutation_p.A272T			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	272					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A272T(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CACAGGCAATGCCAGCGCACT	0.547																																						uc001ydp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6						c.(814-816)GCC>ACC		serpin peptidase inhibitor, clade A, member 3							107.0	82.0	90.0					14																	95085702		2203	4300	6503	SO:0001583	missense	12				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	g.chr14:95085702G>A	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.814G>A	14.37:g.95085702G>A	ENSP00000450540:p.Ala272Thr					SERPINA3_uc001ydo.3_Missense_Mutation_p.A297T|SERPINA3_uc001ydr.2_Intron|SERPINA3_uc001ydq.2_Missense_Mutation_p.A272T|SERPINA3_uc001yds.2_Missense_Mutation_p.A272T|SERPINA3_uc010avg.2_Missense_Mutation_p.A272T	p.A272T	NM_001085	NP_001076	P01011	AACT_HUMAN		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	3	893	+		all_cancers(154;0.0525)|all_epithelial(191;0.179)	272					B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	c.814G>A	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667941	0.47677	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132;ENST00000482740	D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82	4.66	3.77	0.43336	Serpin domain (3);	0.265007	0.31507	N	0.007532	D	0.83367	0.5239	L	0.41124	1.26	0.36221	D	0.851962	P;P	0.49635	0.926;0.474	P;B	0.50136	0.632;0.09	D	0.86880	0.2041	10	0.62326	D	0.03	.	11.5625	0.50785	0.0858:0.0:0.9142:0.0	.	272;297	P01011;G3V5I3	AACT_HUMAN;.	T	297;272;272;272;272;54	ENSP00000452367:A297T;ENSP00000376793:A272T;ENSP00000376795:A272T;ENSP00000450540:A272T;ENSP00000451119:A54T	ENSP00000376793:A272T	A	+	1	0	SERPINA3	94155455	0.428000	0.25522	0.444000	0.26895	0.064000	0.16182	3.871000	0.56077	1.180000	0.42898	0.556000	0.70494	GCC		PASS	0.547	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085		11	15	11	15	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102506598	102506598	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr14:102506598C>A	ENST00000360184.4	+	63	11880	c.11716C>A	c.(11716-11718)Cag>Aag	p.Q3906K	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3906					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.Q3906K(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGCAGAATTCCAGCACTTCTT	0.562																																						uc001yks.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(11716-11718)CAG>AAG		cytoplasmic dynein 1 heavy chain 1							106.0	112.0	110.0					14																	102506598		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102506598C>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.11716C>A	14.37:g.102506598C>A	ENSP00000348965:p.Gln3906Lys						p.Q3906K	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			63	11880	+			3906					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.11716C>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996546	0.74818	.	.	ENSG00000197102	ENST00000360184	T	0.51071	0.72	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.47637	0.1456	L	0.50333	1.59	0.80722	D	1	B	0.22080	0.064	B	0.18263	0.021	T	0.34030	-0.9845	10	0.48119	T	0.1	.	20.0893	0.97812	0.0:1.0:0.0:0.0	.	3906	Q14204	DYHC1_HUMAN	K	3906	ENSP00000348965:Q3906K	ENSP00000348965:Q3906K	Q	+	1	0	DYNC1H1	101576351	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.761000	0.94854	0.655000	0.94253	CAG		PASS	0.562	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		5	70	5	70	---	---	---	---
CDC42BPB	9578	broad.mit.edu	37	14	103416919	103416919	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr14:103416919C>A	ENST00000361246.2	-	25	3481	c.3193G>T	c.(3193-3195)Gtg>Ttg	p.V1065L		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)									p.V1065L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTGCAGGACACGTGGCAAGCA	0.582																																						uc001ymi.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11						c.(3193-3195)GTG>TTG		CDC42-binding protein kinase beta							58.0	47.0	51.0					14																	103416919		2202	4300	6502	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103416919C>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.3193G>T	14.37:g.103416919C>A	ENSP00000355237:p.Val1065Leu					CDC42BPB_uc001ymj.1_Missense_Mutation_p.V167L	p.V1065L	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	25	3425	-		Melanoma(154;0.155)	1065			Phorbol-ester/DAG-type.			Missense_Mutation	SNP	ENST00000361246.2	37	c.3193G>T	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938488	0.52972	.	.	ENSG00000198752	ENST00000361246;ENST00000541396	D	0.92858	-3.12	5.52	3.7	0.42460	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.183328	0.47852	D	0.000219	D	0.91175	0.7220	L	0.49455	1.56	0.58432	D	0.999999	P;B	0.40638	0.725;0.231	P;B	0.47015	0.534;0.306	D	0.89558	0.3804	10	0.49607	T	0.09	.	12.1757	0.54184	0.0:0.8609:0.0:0.1391	.	1065;1065	A9JR72;Q9Y5S2	.;MRCKB_HUMAN	L	1065;176	ENSP00000355237:V1065L	ENSP00000355237:V1065L	V	-	1	0	CDC42BPB	102486672	1.000000	0.71417	0.007000	0.13788	0.548000	0.35241	4.055000	0.57441	0.813000	0.34350	0.561000	0.74099	GTG		PASS	0.582	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		4	4	4	4	---	---	---	---
GREM1	26585	broad.mit.edu	37	15	33023383	33023383	+	Silent	SNP	T	T	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr15:33023383T>A	ENST00000300177.4	+	2	681	c.492T>A	c.(490-492)ccT>ccA	p.P164P	GREM1_ENST00000560677.1_3'UTR|GREM1_ENST00000322805.4_Silent_p.P123P|GREM1_ENST00000560830.1_Silent_p.P123P	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN	gremlin 1, DAN family BMP antagonist	164	CTCK.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell morphogenesis (GO:0000902)|collagen fibril organization (GO:0030199)|determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone mineralization (GO:0030502)|negative regulation of bone mineralization involved in bone maturation (GO:1900158)|negative regulation of bone remodeling (GO:0046851)|negative regulation of bone trabecula formation (GO:1900155)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of receptor activity (GO:2000273)|positive regulation of receptor internalization (GO:0002092)|positive regulation of telomerase activity (GO:0051973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|regulation of epithelial to mesenchymal transition (GO:0010717)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|receptor agonist activity (GO:0048018)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.P164P(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		TACAGCCACCTACCAAGAAGA	0.498																																						uc001zhe.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(490-492)CCT>CCA		gremlin-1 precursor							89.0	75.0	80.0					15																	33023383		2201	4300	6501	SO:0001819	synonymous_variant	26585				negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity	g.chr15:33023383T>A		CCDS10029.1, CCDS53927.1	15q13.3	2014-02-07	2013-02-26	2004-05-07	ENSG00000166923	ENSG00000166923			2001	protein-coding gene	gene with protein product		603054	"""cysteine knot superfamily 1, BMP antagonist 1"", ""gremlin 1, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 1"", ""colorectal adenoma and carcinoma 1"""	CKTSF1B1, CRAC1		9660951, 10026205, 22561515	Standard	NM_013372		Approved	DRM, gremlin, DAND2, HMPS	uc001zhe.2	O60565	OTTHUMG00000129319	ENST00000300177.4:c.492T>A	15.37:g.33023383T>A						GREM1_uc001zhd.1_Silent_p.P94P|GREM1_uc010uby.1_Silent_p.P123P	p.P164P	NM_013372	NP_037504	O60565	GREM1_HUMAN		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)	2	651	+		all_lung(180;1.49e-09)	164			CTCK.		Q52LV3|Q8N914|Q8N936	Silent	SNP	ENST00000300177.4	37	c.492T>A	CCDS10029.1																																																																																				PASS	0.498	GREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251455.2	NM_013372		30	48	30	48	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34109158	34109158	+	Splice_Site	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr15:34109158C>T	ENST00000389232.4	+	75	10668	c.10598C>T	c.(10597-10599)gCt>gTt	p.A3533V	RYR3_ENST00000415757.3_Splice_Site_p.A3528V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3533					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.A3532V(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGGATTTGGCTGTAAGTACT	0.418																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(10597-10599)GCT>GTT		ryanodine receptor 3							54.0	52.0	53.0					15																	34109158		1868	4107	5975	SO:0001630	splice_region_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34109158C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10599+1C>T	15.37:g.34109158C>T						RYR3_uc010bar.2_Missense_Mutation_p.A3528V	p.A3533V	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	75	10668	+		all_lung(180;7.18e-09)	3533					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.10598C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163411	0.78226	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D	0.96716	-4.1	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.94823	0.8328	L	0.52573	1.65	0.80722	D	1	B;B	0.33171	0.4;0.194	B;B	0.33960	0.173;0.066	D	0.94379	0.7603	10	0.62326	D	0.03	.	18.7322	0.91739	0.0:1.0:0.0:0.0	.	3528;3533	Q15413-2;Q15413	.;RYR3_HUMAN	V	3533;3532;3528	ENSP00000373884:A3533V	ENSP00000354735:A3528V	A	+	2	0	RYR3	31896450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.650000	0.89964	0.655000	0.94253	GCT		PASS	0.418	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		Missense_Mutation	5	15	5	15	---	---	---	---
DISP2	85455	broad.mit.edu	37	15	40656136	40656136	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr15:40656136C>T	ENST00000267889.3	+	2	517	c.430C>T	c.(430-432)Cac>Tac	p.H144Y		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	144					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)		p.H144Y(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CGCTGTGCAGCACCATGTGGT	0.657																																						uc001zlk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(430-432)CAC>TAC		dispatched B							33.0	35.0	34.0					15																	40656136		2203	4297	6500	SO:0001583	missense	85455				smoothened signaling pathway	integral to membrane		g.chr15:40656136C>T	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.430C>T	15.37:g.40656136C>T	ENSP00000267889:p.His144Tyr						p.H144Y	NM_033510	NP_277045	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	2	519	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	144					Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	c.430C>T	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033387	0.75504	.	.	ENSG00000140323	ENST00000267889	T	0.12984	2.63	5.17	5.17	0.71159	.	0.250212	0.39083	N	0.001472	T	0.18841	0.0452	L	0.50333	1.59	0.39790	D	0.972424	P	0.48764	0.915	B	0.44044	0.439	T	0.01133	-1.1441	10	0.52906	T	0.07	-17.396	17.4109	0.87485	0.0:1.0:0.0:0.0	.	144	A7MBM2	DISP2_HUMAN	Y	144	ENSP00000267889:H144Y	ENSP00000267889:H144Y	H	+	1	0	DISP2	38443428	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.241000	0.51376	2.688000	0.91661	0.563000	0.77884	CAC		PASS	0.657	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		7	22	7	22	---	---	---	---
CDAN1	146059	broad.mit.edu	37	15	43024584	43024584	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr15:43024584C>T	ENST00000356231.3	-	10	1503	c.1480G>A	c.(1480-1482)Gca>Aca	p.A494T		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	494					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A494T(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CTGCAGGCTGCGGAGAGCTGA	0.517																																						uc001zql.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1480-1482)GCA>ACA		codanin 1							88.0	84.0	85.0					15																	43024584		2203	4299	6502	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43024584C>T	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.1480G>A	15.37:g.43024584C>T	ENSP00000348564:p.Ala494Thr					CDAN1_uc001zqj.2_5'Flank|CDAN1_uc001zqk.2_5'UTR|CDAN1_uc010bcx.1_RNA	p.A494T	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	10	1597	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	494					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.1480G>A	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.460557	0.26248	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.87571	-2.27	6.08	4.23	0.50019	.	0.156813	0.56097	D	0.000025	D	0.91828	0.7414	M	0.68317	2.08	0.50039	D	0.999841	D	0.89917	1.0	D	0.87578	0.998	D	0.90878	0.4751	10	0.44086	T	0.13	-4.1739	13.1279	0.59366	0.0:0.8712:0.0:0.1288	.	494	Q8IWY9	CDAN1_HUMAN	T	494;492	ENSP00000348564:A494T	ENSP00000267892:A492T	A	-	1	0	CDAN1	40811876	0.998000	0.40836	0.991000	0.47740	0.039000	0.13416	3.917000	0.56424	0.931000	0.37242	-0.727000	0.03589	GCA		PASS	0.517	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		5	38	5	38	---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62265707	62265707	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr15:62265707C>A	ENST00000261517.5	-	26	2636	c.2563G>T	c.(2563-2565)Ggt>Tgt	p.G855C	VPS13C_ENST00000395896.4_Missense_Mutation_p.G855C|VPS13C_ENST00000395898.3_Missense_Mutation_p.G812C|VPS13C_ENST00000249837.3_Missense_Mutation_p.G812C	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.G855C(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTTGTACCACCTGAAATAATA	0.328																																						uc002agz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2563-2565)GGT>TGT		vacuolar protein sorting 13C protein isoform 2A							127.0	127.0	127.0					15																	62265707		2203	4298	6501	SO:0001583	missense	54832				protein localization			g.chr15:62265707C>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.2563G>T	15.37:g.62265707C>A	ENSP00000261517:p.Gly855Cys					VPS13C_uc002aha.2_Missense_Mutation_p.G812C|VPS13C_uc002ahb.1_Missense_Mutation_p.G855C|VPS13C_uc002ahc.1_Missense_Mutation_p.G812C	p.G855C	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			26	2637	-			855						Missense_Mutation	SNP	ENST00000261517.5	37	c.2563G>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	8.329	0.826042	0.16749	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.45276	0.9;0.9;1.07	4.99	-2.91	0.05631	.	1.113020	0.06800	N	0.788515	T	0.35335	0.0928	L	0.29908	0.895	0.09310	N	1	P;P;P;P	0.39181	0.663;0.663;0.463;0.483	B;P;P;B	0.45610	0.413;0.487;0.482;0.289	T	0.42616	-0.9441	10	0.56958	D	0.05	.	6.4866	0.22093	0.1203:0.3705:0.0:0.5092	.	812;855;812;855	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	C	812;855;855;855	ENSP00000249837:G812C;ENSP00000261517:G855C;ENSP00000379233:G855C	ENSP00000249837:G812C	G	-	1	0	VPS13C	60052999	0.001000	0.12720	0.003000	0.11579	0.333000	0.28666	-0.307000	0.08167	-0.678000	0.05224	-0.225000	0.12378	GGT		PASS	0.328	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		5	63	5	63	---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64791652	64791652	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr15:64791652G>A	ENST00000326648.3	+	1	162	c.34G>A	c.(34-36)Gga>Aga	p.G12R	ZNF609_ENST00000416172.1_Missense_Mutation_p.G12R	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	12						nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.G12R(3)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGGAGGGAAAGGAGTGGATGC	0.517																																						uc002ann.2																			3	Substitution - Missense(3)		lung(3)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(34-36)GGA>AGA		zinc finger protein 609							134.0	122.0	126.0					15																	64791652		2203	4300	6503	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64791652G>A	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.34G>A	15.37:g.64791652G>A	ENSP00000316527:p.Gly12Arg					ZNF609_uc010bgy.2_Missense_Mutation_p.G12R	p.G12R	NM_015042	NP_055857	O15014	ZN609_HUMAN			1	34	+			12					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.34G>A	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	.	21.5	4.160645	0.78226	.	.	ENSG00000180357	ENST00000416172;ENST00000326648	T	0.56941	0.43	5.48	5.48	0.80851	.	0.064572	0.64402	D	0.000014	T	0.72447	0.3461	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.97110	0.921;1.0	T	0.71286	-0.4638	10	0.48119	T	0.1	-24.2353	19.7418	0.96234	0.0:0.0:1.0:0.0	.	12;12	E7ERY8;O15014	.;ZN609_HUMAN	R	12	ENSP00000316527:G12R	ENSP00000316527:G12R	G	+	1	0	ZNF609	62578705	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.406000	0.97321	2.742000	0.94016	0.645000	0.84053	GGA		PASS	0.517	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		9	104	9	104	---	---	---	---
SMAD3	4088	broad.mit.edu	37	15	67457287	67457287	+	Silent	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr15:67457287C>A	ENST00000327367.4	+	2	571	c.261C>A	c.(259-261)atC>atA	p.I87I	SMAD3_ENST00000439724.3_Silent_p.I43I|SMAD3_ENST00000537194.2_5'Flank|SMAD3_ENST00000559092.1_Missense_Mutation_p.S69Y|SMAD3_ENST00000540846.2_5'UTR	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	87	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I87I(1)|p.I43I(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CTCATGTCATCTACTGCCGCC	0.602																																						uc002aqj.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						c.(259-261)ATC>ATA		mothers against decapentaplegic homolog 3							111.0	123.0	119.0					15																	67457287		2201	4299	6500	SO:0001819	synonymous_variant	4088				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	g.chr15:67457287C>A	BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.261C>A	15.37:g.67457287C>A						SMAD3_uc010ujr.1_5'UTR|SMAD3_uc010ujs.1_Silent_p.I43I|SMAD3_uc010ujt.1_5'Flank	p.I87I	NM_005902	NP_005893	P84022	SMAD3_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)	2	559	+			87			MH1.		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Silent	SNP	ENST00000327367.4	37	c.261C>A	CCDS10222.1																																																																																				PASS	0.602	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902		24	46	24	46	---	---	---	---
PARP6	56965	broad.mit.edu	37	15	72554003	72554003	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr15:72554003A>T	ENST00000569795.1	-	9	1128	c.441T>A	c.(439-441)aaT>aaA	p.N147K	PARP6_ENST00000260376.7_Missense_Mutation_p.N147K|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Missense_Mutation_p.N147K			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	147							NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.N147K(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						TCAAGAAATCATTGCTCAGAT	0.468																																						uc002auc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(439-441)AAT>AAA		poly (ADP-ribose) polymerase family, member 6							343.0	326.0	332.0					15																	72554003		1940	4151	6091	SO:0001583	missense	56965						NAD+ ADP-ribosyltransferase activity	g.chr15:72554003A>T	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.441T>A	15.37:g.72554003A>T	ENSP00000456348:p.Asn147Lys					PARP6_uc002aua.2_Missense_Mutation_p.N12K|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Missense_Mutation_p.N147K	p.N147K	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN			8	900	-			147					Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP	ENST00000569795.1	37	c.441T>A	CCDS10241.2	.	.	.	.	.	.	.	.	.	.	g	11.05	1.525852	0.27299	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376;ENST00000413097;ENST00000544520;ENST00000336471	.	.	.	4.66	1.61	0.23674	.	0.000000	0.85682	D	0.000000	T	0.23210	0.0561	N	0.14661	0.345	0.26878	N	0.967597	B;B;B	0.28713	0.22;0.127;0.005	B;B;B	0.22880	0.03;0.042;0.005	T	0.12319	-1.0552	9	0.66056	D	0.02	-16.8321	9.6271	0.39757	0.4547:0.0:0.5453:0.0	.	147;147;99	Q0VDG0;Q2NL67;A0PJ50	.;PARP6_HUMAN;.	K	147;147;147;12;12;147	.	ENSP00000260376:N147K	N	-	3	2	PARP6	70341057	0.997000	0.39634	0.997000	0.53966	0.416000	0.31233	0.463000	0.21972	-0.090000	0.12462	-1.095000	0.02154	AAT		PASS	0.468	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214		115	214	115	214	---	---	---	---
MAN2C1	4123	broad.mit.edu	37	15	75651097	75651097	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr15:75651097C>T	ENST00000267978.5	-	19	2240	c.2194G>A	c.(2194-2196)Gtc>Atc	p.V732I	MAN2C1_ENST00000565683.1_Missense_Mutation_p.V749I|MAN2C1_ENST00000569482.1_Missense_Mutation_p.V732I|MAN2C1_ENST00000563622.1_Missense_Mutation_p.V633I	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	732					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.V732I(1)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TACAAGGGGACATCATCAAAT	0.572																																						uc002baf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2194-2196)GTC>ATC		mannosidase, alpha, class 2C, member 1							140.0	93.0	109.0					15																	75651097		2197	4294	6491	SO:0001583	missense	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75651097C>T	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.2194G>A	15.37:g.75651097C>T	ENSP00000267978:p.Val732Ile					MAN2C1_uc002bag.2_Missense_Mutation_p.V732I|MAN2C1_uc002bah.2_Missense_Mutation_p.V749I|MAN2C1_uc010bkk.2_Missense_Mutation_p.V633I	p.V732I	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN			19	2211	-			732					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	c.2194G>A	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057985	0.36277	.	.	ENSG00000140400	ENST00000267978	T	0.16597	2.33	5.72	5.72	0.89469	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.055071	0.64402	D	0.000001	T	0.09202	0.0227	N	0.15975	0.35	0.49582	D	0.999804	B;B	0.26577	0.153;0.07	B;B	0.27262	0.078;0.078	T	0.29792	-1.0000	10	0.11794	T	0.64	-33.2241	8.924	0.35630	0.0:0.8424:0.0:0.1576	.	732;732	Q68EM8;Q9NTJ4	.;MA2C1_HUMAN	I	732	ENSP00000267978:V732I	ENSP00000267978:V732I	V	-	1	0	MAN2C1	73438150	0.803000	0.28956	0.993000	0.49108	0.963000	0.63663	1.610000	0.36869	2.703000	0.92315	0.561000	0.74099	GTC		PASS	0.572	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			6	17	6	17	---	---	---	---
CSPG4	1464	broad.mit.edu	37	15	75981901	75981901	+	Missense_Mutation	SNP	C	C	T	rs556484915		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr15:75981901C>T	ENST00000308508.5	-	3	1597	c.1505G>A	c.(1504-1506)cGc>cAc	p.R502H		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	502	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.R502H(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCGGGCCTTGCGGTTCACCAC	0.652													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22021	0.0		0.0	False		,,,				2504	0.0					uc002baw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1504-1506)CGC>CAC		chondroitin sulfate proteoglycan 4 precursor							47.0	45.0	46.0					15																	75981901		2185	4276	6461	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75981901C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1505G>A	15.37:g.75981901C>T	ENSP00000312506:p.Arg502His						p.R502H	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			3	1598	-			502			Extracellular (Potential).|CSPG 1.|Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.1505G>A	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	10.98	1.503163	0.26949	.	.	ENSG00000173546	ENST00000308508	T	0.45276	0.9	5.12	2.22	0.28083	.	0.180659	0.39210	N	0.001439	T	0.24198	0.0586	L	0.27053	0.805	0.39842	D	0.973129	B	0.09022	0.002	B	0.04013	0.001	T	0.08806	-1.0704	10	0.13108	T	0.6	.	7.7037	0.28638	0.0:0.6638:0.0:0.3362	.	502	Q6UVK1	CSPG4_HUMAN	H	502	ENSP00000312506:R502H	ENSP00000312506:R502H	R	-	2	0	CSPG4	73768956	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	2.353000	0.44089	0.192000	0.20272	0.555000	0.69702	CGC		PASS	0.652	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		14	41	14	41	---	---	---	---
SCAPER	49855	broad.mit.edu	37	15	76673733	76673733	+	Silent	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr15:76673733G>A	ENST00000563290.1	-	28	3786	c.3691C>T	c.(3691-3693)Ctg>Ttg	p.L1231L	SCAPER_ENST00000538941.2_Silent_p.L985L|SCAPER_ENST00000324767.7_Silent_p.L1231L			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1231						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.L1231L(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						AAAGCAGGCAGATGAAGAGCT	0.413																																						uc002bby.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)	3						c.(3691-3693)CTG>TTG		S-phase cyclin A-associated protein in the ER							65.0	60.0	62.0					15																	76673733		1912	4124	6036	SO:0001819	synonymous_variant	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:76673733G>A	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.3691C>T	15.37:g.76673733G>A						SCAPER_uc010bkr.2_Silent_p.L539L|SCAPER_uc002bbx.2_Silent_p.L985L|SCAPER_uc002bbz.1_Silent_p.L1102L	p.L1231L	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN			27	3750	-			1230					F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Silent	SNP	ENST00000563290.1	37	c.3691C>T	CCDS53962.1																																																																																				PASS	0.413	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		13	33	13	33	---	---	---	---
PSMA4	5685	broad.mit.edu	37	15	78837990	78837990	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr15:78837990G>T	ENST00000044462.7	+	7	541	c.391G>T	c.(391-393)Ggt>Tgt	p.G131C	PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000413382.2_Missense_Mutation_p.G60C|PSMA4_ENST00000560217.1_Missense_Mutation_p.G100C|PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000558094.1_Missense_Mutation_p.G43C|PSMA4_ENST00000558281.1_Missense_Mutation_p.G131C|PSMA4_ENST00000559082.1_Missense_Mutation_p.G131C	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	131					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)	p.G131C(1)		kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						ACGTCCCTTTGGTGTTTCATT	0.403																																						uc002bdu.3																			1	Substitution - Missense(1)		lung(1)		0						c.(391-393)GGT>TGT		proteasome alpha 4 subunit isoform 1							207.0	205.0	205.0					15																	78837990		2196	4293	6489	SO:0001583	missense	5685				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity	g.chr15:78837990G>T	BC005361	CCDS10303.1, CCDS45319.1	15q24.1	2004-01-19			ENSG00000041357	ENSG00000041357		"""Proteasome (prosome, macropain) subunits"""	9533	protein-coding gene	gene with protein product		176846				2025653	Standard	NM_002789		Approved	HC9, HsT17706	uc010blf.3	P25789	OTTHUMG00000143859	ENST00000044462.7:c.391G>T	15.37:g.78837990G>T	ENSP00000044462:p.Gly131Cys					PSMA4_uc010blf.2_Missense_Mutation_p.G131C|PSMA4_uc002bdv.3_Missense_Mutation_p.G60C|PSMA4_uc002bdw.3_Missense_Mutation_p.G107C|PSMA4_uc002bdx.3_Missense_Mutation_p.G60C	p.G131C	NM_002789	NP_002780	P25789	PSA4_HUMAN			7	549	+			131					D3DW86|Q53XP2|Q567Q5|Q8TBD1	Missense_Mutation	SNP	ENST00000044462.7	37	c.391G>T	CCDS10303.1	.	.	.	.	.	.	.	.	.	.	G	32	5.129239	0.94473	.	.	ENSG00000041357	ENST00000413382;ENST00000044462	T;T	0.29397	1.57;1.57	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.75258	0.3825	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84731	0.0745	10	0.87932	D	0	-30.9229	20.6721	0.99693	0.0:0.0:1.0:0.0	.	131	P25789	PSA4_HUMAN	C	60;131	ENSP00000402118:G60C;ENSP00000044462:G131C	ENSP00000044462:G131C	G	+	1	0	PSMA4	76625045	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.575000	0.98187	2.894000	0.99253	0.591000	0.81541	GGT		PASS	0.403	PSMA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290107.5	NM_002789		6	128	6	128	---	---	---	---
CHRNA3	1136	broad.mit.edu	37	15	78894195	78894195	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr15:78894195G>T	ENST00000326828.5	-	5	1173	c.789C>A	c.(787-789)ttC>ttA	p.F263L	CHRNA3_ENST00000348639.3_Missense_Mutation_p.F263L	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	263					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.F263L(1)		central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	AGGGCAGGTAGAAGACGAGCA	0.557																																						uc002bec.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(787-789)TTC>TTA		cholinergic receptor, nicotinic, alpha 3							189.0	154.0	166.0					15																	78894195		2196	4293	6489	SO:0001583	missense	1136				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78894195G>T		CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1957	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 3 (neuronal)"""	118503	"""cholinergic receptor, nicotinic, alpha polypeptide 3"""			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.789C>A	15.37:g.78894195G>T	ENSP00000315602:p.Phe263Leu					CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Missense_Mutation_p.F263L	p.F263L	NM_000743	NP_000734	P32297	ACHA3_HUMAN			5	975	-			263			Helical; (Potential).		Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Missense_Mutation	SNP	ENST00000326828.5	37	c.789C>A	CCDS10305.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866806	0.72065	.	.	ENSG00000080644	ENST00000348639;ENST00000326828;ENST00000326858	D;D	0.95885	-3.84;-3.84	5.65	5.65	0.86999	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.98018	0.9347	M	0.93283	3.4	0.58432	D	0.999995	P;P	0.48640	0.913;0.893	P;P	0.62649	0.905;0.749	D	0.98519	1.0622	10	0.72032	D	0.01	.	12.9855	0.58590	0.0735:0.0:0.9264:0.0	.	263;263	P32297;P32297-3	ACHA3_HUMAN;.	L	263;263;127	ENSP00000267951:F263L;ENSP00000315602:F263L	ENSP00000315602:F263L	F	-	3	2	CHRNA3	76681250	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.519000	0.53458	2.659000	0.90383	0.655000	0.94253	TTC		PASS	0.557	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3			17	27	17	27	---	---	---	---
TMC3	342125	broad.mit.edu	37	15	81636343	81636343	+	Missense_Mutation	SNP	G	G	A	rs199928703		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr15:81636343G>A	ENST00000359440.5	-	14	1697	c.1562C>T	c.(1561-1563)gCg>gTg	p.A521V	RP11-761I4.3_ENST00000559277.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.A522V|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3									p.A521V(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CAGAATGCTCGCCACGGTGAA	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		19112	0.001		0.0	False		,,,				2504	0.0					uc002bgo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|liver(1)	2						c.(1561-1563)GCG>GTG		transmembrane channel-like 3							68.0	68.0	68.0					15																	81636343		2081	4220	6301	SO:0001583	missense	342125					integral to membrane		g.chr15:81636343G>A	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.1562C>T	15.37:g.81636343G>A	ENSP00000352413:p.Ala521Val					TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Missense_Mutation_p.A521V	p.A521V	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN			14	1562	-			521			Helical; (Potential).			Missense_Mutation	SNP	ENST00000359440.5	37	c.1562C>T	CCDS45324.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	13.65	2.300485	0.40694	.	.	ENSG00000188869	ENST00000359440	T	0.61742	0.08	5.48	3.49	0.39957	.	0.000000	0.85682	D	0.000000	T	0.34978	0.0916	N	0.05259	-0.085	0.53005	D	0.999969	D;P	0.53619	0.961;0.946	P;P	0.48089	0.566;0.547	T	0.37103	-0.9720	10	0.02654	T	1	-27.4159	10.3802	0.44108	0.0727:0.1354:0.7918:0.0	.	521;521	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	V	521	ENSP00000352413:A521V	ENSP00000352413:A521V	A	-	2	0	TMC3	79423398	1.000000	0.71417	0.979000	0.43373	0.843000	0.47879	5.298000	0.65710	1.298000	0.44778	0.585000	0.79938	GCG		PASS	0.517	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		20	31	20	31	---	---	---	---
TMC3	342125	broad.mit.edu	37	15	81638754	81638754	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr15:81638754G>T	ENST00000359440.5	-	12	1359	c.1224C>A	c.(1222-1224)taC>taA	p.Y408*	RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000558726.1_Nonsense_Mutation_p.Y409*|RP11-761I4.3_ENST00000559781.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3									p.Y408*(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TGATCAGGCTGTAGAGATTTC	0.522																																						uc002bgo.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|liver(1)	2						c.(1222-1224)TAC>TAA		transmembrane channel-like 3							97.0	99.0	98.0					15																	81638754		2001	4188	6189	SO:0001587	stop_gained	342125					integral to membrane		g.chr15:81638754G>T	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.1224C>A	15.37:g.81638754G>T	ENSP00000352413:p.Tyr408*					TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Nonsense_Mutation_p.Y408*	p.Y408*	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN			12	1224	-			408			Helical; (Potential).			Nonsense_Mutation	SNP	ENST00000359440.5	37	c.1224C>A	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	G	39	7.391461	0.98255	.	.	ENSG00000188869	ENST00000359440	.	.	.	4.9	4.9	0.64082	.	0.133651	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.5083	18.463	0.90746	0.0:0.0:1.0:0.0	.	.	.	.	X	408	.	ENSP00000352413:Y408X	Y	-	3	2	TMC3	79425809	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.466000	0.80914	2.404000	0.81709	0.655000	0.94253	TAC		PASS	0.522	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		15	33	15	33	---	---	---	---
BNC1	646	broad.mit.edu	37	15	83926460	83926460	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr15:83926460G>T	ENST00000345382.2	-	5	2804	c.2719C>A	c.(2719-2721)Ccc>Acc	p.P907T	BNC1_ENST00000569704.1_Missense_Mutation_p.P900T|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	907					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P907T(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ACACAGATGGGGTACTCATCT	0.542																																						uc002bjt.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2719-2721)CCC>ACC		basonuclin 1							210.0	191.0	197.0					15																	83926460		2203	4300	6503	SO:0001583	missense	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83926460G>T	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2719C>A	15.37:g.83926460G>T	ENSP00000307041:p.Pro907Thr					BNC1_uc010uos.1_Missense_Mutation_p.P895T	p.P907T	NM_001717	NP_001708	Q01954	BNC1_HUMAN			5	2807	-			907					Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.2719C>A	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.011850	0.54468	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.44083	0.93	5.4	5.4	0.78164	.	0.357897	0.30068	N	0.010487	T	0.44265	0.1285	L	0.36672	1.1	0.30929	N	0.727168	P;P	0.46395	0.873;0.877	P;P	0.47346	0.544;0.494	T	0.46978	-0.9152	10	0.51188	T	0.08	-29.8059	18.3514	0.90339	0.0:0.0:1.0:0.0	.	900;907	F5GY04;Q01954	.;BNC1_HUMAN	T	907;900	ENSP00000307041:P907T	ENSP00000307041:P907T	P	-	1	0	BNC1	81717464	1.000000	0.71417	0.577000	0.28562	0.987000	0.75469	4.640000	0.61368	2.811000	0.96726	0.557000	0.71058	CCC		PASS	0.542	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		7	167	7	167	---	---	---	---
FBXL16	146330	broad.mit.edu	37	16	746775	746775	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr16:746775C>A	ENST00000397621.1	-	2	962	c.631G>T	c.(631-633)Gag>Tag	p.E211*	FBXL16_ENST00000562585.1_5'Flank|FBXL16_ENST00000324361.5_Nonsense_Mutation_p.E211*|FBXL16_ENST00000562563.1_5'Flank	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	211								p.E211*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				GTGCACACCTCGAGGCCTGCG	0.637																																						uc002cjc.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(631-633)GAG>TAG		F-box and leucine-rich repeat protein 16							44.0	40.0	41.0					16																	746775		2198	4298	6496	SO:0001587	stop_gained	146330							g.chr16:746775C>A	BC036680	CCDS10421.1	16p13.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000127585	ENSG00000127585		"""F-boxes / Leucine-rich repeats"""	14150	protein-coding gene	gene with protein product		609082	"""chromosome 16 open reading frame 22"""	C16orf22		11157797	Standard	NM_153350		Approved	MGC33974, Fbl16	uc021taa.1	Q8N461	OTTHUMG00000090420	ENST00000397621.1:c.631G>T	16.37:g.746775C>A	ENSP00000380746:p.Glu211*					FBXL16_uc002cja.2_5'Flank|FBXL16_uc002cjb.2_5'Flank	p.E211*	NM_153350	NP_699181	Q8N461	FXL16_HUMAN			3	834	-		Hepatocellular(780;0.0218)	211					B3KR59|D3DU60|Q2MHR2|Q96S14|Q9UJI0	Nonsense_Mutation	SNP	ENST00000397621.1	37	c.631G>T	CCDS10421.1	.	.	.	.	.	.	.	.	.	.	c	37	6.346433	0.97494	.	.	ENSG00000127585	ENST00000397621;ENST00000324361	.	.	.	3.86	3.86	0.44501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	15.1518	0.72706	0.0:1.0:0.0:0.0	.	.	.	.	X	211	.	ENSP00000318674:E211X	E	-	1	0	FBXL16	686776	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	7.326000	0.79133	1.879000	0.54435	0.313000	0.20887	GAG		PASS	0.637	FBXL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206851.2	NM_153350		4	19	4	19	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3828795	3828795	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr16:3828795G>C	ENST00000262367.5	-	9	2656	c.1847C>G	c.(1846-1848)cCt>cGt	p.P616R	CREBBP_ENST00000382070.3_Missense_Mutation_p.P578R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	616	KIX. {ECO:0000255|PROSITE- ProRule:PRU00311}.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P616R(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGCGGGATCAGGTGTTGGGAA	0.468			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2				Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(1846-1848)CCT>CGT		CREB binding protein isoform a							170.0	155.0	160.0					16																	3828795		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3828795G>C	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.1847C>G	16.37:g.3828795G>C	ENSP00000262367:p.Pro616Arg					CREBBP_uc002cvw.2_Missense_Mutation_p.P578R	p.P616R	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	9	2051	-		Ovarian(90;0.0266)	616			KIX.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.1847C>G	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799213	0.70567	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.87491	-2.26;-2.15	5.11	5.11	0.69529	Coactivator CBP, KIX (4);	0.000000	0.64402	D	0.000001	D	0.94288	0.8165	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	D	0.94971	0.8117	10	0.87932	D	0	-8.4403	18.8874	0.92385	0.0:0.0:1.0:0.0	.	646;616	Q4LE28;Q92793	.;CBP_HUMAN	R	616;646;578	ENSP00000262367:P616R;ENSP00000371502:P578R	ENSP00000262367:P616R	P	-	2	0	CREBBP	3768796	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.727000	0.98787	2.528000	0.85240	0.563000	0.77884	CCT		PASS	0.468	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		26	62	26	62	---	---	---	---
GRIN2A	2903	broad.mit.edu	37	16	9892214	9892214	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr16:9892214G>T	ENST00000396573.2	-	12	2585	c.2276C>A	c.(2275-2277)aCc>aAc	p.T759N	GRIN2A_ENST00000562109.1_Missense_Mutation_p.T759N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T759N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.T759N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T759N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.T602N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	759					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.T759N(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCCATAACCGGTGGTGGCAAA	0.552																																						uc002czo.3																			1	Substitution - Missense(1)		lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(2275-2277)ACC>AAC		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						116.0	86.0	96.0					16																	9892214		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9892214G>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2276C>A	16.37:g.9892214G>T	ENSP00000379818:p.Thr759Asn					GRIN2A_uc010uym.1_Missense_Mutation_p.T759N|GRIN2A_uc010uyn.1_Missense_Mutation_p.T602N|GRIN2A_uc002czr.3_Missense_Mutation_p.T759N	p.T759N	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			11	2824	-			759			Extracellular (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.2276C>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442256	0.63067	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	5.03	5.03	0.67393	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.048888	0.85682	D	0.000000	T	0.53012	0.1770	M	0.76838	2.35	0.80722	D	1	P;P;D	0.71674	0.699;0.859;0.998	B;P;D	0.80764	0.361;0.498;0.994	T	0.54990	-0.8210	9	.	.	.	.	17.3567	0.87338	0.0:0.0:1.0:0.0	.	602;759;759	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	N	759;759;602;759;759	ENSP00000379818:T759N;ENSP00000385872:T759N;ENSP00000441572:T602N;ENSP00000332549:T759N;ENSP00000379820:T759N	.	T	-	2	0	GRIN2A	9799715	1.000000	0.71417	0.995000	0.50966	0.952000	0.60782	9.690000	0.98676	2.337000	0.79520	0.557000	0.71058	ACC		PASS	0.552	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			11	28	11	28	---	---	---	---
KIAA0556	23247	broad.mit.edu	37	16	27629747	27629747	+	Splice_Site	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr16:27629747G>T	ENST00000261588.4	+	3	84	c.65G>T	c.(64-66)gGt>gTt	p.G22V		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	22						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G22V(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TCATTTCAGGGTTACGCTAAG	0.512																																						uc002dow.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						c.(64-66)GGT>GTT		hypothetical protein LOC23247							110.0	97.0	101.0					16																	27629747		2197	4300	6497	SO:0001630	splice_region_variant	23247							g.chr16:27629747G>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.64-1G>T	16.37:g.27629747G>T							p.G22V	NM_015202	NP_056017	O60303	K0556_HUMAN			3	89	+			22					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.65G>T	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059161	0.55325	.	.	ENSG00000047578	ENST00000261588	T	0.42900	0.96	4.87	2.81	0.32909	.	0.255320	0.28730	N	0.014337	T	0.48295	0.1492	L	0.36672	1.1	0.54753	D	0.99998	D	0.62365	0.991	P	0.60886	0.88	T	0.45249	-0.9274	10	0.66056	D	0.02	-3.8899	11.5609	0.50776	0.0:0.3483:0.6517:0.0	.	22	O60303	K0556_HUMAN	V	22	ENSP00000261588:G22V	ENSP00000261588:G22V	G	+	2	0	KIAA0556	27537248	0.997000	0.39634	0.997000	0.53966	0.956000	0.61745	0.309000	0.19332	0.509000	0.28195	0.561000	0.74099	GGT		PASS	0.512	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202	Missense_Mutation	15	34	15	34	---	---	---	---
MMP2	4313	broad.mit.edu	37	16	55539304	55539304	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr16:55539304C>G	ENST00000219070.4	+	13	2442	c.1933C>G	c.(1933-1935)Ctg>Gtg	p.L645V	MMP2_ENST00000437642.2_Missense_Mutation_p.L595V|MMP2_ENST00000570308.1_Missense_Mutation_p.L569V|MMP2_ENST00000543485.1_Missense_Mutation_p.L569V	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	645	Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.L645V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	GAACCAAAGTCTGAAGAGCGT	0.532																																						uc002ehz.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11						c.(1933-1935)CTG>GTG		matrix metalloproteinase 2 isoform a	Marimastat(DB00786)|Sulindac(DB00605)						165.0	160.0	162.0					16																	55539304		2198	4300	6498	SO:0001583	missense	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55539304C>G		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1933C>G	16.37:g.55539304C>G	ENSP00000219070:p.Leu645Val					MMP2_uc010vhd.1_Missense_Mutation_p.L569V|MMP2_uc010ccc.2_Missense_Mutation_p.L595V|MMP2_uc002eia.3_Missense_Mutation_p.L142V	p.L645V	NM_004530	NP_004521	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	13	2244	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	645			Required for inhibitor TIMP2 binding.|Hemopexin-like 4.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	c.1933C>G	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	C	6.253	0.414724	0.11870	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.02472	4.28;4.28;4.28	5.38	3.41	0.39046	Hemopexin/matrixin (2);	0.153666	0.45606	D	0.000359	T	0.03608	0.0103	L	0.53780	1.695	0.53688	D	0.999976	B;B	0.14012	0.001;0.009	B;B	0.17098	0.004;0.017	T	0.36648	-0.9739	10	0.46703	T	0.11	.	6.6029	0.22710	0.0:0.6879:0.1491:0.163	.	595;645	E9PE45;P08253	.;MMP2_HUMAN	V	645;569;595	ENSP00000219070:L645V;ENSP00000444143:L569V;ENSP00000394237:L595V	ENSP00000219070:L645V	L	+	1	2	MMP2	54096805	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	0.401000	0.20948	1.265000	0.44215	0.563000	0.77884	CTG		PASS	0.532	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			46	99	46	99	---	---	---	---
CES1	1066	broad.mit.edu	37	16	55844887	55844887	+	Silent	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr16:55844887C>A	ENST00000361503.4	-	10	1249	c.1119G>T	c.(1117-1119)ctG>ctT	p.L373L	CES1_ENST00000360526.3_Silent_p.L374L|CES1_ENST00000422046.2_Silent_p.L372L			P23141	EST1_HUMAN	carboxylesterase 1	373					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)	p.L374L(1)							all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	TCTTCTGGTCCAGTTGCCCTT	0.428																																					NSCLC(162;1801 2756 42904 52896)	uc002eim.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1117-1119)CTG>CTT		carboxylesterase 1 isoform b precursor	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						74.0	71.0	72.0					16																	55844887		2198	4300	6498	SO:0001819	synonymous_variant	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55844887C>A	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.1119G>T	16.37:g.55844887C>A						CES1_uc010ccf.2_Silent_p.L48L|CES1_uc002eil.2_Silent_p.L374L|CES1_uc002ein.2_Silent_p.L372L	p.L373L	NM_001025194	NP_001020365	P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	10	1227	-			373					A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Silent	SNP	ENST00000361503.4	37	c.1119G>T	CCDS45488.1																																																																																				PASS	0.428	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		7	26	7	26	---	---	---	---
CIAPIN1	57019	broad.mit.edu	37	16	57465090	57465090	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr16:57465090C>T	ENST00000394391.4	-	7	960	c.719G>A	c.(718-720)gGg>gAg	p.G240E	CIAPIN1_ENST00000569246.1_5'Flank|CIAPIN1_ENST00000565961.1_Intron|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.G227E|CIAPIN1_ENST00000568940.1_Intron|CIAPIN1_ENST00000569370.1_Intron|CIAPIN1_ENST00000569979.1_Intron	NM_020313.2	NP_064709.2			cytokine induced apoptosis inhibitor 1									p.G240E(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						CCTCTTTTTCCCTTCCCCACA	0.542																																						uc002ell.1																			1	Substitution - Missense(1)		lung(1)		0						c.(718-720)GGG>GAG		cytokine induced apoptosis inhibitor 1							105.0	107.0	106.0					16																	57465090		1921	4134	6055	SO:0001583	missense	57019				anti-apoptosis|apoptosis	cytoplasm|nucleolus		g.chr16:57465090C>T	AF248964	CCDS10781.2	16q21	2012-09-20			ENSG00000005194	ENSG00000005194			28050	protein-coding gene	gene with protein product		608943				10493829, 11230166	Standard	XM_005256061		Approved	Anamorsin	uc002ell.1	Q6FI81	OTTHUMG00000133457	ENST00000394391.4:c.719G>A	16.37:g.57465090C>T	ENSP00000377914:p.Gly240Glu					CIAPIN1_uc002elk.1_RNA|CIAPIN1_uc002elm.1_Missense_Mutation_p.G227E|CIAPIN1_uc002eln.1_Intron|CIAPIN1_uc010cda.1_Missense_Mutation_p.G240E|CIAPIN1_uc002elo.1_Intron	p.G240E	NM_020313	NP_064709	Q6FI81	CPIN1_HUMAN			7	890	-			240						Missense_Mutation	SNP	ENST00000394391.4	37	c.719G>A	CCDS10781.2	.	.	.	.	.	.	.	.	.	.	C	6.683	0.494644	0.12702	.	.	ENSG00000005194	ENST00000394391	T	0.34667	1.35	4.82	4.82	0.62117	.	0.394334	0.30252	N	0.010046	T	0.37544	0.1007	M	0.83774	2.66	0.80722	D	1	B;B	0.31548	0.328;0.099	B;B	0.24541	0.054;0.035	T	0.39860	-0.9593	10	0.49607	T	0.09	-11.842	8.3225	0.32136	0.157:0.76:0.0:0.083	.	227;240	Q6FI81-3;Q6FI81	.;CPIN1_HUMAN	E	240	ENSP00000377914:G240E	ENSP00000377914:G240E	G	-	2	0	CIAPIN1	56022591	0.035000	0.19736	1.000000	0.80357	0.245000	0.25701	0.161000	0.16481	2.398000	0.81561	0.462000	0.41574	GGG		PASS	0.542	CIAPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257332.4	NM_020313		37	72	37	72	---	---	---	---
PRSS54	221191	broad.mit.edu	37	16	58327644	58327644	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr16:58327644G>A	ENST00000219301.4	-	3	471	c.77C>T	c.(76-78)tCt>tTt	p.S26F	PRSS54_ENST00000543437.1_5'UTR|PRSS54_ENST00000567164.1_Missense_Mutation_p.S26F	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	26						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.S26F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACTGGTGGAAGAATAGAGAAG	0.572																																						uc002enf.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(76-78)TCT>TTT		plasma kallikrein-like protein 4 precursor							92.0	65.0	74.0					16																	58327644		2198	4300	6498	SO:0001583	missense	221191				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:58327644G>A	AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023		"""Serine peptidases / Serine peptidases"""	26336	protein-coding gene	gene with protein product	"""cancer/testis antigen 67"""					17521433	Standard	NM_001080492		Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.77C>T	16.37:g.58327644G>A	ENSP00000219301:p.Ser26Phe					PRSS54_uc002eng.2_Missense_Mutation_p.S26F|PRSS54_uc010vie.1_5'UTR	p.S26F	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN			3	472	-			26					Q96LN9|Q9NT77	Missense_Mutation	SNP	ENST00000219301.4	37	c.77C>T	CCDS32463.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.867756	0.32977	.	.	ENSG00000103023	ENST00000219301	D	0.90069	-2.61	4.55	4.55	0.56014	.	0.239623	0.29594	N	0.011704	D	0.90177	0.6930	L	0.34521	1.04	0.09310	N	0.999998	D	0.69078	0.997	D	0.65573	0.936	D	0.83635	0.0147	10	0.87932	D	0	-5.1013	13.5402	0.61671	0.0:0.0:1.0:0.0	.	26	Q6PEW0	PRS54_HUMAN	F	26	ENSP00000219301:S26F	ENSP00000219301:S26F	S	-	2	0	PRSS54	56885145	0.911000	0.30947	0.038000	0.18304	0.009000	0.06853	4.135000	0.57997	2.461000	0.83175	0.555000	0.69702	TCT		PASS	0.572	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422556.1	NM_001080492		3	9	3	9	---	---	---	---
KCTD19	146212	broad.mit.edu	37	16	67327991	67327991	+	Silent	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr16:67327991G>T	ENST00000304372.5	-	12	1729	c.1674C>A	c.(1672-1674)tcC>tcA	p.S558S		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	558					protein homooligomerization (GO:0051260)			p.S558S(1)		endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CCATCTGGTTGGACCTGACCA	0.572																																						uc002esu.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1672-1674)TCC>TCA		potassium channel tetramerisation domain							212.0	208.0	210.0					16																	67327991		2031	4183	6214	SO:0001819	synonymous_variant	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67327991G>T	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.1674C>A	16.37:g.67327991G>T						KCTD19_uc002est.2_Silent_p.S330S|KCTD19_uc010vjj.1_Silent_p.S301S	p.S558S	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	12	1725	-		Ovarian(137;0.192)	558					B4DZ49|Q8N804	Silent	SNP	ENST00000304372.5	37	c.1674C>A	CCDS42179.1																																																																																				PASS	0.572	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		6	159	6	159	---	---	---	---
SF3B3	23450	broad.mit.edu	37	16	70597869	70597869	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr16:70597869G>T	ENST00000302516.5	+	18	2590	c.2379G>T	c.(2377-2379)gaG>gaT	p.E793D		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	793					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)	p.E793D(1)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TCCACCCTGAGAGTAACAACC	0.458																																						uc002ezf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2377-2379)GAG>GAT		splicing factor 3b, subunit 3							173.0	153.0	160.0					16																	70597869		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70597869G>T	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.2379G>T	16.37:g.70597869G>T	ENSP00000305790:p.Glu793Asp						p.E793D	NM_012426	NP_036558	Q15393	SF3B3_HUMAN			18	2590	+		Ovarian(137;0.0694)	793					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.2379G>T	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521704	0.27211	.	.	ENSG00000189091	ENST00000302516	T	0.11169	2.8	5.35	1.15	0.20763	.	0.000000	0.85682	D	0.000000	T	0.04227	0.0117	N	0.05050	-0.12	0.48135	D	0.99959	B	0.02656	0.0	B	0.06405	0.002	T	0.45086	-0.9285	10	0.14252	T	0.57	-0.3346	8.6133	0.33815	0.3728:0.0:0.6272:0.0	.	793	Q15393	SF3B3_HUMAN	D	793	ENSP00000305790:E793D	ENSP00000305790:E793D	E	+	3	2	SF3B3	69155370	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.780000	0.38634	0.055000	0.16094	0.655000	0.94253	GAG		PASS	0.458	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		6	103	6	103	---	---	---	---
DHX38	9785	broad.mit.edu	37	16	72142152	72142152	+	Silent	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr16:72142152C>A	ENST00000268482.3	+	22	3500	c.2991C>A	c.(2989-2991)atC>atA	p.I997I	DHX38_ENST00000536867.1_Silent_p.I309I	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	997					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.I997I(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GTGATCAAATCCGGGAGAAGT	0.493																																					Melanoma(97;711 1442 7855 13832 28836)	uc002fcb.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2989-2991)ATC>ATA		DEAH (Asp-Glu-Ala-His) box polypeptide 38							104.0	94.0	97.0					16																	72142152		2198	4300	6498	SO:0001819	synonymous_variant	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72142152C>A	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.2991C>A	16.37:g.72142152C>A						DHX38_uc010vmp.1_Silent_p.I309I	p.I997I	NM_014003	NP_054722	Q92620	PRP16_HUMAN			22	3346	+		Ovarian(137;0.125)	997					B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	ENST00000268482.3	37	c.2991C>A	CCDS10907.1																																																																																				PASS	0.493	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		4	30	4	30	---	---	---	---
MBTPS1	8720	broad.mit.edu	37	16	84104333	84104333	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr16:84104333C>T	ENST00000343411.3	-	13	2137	c.1642G>A	c.(1642-1644)Gcc>Acc	p.A548T	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	548					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.A548T(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TAGGAGAAGGCAACTTCAATG	0.512																																						uc002fhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1642-1644)GCC>ACC		membrane-bound transcription factor site-1							95.0	82.0	87.0					16																	84104333		2200	4300	6500	SO:0001583	missense	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84104333C>T	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1642G>A	16.37:g.84104333C>T	ENSP00000344223:p.Ala548Thr					MBTPS1_uc002fhh.2_Missense_Mutation_p.A52T	p.A548T	NM_003791	NP_003782	Q14703	MBTP1_HUMAN			13	2144	-			548			Lumenal (Potential).		A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	c.1642G>A	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.476722	0.84640	.	.	ENSG00000140943	ENST00000343411	T	0.21361	2.01	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.22898	0.0553	L	0.49640	1.575	0.80722	D	1	B	0.33103	0.397	B	0.24974	0.057	T	0.01401	-1.1364	10	0.36615	T	0.2	-21.2685	20.3932	0.98965	0.0:1.0:0.0:0.0	.	548	Q14703	MBTP1_HUMAN	T	548	ENSP00000344223:A548T	ENSP00000344223:A548T	A	-	1	0	MBTPS1	82661834	1.000000	0.71417	0.879000	0.34478	0.913000	0.54294	7.786000	0.85741	2.824000	0.97209	0.655000	0.94253	GCC		PASS	0.512	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		18	54	18	54	---	---	---	---
KCNG4	93107	broad.mit.edu	37	16	84270969	84270969	+	Nonsense_Mutation	SNP	G	G	T	rs371009755		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr16:84270969G>T	ENST00000308251.4	-	2	191	c.123C>A	c.(121-123)taC>taA	p.Y41*	KCNG4_ENST00000568181.1_Nonsense_Mutation_p.Y41*	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	41					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.Y41*(2)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GCACCCTCCGGTAGTAAAGGC	0.632																																						uc010voc.1																			2	Substitution - Nonsense(2)		lung(2)	breast(3)	3						c.(121-123)TAC>TAA		potassium voltage-gated channel, subfamily G,		G	stop/TYR	0,4400		0,0,2200	36.0	38.0	37.0		123	5.1	1.0	16		37	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	KCNG4	NM_172347.2		0,1,6499	TT,TG,GG		0.0116,0.0,0.0077		41/520	84270969	1,12999	2200	4300	6500	SO:0001587	stop_gained	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84270969G>T	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.123C>A	16.37:g.84270969G>T	ENSP00000312129:p.Tyr41*					KCNG4_uc002fhu.1_Nonsense_Mutation_p.Y41*	p.Y41*	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN			2	244	-			41			Cytoplasmic (Potential).		Q96H24	Nonsense_Mutation	SNP	ENST00000308251.4	37	c.123C>A	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	G	37	6.321878	0.97471	0.0	1.16E-4	ENSG00000168418	ENST00000308251	.	.	.	5.12	5.12	0.69794	.	5.410240	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	17.5478	0.87867	0.0:0.0:1.0:0.0	.	.	.	.	X	41	.	ENSP00000312129:Y41X	Y	-	3	2	KCNG4	82828470	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.327000	0.65881	2.374000	0.81015	0.549000	0.68633	TAC		PASS	0.632	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		10	19	10	19	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	A	rs587782144		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr17:7578457C>A	ENST00000269305.4	-	5	662	c.473G>T	c.(472-474)cGc>cTc	p.R158L	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R158L|TP53_ENST00000445888.2_Missense_Mutation_p.R158L|TP53_ENST00000420246.2_Missense_Mutation_p.R158L|TP53_ENST00000359597.4_Missense_Mutation_p.R158L|TP53_ENST00000455263.2_Missense_Mutation_p.R158L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCCATGGCGCGGACGCGGGT	0.627		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		244	Substitution - Missense(188)|Deletion - Frameshift(19)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Insertion - In frame(4)|Complex - frameshift(2)	p.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(1)	lung(78)|central_nervous_system(33)|oesophagus(20)|haematopoietic_and_lymphoid_tissue(19)|large_intestine(18)|upper_aerodigestive_tract(12)|stomach(12)|urinary_tract(9)|prostate(7)|kidney(6)|liver(6)|breast(5)|bone(4)|soft_tissue(3)|ovary(3)|pancreas(3)|thyroid(2)|biliary_tract(2)|vulva(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM994513	TP53	M		c.(472-474)CGC>CTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							49.0	51.0	50.0					17																	7578457		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578457C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.473G>T	17.37:g.7578457C>A	ENSP00000269305:p.Arg158Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R158L|TP53_uc002gih.2_Missense_Mutation_p.R158L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26L|TP53_uc010cng.1_Missense_Mutation_p.R26L|TP53_uc002gii.1_Missense_Mutation_p.R26L|TP53_uc010cnh.1_Missense_Mutation_p.R158L|TP53_uc010cni.1_Missense_Mutation_p.R158L|TP53_uc002gij.2_Missense_Mutation_p.R158L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65L|TP53_uc002gio.2_Missense_Mutation_p.R26L|TP53_uc010vug.1_Missense_Mutation_p.R119L	p.R158L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	667	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	158		R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.473G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538284	0.65085	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110116	0.64402	D	0.000010	D	0.99869	0.9938	M	0.92026	3.265	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;0.999;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.988;0.981;0.996;0.99;0.986;1.0	D	0.96498	0.9369	10	0.87932	D	0	-10.4795	12.6491	0.56751	0.0:0.9196:0.0:0.0804	.	119;158;158;65;158;158;158	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	158;158;158;158;158;158;147;65;26;65;26;158	ENSP00000410739:R158L;ENSP00000352610:R158L;ENSP00000269305:R158L;ENSP00000398846:R158L;ENSP00000391127:R158L;ENSP00000391478:R158L;ENSP00000425104:R26L;ENSP00000423862:R65L;ENSP00000424104:R158L	ENSP00000269305:R158L	R	-	2	0	TP53	7519182	1.000000	0.71417	0.034000	0.17996	0.175000	0.22909	7.775000	0.85489	1.514000	0.48869	-0.140000	0.14226	CGC		PASS	0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	17	10	17	---	---	---	---
KRBA2	124751	broad.mit.edu	37	17	8272906	8272906	+	Missense_Mutation	SNP	C	C	A	rs545744148		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr17:8272906C>A	ENST00000331336.2	-	2	1030	c.1025G>T	c.(1024-1026)tGg>tTg	p.W342L	RP11-849F2.7_ENST00000582471.1_3'UTR|KRBA2_ENST00000396267.1_Missense_Mutation_p.W260L|RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.5_ENST00000580537.1_RNA	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	342	Integrase catalytic. {ECO:0000255|PROSITE-ProRule:PRU00457}.				DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)	p.W342L(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TAGGTCTGGCCACAACTCATT	0.463																																						uc002glf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1024-1026)TGG>TTG		KRAB-A domain containing 2							68.0	66.0	67.0					17																	8272906		2203	4300	6503	SO:0001583	missense	124751				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding	g.chr17:8272906C>A	BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"""-"""	26989	protein-coding gene	gene with protein product			"""KRAB A domain containing 2"""			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.1025G>T	17.37:g.8272906C>A	ENSP00000328017:p.Trp342Leu					KRBA2_uc002glg.1_Missense_Mutation_p.W259L	p.W342L	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN			2	1031	-			342			Integrase catalytic.		Q8IYY0	Missense_Mutation	SNP	ENST00000331336.2	37	c.1025G>T	CCDS11141.1	.	.	.	.	.	.	.	.	.	.	c	9.978	1.227458	0.22542	.	.	ENSG00000184619	ENST00000396267;ENST00000331336	T;T	0.36340	1.26;1.26	3.02	3.02	0.34903	Integrase, catalytic core (1);Ribonuclease H-like (1);	.	.	.	.	T	0.43433	0.1247	L	0.54323	1.7	0.28535	N	0.912373	P	0.46512	0.879	P	0.56474	0.799	T	0.18366	-1.0339	9	0.10377	T	0.69	.	9.7915	0.40708	0.0:1.0:0.0:0.0	.	342	Q6ZNG9	KRBA2_HUMAN	L	260;342	ENSP00000379565:W260L;ENSP00000328017:W342L	ENSP00000328017:W342L	W	-	2	0	KRBA2	8213631	0.994000	0.37717	1.000000	0.80357	0.108000	0.19459	1.479000	0.35453	2.005000	0.58758	0.650000	0.86243	TGG		PASS	0.463	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597		4	22	4	22	---	---	---	---
GAS7	8522	broad.mit.edu	37	17	9828857	9828857	+	Silent	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr17:9828857C>T	ENST00000432992.2	-	11	1234	c.1074G>A	c.(1072-1074)gaG>gaA	p.E358E	GAS7_ENST00000396115.2_Intron|GAS7_ENST00000437099.2_Silent_p.E294E|GAS7_ENST00000323816.4_Silent_p.E298E|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000585266.1_Silent_p.E298E|GAS7_ENST00000579158.1_Silent_p.E294E|GAS7_ENST00000542249.1_Silent_p.E294E|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000580865.1_Silent_p.E218E	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	358					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E358E(1)|p.E218E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TCAGCTTGATCTCCAGCTGCT	0.602			T	MLL	AML*						OREG0024170	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002gmg.1				Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		2	Substitution - coding silent(2)		lung(2)	lung(1)|pancreas(1)	2						c.(1072-1074)GAG>GAA		growth arrest-specific 7 isoform c							214.0	160.0	178.0					17																	9828857		2203	4300	6503	SO:0001819	synonymous_variant	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9828857C>T	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.1074G>A	17.37:g.9828857C>T			OREG0024170	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	659	GAS7_uc010vvc.1_Silent_p.E172E|GAS7_uc002gmh.1_Silent_p.E218E|GAS7_uc010vvd.1_Silent_p.E310E|GAS7_uc002gmi.2_Silent_p.E294E|GAS7_uc002gmj.1_Silent_p.E298E|GAS7_uc010coh.1_Silent_p.E298E	p.E358E	NM_201433	NP_958839	O60861	GAS7_HUMAN			11	1235	-			358			Potential.		A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Silent	SNP	ENST00000432992.2	37	c.1074G>A	CCDS11152.1																																																																																				PASS	0.602	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		27	20	27	20	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10439902	10439902	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr17:10439902T>C	ENST00000245503.5	-	17	2303	c.1919A>G	c.(1918-1920)aAg>aGg	p.K640R	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.K640R|MYH2_ENST00000397183.2_Missense_Mutation_p.K640R|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	640	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.K640R(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ACCACCTTTCTTGGCCCCTCC	0.418																																						uc010coi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(1918-1920)AAG>AGG		myosin heavy chain IIa							45.0	44.0	44.0					17																	10439902		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10439902T>C		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1919A>G	17.37:g.10439902T>C	ENSP00000245503:p.Lys640Arg					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.K640R|MYH2_uc010coj.2_Missense_Mutation_p.K640R	p.K640R	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			17	2047	-			640			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.1919A>G	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.399649	0.42512	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	D;D;D	0.87650	-2.28;-2.28;-2.28	4.99	4.99	0.66335	Myosin head, motor domain (2);	0.000000	0.41097	U	0.000942	D	0.86205	0.5877	M	0.70275	2.135	0.36201	D	0.850755	B;B	0.09022	0.002;0.002	B;B	0.24541	0.008;0.054	D	0.85224	0.1028	10	0.29301	T	0.29	.	14.012	0.64503	0.0:0.0:0.0:1.0	.	640;640	Q567P6;Q9UKX2	.;MYH2_HUMAN	R	640	ENSP00000433944:K640R;ENSP00000245503:K640R;ENSP00000380367:K640R	ENSP00000245503:K640R	K	-	2	0	MYH2	10380627	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	4.101000	0.57769	2.096000	0.63516	0.459000	0.35465	AAG		PASS	0.418	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		7	13	7	13	---	---	---	---
NATD1	256302	broad.mit.edu	37	17	21147437	21147437	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr17:21147437G>A	ENST00000468196.1	-	2	351	c.206C>T	c.(205-207)tCg>tTg	p.S69L	C17orf103_ENST00000399011.2_Silent_p.I68I			Q8N6N6	NATD1_HUMAN		0	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.							p.S69L(1)|p.I68I(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						GGTGCTTGGCGATGCCACGCC	0.672																																						uc010vzx.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)		0						c.(205-207)ATC>ATT		transcript expressed during hematopoiesis 2							37.0	41.0	40.0					17																	21147437		2133	4215	6348	SO:0001583	missense	256302							g.chr17:21147437G>A																												ENST00000468196.1:c.206C>T	17.37:g.21147437G>A	ENSP00000457007:p.Ser69Leu						p.I69I	NM_152914	NP_690878	Q8N6N6	GTL3B_HUMAN			3	209	-			69					A8MWQ7|B3KX70	Silent	SNP	ENST00000468196.1	37	c.207C>T																																																																																					PASS	0.672	C17orf103-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253275.4			6	13	6	13	---	---	---	---
KCNJ12	3768	broad.mit.edu	37	17	21319497	21319497	+	Silent	SNP	C	C	T	rs139358757	byFrequency	TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr17:21319497C>T	ENST00000583088.1	+	3	1738	c.843C>T	c.(841-843)ttC>ttT	p.F281F	KCNJ12_ENST00000331718.5_Silent_p.F281F	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	281					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.F281F(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GCCCGCTCTTCGGCATCAGCC	0.607										Prostate(3;0.18)																												uc002gyv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(841-843)TTC>TTT		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)						99.0	84.0	89.0					17																	21319497		2203	4300	6503	SO:0001819	synonymous_variant	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21319497C>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.843C>T	17.37:g.21319497C>T		Prostate(3;0.18)					p.F281F	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1548	+			281			Cytoplasmic (By similarity).		O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	c.843C>T	CCDS11219.1																																																																																				PASS	0.607	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		10	31	10	31	---	---	---	---
SLC13A2	9058	broad.mit.edu	37	17	26817737	26817737	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr17:26817737G>A	ENST00000314669.5	+	4	807	c.387G>A	c.(385-387)atG>atA	p.M129I	SLC13A2_ENST00000537681.1_Missense_Mutation_p.M58I|SLC13A2_ENST00000444914.3_Missense_Mutation_p.M178I|SLC13A2_ENST00000545060.1_Missense_Mutation_p.M86I	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	129					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)	p.M178I(1)|p.M129I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TGGGCTTCATGCTGGTCACGG	0.592																																						uc002hbh.2																			2	Substitution - Missense(2)		lung(2)		0						c.(385-387)ATG>ATA		solute carrier family 13, member 2 isoform b	Succinic acid(DB00139)						146.0	106.0	120.0					17																	26817737		2203	4300	6503	SO:0001583	missense	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26817737G>A	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.387G>A	17.37:g.26817737G>A	ENSP00000316202:p.Met129Ile					SLC13A2_uc010wal.1_Missense_Mutation_p.M86I|SLC13A2_uc010wam.1_Missense_Mutation_p.M85I|SLC13A2_uc010wan.1_Missense_Mutation_p.M178I|SLC13A2_uc010wao.1_Missense_Mutation_p.M86I|SLC13A2_uc002hbi.2_Missense_Mutation_p.M58I	p.M129I	NM_003984	NP_003975	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	4	454	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		129			Helical; (Potential).		B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	ENST00000314669.5	37	c.387G>A	CCDS11231.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.975179	0.92919	.	.	ENSG00000007216	ENST00000314669;ENST00000444914;ENST00000545060;ENST00000541739;ENST00000537681	T;T;T;T	0.02944	4.1;4.1;4.1;4.1	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.20820	0.0501	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.999	D;D;D;D;D	0.83275	0.996;0.99;0.985;0.994;0.985	T	0.01456	-1.1350	10	0.56958	D	0.05	-2.3235	18.9888	0.92783	0.0:0.0:1.0:0.0	.	86;178;85;58;129	F5GWV6;E7ETH5;B4E1M6;G3V1L2;Q13183	.;.;.;.;S13A2_HUMAN	I	129;178;86;85;58	ENSP00000316202:M129I;ENSP00000392411:M178I;ENSP00000441935:M86I;ENSP00000440802:M58I	ENSP00000316202:M129I	M	+	3	0	SLC13A2	23841864	1.000000	0.71417	0.998000	0.56505	0.884000	0.51177	9.637000	0.98443	2.485000	0.83878	0.650000	0.86243	ATG		PASS	0.592	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984		15	61	15	61	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27009836	27009836	+	Silent	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr17:27009836C>T	ENST00000314616.6	+	14	1972	c.1689C>T	c.(1687-1689)ccC>ccT	p.P563P	SUPT6H_ENST00000347486.4_Silent_p.P563P	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	563	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P563P(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AGCAGTTTCCCGCGGAGCCCT	0.592																																						uc002hby.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1687-1689)CCC>CCT		suppressor of Ty 6 homolog							66.0	60.0	62.0					17																	27009836		2203	4300	6503	SO:0001819	synonymous_variant	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27009836C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.1689C>T	17.37:g.27009836C>T						SUPT6H_uc010crt.2_Silent_p.P563P	p.P563P	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN			14	1779	+	Lung NSC(42;0.00431)		563					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	c.1689C>T	CCDS32596.1																																																																																				PASS	0.592	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		12	54	12	54	---	---	---	---
UTP6	55813	broad.mit.edu	37	17	30213082	30213082	+	Splice_Site	SNP	T	T	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr17:30213082T>G	ENST00000261708.4	-	9	759		c.e9-2		UTP6_ENST00000490218.2_Splice_Site|CTC-542B22.2_ENST00000583236.1_lincRNA	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)						rRNA processing (GO:0006364)	nucleolus (GO:0005730)		p.?(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				AGGATTCTCCTAAAGAGTGTT	0.368																																						uc002hgr.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e9-1		hepatocellular carcinoma-associated antigen 66							83.0	86.0	85.0					17																	30213082		2203	4300	6503	SO:0001630	splice_region_variant	55813				rRNA processing	nucleolus	binding	g.chr17:30213082T>G	AF116631	CCDS11269.1	17q11.2	2010-06-24	2006-05-16	2006-05-16	ENSG00000108651	ENSG00000108651			18279	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated antigen 66"""		"""chromosome 17 open reading frame 40"""	C17orf40		10843809, 16138909	Standard	NM_018428		Approved	HCA66	uc002hgr.3	Q9NYH9	OTTHUMG00000132815	ENST00000261708.4:c.622-2A>C	17.37:g.30213082T>G						UTP6_uc002hgq.2_Splice_Site_p.E24_splice|UTP6_uc010cst.2_Splice_Site_p.E57_splice|UTP6_uc010wbw.1_Splice_Site_p.E208_splice	p.E208_splice	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN			9	705	-		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)						Q8IX96|Q96BL2|Q9NQ91	Splice_Site	SNP	ENST00000261708.4	37	c.622_splice	CCDS11269.1	.	.	.	.	.	.	.	.	.	.	T	14.09	2.432044	0.43122	.	.	ENSG00000108651	ENST00000261708	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9013	0.63806	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	UTP6	27237195	1.000000	0.71417	0.624000	0.29186	0.380000	0.30137	6.231000	0.72307	2.098000	0.63641	0.450000	0.29827	.		PASS	0.368	UTP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256265.2	NM_018428	Intron	38	45	38	45	---	---	---	---
CCL7	6354	broad.mit.edu	37	17	32598747	32598747	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr17:32598747G>A	ENST00000378569.2	+	3	296	c.226G>A	c.(226-228)Gct>Act	p.A76T	CCL7_ENST00000394627.1_3'UTR|CCL7_ENST00000394630.3_Silent_p.V36V|CCL7_ENST00000200307.4_Missense_Mutation_p.A86T	NM_006273.2	NP_006264.2	P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7	76					cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular response to ethanol (GO:0071361)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|monocyte chemotaxis (GO:0002548)|positive regulation of cell migration (GO:0030335)|positive regulation of natural killer cell chemotaxis (GO:2000503)|regulation of cell shape (GO:0008360)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)	p.A76T(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GGAGATCTGTGCTGACCCCAC	0.483																																						uc002hhz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(226-228)GCT>ACT		chemokine (C-C motif) ligand 7 precursor							85.0	81.0	82.0					17																	32598747		2203	4300	6503	SO:0001583	missense	6354				cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding	g.chr17:32598747G>A	AF043338	CCDS11278.1	17q11.2-q12	2013-02-25	2002-08-22	2002-08-23	ENSG00000108688	ENSG00000108688		"""Chemokine ligands"", ""Endogenous ligands"""	10634	protein-coding gene	gene with protein product	"""monocyte chemoattractant protein 3"", ""monocyte chemotactic protein 3"""	158106	"""small inducible cytokine A7 (monocyte chemotactic protein 3)"""	SCYA6, SCYA7		8461011	Standard	NM_006273		Approved	MCP-3, NC28, FIC, MARC, MCP3	uc002hhz.4	P80098	OTTHUMG00000132889	ENST00000378569.2:c.226G>A	17.37:g.32598747G>A	ENSP00000367832:p.Ala76Thr					CCL7_uc010ctf.2_RNA	p.A76T	NM_006273	NP_006264	P80098	CCL7_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.155)	3	296	+	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)	76					Q569J6	Missense_Mutation	SNP	ENST00000378569.2	37	c.226G>A	CCDS11278.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.749102	0.49257	.	.	ENSG00000108688	ENST00000378569;ENST00000200307	.	.	.	4.44	3.46	0.39613	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.000000	0.50627	D	0.000106	T	0.62146	0.2404	.	.	.	0.30204	N	0.798314	D	0.64830	0.994	D	0.64237	0.923	T	0.63229	-0.6684	8	0.59425	D	0.04	.	10.5187	0.44905	0.0:0.1966:0.8034:0.0	.	76	P80098	CCL7_HUMAN	T	86;76	.	ENSP00000200307:A76T	A	+	1	0	CCL7	29622860	1.000000	0.71417	0.999000	0.59377	0.049000	0.14656	1.242000	0.32755	1.213000	0.43380	0.655000	0.94253	GCT		PASS	0.483	CCL7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256386.2	NM_006273		19	77	19	77	---	---	---	---
PEX12	5193	broad.mit.edu	37	17	33902880	33902880	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr17:33902880C>A	ENST00000225873.4	-	3	1608	c.1001G>T	c.(1000-1002)aGg>aTg	p.R334M	RP11-1094M14.11_ENST00000592381.1_lincRNA|SNORD7_ENST00000384567.1_RNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	334					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)	p.R334M(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTGGTGACTCCTCACATAATG	0.448																																						uc002hjp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1000-1002)AGG>ATG		peroxisomal biogenesis factor 12							193.0	173.0	180.0					17																	33902880		2203	4300	6503	SO:0001583	missense	5193				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	g.chr17:33902880C>A	U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.1001G>T	17.37:g.33902880C>A	ENSP00000225873:p.Arg334Met						p.R334M	NM_000286	NP_000277	O00623	PEX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	1617	-			334			Cytoplasmic (Potential).|RING-type; degenerate.		B2R6M2	Missense_Mutation	SNP	ENST00000225873.4	37	c.1001G>T	CCDS11296.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951495	0.53186	.	.	ENSG00000108733	ENST00000225873	D	0.86297	-2.1	5.64	3.63	0.41609	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.048037	0.85682	D	0.000000	T	0.81912	0.4923	L	0.39245	1.2	0.39368	D	0.966043	P	0.46220	0.874	B	0.43990	0.438	T	0.82566	-0.0393	10	0.66056	D	0.02	-8.823	7.9175	0.29827	0.0:0.6891:0.0:0.3109	.	334	O00623	PEX12_HUMAN	M	334	ENSP00000225873:R334M	ENSP00000225873:R334M	R	-	2	0	PEX12	30926993	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.482000	0.60257	1.388000	0.46506	0.655000	0.94253	AGG		PASS	0.448	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286		6	92	6	92	---	---	---	---
FBXL20	84961	broad.mit.edu	37	17	37425100	37425100	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr17:37425100C>A	ENST00000264658.6	-	12	1173	c.913G>T	c.(913-915)Gac>Tac	p.D305Y	FBXL20_ENST00000583610.1_Missense_Mutation_p.D305Y|FBXL20_ENST00000577399.1_Missense_Mutation_p.D307Y|FBXL20_ENST00000394294.3_Missense_Mutation_p.D273Y	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	305					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)		p.D305Y(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			TCTTCCAGGTCCATCTTTTCA	0.318																																						uc010wed.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(913-915)GAC>TAC		F-box and leucine-rich repeat protein 20							125.0	122.0	123.0					17																	37425100		2203	4300	6503	SO:0001583	missense	84961					cytoplasm		g.chr17:37425100C>A	BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"""F-boxes / Leucine-rich repeats"""	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.913G>T	17.37:g.37425100C>A	ENSP00000264658:p.Asp305Tyr					FBXL20_uc002hrt.2_Missense_Mutation_p.D305Y|FBXL20_uc010cvu.2_Missense_Mutation_p.D273Y	p.D305Y	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	LUAD - Lung adenocarcinoma(14;0.146)		12	1134	-			305			LRR 9.		A8K729|Q38J52	Missense_Mutation	SNP	ENST00000264658.6	37	c.913G>T	CCDS32640.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644830	0.87859	.	.	ENSG00000108306	ENST00000264658;ENST00000394294	T;T	0.60171	0.21;0.21	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.82527	0.5056	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.84623	0.0685	10	0.32370	T	0.25	.	18.3623	0.90379	0.0:1.0:0.0:0.0	.	273;305	Q96IG2-2;Q96IG2	.;FXL20_HUMAN	Y	305;273	ENSP00000264658:D305Y;ENSP00000377832:D273Y	ENSP00000264658:D305Y	D	-	1	0	FBXL20	34678626	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.747000	0.85070	2.420000	0.82092	0.650000	0.86243	GAC		PASS	0.318	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444315.2	NM_032875		39	46	39	46	---	---	---	---
MED24	9862	broad.mit.edu	37	17	38209752	38209752	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr17:38209752C>A	ENST00000394128.2	-	2	181	c.100G>T	c.(100-102)Gga>Tga	p.G34*	MED24_ENST00000479829.1_5'UTR|MED24_ENST00000501516.3_Nonsense_Mutation_p.G34*|MED24_ENST00000394127.2_Nonsense_Mutation_p.G34*|MED24_ENST00000394126.1_Nonsense_Mutation_p.G59*|MED24_ENST00000356271.3_Nonsense_Mutation_p.G34*	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	34					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.G34*(1)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					CAGGTGGCTCCTTTAGGAAAG	0.463																																						uc002htt.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(100-102)GGA>TGA		mediator complex subunit 24 isoform 1							218.0	228.0	224.0					17																	38209752		2203	4300	6503	SO:0001587	stop_gained	9862				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:38209752C>A	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.100G>T	17.37:g.38209752C>A	ENSP00000377686:p.Gly34*					MED24_uc010wet.1_RNA|MED24_uc002hts.2_Nonsense_Mutation_p.G59*|MED24_uc002htu.2_Nonsense_Mutation_p.G34*|MED24_uc010cwn.2_Nonsense_Mutation_p.G34*|MED24_uc010weu.1_Translation_Start_Site|MED24_uc010wev.1_Intron|MED24_uc010wew.1_Intron|MED24_uc010wex.1_5'Flank|MED24_uc010wfa.1_5'Flank|MED24_uc010wfb.1_Nonsense_Mutation_p.G59*|MED24_uc010wfc.1_5'Flank	p.G34*	NM_014815	NP_055630	O75448	MED24_HUMAN			2	413	-	Colorectal(19;0.000442)		34					A8K4S5|B3KMR9|Q14143|Q9NNY5	Nonsense_Mutation	SNP	ENST00000394128.2	37	c.100G>T	CCDS11359.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207770	0.95033	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000394127;ENST00000536318;ENST00000543759;ENST00000537674;ENST00000535508;ENST00000501516;ENST00000428757	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.3622	19.5228	0.95192	0.0:1.0:0.0:0.0	.	.	.	.	X	34;34;34;34;34;8;8;8;8;34	.	ENSP00000348610:G34X	G	-	1	0	MED24	35463278	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.888000	0.63164	2.710000	0.92621	0.561000	0.74099	GGA		PASS	0.463	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		8	337	8	337	---	---	---	---
KRT20	54474	broad.mit.edu	37	17	39034579	39034579	+	Silent	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr17:39034579G>T	ENST00000167588.3	-	6	998	c.957C>A	c.(955-957)gcC>gcA	p.A319A		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	319	Coil 2.|Rod.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)	p.A319A(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TGCTGTAACGGGCCTTGGTCT	0.483																																						uc002hvl.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|kidney(1)|skin(1)	3						c.(955-957)GCC>GCA		keratin 20							112.0	95.0	101.0					17																	39034579		2203	4300	6503	SO:0001819	synonymous_variant	54474				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39034579G>T	BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.957C>A	17.37:g.39034579G>T							p.A319A	NM_019010	NP_061883	P35900	K1C20_HUMAN			6	999	-		Breast(137;0.000301)|Ovarian(249;0.15)	319			Rod.|Coil 2.		B2R6W7	Silent	SNP	ENST00000167588.3	37	c.957C>A	CCDS11379.1																																																																																				PASS	0.483	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2			47	56	47	56	---	---	---	---
TMUB2	79089	broad.mit.edu	37	17	42272026	42272026	+	IGR	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr17:42272026C>A	ENST00000587989.1	+	0	1969				ATXN7L3_ENST00000389384.4_Nonsense_Mutation_p.E252*|ATXN7L3_ENST00000454077.2_Nonsense_Mutation_p.E259*|ATXN7L3_ENST00000593073.1_5'UTR			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2							integral component of membrane (GO:0016021)		p.E252*(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AGGGAGCTCTCGACCTCTGGA	0.557																																						uc002iga.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(754-756)GAG>TAG		ataxin 7-like 3 isoform b							47.0	50.0	49.0					17																	42272026		1997	4154	6151	SO:0001628	intergenic_variant	56970				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding	g.chr17:42272026C>A		CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4			17.37:g.42272026C>A						ATXN7L3_uc010wiv.1_Nonsense_Mutation_p.E34*|ATXN7L3_uc002ifz.2_Nonsense_Mutation_p.E259*	p.E252*	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	11	845	-		Breast(137;0.00765)|Prostate(33;0.0181)	252			SCA7.		B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Nonsense_Mutation	SNP	ENST00000587989.1	37	c.754G>T	CCDS54134.1	.	.	.	.	.	.	.	.	.	.	C	34	5.300648	0.95601	.	.	ENSG00000087152	ENST00000454077;ENST00000389384;ENST00000541672	.	.	.	4.75	3.78	0.43462	.	0.204144	0.44483	D	0.000451	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	11.9009	0.52682	0.0:0.9138:0.0:0.0862	.	.	.	.	X	259;252;34	.	ENSP00000374035:E252X	E	-	1	0	ATXN7L3	39627552	1.000000	0.71417	0.980000	0.43619	0.837000	0.47467	6.033000	0.70925	1.253000	0.44018	0.561000	0.74099	GAG		PASS	0.557	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	NM_177441		4	64	4	64	---	---	---	---
C17orf104	284071	broad.mit.edu	37	17	42744414	42744414	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr17:42744414C>T	ENST00000409122.2	+	5	1277	c.1135C>T	c.(1135-1137)Cag>Tag	p.Q379*	C17orf104_ENST00000359945.3_Nonsense_Mutation_p.Q379*|C17orf104_ENST00000409464.1_Nonsense_Mutation_p.Q213*	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	379								p.Q379*(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						GCCAGCGAATCAGAAAAAAAT	0.403																																						uc010czv.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(1135-1137)CAG>TAG		hypothetical protein LOC284071							42.0	42.0	42.0					17																	42744414		2203	4300	6503	SO:0001587	stop_gained	284071							g.chr17:42744414C>T		CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.1135C>T	17.37:g.42744414C>T	ENSP00000386452:p.Gln379*					C17orf104_uc002igy.1_Nonsense_Mutation_p.Q213*|C17orf104_uc002igz.3_Nonsense_Mutation_p.Q213*|C17orf104_uc010wja.1_RNA|C17orf104_uc002iha.2_Nonsense_Mutation_p.Q213*	p.Q379*	NM_001145080	NP_001138552	A2RUB1	CQ104_HUMAN			5	1135	+			379					B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Nonsense_Mutation	SNP	ENST00000409122.2	37	c.1135C>T	CCDS45703.2	.	.	.	.	.	.	.	.	.	.	C	37	6.042818	0.97231	.	.	ENSG00000180336	ENST00000359945;ENST00000409122;ENST00000409464	.	.	.	5.76	5.76	0.90799	.	0.181390	0.39274	N	0.001404	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-16.4442	20.3431	0.98773	0.0:1.0:0.0:0.0	.	.	.	.	X	379;379;213	.	ENSP00000353028:Q379X	Q	+	1	0	C17orf104	40099940	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.764000	0.55264	2.880000	0.98712	0.650000	0.86243	CAG		PASS	0.403	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329171.2	NM_001145080		38	39	38	39	---	---	---	---
CRHR1	1394	broad.mit.edu	37	17	43912064	43912064	+	Silent	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr17:43912064C>T	ENST00000398285.3	+	14	1269	c.1269C>T	c.(1267-1269)gcC>gcT	p.A423A	CRHR1_ENST00000577353.1_Silent_p.A380A|CRHR1_ENST00000293493.7_Silent_p.A219A|CRHR1_ENST00000339069.5_Missense_Mutation_p.P248L|CRHR1_ENST00000352855.5_Silent_p.A354A|CRHR1_ENST00000314537.5_Silent_p.A394A	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	423					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)	p.A394A(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TGGCCCGTGCCATGTCCATCC	0.632																																					Ovarian(110;57 1568 10207 38216 49865)	uc010dap.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)	3						c.(1267-1269)GCC>GCT		corticotropin releasing hormone receptor 1							69.0	83.0	78.0					17																	43912064		2196	4296	6492	SO:0001819	synonymous_variant	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43912064C>T	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.1269C>T	17.37:g.43912064C>T						CRHR1_uc010wjx.1_Silent_p.A219A|CRHR1_uc002ijp.2_Missense_Mutation_p.P248L|CRHR1_uc002ijm.2_Silent_p.A394A|CRHR1_uc002ijn.2_Silent_p.A354A|CRHR1_uc010dar.2_Silent_p.A380A|CRHR1_uc010dao.2_Silent_p.A293A|CRHR1_uc010daq.2_Silent_p.A219A	p.A423A	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	14	1534	+	Colorectal(2;0.0416)		423			Cytoplasmic (Potential).		B4DIE9|Q13008|Q4QRJ1|Q9UK64	Silent	SNP	ENST00000398285.3	37	c.1269C>T	CCDS45712.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386011	0.82902	.	.	ENSG00000120088	ENST00000339069	T	0.50001	0.76	5.24	4.26	0.50523	.	.	.	.	.	T	0.38692	0.1050	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.30031	-0.9992	8	0.87932	D	0	.	8.4362	0.32789	0.0:0.8199:0.0:0.1801	.	248	B4DMR5	.	L	248	ENSP00000340522:P248L	ENSP00000340522:P248L	P	+	2	0	CRHR1	41267845	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	2.661000	0.46758	1.183000	0.42943	0.555000	0.69702	CCA		PASS	0.632	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			28	22	28	22	---	---	---	---
MAPT	4137	broad.mit.edu	37	17	44101454	44101454	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr17:44101454G>A	ENST00000571987.1	+	13	2194	c.2194G>A	c.(2194-2196)Ggc>Agc	p.G732S	MAPT_ENST00000344290.5_Missense_Mutation_p.G750S|MAPT_ENST00000535772.1_Missense_Mutation_p.G384S|MAPT_ENST00000574436.1_Missense_Mutation_p.G415S|MAPT_ENST00000351559.5_Missense_Mutation_p.G415S|MAPT_ENST00000420682.2_Missense_Mutation_p.G386S|MAPT_ENST00000340799.5_Missense_Mutation_p.G386S|MAPT_ENST00000415613.2_Missense_Mutation_p.G750S|MAPT_ENST00000446361.3_Missense_Mutation_p.G357S|MAPT_ENST00000431008.3_Missense_Mutation_p.G384S|MAPT_ENST00000262410.5_Missense_Mutation_p.G732S|MAPT_ENST00000576518.1_Missense_Mutation_p.G315S|MAPT_ENST00000347967.5_Missense_Mutation_p.G290S|MAPT_ENST00000334239.8_Missense_Mutation_p.G326S			P10636	TAU_HUMAN	microtubule-associated protein tau	732					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)	p.G732S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	CTCCTCCACCGGCAGCATCGA	0.637																																						uc002ijr.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2194-2196)GGC>AGC		microtubule-associated protein tau isoform 1							117.0	101.0	107.0					17																	44101454		2203	4300	6503	SO:0001583	missense	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44101454G>A	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.2194G>A	17.37:g.44101454G>A	ENSP00000458742:p.Gly732Ser					MAPT_uc010dau.2_Missense_Mutation_p.G750S|MAPT_uc002ijs.3_Missense_Mutation_p.G415S|MAPT_uc002ijx.3_Missense_Mutation_p.G386S|MAPT_uc002ijt.3_Missense_Mutation_p.G357S|MAPT_uc002iju.3_Missense_Mutation_p.G326S|MAPT_uc002ijv.3_Missense_Mutation_p.G333S	p.G732S	NM_016835	NP_058519	P10636	TAU_HUMAN			14	2514	+		Melanoma(429;0.216)	732					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	37	c.2194G>A	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	G	34	5.294877	0.95546	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000351559;ENST00000340799;ENST00000535772;ENST00000347967;ENST00000354326;ENST00000446361;ENST00000334239;ENST00000420682;ENST00000415613;ENST00000431008	T;T;T;T;T;T;T;T	0.41758	1.2;1.24;1.3;1.25;1.48;0.99;1.25;1.2	4.57	4.57	0.56435	.	0.000000	0.41194	D	0.000938	T	0.54046	0.1834	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;0.999;0.999	T	0.58194	-0.7679	10	0.62326	D	0.03	-14.5296	15.9429	0.79771	0.0:0.0:1.0:0.0	.	750;386;333;326;357;415;732	P10636-9;P10636-7;F8WAB2;P10636-2;P10636-6;P10636-8;P10636	.;.;.;.;.;.;TAU_HUMAN	S	750;732;415;386;384;290;333;326;357;386;750;238	ENSP00000340820:G750S;ENSP00000262410:G732S;ENSP00000303214:G415S;ENSP00000340438:G386S;ENSP00000443028:G384S;ENSP00000302706:G290S;ENSP00000413056:G386S;ENSP00000410838:G750S	ENSP00000262410:G732S	G	+	1	0	MAPT	41457299	1.000000	0.71417	0.982000	0.44146	0.958000	0.62258	9.869000	0.99810	2.097000	0.63578	0.655000	0.94253	GGC		PASS	0.637	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		45	44	45	44	---	---	---	---
HOXB9	3219	broad.mit.edu	37	17	46703155	46703155	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr17:46703155T>G	ENST00000311177.5	-	1	684	c.477A>C	c.(475-477)aaA>aaC	p.K159N	HOXB7_ENST00000567101.2_Intron|HOXB9_ENST00000550387.1_Intron|HOXB-AS4_ENST00000480386.1_RNA	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	159					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|embryonic skeletal system development (GO:0048706)|mammary gland development (GO:0030879)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.K159N(1)		breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						CTTCGCAAATTTTATTGTCCC	0.567																																						uc002inx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(475-477)AAA>AAC		homeobox B9							61.0	68.0	66.0					17																	46703155		2203	4300	6503	SO:0001583	missense	3219				canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46703155T>G		CCDS11534.1	17q21.32	2011-06-20	2005-12-22		ENSG00000170689	ENSG00000170689		"""Homeoboxes / ANTP class : HOXL subclass"""	5120	protein-coding gene	gene with protein product		142964	"""homeo box B9"""	HOX2E, HOX2		1973146, 1358459	Standard	NM_024017		Approved		uc002inx.3	P17482	OTTHUMG00000159907	ENST00000311177.5:c.477A>C	17.37:g.46703155T>G	ENSP00000309439:p.Lys159Asn						p.K159N	NM_024017	NP_076922	P17482	HXB9_HUMAN			1	681	-			159					B2RDB7|Q9H1I1	Missense_Mutation	SNP	ENST00000311177.5	37	c.477A>C	CCDS11534.1	.	.	.	.	.	.	.	.	.	.	T	10.49	1.364687	0.24684	.	.	ENSG00000170689	ENST00000311177	D	0.93659	-3.26	4.63	3.52	0.40303	Hox9, N-terminal activation domain (1);Homeodomain-like (1);	0.053603	0.64402	D	0.000001	D	0.89649	0.6776	L	0.53729	1.69	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.83074	-0.0141	10	0.19590	T	0.45	.	11.4453	0.50120	0.0:0.0:0.1515:0.8485	.	159	P17482	HXB9_HUMAN	N	159	ENSP00000309439:K159N	ENSP00000309439:K159N	K	-	3	2	HOXB9	44058154	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.541000	0.60670	0.686000	0.31488	0.454000	0.30748	AAA		PASS	0.567	HOXB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358101.2			18	58	18	58	---	---	---	---
KIF2B	84643	broad.mit.edu	37	17	51900675	51900675	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr17:51900675C>A	ENST00000268919.4	+	1	437	c.281C>A	c.(280-282)cCc>cAc	p.P94H		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	94					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)	p.P94H(1)		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						CCGCCCCCGCCCTTATCCCCC	0.572																																						uc002iua.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)	8						c.(280-282)CCC>CAC		kinesin family member 2B							108.0	118.0	115.0					17																	51900675		2203	4300	6503	SO:0001583	missense	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.chr17:51900675C>A	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.281C>A	17.37:g.51900675C>A	ENSP00000268919:p.Pro94His					uc010wna.1_RNA	p.P94H	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	437	+			94					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.281C>A	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	3.216	-0.160670	0.06502	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.75050	-0.9	4.96	1.93	0.25924	.	1.136710	0.06882	N	0.802607	T	0.70298	0.3208	L	0.38175	1.15	0.09310	N	1	P	0.47841	0.901	P	0.45913	0.497	T	0.60444	-0.7262	10	0.72032	D	0.01	.	9.9316	0.41525	0.0:0.7604:0.0:0.2396	.	94	Q8N4N8	KIF2B_HUMAN	H	94;17	ENSP00000268919:P94H	ENSP00000268919:P94H	P	+	2	0	KIF2B	49255674	0.064000	0.20934	0.001000	0.08648	0.000000	0.00434	2.573000	0.46007	0.792000	0.33850	-0.768000	0.03414	CCC		PASS	0.572	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		44	90	44	90	---	---	---	---
KIF2B	84643	broad.mit.edu	37	17	51901022	51901022	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr17:51901022C>G	ENST00000268919.4	+	1	784	c.628C>G	c.(628-630)Caa>Gaa	p.Q210E		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	210					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)	p.Q210E(1)		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						GGAGCCCCCGCAAGAACATCG	0.537																																						uc002iua.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)	8						c.(628-630)CAA>GAA		kinesin family member 2B							73.0	63.0	66.0					17																	51901022		2203	4300	6503	SO:0001583	missense	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.chr17:51901022C>G	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.628C>G	17.37:g.51901022C>G	ENSP00000268919:p.Gln210Glu					uc010wna.1_RNA	p.Q210E	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	784	+			210			Kinesin-motor.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.628C>G	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.110275	0.00032	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.16073	2.37	5.37	4.4	0.53042	Kinesin, motor domain (1);	0.673490	0.13374	N	0.392672	T	0.07143	0.0181	N	0.03608	-0.345	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.21552	-1.0242	10	0.02654	T	1	.	12.7506	0.57306	0.0:0.3338:0.6662:0.0	.	210	Q8N4N8	KIF2B_HUMAN	E	210;133	ENSP00000268919:Q210E	ENSP00000268919:Q210E	Q	+	1	0	KIF2B	49256021	0.006000	0.16342	0.075000	0.20258	0.015000	0.08874	0.415000	0.21181	1.382000	0.46385	-0.165000	0.13383	CAA		PASS	0.537	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		20	39	20	39	---	---	---	---
AKAP1	8165	broad.mit.edu	37	17	55184062	55184062	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr17:55184062G>T	ENST00000337714.3	+	2	1470	c.1237G>T	c.(1237-1239)Gcc>Tcc	p.A413S	AKAP1_ENST00000571629.1_Missense_Mutation_p.A413S|AKAP1_ENST00000572557.1_Missense_Mutation_p.A413S|AKAP1_ENST00000314126.3_Missense_Mutation_p.A413S|AKAP1_ENST00000539273.1_Missense_Mutation_p.A413S	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	413					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A413S(1)		endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GGCAGCTGTTGCCCCGCCGGA	0.622																																						uc002iux.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1237-1239)GCC>TCC		A-kinase anchor protein 1 precursor							54.0	57.0	56.0					17																	55184062		2203	4300	6503	SO:0001583	missense	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55184062G>T	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.1237G>T	17.37:g.55184062G>T	ENSP00000337736:p.Ala413Ser					AKAP1_uc010wnl.1_Missense_Mutation_p.A413S|AKAP1_uc002iuy.2_RNA|AKAP1_uc010dcm.2_Missense_Mutation_p.A413S	p.A413S	NM_003488	NP_003479	Q92667	AKAP1_HUMAN			2	1468	+	Breast(9;5.46e-08)		413					A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	ENST00000337714.3	37	c.1237G>T	CCDS11594.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372261	0.24857	.	.	ENSG00000121057	ENST00000337714;ENST00000314126;ENST00000427138;ENST00000539273	T;T;T	0.18657	2.5;2.2;2.5	5.37	0.00124	0.14045	.	1.242170	0.05220	N	0.508362	T	0.11153	0.0272	N	0.12182	0.205	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.32903	-0.9889	10	0.13108	T	0.6	0.56	7.6686	0.28445	0.4911:0.0:0.5089:0.0	.	413	Q92667	AKAP1_HUMAN	S	413;413;455;413	ENSP00000337736:A413S;ENSP00000314075:A413S;ENSP00000443139:A413S	ENSP00000314075:A413S	A	+	1	0	AKAP1	52539061	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.190000	0.17057	0.073000	0.16731	-0.367000	0.07326	GCC		PASS	0.622	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			12	12	12	12	---	---	---	---
SRSF1	6426	broad.mit.edu	37	17	56084313	56084313	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr17:56084313C>A	ENST00000258962.4	-	1	394	c.186G>T	c.(184-186)gaG>gaT	p.E62D	SRSF1_ENST00000582730.2_Missense_Mutation_p.E62D|RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000585096.1_Missense_Mutation_p.E62D|SRSF1_ENST00000581497.1_5'Flank|SRSF1_ENST00000584773.1_Missense_Mutation_p.E62D	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	62	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E62D(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACCGCGGGTCCTCGAACTCAA	0.597																																						uc002ivi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(184-186)GAG>GAT		splicing factor, arginine/serine-rich 1 isoform							91.0	90.0	90.0					17																	56084313		2203	4300	6503	SO:0001583	missense	6426				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding	g.chr17:56084313C>A		CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10780	protein-coding gene	gene with protein product	"""splicing factor 2"", ""pre-mRNA-splicing factor SF2, P33 subunit"", ""alternate splicing factor"", ""SR splicing factor 1"""	600812	"""splicing factor, arginine/serine-rich 1"""	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.186G>T	17.37:g.56084313C>A	ENSP00000258962:p.Glu62Asp					SFRS1_uc002ivj.2_Missense_Mutation_p.E62D	p.E62D	NM_006924	NP_008855	Q07955	SRSF1_HUMAN		LUAD - Lung adenocarcinoma(1115;0.247)	1	395	-		Colorectal(1115;0.0691)	62			RRM 1.		B2R6Z7|D3DTZ3|Q13809	Missense_Mutation	SNP	ENST00000258962.4	37	c.186G>T	CCDS11600.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.259962	0.39995	.	.	ENSG00000136450	ENST00000258962	T	0.17370	2.28	6.11	5.15	0.70609	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.12092	0.0294	N	0.17922	0.545	0.80722	D	1	B;B	0.17038	0.02;0.02	B;B	0.26693	0.029;0.072	T	0.13845	-1.0494	10	0.28530	T	0.3	.	10.5879	0.45294	0.0:0.852:0.0:0.148	.	94;62	Q59FA2;Q07955	.;SRSF1_HUMAN	D	62	ENSP00000258962:E62D	ENSP00000258962:E62D	E	-	3	2	SRSF1	53439312	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.842000	0.39250	1.607000	0.50170	0.655000	0.94253	GAG		PASS	0.597	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1	NM_006924		46	45	46	45	---	---	---	---
TEX14	56155	broad.mit.edu	37	17	56634390	56634390	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr17:56634390C>A	ENST00000240361.8	-	33	4561	c.4476G>T	c.(4474-4476)caG>caT	p.Q1492H	RP11-112H10.4_ENST00000578022.1_RNA|TEX14_ENST00000584699.1_5'UTR|RP11-112H10.4_ENST00000580589.1_RNA|TEX14_ENST00000389934.3_Missense_Mutation_p.Q1486H|TEX14_ENST00000349033.5_Missense_Mutation_p.Q1446H			Q8IWB6	TEX14_HUMAN	testis expressed 14	1492					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.Q1446H(1)|p.Q1492H(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACAAGTCACTCTGATCCAGCA	0.408																																						uc010dcz.1																			2	Substitution - Missense(2)		lung(2)	stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17						c.(4474-4476)CAG>CAT		testis expressed sequence 14 isoform a							174.0	141.0	153.0					17																	56634390		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56634390C>A	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.4476G>T	17.37:g.56634390C>A	ENSP00000240361:p.Gln1492His					TEX14_uc002iwr.1_Missense_Mutation_p.Q1486H|TEX14_uc002iws.1_Missense_Mutation_p.Q1446H|TEX14_uc010dda.1_Missense_Mutation_p.Q1226H	p.Q1492H	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN			33	4594	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1492					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.4476G>T	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231805	0.79688	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.25749	1.78;1.78;1.78	5.53	5.53	0.82687	.	0.000000	0.52532	D	0.000062	T	0.47691	0.1459	L	0.59436	1.845	0.34886	D	0.74506	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.85130	0.993;0.971;0.997	T	0.57613	-0.7781	10	0.87932	D	0	-6.9996	14.8344	0.70172	0.0:1.0:0.0:0.0	.	1492;1446;1486	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	H	1492;1486;1446	ENSP00000240361:Q1492H;ENSP00000374584:Q1486H;ENSP00000268910:Q1446H	ENSP00000240361:Q1492H	Q	-	3	2	TEX14	53989389	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.929000	0.40114	2.882000	0.98803	0.655000	0.94253	CAG		PASS	0.408	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			43	46	43	46	---	---	---	---
MRC2	9902	broad.mit.edu	37	17	60742095	60742095	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr17:60742095A>G	ENST00000303375.5	+	2	707	c.305A>G	c.(304-306)aAc>aGc	p.N102S		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	102	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)	p.N102S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCAGGCACCAACACCACGGCC	0.612																																						uc002jad.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(304-306)AAC>AGC		mannose receptor, C type 2							79.0	71.0	74.0					17																	60742095		2203	4300	6503	SO:0001583	missense	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60742095A>G	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.305A>G	17.37:g.60742095A>G	ENSP00000307513:p.Asn102Ser					MRC2_uc002jac.2_Missense_Mutation_p.N102S	p.N102S	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN			2	707	+			102			Extracellular (Potential).|Ricin B-type lectin.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.305A>G	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	A	10.89	1.478010	0.26511	.	.	ENSG00000011028	ENST00000303375	T	0.27890	1.64	5.23	5.23	0.72850	Ricin B-related lectin (1);Ricin B lectin (2);	0.154005	0.64402	D	0.000018	T	0.22781	0.0550	L	0.44542	1.39	0.80722	D	1	B	0.24258	0.1	B	0.18263	0.021	T	0.06427	-1.0827	10	0.13470	T	0.59	-43.0876	9.6231	0.39734	0.922:0.0:0.078:0.0	.	102	Q9UBG0	MRC2_HUMAN	S	102	ENSP00000307513:N102S	ENSP00000307513:N102S	N	+	2	0	MRC2	58095827	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	5.946000	0.70234	1.984000	0.57885	0.459000	0.35465	AAC		PASS	0.612	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			23	31	23	31	---	---	---	---
MARCH10	162333	broad.mit.edu	37	17	60821758	60821758	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr17:60821758C>A	ENST00000311269.5	-	5	788	c.514G>T	c.(514-516)Gtg>Ttg	p.V172L	MARCH10_ENST00000544856.2_Missense_Mutation_p.V171L|MARCH10_ENST00000456609.2_Missense_Mutation_p.V172L|MARCH10_ENST00000583600.1_Missense_Mutation_p.V210L	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	172					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.V172L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGAACCGGCACCTTTGCAGGC	0.557																																						uc010ddr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(514-516)GTG>TTG		ring finger protein 190							106.0	104.0	105.0					17																	60821758		2203	4300	6503	SO:0001583	missense	162333						ligase activity|zinc ion binding	g.chr17:60821758C>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.514G>T	17.37:g.60821758C>A	ENSP00000311496:p.Val172Leu					MARCH10_uc002jag.3_Missense_Mutation_p.V172L|MARCH10_uc010dds.2_Missense_Mutation_p.V210L|MARCH10_uc002jah.2_Missense_Mutation_p.V171L	p.V172L	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN			5	752	-			172					D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	37	c.514G>T	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	C	9.737	1.163947	0.21538	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.32272	1.46;1.46;1.46	5.25	0.998	0.19857	.	1.224440	0.05687	N	0.591576	T	0.22475	0.0542	L	0.36672	1.1	0.09310	N	1	B;B;B	0.29301	0.156;0.241;0.035	B;B;B	0.25140	0.026;0.058;0.018	T	0.24548	-1.0157	10	0.39692	T	0.17	0.6988	4.3065	0.10949	0.1591:0.5945:0.0:0.2464	.	171;171;172	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	L	172;172;171	ENSP00000416177:V172L;ENSP00000311496:V172L;ENSP00000443746:V171L	ENSP00000311496:V172L	V	-	1	0	MARCH10	58175490	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	0.513000	0.22770	0.079000	0.16929	0.561000	0.74099	GTG		PASS	0.557	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		21	81	21	81	---	---	---	---
BPTF	2186	broad.mit.edu	37	17	65900897	65900897	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr17:65900897G>T	ENST00000321892.4	+	11	3192	c.3131G>T	c.(3130-3132)aGg>aTg	p.R1044M	BPTF_ENST00000424123.3_Missense_Mutation_p.R905M|BPTF_ENST00000335221.5_Missense_Mutation_p.R1044M|BPTF_ENST00000306378.6_Missense_Mutation_p.R918M			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1044					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R918M(1)|p.R1044M(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CATGTTTATAGGTTTGTTCCT	0.353																																						uc002jgf.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(2752-2754)AGG>ATG		bromodomain PHD finger transcription factor							144.0	145.0	145.0					17																	65900897		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65900897G>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.3131G>T	17.37:g.65900897G>T	ENSP00000315454:p.Arg1044Met					BPTF_uc002jge.2_Missense_Mutation_p.R1044M|BPTF_uc010wqm.1_Missense_Mutation_p.R981M	p.R918M	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		9	2814	+	all_cancers(12;6e-11)		1044					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.2753G>T		.	.	.	.	.	.	.	.	.	.	G	18.89	3.719862	0.68844	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.70282	-0.43;-0.47;-0.44	5.78	5.78	0.91487	.	.	.	.	.	T	0.80088	0.4559	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.991;0.999	T	0.81026	-0.1119	9	0.87932	D	0	-6.8386	20.0793	0.97766	0.0:0.0:1.0:0.0	.	1044;918;1044	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	M	918;1044;1044	ENSP00000307208:R918M;ENSP00000334351:R1044M;ENSP00000315454:R1044M	ENSP00000307208:R918M	R	+	2	0	BPTF	63331359	1.000000	0.71417	0.998000	0.56505	0.848000	0.48234	9.837000	0.99465	2.747000	0.94245	0.650000	0.86243	AGG		PASS	0.353	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		5	60	5	60	---	---	---	---
KCNJ2	3759	broad.mit.edu	37	17	68171704	68171704	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr17:68171704T>C	ENST00000243457.3	+	2	907	c.524T>C	c.(523-525)aTc>aCc	p.I175T	KCNJ2_ENST00000535240.1_Missense_Mutation_p.I175T	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	175					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)	p.I175T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GATGCTTTCATCATTGGCGCA	0.488																																						uc010dfg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(523-525)ATC>ACC		potassium inwardly-rectifying channel J2							161.0	143.0	149.0					17																	68171704		2203	4300	6503	SO:0001583	missense	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68171704T>C	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.524T>C	17.37:g.68171704T>C	ENSP00000243457:p.Ile175Thr					KCNJ2_uc002jir.2_Missense_Mutation_p.I175T	p.I175T	NM_000891	NP_000882	P63252	IRK2_HUMAN			2	925	+	Breast(10;1.64e-08)		175			Helical; Name=M2; (By similarity).		O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	c.524T>C	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.971645	0.53614	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.94828	-3.53;-3.53	5.96	5.96	0.96718	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.96411	0.8829	M	0.86097	2.795	0.58432	D	0.999998	P	0.45768	0.866	P	0.51297	0.665	D	0.96279	0.9205	9	.	.	.	.	16.4311	0.83844	0.0:0.0:0.0:1.0	.	175	P63252	IRK2_HUMAN	T	175	ENSP00000441848:I175T;ENSP00000243457:I175T	.	I	+	2	0	KCNJ2	65683299	1.000000	0.71417	0.999000	0.59377	0.856000	0.48823	8.040000	0.89188	2.277000	0.76020	0.528000	0.53228	ATC		PASS	0.488	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		48	52	48	52	---	---	---	---
SDK2	54549	broad.mit.edu	37	17	71348719	71348719	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr17:71348719G>A	ENST00000392650.3	-	41	5651	c.5651C>T	c.(5650-5652)aCg>aTg	p.T1884M	SDK2_ENST00000388726.3_Missense_Mutation_p.T1865M|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1884	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.T1884M(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CATGCTGAACGTGTAGGAGCT	0.597																																						uc010dfm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(5650-5652)ACG>ATG		sidekick 2							118.0	89.0	99.0					17																	71348719		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71348719G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.5651C>T	17.37:g.71348719G>A	ENSP00000376421:p.Thr1884Met					SDK2_uc002jjt.3_Missense_Mutation_p.T1024M|SDK2_uc002jjv.1_RNA	p.T1884M	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			41	5651	-			1884			Fibronectin type-III 13.|Extracellular (Potential).		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.5651C>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889178	0.91889	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.59502	0.26;0.26;0.26	5.37	5.37	0.77165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.77170	0.4091	M	0.75884	2.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.975	T	0.79725	-0.1683	10	0.87932	D	0	.	19.1067	0.93299	0.0:0.0:1.0:0.0	.	1884;1865	Q58EX2;Q58EX2-3	SDK2_HUMAN;.	M	1508;1884;1865;1041;1884;225	ENSP00000376421:T1884M;ENSP00000373378:T1865M;ENSP00000407098:T1041M	ENSP00000324967:T1884M	T	-	2	0	SDK2	68860314	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.697000	0.98697	2.509000	0.84616	0.655000	0.94253	ACG		PASS	0.597	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		8	49	8	49	---	---	---	---
KIAA0195	9772	broad.mit.edu	37	17	73488676	73488676	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr17:73488676C>A	ENST00000314256.7	+	15	2112	c.1718C>A	c.(1717-1719)tCc>tAc	p.S573Y	KIAA0195_ENST00000375248.5_Missense_Mutation_p.S583Y|KIAA0195_ENST00000579208.1_Missense_Mutation_p.S224Y	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	573						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.S573Y(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTTGATGACTCCAACTGGCAG	0.592																																						uc002jnz.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1717-1719)TCC>TAC		hypothetical protein LOC9772							112.0	99.0	104.0					17																	73488676		2203	4300	6503	SO:0001583	missense	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73488676C>A		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.1718C>A	17.37:g.73488676C>A	ENSP00000313885:p.Ser573Tyr					KIAA0195_uc010wsa.1_Missense_Mutation_p.S583Y|KIAA0195_uc010wsb.1_Missense_Mutation_p.S213Y|KIAA0195_uc002job.3_5'Flank	p.S573Y	NM_014738	NP_055553	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		15	1993	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		573					O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	c.1718C>A	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.161146	0.38119	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.88664	-2.41;-2.41	5.6	5.6	0.85130	.	0.226336	0.47093	D	0.000257	D	0.91778	0.7399	L	0.56769	1.78	0.58432	D	0.999995	B;B;B	0.28880	0.145;0.226;0.145	P;B;B	0.45037	0.467;0.244;0.123	D	0.89583	0.3822	10	0.46703	T	0.11	-24.4305	19.6116	0.95608	0.0:1.0:0.0:0.0	.	583;583;573	B4DGC6;C9JL75;Q12767	.;.;K0195_HUMAN	Y	573;583	ENSP00000313885:S573Y;ENSP00000364397:S583Y	ENSP00000313885:S573Y	S	+	2	0	KIAA0195	71000271	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.700000	0.61803	2.651000	0.90000	0.561000	0.74099	TCC		PASS	0.592	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		6	73	6	73	---	---	---	---
SMCHD1	23347	broad.mit.edu	37	18	2707859	2707859	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr18:2707859C>T	ENST00000320876.6	+	17	2539	c.2201C>T	c.(2200-2202)cCa>cTa	p.P734L	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.P734L	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	734					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.P734L(2)|p.P182L(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CAAAAGCTTCCAGGAACAAGC	0.308																																						uc002klm.3																			3	Substitution - Missense(3)		lung(3)		0						c.(2200-2202)CCA>CTA		structural maintenance of chromosomes flexible							32.0	35.0	34.0					18																	2707859		1801	4071	5872	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2707859C>T	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.2201C>T	18.37:g.2707859C>T	ENSP00000326603:p.Pro734Leu					SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	p.P734L	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			17	2390	+			734					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.2201C>T	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170646	0.38315	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.25414	1.8;1.81	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.23965	0.0580	L	0.29908	0.895	0.53005	D	0.999964	B	0.32781	0.384	B	0.33196	0.159	T	0.07290	-1.0780	10	0.66056	D	0.02	-10.3924	18.7485	0.91804	0.0:1.0:0.0:0.0	.	734	A6NHR9	SMHD1_HUMAN	L	734	ENSP00000326603:P734L;ENSP00000261598:P734L	ENSP00000261598:P734L	P	+	2	0	SMCHD1	2697859	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.547000	0.67249	2.474000	0.83562	0.557000	0.71058	CCA		PASS	0.308	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			11	21	11	21	---	---	---	---
TCEB3B	51224	broad.mit.edu	37	18	44560934	44560934	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr18:44560934T>A	ENST00000332567.4	-	1	1054	c.702A>T	c.(700-702)aaA>aaT	p.K234N	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	234					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K234N(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACAAGGGGCGTTTTTCCTGGC	0.607																																						uc002lcr.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(700-702)AAA>AAT		elongin A2							42.0	43.0	43.0					18																	44560934		2203	4300	6503	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44560934T>A	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.702A>T	18.37:g.44560934T>A	ENSP00000331302:p.Lys234Asn					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.K234N	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	1055	-			234					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.702A>T	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	T	6.081	0.383222	0.11524	.	.	ENSG00000206181	ENST00000332567	T	0.12465	2.68	1.8	-1.36	0.09085	.	0.562075	0.14202	U	0.334644	T	0.07593	0.0191	L	0.32530	0.975	0.09310	N	1	B	0.19817	0.039	B	0.12156	0.007	T	0.31641	-0.9936	10	0.30854	T	0.27	.	2.5826	0.04822	0.0:0.1881:0.2805:0.5314	.	234	Q8IYF1	ELOA2_HUMAN	N	234	ENSP00000331302:K234N	ENSP00000331302:K234N	K	-	3	2	TCEB3B	42814932	0.012000	0.17670	0.000000	0.03702	0.001000	0.01503	-0.029000	0.12329	-0.304000	0.08843	0.379000	0.24179	AAA		PASS	0.607	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		13	13	13	13	---	---	---	---
CCDC68	80323	broad.mit.edu	37	18	52586518	52586518	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr18:52586518C>T	ENST00000591504.1	-	9	1047	c.773G>A	c.(772-774)cGc>cAc	p.R258H	CCDC68_ENST00000337363.4_Missense_Mutation_p.R258H|CCDC68_ENST00000432185.1_Missense_Mutation_p.R258H	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	258								p.R258H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		GATGACACTGCGCAGGTTCTG	0.468																																						uc002lfs.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(772-774)CGC>CAC		coiled-coil domain containing 68							134.0	126.0	129.0					18																	52586518		2203	4300	6503	SO:0001583	missense	80323							g.chr18:52586518C>T		CCDS11959.1	18q21	2006-02-07			ENSG00000166510	ENSG00000166510			24350	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma associated antigen"""					11149944, 15142679	Standard	NM_025214		Approved	SE57-1	uc002lft.3	Q9H2F9	OTTHUMG00000132708	ENST00000591504.1:c.773G>A	18.37:g.52586518C>T	ENSP00000466690:p.Arg258His					CCDC68_uc002lft.2_Missense_Mutation_p.R258H	p.R258H	NM_001143829	NP_001137301	Q9H2F9	CCD68_HUMAN		Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)	9	945	-			258			Potential.		B2R9I3	Missense_Mutation	SNP	ENST00000591504.1	37	c.773G>A	CCDS11959.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.555800	0.45487	.	.	ENSG00000166510	ENST00000337363;ENST00000432185	T;T	0.17370	2.28;2.28	5.64	5.64	0.86602	.	0.118072	0.38959	N	0.001518	T	0.16514	0.0397	L	0.39566	1.225	0.33966	D	0.646204	B	0.13145	0.007	B	0.12156	0.007	T	0.08680	-1.0710	10	0.32370	T	0.25	-2.3012	15.2053	0.73175	0.0:1.0:0.0:0.0	.	258	Q9H2F9	CCD68_HUMAN	H	258	ENSP00000337209:R258H;ENSP00000413406:R258H	ENSP00000337209:R258H	R	-	2	0	CCDC68	50737516	0.649000	0.27322	0.984000	0.44739	0.978000	0.69477	0.670000	0.25157	2.637000	0.89404	0.650000	0.86243	CGC		PASS	0.468	CCDC68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256006.1	NM_025214		23	51	23	51	---	---	---	---
CLEC4M	10332	broad.mit.edu	37	19	7830871	7830871	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr19:7830871C>A	ENST00000327325.5	+	4	680	c.562C>A	c.(562-564)Ctg>Atg	p.L188M	CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000248228.4_Missense_Mutation_p.L166M|CLEC4M_ENST00000595496.1_Intron|CLEC4M_ENST00000359059.5_Missense_Mutation_p.L144M|CLEC4M_ENST00000394122.2_Missense_Mutation_p.L176M|CLEC4M_ENST00000334806.5_Missense_Mutation_p.L137M|CLEC4M_ENST00000357361.2_Missense_Mutation_p.L188M|CLEC4M_ENST00000596363.1_Missense_Mutation_p.L160M|CLEC4M_ENST00000596707.1_Missense_Mutation_p.L167M	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	188	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)	p.L188M(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GCTGACCCGGCTGAAGGCTGC	0.582																																						uc002mih.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(493-495)CTG>ATG		C-type lectin domain family 4, member M isoform							21.0	19.0	19.0					19																	7830871		2043	4167	6210	SO:0001583	missense	10332				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7830871C>A	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.562C>A	19.37:g.7830871C>A	ENSP00000316228:p.Leu188Met					CLEC4M_uc010xjv.1_Missense_Mutation_p.L160M|CLEC4M_uc002mhy.2_Missense_Mutation_p.L132M|CLEC4M_uc010xjw.1_Missense_Mutation_p.L167M|CLEC4M_uc010dvt.2_Intron|CLEC4M_uc010dvs.2_Missense_Mutation_p.L164M|CLEC4M_uc010xjx.1_Missense_Mutation_p.L137M|CLEC4M_uc002mhz.2_Intron|CLEC4M_uc002mic.2_Missense_Mutation_p.L160M|CLEC4M_uc002mia.2_Intron	p.L165M	NM_001144910	NP_001138382	Q9H2X3	CLC4M_HUMAN			5	611	+			165			Extracellular (Probable).|7 X approximate tandem repeats.|3.		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	ENST00000327325.5	37	c.493C>A	CCDS12187.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.499830	0.26861	.	.	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059;ENST00000357361;ENST00000358690	T;T;T;T;T;T	0.27256	1.68;1.87;1.87;1.68;3.84;1.68	1.1	0.00113	0.14045	.	.	.	.	.	T	0.42585	0.1209	M	0.76574	2.34	0.09310	N	0.999999	D;P;D;D;D;D;D;D	0.76494	0.999;0.951;0.999;0.999;0.998;0.96;0.997;0.997	D;D;D;D;D;D;D;D	0.91635	0.986;0.965;0.999;0.991;0.986;0.959;0.99;0.959	T	0.20009	-1.0288	9	0.49607	T	0.09	.	3.1328	0.06429	0.0:0.6782:0.0:0.3218	.	137;167;160;188;176;165;160;132	B4E2Z5;Q9H2X3-5;B4DNV9;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-9;Q9H2X3-10	.;.;.;CLC4M_HUMAN;.;.;.;.	M	188;176;166;137;144;188;132	ENSP00000316228:L188M;ENSP00000377680:L176M;ENSP00000248228:L166M;ENSP00000335228:L137M;ENSP00000351954:L144M;ENSP00000349924:L188M	ENSP00000248228:L166M	L	+	1	2	CLEC4M	7736871	0.841000	0.29509	0.350000	0.25708	0.097000	0.18754	0.468000	0.22051	0.032000	0.15435	0.430000	0.28490	CTG		PASS	0.582	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257		4	40	4	40	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9063042	9063042	+	Missense_Mutation	SNP	G	G	T	rs201103908		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr19:9063042G>T	ENST00000397910.4	-	3	24607	c.24404C>A	c.(24403-24405)gCc>gAc	p.A8135D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8137	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.A8135D(2)|p.A3768D(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATCTCTGTGGCTAAGCTGGT	0.532																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(24403-24405)GCC>GAC		mucin 16							124.0	120.0	122.0					19																	9063042		2004	4179	6183	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9063042G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24404C>A	19.37:g.9063042G>T	ENSP00000381008:p.Ala8135Asp						p.A8135D	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	24608	-			8137			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.24404C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.543	0.285171	0.10513	.	.	ENSG00000181143	ENST00000397910	T	0.02812	4.15	3.31	-1.71	0.08133	.	.	.	.	.	T	0.03305	0.0096	N	0.14661	0.345	.	.	.	D	0.64830	0.994	P	0.59825	0.864	T	0.41070	-0.9529	8	0.87932	D	0	.	0.7038	0.00912	0.2334:0.1879:0.3865:0.1922	.	8135	B5ME49	.	D	8135	ENSP00000381008:A8135D	ENSP00000381008:A8135D	A	-	2	0	MUC16	8924042	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.364000	0.02590	-0.192000	0.10432	-1.312000	0.01307	GCC		PASS	0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		34	47	34	47	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9063975	9063975	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr19:9063975T>C	ENST00000397910.4	-	3	23674	c.23471A>G	c.(23470-23472)gAg>gGg	p.E7824G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7826	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E7824G(2)|p.E3457G(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGCTAGCTCTGTCTGAAT	0.542																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(23470-23472)GAG>GGG		mucin 16							126.0	121.0	123.0					19																	9063975		2068	4224	6292	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9063975T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23471A>G	19.37:g.9063975T>C	ENSP00000381008:p.Glu7824Gly						p.E7824G	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	23675	-			7826			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.23471A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	4.020	0.001182	0.07819	.	.	ENSG00000181143	ENST00000397910	T	0.02787	4.16	1.71	-0.796	0.10912	.	.	.	.	.	T	0.02012	0.0063	N	0.24115	0.695	.	.	.	B	0.16603	0.018	B	0.11329	0.006	T	0.44498	-0.9324	8	0.87932	D	0	.	2.3026	0.04166	0.0:0.2097:0.3103:0.48	.	7824	B5ME49	.	G	7824	ENSP00000381008:E7824G	ENSP00000381008:E7824G	E	-	2	0	MUC16	8924975	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.032000	0.13732	-0.283000	0.09115	0.157000	0.16456	GAG		PASS	0.542	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		28	36	28	36	---	---	---	---
ZNF560	147741	broad.mit.edu	37	19	9578544	9578544	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr19:9578544G>T	ENST00000301480.4	-	10	1292	c.1079C>A	c.(1078-1080)cCt>cAt	p.P360H		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	360					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.P360H(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AAGGTGGGTAGGGTATCTAAA	0.383																																						uc002mlp.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						c.(1078-1080)CCT>CAT		zinc finger protein 560							199.0	191.0	194.0					19																	9578544		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9578544G>T	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1079C>A	19.37:g.9578544G>T	ENSP00000301480:p.Pro360His					ZNF560_uc010dwr.1_Missense_Mutation_p.P254H	p.P360H	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN			10	1289	-			360			C2H2-type 2.		Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.1079C>A	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.306646	0.23736	.	.	ENSG00000198028	ENST00000301480	T	0.07327	3.2	1.94	0.878	0.19150	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08846	0.0219	L	0.31526	0.94	0.09310	N	1	D	0.61697	0.99	P	0.53593	0.73	T	0.30765	-0.9967	9	0.23302	T	0.38	.	3.9965	0.09561	0.382:0.0:0.6179:0.0	.	360	Q96MR9	ZN560_HUMAN	H	360	ENSP00000301480:P360H	ENSP00000301480:P360H	P	-	2	0	ZNF560	9439544	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-1.208000	0.03005	0.366000	0.24427	0.491000	0.48974	CCT		PASS	0.383	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		21	32	21	32	---	---	---	---
ZNF562	54811	broad.mit.edu	37	19	9764539	9764539	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr19:9764539C>A	ENST00000448622.1	-	6	529	c.367G>T	c.(367-369)Gga>Tga	p.G123*	ZNF562_ENST00000293648.4_Nonsense_Mutation_p.G51*|ZNF562_ENST00000541032.1_Nonsense_Mutation_p.G86*|ZNF562_ENST00000453792.2_Nonsense_Mutation_p.G54*|ZNF562_ENST00000537617.1_Nonsense_Mutation_p.G7*|ZNF562_ENST00000587392.1_Missense_Mutation_p.W87L|ZNF562_ENST00000590155.1_Nonsense_Mutation_p.G122*|ZNF562_ENST00000453372.2_Nonsense_Mutation_p.G123*	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	123					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.G51*(1)|p.G123*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						AGTTTCCATCCACTGTAGCTT	0.393																																						uc010xks.1																			2	Substitution - Nonsense(2)		lung(2)		0						c.(367-369)GGA>TGA		zinc finger protein 562 isoform a							68.0	64.0	65.0					19																	9764539		2203	4300	6503	SO:0001587	stop_gained	54811				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9764539C>A	AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"""Zinc fingers, C2H2-type"", ""-"""	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.367G>T	19.37:g.9764539C>A	ENSP00000411784:p.Gly123*					ZNF562_uc002mly.2_Nonsense_Mutation_p.G123*|ZNF562_uc002mlx.2_Nonsense_Mutation_p.G51*|ZNF562_uc010xkt.1_Nonsense_Mutation_p.G86*|ZNF562_uc010xku.1_Nonsense_Mutation_p.G54*|ZNF562_uc010xkv.1_Nonsense_Mutation_p.G122*|ZNF562_uc010xkw.1_Nonsense_Mutation_p.G7*	p.G123*	NM_001130032	NP_001123504	Q6V9R5	ZN562_HUMAN			6	530	-			123					Q32MN2|Q9NXS5	Nonsense_Mutation	SNP	ENST00000448622.1	37	c.367G>T	CCDS45956.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379337	0.82682	.	.	ENSG00000171466	ENST00000453372;ENST00000448622;ENST00000293648;ENST00000541032;ENST00000453792;ENST00000537617	.	.	.	1.42	1.42	0.22433	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	8.7627	0.34685	0.0:1.0:0.0:0.0	.	.	.	.	X	123;123;51;86;54;7	.	ENSP00000293648:G51X	G	-	1	0	ZNF562	9625539	0.000000	0.05858	0.024000	0.17045	0.636000	0.38137	-0.409000	0.07160	1.088000	0.41272	0.313000	0.20887	GGA		PASS	0.393	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450239.1	NM_017656		4	44	4	44	---	---	---	---
C19orf44	84167	broad.mit.edu	37	19	16612105	16612105	+	Missense_Mutation	SNP	G	G	A	rs192562625		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr19:16612105G>A	ENST00000221671.3	+	2	658	c.502G>A	c.(502-504)Gcg>Acg	p.A168T	C19orf44_ENST00000594035.1_Missense_Mutation_p.A168T|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	168								p.A168T(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TGCACAGAACGCGAAGGTCAG	0.493													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16140	0.0		0.0	False		,,,				2504	0.0					uc002neh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(502-504)GCG>ACG		hypothetical protein LOC84167		G	THR/ALA	0,4406		0,0,2203	79.0	82.0	81.0		502	-3.1	0.0	19		81	4,8596	3.7+/-12.6	0,4,4296	yes	missense	C19orf44	NM_032207.2	58	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign	168/658	16612105	4,13002	2203	4300	6503	SO:0001583	missense	84167							g.chr19:16612105G>A	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.502G>A	19.37:g.16612105G>A	ENSP00000221671:p.Ala168Thr					MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.A168T|C19orf44_uc002neg.2_Missense_Mutation_p.A168T|C19orf44_uc010eai.1_RNA	p.A168T	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN			2	575	+			168					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.502G>A	CCDS12345.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	10.45	1.353248	0.24512	0.0	4.65E-4	ENSG00000105072	ENST00000221671	.	.	.	4.83	-3.1	0.05315	.	1.519900	0.04157	N	0.322308	T	0.14830	0.0358	N	0.22421	0.69	0.09310	N	1	P;P	0.40619	0.564;0.724	B;B	0.30179	0.112;0.112	T	0.13926	-1.0491	9	0.49607	T	0.09	-2.7236	2.8054	0.05426	0.2196:0.3025:0.3704:0.1075	.	168;168	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	T	168	.	ENSP00000221671:A168T	A	+	1	0	C19orf44	16473105	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.053000	0.11846	-0.723000	0.04915	-2.355000	0.00241	GCG		PASS	0.493	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		19	80	19	80	---	---	---	---
KIAA1683	80726	broad.mit.edu	37	19	18368721	18368721	+	Missense_Mutation	SNP	G	G	A	rs146173511		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr19:18368721G>A	ENST00000600328.3	-	4	3005	c.2812C>T	c.(2812-2814)Cgt>Tgt	p.R938C	KIAA1683_ENST00000392413.4_Missense_Mutation_p.R1125C|KIAA1683_ENST00000600359.3_Missense_Mutation_p.R892C|PDE4C_ENST00000596647.1_5'Flank|PDE4C_ENST00000355502.3_5'Flank			Q9H0B3	K1683_HUMAN	KIAA1683	938	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.R1125C(1)|p.R938C(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AGGTAGCCACGGACGCCCGCC	0.682																																						uc002nin.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2812-2814)CGT>TGT		KIAA1683 isoform b		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4404		0,0,2202	49.0	51.0	51.0		3373,2674,2812	3.2	0.5	19	dbSNP_134	51	1,8589		0,1,4294	no	missense,missense,missense	KIAA1683	NM_001145304.1,NM_001145305.1,NM_025249.3	180,180,180	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1125/1368,892/1135,938/1181	18368721	1,12993	2202	4295	6497	SO:0001583	missense	80726					mitochondrion		g.chr19:18368721G>A	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.2812C>T	19.37:g.18368721G>A	ENSP00000470780:p.Arg938Cys					PDE4C_uc002nil.3_5'Flank|KIAA1683_uc010ebn.2_Missense_Mutation_p.R1125C|KIAA1683_uc010xqe.1_Missense_Mutation_p.R892C|KIAA1683_uc010xqf.1_RNA	p.R938C	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN			4	3028	-			938			IQ 2.		B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	c.2812C>T	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333692	0.60853	0.0	1.16E-4	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000392412;ENST00000411671	T;T;T	0.77098	-1.07;-1.07;-1.07	4.33	3.25	0.37280	.	0.000000	0.32918	N	0.005492	D	0.90484	0.7019	H	0.97707	4.06	0.19775	N	0.999958	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.81573	-0.0871	10	0.72032	D	0.01	-7.8274	7.8649	0.29530	0.0:0.0:0.6789:0.3211	.	1125;938	E9PDE0;Q9H0B3	.;K1683_HUMAN	C	1125;938;892;202;552	ENSP00000376213:R1125C;ENSP00000352774:R938C;ENSP00000404501:R892C	ENSP00000352774:R938C	R	-	1	0	KIAA1683	18229721	0.435000	0.25577	0.477000	0.27303	0.107000	0.19398	1.617000	0.36943	1.971000	0.57363	0.313000	0.20887	CGT		PASS	0.682	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			13	24	13	24	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22940719	22940719	+	Silent	SNP	A	A	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr19:22940719A>T	ENST00000596209.1	-	4	2082	c.1992T>A	c.(1990-1992)ctT>ctA	p.L664L	ZNF99_ENST00000397104.3_Silent_p.L573L	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	664					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.L573L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TATGTCTAGTAAGGTGTGAGG	0.378																																						uc010xrh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1717-1719)CTT>CTA		zinc finger protein 99							53.0	56.0	55.0					19																	22940719		2141	4256	6397	SO:0001819	synonymous_variant	7652							g.chr19:22940719A>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1992T>A	19.37:g.22940719A>T							p.L573L	NM_001080409	NP_001073878					5	1719	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.1719T>A	CCDS59369.1																																																																																				PASS	0.378	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		16	51	16	51	---	---	---	---
ZNF91	7644	broad.mit.edu	37	19	23543751	23543751	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr19:23543751T>A	ENST00000300619.7	-	4	2235	c.2030A>T	c.(2029-2031)aAg>aTg	p.K677M	ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000397082.2_Missense_Mutation_p.K645M|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	677					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K677M(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ATGAGTTATCTTATGATTAGC	0.353																																						uc002nre.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2029-2031)AAG>ATG		zinc finger protein 91							54.0	57.0	56.0					19																	23543751		1984	4193	6177	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23543751T>A	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.2030A>T	19.37:g.23543751T>A	ENSP00000300619:p.Lys677Met					ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.K645M	p.K677M	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	2143	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	677			C2H2-type 19.		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.2030A>T	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	9.307	1.054667	0.19907	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.04454	3.62;3.62	1.71	-3.43	0.04810	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03348	0.0097	N	0.00894	-1.105	0.09310	N	1	B;D	0.89917	0.03;1.0	B;D	0.80764	0.02;0.994	T	0.32745	-0.9895	9	0.72032	D	0.01	.	0.8826	0.01237	0.1575:0.1806:0.3158:0.3461	.	645;677	Q05481-2;Q05481	.;ZNF91_HUMAN	M	677;645	ENSP00000300619:K677M;ENSP00000380272:K645M	ENSP00000300619:K677M	K	-	2	0	ZNF91	23335591	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.827000	0.04424	-1.498000	0.01824	0.172000	0.16884	AAG		PASS	0.353	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		12	77	12	77	---	---	---	---
ZNF91	7644	broad.mit.edu	37	19	23544675	23544675	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr19:23544675T>A	ENST00000300619.7	-	4	1311	c.1106A>T	c.(1105-1107)aAg>aTg	p.K369M	ZNF91_ENST00000397082.2_Missense_Mutation_p.K337M|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	369					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K369M(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ATGAGTTATCTTATGATTAGC	0.353																																						uc002nre.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1105-1107)AAG>ATG		zinc finger protein 91							41.0	43.0	42.0					19																	23544675		1983	4185	6168	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544675T>A	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1106A>T	19.37:g.23544675T>A	ENSP00000300619:p.Lys369Met					ZNF91_uc010xrj.1_Missense_Mutation_p.K337M	p.K369M	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	1219	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	369			C2H2-type 8.		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.1106A>T	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	7.076	0.569231	0.13560	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.04454	3.62;3.62	1.65	-3.29	0.05017	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04543	0.0124	N	0.02842	-0.48	0.09310	N	0.999997	D;D	0.89917	1.0;0.995	D;D	0.85130	0.997;0.921	T	0.29058	-1.0024	9	0.56958	D	0.05	.	2.4852	0.04597	0.2623:0.3117:0.0:0.426	.	337;369	Q05481-2;Q05481	.;ZNF91_HUMAN	M	369;337	ENSP00000300619:K369M;ENSP00000380272:K337M	ENSP00000300619:K369M	K	-	2	0	ZNF91	23336515	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.149000	0.16243	-1.102000	0.03023	0.136000	0.15936	AAG		PASS	0.353	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		12	33	12	33	---	---	---	---
SLC7A9	11136	broad.mit.edu	37	19	33333196	33333196	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr19:33333196G>T	ENST00000023064.4	-	11	1293	c.1102C>A	c.(1102-1104)Cct>Act	p.P368T	SLC7A9_ENST00000587772.1_Missense_Mutation_p.P368T|SLC7A9_ENST00000590341.1_Missense_Mutation_p.P368T	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	368					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)	p.P368T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	ATGTCACCAGGGATGATATAA	0.388																																					GBM(181;1335 2108 9644 44178 46689)	uc002ntv.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1102-1104)CCT>ACT		solute carrier family 7, member 9	L-Cystine(DB00138)						103.0	99.0	100.0					19																	33333196		2203	4300	6503	SO:0001583	missense	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33333196G>T	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.1102C>A	19.37:g.33333196G>T	ENSP00000023064:p.Pro368Thr					SLC7A9_uc002ntt.3_RNA|SLC7A9_uc002ntu.3_Missense_Mutation_p.P368T|SLC7A9_uc002ntw.3_Missense_Mutation_p.P159T	p.P368T	NM_001126335	NP_001119807	P82251	BAT1_HUMAN			11	1219	-	Esophageal squamous(110;0.137)		368			Helical; (Potential).		B2R9A6	Missense_Mutation	SNP	ENST00000023064.4	37	c.1102C>A	CCDS12425.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806002	0.90623	.	.	ENSG00000021488	ENST00000023064	D	0.90197	-2.63	5.71	5.71	0.89125	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.93772	0.8009	L	0.58583	1.82	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.72982	0.979;0.979	D	0.90504	0.4476	10	0.13853	T	0.58	.	19.4554	0.94886	0.0:0.0:1.0:0.0	.	368;368	Q53FY4;P82251	.;BAT1_HUMAN	T	368	ENSP00000023064:P368T	ENSP00000023064:P368T	P	-	1	0	SLC7A9	38025036	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.966000	0.93397	2.681000	0.91329	0.655000	0.94253	CCT		PASS	0.388	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			6	127	6	127	---	---	---	---
GPATCH1	55094	broad.mit.edu	37	19	33585143	33585143	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr19:33585143G>T	ENST00000170564.2	+	5	835	c.521G>T	c.(520-522)cGa>cTa	p.R174L		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	174	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)	p.R174L(1)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GTTGGTCCTCGAGTAAAGAGA	0.398																																					Pancreas(67;88 1713 4567 18227)	uc002nug.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(520-522)CGA>CTA		G patch domain containing 1							105.0	109.0	108.0					19																	33585143		2203	4300	6503	SO:0001583	missense	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33585143G>T	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.521G>T	19.37:g.33585143G>T	ENSP00000170564:p.Arg174Leu						p.R174L	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN			5	835	+	Esophageal squamous(110;0.137)		174			G-patch.		Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	c.521G>T	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	G	31	5.087178	0.94100	.	.	ENSG00000076650	ENST00000170564	T	0.31247	1.5	5.46	5.46	0.80206	D111/G-patch (2);	0.000000	0.85682	D	0.000000	T	0.57873	0.2083	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.58233	-0.7672	10	0.51188	T	0.08	-10.7698	18.3148	0.90217	0.0:0.0:1.0:0.0	.	174	Q9BRR8	GPTC1_HUMAN	L	174	ENSP00000170564:R174L	ENSP00000170564:R174L	R	+	2	0	GPATCH1	38276983	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.536000	0.90627	2.574000	0.86865	0.460000	0.39030	CGA		PASS	0.398	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		5	103	5	103	---	---	---	---
EIF3K	27335	broad.mit.edu	37	19	39116734	39116734	+	Missense_Mutation	SNP	G	G	T	rs565785218		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr19:39116734G>T	ENST00000538434.1	+	3	320	c.85G>T	c.(85-87)Gcc>Tcc	p.A29S	EIF3K_ENST00000588934.1_Missense_Mutation_p.A116S|EIF3K_ENST00000545173.2_Missense_Mutation_p.A116S|EIF3K_ENST00000248342.4_Missense_Mutation_p.A116S|EIF3K_ENST00000593149.1_Missense_Mutation_p.A29S|EIF3K_ENST00000593062.1_3'UTR|EIF3K_ENST00000592558.1_Missense_Mutation_p.A116S					eukaryotic translation initiation factor 3, subunit K									p.A116S(1)	EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCATTTCCAGGCCTTCTGGGT	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		18471	0.001		0.0	False		,,,				2504	0.0					uc002oiz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(346-348)GCC>TCC		eukaryotic translation initiation factor 3,							100.0	91.0	94.0					19																	39116734		2203	4300	6503	SO:0001583	missense	27335				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity	g.chr19:39116734G>T	AB019392	CCDS12517.1, CCDS74360.1	19q13.2	2012-05-28	2007-07-27	2007-07-27	ENSG00000178982	ENSG00000178982			24656	protein-coding gene	gene with protein product		609596	"""eukaryotic translation initiation factor 3, subunit 12"""	EIF3S12		11042152, 14519125	Standard	XM_006723147		Approved	eIF3k, PRO1474, HSPC029, PTD001, PLAC-24, M9, ARG134	uc002oiz.1	Q9UBQ5		ENST00000538434.1:c.85G>T	19.37:g.39116734G>T	ENSP00000440999:p.Ala29Ser					EIF3K_uc010xuh.1_Missense_Mutation_p.A116S|EIF3K_uc010xui.1_Missense_Mutation_p.A29S	p.A116S	NM_013234	NP_037366	Q9UBQ5	EIF3K_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		4	533	+	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		116						Missense_Mutation	SNP	ENST00000538434.1	37	c.346G>T		.	.	.	.	.	.	.	.	.	.	G	6.637	0.485978	0.12641	.	.	ENSG00000178982	ENST00000248342;ENST00000538434;ENST00000545173	.	.	.	4.29	3.25	0.37280	Translation initiation factor 3, subunit 12, N-terminal, eukaryotic (1);Armadillo-type fold (1);	0.214343	0.40554	N	0.001080	T	0.18635	0.0447	N	0.01219	-0.95	0.35384	D	0.790144	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.09164	-1.0687	9	0.87932	D	0	-18.9915	7.2831	0.26322	0.0919:0.0:0.7416:0.1665	.	29;116;116	B4DQ48;B7ZAM9;Q9UBQ5	.;.;EIF3K_HUMAN	S	116;29;116	.	ENSP00000248342:A116S	A	+	1	0	EIF3K	43808574	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.271000	0.51608	1.108000	0.41662	-0.244000	0.11960	GCC		PASS	0.567	EIF3K-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000453409.1	NM_013234		77	21	77	21	---	---	---	---
FBL	2091	broad.mit.edu	37	19	40330880	40330880	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr19:40330880G>T	ENST00000221801.3	-	4	484	c.371C>A	c.(370-372)tCg>tAg	p.S124*	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	124					histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S124*(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CACCGAAATCGAGACTCTCTT	0.557																																						uc002omn.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(370-372)TCG>TAG		fibrillarin							93.0	81.0	85.0					19																	40330880		2203	4300	6503	SO:0001587	stop_gained	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40330880G>T	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.371C>A	19.37:g.40330880G>T	ENSP00000221801:p.Ser124*					FBL_uc002omm.1_Nonsense_Mutation_p.S38*|FBL_uc002omo.2_Nonsense_Mutation_p.S123*|FBL_uc010egr.2_Nonsense_Mutation_p.S124*	p.S124*	NM_001436	NP_001427	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)	4	485	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	124					B5BUE8|O75259|Q6IAT5|Q9UPI6	Nonsense_Mutation	SNP	ENST00000221801.3	37	c.371C>A	CCDS12545.1	.	.	.	.	.	.	.	.	.	.	G	36	5.731048	0.96856	.	.	ENSG00000105202	ENST00000221801	.	.	.	5.08	5.08	0.68730	.	0.219322	0.47455	D	0.000224	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.336	15.9902	0.80199	0.0:0.0:1.0:0.0	.	.	.	.	X	124	.	ENSP00000221801:S124X	S	-	2	0	FBL	45022720	1.000000	0.71417	0.938000	0.37757	0.842000	0.47809	3.713000	0.54882	2.355000	0.79922	0.511000	0.50034	TCG		PASS	0.557	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		4	55	4	55	---	---	---	---
CYP2A7	1549	broad.mit.edu	37	19	41383104	41383104	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr19:41383104G>T	ENST00000301146.4	-	7	1693	c.1152C>A	c.(1150-1152)ttC>ttA	p.F384L	CYP2A7_ENST00000291764.3_Missense_Mutation_p.F333L|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	384						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)	p.F384L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCTTAGGGAGGAAAAAATCCC	0.527																																						uc002opm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(1150-1152)TTC>TTA		cytochrome P450, family 2, subfamily A,							84.0	77.0	79.0					19																	41383104		2203	4299	6502	SO:0001583	missense	1549					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41383104G>T	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.1152C>A	19.37:g.41383104G>T	ENSP00000301146:p.Phe384Leu					CYP2A7_uc002opo.2_Missense_Mutation_p.F384L|CYP2A7_uc002opn.2_Missense_Mutation_p.F333L	p.F384L	NM_000764	NP_000755	P20853	CP2A7_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		7	1694	-			384					Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	c.1152C>A	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	G	0.099	-1.154929	0.01700	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.11821	5.11;2.74	2.29	-4.57	0.03421	.	0.509560	0.19899	N	0.103541	T	0.04407	0.0121	N	0.13299	0.325	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.10450	0.001;0.005;0.001	T	0.39663	-0.9603	10	0.02654	T	1	.	5.7435	0.18108	0.3796:0.1408:0.4796:0.0	.	384;333;384	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	L	384;333	ENSP00000301146:F384L;ENSP00000291764:F333L	ENSP00000291764:F333L	F	-	3	2	CYP2A7	46074944	0.000000	0.05858	0.006000	0.13384	0.267000	0.26476	-1.042000	0.03539	-1.059000	0.03193	0.184000	0.17185	TTC		PASS	0.527	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		20	77	20	77	---	---	---	---
PSG9	5678	broad.mit.edu	37	19	43772283	43772283	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr19:43772283C>A	ENST00000270077.3	-	2	179	c.83G>T	c.(82-84)tGg>tTg	p.W28L	PSG9_ENST00000244293.7_Missense_Mutation_p.W28L|PSG9_ENST00000291752.5_Missense_Mutation_p.W28L|PSG9_ENST00000596730.1_Missense_Mutation_p.W28L|PSG9_ENST00000418820.2_Missense_Mutation_p.W28L|PSG9_ENST00000593948.1_Missense_Mutation_p.W28L|PSG9_ENST00000443718.3_Missense_Mutation_p.W28L	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	28					female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.W28L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGGCGGGTTCCAGAAGTTTAA	0.498																																						uc002owd.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(82-84)TGG>TTG		pregnancy specific beta-1-glycoprotein 9							106.0	109.0	108.0					19																	43772283		2203	4300	6503	SO:0001583	missense	5678				female pregnancy	extracellular region		g.chr19:43772283C>A	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.83G>T	19.37:g.43772283C>A	ENSP00000270077:p.Trp28Leu					PSG9_uc002owe.3_Missense_Mutation_p.W28L|PSG9_uc010xwm.1_Missense_Mutation_p.W28L|PSG9_uc002owf.3_Missense_Mutation_p.W28L|PSG9_uc002owg.2_Missense_Mutation_p.W28L|PSG9_uc002owh.2_Missense_Mutation_p.W28L	p.W28L	NM_002784	NP_002775	Q00887	PSG9_HUMAN			2	182	-		Prostate(69;0.00682)	28					B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000270077.3	37	c.83G>T	CCDS12618.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	12.59|12.59	1.982489|1.982489	0.34942|0.34942	.|.	.|.	ENSG00000183668|ENSG00000183668	ENST00000418820|ENST00000270077;ENST00000291752;ENST00000443718;ENST00000435220;ENST00000244293	.|T;T;T;T	.|0.50548	.|0.74;2.15;2.57;1.6	1.56|1.56	1.56|1.56	0.23342|0.23342	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67730	.|0.2924	M|M	0.86805|0.86805	2.84|2.84	0.09310|0.09310	N|N	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;0.998;0.999;0.997	.|D;D;D;D;D	.|0.91635	.|0.999;0.999;0.962;0.968;0.995	.|T	.|0.52586	.|-0.8556	.|9	.|0.87932	.|D	.|0	.|.	6.5953|6.5953	0.22669|0.22669	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|28;28;28;28;28	.|E7EW65;Q15227;G3XAA7;Q6LEU7;Q00887	.|.;.;.;.;PSG9_HUMAN	X|L	15|28	.|ENSP00000270077:W28L;ENSP00000291752:W28L;ENSP00000396753:W28L;ENSP00000244293:W28L	.|ENSP00000244293:W28L	G|W	-|-	1|2	0|0	PSG9|PSG9	48464123|48464123	0.199000|0.199000	0.23386|0.23386	0.074000|0.074000	0.20217|0.20217	0.131000|0.131000	0.20780|0.20780	1.714000|1.714000	0.37961|0.37961	1.175000|1.175000	0.42826|0.42826	0.298000|0.298000	0.19748|0.19748	GGA|TGG		PASS	0.498	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		6	201	6	201	---	---	---	---
TRPM4	54795	broad.mit.edu	37	19	49692232	49692232	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr19:49692232G>T	ENST00000252826.5	+	14	2029	c.1903G>T	c.(1903-1905)Gag>Tag	p.E635*	TRPM4_ENST00000427978.2_Nonsense_Mutation_p.E635*|TRPM4_ENST00000355712.5_Nonsense_Mutation_p.E281*	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	635					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)	p.E635*(1)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TCGCAGCAGTGAGGTGAGGGC	0.622																																						uc002pmw.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1903-1905)GAG>TAG		transient receptor potential cation channel,							96.0	103.0	101.0					19																	49692232		2203	4300	6503	SO:0001587	stop_gained	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49692232G>T	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.1903G>T	19.37:g.49692232G>T	ENSP00000252826:p.Glu635*					TRPM4_uc010emu.2_Nonsense_Mutation_p.E635*|TRPM4_uc010yak.1_Nonsense_Mutation_p.E99*|TRPM4_uc002pmx.2_Nonsense_Mutation_p.E461*|TRPM4_uc010emv.2_Nonsense_Mutation_p.E520*|TRPM4_uc010yal.1_Nonsense_Mutation_p.E281*|TRPM4_uc002pmy.2_5'UTR	p.E635*	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	14	1975	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	635			Cytoplasmic (Potential).		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Nonsense_Mutation	SNP	ENST00000252826.5	37	c.1903G>T	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	g	37	6.181770	0.97352	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	.	.	.	4.32	4.32	0.51571	.	0.065549	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-24.3488	16.038	0.80645	0.0:0.0:1.0:0.0	.	.	.	.	X	635;635;281	.	ENSP00000252826:E635X	E	+	1	0	TRPM4	54384044	1.000000	0.71417	0.256000	0.24389	0.041000	0.13682	8.533000	0.90617	2.156000	0.67533	0.455000	0.32223	GAG		PASS	0.622	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		6	96	6	96	---	---	---	---
SIGLEC8	27181	broad.mit.edu	37	19	51958690	51958690	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr19:51958690G>T	ENST00000321424.3	-	4	1099	c.1033C>A	c.(1033-1035)Ctg>Atg	p.L345M	SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.L252M|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.L236M	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	345					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.L345M(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCATTCTGCAGGGAGAGGCTC	0.632																																						uc002pwt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(1033-1035)CTG>ATG		sialic acid binding Ig-like lectin 8 precursor							47.0	46.0	47.0					19																	51958690		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51958690G>T	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1033C>A	19.37:g.51958690G>T	ENSP00000321077:p.Leu345Met					SIGLEC8_uc010yda.1_Missense_Mutation_p.L236M|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Missense_Mutation_p.L252M	p.L345M	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	4	1100	-		all_neural(266;0.0199)	345			Extracellular (Potential).		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.1033C>A	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	13.08	2.131569	0.37630	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.65549	1.19;-0.16;0.96	2.05	-2.16	0.07080	Immunoglobulin-like fold (1);	1.283860	0.06157	N	0.675234	T	0.66208	0.2766	L	0.43554	1.36	0.09310	N	1	D;P;B	0.71674	0.998;0.508;0.425	D;B;B	0.71184	0.972;0.329;0.243	T	0.55655	-0.8107	10	0.72032	D	0.01	.	2.7435	0.05260	0.3904:0.2523:0.3573:0.0	.	236;252;345	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	M	236;345;252	ENSP00000389142:L236M;ENSP00000321077:L345M;ENSP00000339448:L252M	ENSP00000321077:L345M	L	-	1	2	SIGLEC8	56650502	0.000000	0.05858	0.013000	0.15412	0.807000	0.45602	-0.864000	0.04254	-0.420000	0.07427	0.393000	0.25936	CTG		PASS	0.632	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		12	12	12	12	---	---	---	---
ZNF432	9668	broad.mit.edu	37	19	52537242	52537242	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr19:52537242T>A	ENST00000594154.1	-	5	1902	c.1690A>T	c.(1690-1692)Aca>Tca	p.T564S	ZNF432_ENST00000221315.5_Missense_Mutation_p.T564S			O94892	ZN432_HUMAN	zinc finger protein 432	564					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T564S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TTCTCTTCTGTATGAATTTGC	0.398																																						uc002pyk.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|pancreas(1)	3						c.(1690-1692)ACA>TCA		zinc finger protein 432							102.0	97.0	99.0					19																	52537242		2203	4300	6503	SO:0001583	missense	9668				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52537242T>A	AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.1690A>T	19.37:g.52537242T>A	ENSP00000470488:p.Thr564Ser						p.T564S	NM_014650	NP_055465	O94892	ZN432_HUMAN		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)	5	2008	-		all_neural(266;0.117)	564						Missense_Mutation	SNP	ENST00000594154.1	37	c.1690A>T	CCDS12848.1	.	.	.	.	.	.	.	.	.	.	T	8.954	0.968854	0.18659	.	.	ENSG00000256087	ENST00000221315	T	0.07114	3.22	2.96	0.831	0.18860	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08358	0.0208	L	0.58669	1.825	0.09310	N	1	B	0.23442	0.085	B	0.20955	0.032	T	0.34179	-0.9839	9	0.59425	D	0.04	.	3.0205	0.06073	0.1896:0.2424:0.0:0.568	.	564	O94892	ZN432_HUMAN	S	564	ENSP00000221315:T564S	ENSP00000221315:T564S	T	-	1	0	ZNF432	57229054	0.004000	0.15560	0.492000	0.27490	0.782000	0.44232	0.152000	0.16302	0.367000	0.24454	0.533000	0.62120	ACA		PASS	0.398	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650		60	35	60	35	---	---	---	---
ZNF468	90333	broad.mit.edu	37	19	53344201	53344201	+	Missense_Mutation	SNP	T	T	C	rs140223089	byFrequency	TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr19:53344201T>C	ENST00000595646.1	-	4	1466	c.1346A>G	c.(1345-1347)cAg>cGg	p.Q449R	ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Missense_Mutation_p.Q396R|ZNF468_ENST00000396409.4_Missense_Mutation_p.Q396R			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	449					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.Q449R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TGAATCCCTCTGGAAAGCCTT	0.438													-|||	5	0.000998403	0.0015	0.0043	5008	,	,		22769	0.0		0.0	False		,,,				2504	0.0					uc002qaf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1345-1347)CAG>CGG		zinc finger protein ZNF468 isoform 2		T	ARG/GLN,ARG/GLN	5,4401		0,5,2198	132.0	136.0	135.0		1346,1187	-3.6	0.0	19	dbSNP_134	135	0,8600		0,0,4300	no	missense,missense	ZNF468	NM_001008801.1,NM_199132.1	43,43	0,5,6498	CC,CT,TT		0.0,0.1135,0.0384	benign,benign	449/523,396/470	53344201	5,13001	2203	4300	6503	SO:0001583	missense	90333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53344201T>C	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.1346A>G	19.37:g.53344201T>C	ENSP00000470381:p.Gln449Arg					ZNF468_uc002qae.2_Missense_Mutation_p.Q396R	p.Q449R	NM_001008801	NP_001008801	Q5VIY5	ZN468_HUMAN		GBM - Glioblastoma multiforme(134;0.0358)	4	1497	-			449			C2H2-type 9.		A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	c.1346A>G	CCDS33094.1	3|3	0.0013736263736263737|0.0013736263736263737	2|2	0.0040650406504065045|0.0040650406504065045	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	-|-	2.468|2.468	-0.322615|-0.322615	0.05350|0.05350	0.001135|0.001135	0.0|0.0	ENSG00000204604|ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651|ENST00000393865	T;T|.	0.11930|.	2.73;2.73|.	1.88|1.88	-3.59|-3.59	0.04583|0.04583	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.07143|0.07143	0.0181|0.0181	N|N	0.00750|0.00750	-1.22|-1.22	0.09310|0.09310	N|N	1|1	B|.	0.30605|.	0.287|.	B|.	0.34779|.	0.189|.	T|T	0.20974|0.20974	-1.0259|-1.0259	9|6	0.36615|0.87932	T|D	0.2|0	.|.	1.6022|1.6022	0.02676|0.02676	0.1504:0.3075:0.3605:0.1816|0.1504:0.3075:0.3605:0.1816	.|.	449|.	Q5VIY5|.	ZN468_HUMAN|.	R|G	449;396;396|197	ENSP00000379690:Q396R;ENSP00000445669:Q396R|.	ENSP00000243639:Q449R|ENSP00000377444:R197G	Q|R	-|-	2|1	0|2	ZNF468|ZNF468	58036013|58036013	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-2.900000|-2.900000	0.00704|0.00704	-0.789000|-0.789000	0.04498|0.04498	0.336000|0.336000	0.21669|0.21669	CAG|AGA		PASS	0.438	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		39	50	39	50	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55143986	55143986	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr19:55143986C>A	ENST00000396331.1	+	7	1090	c.733C>A	c.(733-735)Cag>Aag	p.Q245K	LILRB1_ENST00000434867.2_Missense_Mutation_p.Q245K|LILRB1_ENST00000396317.1_Missense_Mutation_p.Q245K|LILRB1_ENST00000396327.3_Missense_Mutation_p.Q245K|LILRB1_ENST00000418536.2_Missense_Mutation_p.Q245K|LILRB1_ENST00000324602.7_Missense_Mutation_p.Q245K|LILRB1_ENST00000396315.1_Missense_Mutation_p.Q245K|LILRB1_ENST00000448689.1_Missense_Mutation_p.Q245K|LILRB1_ENST00000396332.4_Missense_Mutation_p.Q245K|LILRB1_ENST00000427581.2_Missense_Mutation_p.Q281K|LILRB1_ENST00000396321.2_Missense_Mutation_p.Q245K	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	245	Ig-like C2-type 3.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)	p.Q245K(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCTGACTCTGCAGTGTGGCTC	0.562										HNSCC(37;0.09)																												uc002qgj.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(733-735)CAG>AAG		leukocyte immunoglobulin-like receptor,							96.0	102.0	100.0					19																	55143986		2203	4300	6503	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143986C>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.733C>A	19.37:g.55143986C>A	ENSP00000379622:p.Gln245Lys	HNSCC(37;0.09)				LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.Q245K|LILRB1_uc002qgk.2_Missense_Mutation_p.Q245K|LILRB1_uc002qgm.2_Missense_Mutation_p.Q245K|LILRB1_uc010erq.2_Missense_Mutation_p.Q245K|LILRB1_uc010err.2_RNA	p.Q245K	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	7	1073	+			245			Ig-like C2-type 3.|Extracellular (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.733C>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.929904	0.34096	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73	1.49	1.49	0.22878	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.798013	0.10674	N	0.647173	T	0.37919	0.1021	M	0.86502	2.82	0.09310	N	1	D;D;D;P;D	0.71674	0.996;0.993;0.997;0.918;0.998	D;D;D;P;D	0.91635	0.975;0.963;0.971;0.882;0.999	T	0.06881	-1.0802	10	0.87932	D	0	.	6.4456	0.21875	0.0:1.0:0.0:0.0	.	245;245;245;245;245	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	K	245;245;245;245;245;245;245;245;281;245;245	ENSP00000379614:Q245K;ENSP00000391514:Q245K;ENSP00000409968:Q245K;ENSP00000379622:Q245K;ENSP00000379618:Q245K;ENSP00000315997:Q245K;ENSP00000405243:Q245K;ENSP00000379623:Q245K;ENSP00000395004:Q281K;ENSP00000379610:Q245K;ENSP00000379608:Q245K	ENSP00000315997:Q245K	Q	+	1	0	LILRB1	59835798	0.012000	0.17670	0.004000	0.12327	0.015000	0.08874	1.380000	0.34351	1.136000	0.42199	0.184000	0.17185	CAG		PASS	0.562	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			27	45	27	45	---	---	---	---
CENPB	1059	broad.mit.edu	37	20	3766901	3766901	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr20:3766901A>T	ENST00000379751.4	-	1	436	c.230T>A	c.(229-231)cTc>cAc	p.L77H	CDC25B_ENST00000379598.5_5'Flank|CDC25B_ENST00000344256.6_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	77	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)	p.L77H(1)		kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CAAGCCCTCGAGCTTGTCGTA	0.642																																						uc002wjk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(229-231)CTC>CAC		centromere protein B							74.0	69.0	71.0					20																	3766901		2203	4300	6503	SO:0001583	missense	1059				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding	g.chr20:3766901A>T	X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"""centromere protein B (80kD)"""			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.230T>A	20.37:g.3766901A>T	ENSP00000369075:p.Leu77His					CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	p.L77H	NM_001810	NP_001801	P07199	CENPB_HUMAN			1	437	-			77			HTH CENPB-type.		Q96EI4	Missense_Mutation	SNP	ENST00000379751.4	37	c.230T>A	CCDS13064.1	.	.	.	.	.	.	.	.	.	.	a	16.19	3.053528	0.55218	.	.	ENSG00000125817	ENST00000379751	T	0.25579	1.79	3.28	3.28	0.37604	Homeodomain-related (1);Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (3);Homeodomain-like (1);	0.000000	0.30235	U	0.010086	T	0.49592	0.1566	M	0.86953	2.85	0.30235	N	0.795537	D	0.89917	1.0	D	0.85130	0.997	T	0.52830	-0.8523	10	0.87932	D	0	.	5.2152	0.15338	0.8594:0.0:0.1406:0.0	.	77	P07199	CENPB_HUMAN	H	77	ENSP00000369075:L77H	ENSP00000369075:L77H	L	-	2	0	CENPB	3714901	0.890000	0.30428	0.995000	0.50966	0.660000	0.38997	0.953000	0.29162	1.153000	0.42468	0.149000	0.16113	CTC		PASS	0.642	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	NM_001810		17	18	17	18	---	---	---	---
MCM8	84515	broad.mit.edu	37	20	5965433	5965433	+	Silent	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr20:5965433G>T	ENST00000378896.3	+	15	2117	c.1740G>T	c.(1738-1740)ggG>ggT	p.G580G	MCM8_ENST00000378886.2_Silent_p.G620G|MCM8_ENST00000265187.4_Silent_p.G564G|MCM8_ENST00000378883.1_Silent_p.G533G	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	580	MCM.				cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.G564G(1)|p.G580G(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						ATAGAATGGGGAGTGCACTAC	0.358																																						uc002wmi.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(1738-1740)GGG>GGT		minichromosome maintenance complex component 8							144.0	132.0	136.0					20																	5965433		2203	4300	6503	SO:0001819	synonymous_variant	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5965433G>T	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.1740G>T	20.37:g.5965433G>T						MCM8_uc002wmj.2_Silent_p.G564G|MCM8_uc002wmk.2_Silent_p.G620G|MCM8_uc002wml.2_Silent_p.G580G|MCM8_uc010gbp.2_Silent_p.G533G|MCM8_uc002wmm.2_Silent_p.G118G	p.G580G	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN			15	2117	+			580			MCM.		B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Silent	SNP	ENST00000378896.3	37	c.1740G>T	CCDS13094.1																																																																																				PASS	0.358	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		14	44	14	44	---	---	---	---
ANKEF1	63926	broad.mit.edu	37	20	10030131	10030131	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr20:10030131G>T	ENST00000378380.3	+	6	1243	c.914G>T	c.(913-915)cGa>cTa	p.R305L	ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.R305L	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	305							calcium ion binding (GO:0005509)	p.R305L(1)									GAAATACGCCGAGCAGAGAGA	0.488																																						uc002wno.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(913-915)CGA>CTA		ankyrin repeat domain protein 5							83.0	92.0	89.0					20																	10030131		2203	4300	6503	SO:0001583	missense	63926						calcium ion binding	g.chr20:10030131G>T	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.914G>T	20.37:g.10030131G>T	ENSP00000367631:p.Arg305Leu					uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Missense_Mutation_p.R305L|ANKRD5_uc010gbz.2_Missense_Mutation_p.R116L	p.R305L	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN			7	1307	+			305					B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	c.914G>T	CCDS13108.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.178250	0.38511	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.67171	-0.25;-0.25	5.86	2.34	0.29019	Ankyrin repeat-containing domain (3);	0.162880	0.53938	D	0.000045	T	0.47340	0.1440	L	0.44542	1.39	0.09310	N	1	P	0.37276	0.589	B	0.25506	0.061	T	0.40156	-0.9578	10	0.42905	T	0.14	-4.2779	5.655	0.17637	0.5825:0.0:0.4175:0.0	.	305	Q9NU02	ANKR5_HUMAN	L	305	ENSP00000367644:R305L;ENSP00000367631:R305L	ENSP00000367631:R305L	R	+	2	0	ANKRD5	9978131	0.992000	0.36948	0.041000	0.18516	0.757000	0.42996	1.990000	0.40717	0.863000	0.35553	0.650000	0.86243	CGA		PASS	0.488	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		5	104	5	104	---	---	---	---
TASP1	55617	broad.mit.edu	37	20	13539738	13539738	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr20:13539738T>C	ENST00000337743.4	-	8	712	c.592A>G	c.(592-594)Aga>Gga	p.R198G	TASP1_ENST00000539805.1_Intron|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	198					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)	p.R198G(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						CTCTTGTTTCTTTTAAATGCA	0.313																																						uc002woi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(592-594)AGA>GGA		taspase 1 precursor							129.0	126.0	127.0					20																	13539738		2203	4300	6503	SO:0001583	missense	55617				asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity	g.chr20:13539738T>C	AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"""chromosome 20 open reading frame 13"""	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.592A>G	20.37:g.13539738T>C	ENSP00000338624:p.Arg198Gly					TASP1_uc010zri.1_Intron|TASP1_uc002woh.2_Missense_Mutation_p.R175G|TASP1_uc010zrj.1_RNA	p.R198G	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN			8	709	-			198					B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Missense_Mutation	SNP	ENST00000337743.4	37	c.592A>G	CCDS13116.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.669190	0.67814	.	.	ENSG00000089123	ENST00000378157;ENST00000337743;ENST00000455532	D;D	0.87491	-2.26;-2.26	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.91533	0.7326	M	0.83384	2.64	0.80722	D	1	P;P	0.50272	0.813;0.933	P;P	0.56343	0.647;0.796	D	0.91996	0.5607	10	0.59425	D	0.04	-17.3473	9.9411	0.41580	0.0:0.0:0.1708:0.8292	.	198;175	Q9H6P5;Q5JWM4	TASP1_HUMAN;.	G	175;198;175	ENSP00000338624:R198G;ENSP00000400580:R175G	ENSP00000338624:R198G	R	-	1	2	TASP1	13487738	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.744000	0.55112	2.142000	0.66516	0.482000	0.46254	AGA		PASS	0.313	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	NM_017714		16	42	16	42	---	---	---	---
RALGAPA2	57186	broad.mit.edu	37	20	20505508	20505508	+	Missense_Mutation	SNP	C	C	T	rs35573277		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr20:20505508C>T	ENST00000202677.7	-	29	3735	c.3728G>A	c.(3727-3729)aGt>aAt	p.S1243N		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1243					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.S1243N(2)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GTACTCTGCACTTGGTAAAAG	0.358																																						uc002wrz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(3727-3729)AGT>AAT		akt substrate AS250							58.0	56.0	57.0					20																	20505508		1896	4115	6011	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20505508C>T	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.3728G>A	20.37:g.20505508C>T	ENSP00000202677:p.Ser1243Asn					RALGAPA2_uc010gcx.2_Missense_Mutation_p.S947N|RALGAPA2_uc010zsg.1_Missense_Mutation_p.S691N|RALGAPA2_uc002wsa.1_Missense_Mutation_p.S15N	p.S1243N	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			29	3871	-			1243					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.3728G>A	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.97|15.97	2.989807|2.989807	0.54041|0.54041	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000202677|ENST00000430436	T|.	0.31510|.	1.49|.	5.5|5.5	4.56|4.56	0.56223|0.56223	.|.	0.099872|.	0.64402|.	N|.	0.000003|.	T|T	0.59155|0.59155	0.2173|0.2173	L|L	0.43152|0.43152	1.355|1.355	0.44024|0.44024	D|D	0.996741|0.996741	B;B;B|.	0.16603|.	0.002;0.018;0.003|.	B;B;B|.	0.22386|.	0.005;0.039;0.005|.	T|T	0.56038|0.56038	-0.8045|-0.8045	10|5	0.35671|.	T|.	0.21|.	.|.	13.975|13.975	0.64268|0.64268	0.0:0.9261:0.0:0.0738|0.0:0.9261:0.0:0.0738	.|.	1081;1243;1243|.	A8MSM5;Q2PPJ7-2;Q2PPJ7|.	.;.;RGPA2_HUMAN|.	N|M	1243|1060	ENSP00000202677:S1243N|.	ENSP00000202677:S1243N|.	S|V	-|-	2|1	0|0	RALGAPA2|RALGAPA2	20453508|20453508	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.487000|4.487000	0.60293|0.60293	1.319000|1.319000	0.45190|0.45190	0.655000|0.655000	0.94253|0.94253	AGT|GTG		PASS	0.358	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		11	18	11	18	---	---	---	---
REM1	28954	broad.mit.edu	37	20	30070289	30070289	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr20:30070289A>T	ENST00000201979.2	+	4	916	c.623A>T	c.(622-624)gAa>gTa	p.E208V		NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	208					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.E208V(1)		kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GTCTCTGTGGAAGGTGAGCCC	0.622																																						uc002wwa.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|pancreas(2)	4						c.(622-624)GAA>GTA		RAS-like GTP-binding protein REM							58.0	55.0	56.0					20																	30070289		2203	4300	6503	SO:0001583	missense	28954				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	g.chr20:30070289A>T	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.623A>T	20.37:g.30070289A>T	ENSP00000201979:p.Glu208Val						p.E208V	NM_014012	NP_054731	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		4	907	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		208					E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	ENST00000201979.2	37	c.623A>T	CCDS13181.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.484754	0.84854	.	.	ENSG00000088320	ENST00000201979	T	0.79352	-1.26	5.01	5.01	0.66863	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.87099	0.6093	M	0.82323	2.585	0.80722	D	1	D	0.56968	0.978	P	0.61533	0.89	D	0.89218	0.3569	10	0.87932	D	0	.	14.0599	0.64793	1.0:0.0:0.0:0.0	.	208	O75628	REM1_HUMAN	V	208	ENSP00000201979:E208V	ENSP00000201979:E208V	E	+	2	0	REM1	29533950	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.089000	0.71384	2.084000	0.62774	0.460000	0.39030	GAA		PASS	0.622	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012		16	27	16	27	---	---	---	---
DDX27	55661	broad.mit.edu	37	20	47849862	47849862	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr20:47849862G>T	ENST00000371764.4	+	10	1153	c.1144G>T	c.(1144-1146)Gag>Tag	p.E382*	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	382	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.E382*(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGAGTACTTTGAGGAGCAGAT	0.557																																						uc002xuh.2																			1	Substitution - Nonsense(1)		lung(1)	kidney(2)	2						c.(1144-1146)GAG>TAG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							83.0	64.0	71.0					20																	47849862		2203	4300	6503	SO:0001587	stop_gained	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47849862G>T	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.1144G>T	20.37:g.47849862G>T	ENSP00000360828:p.Glu382*						p.E382*	NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		10	1205	+			382			Helicase ATP-binding.		A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Nonsense_Mutation	SNP	ENST00000371764.4	37	c.1144G>T	CCDS13416.1	.	.	.	.	.	.	.	.	.	.	G	37	6.111183	0.97291	.	.	ENSG00000124228	ENST00000371764	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-30.8846	17.9218	0.88969	0.0:0.0:1.0:0.0	.	.	.	.	X	382	.	ENSP00000360828:E382X	E	+	1	0	DDX27	47283269	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	9.385000	0.97223	2.837000	0.97791	0.655000	0.94253	GAG		PASS	0.557	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			4	35	4	35	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57829217	57829217	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr20:57829217G>T	ENST00000371030.2	+	5	4453	c.4453G>T	c.(4453-4455)Gac>Tac	p.D1485Y		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1485							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.D1485Y(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCCCCACCATGACATTGCTAC	0.493																																						uc002yan.2																			1	Substitution - Missense(1)		lung(1)	skin(13)|ovary(1)	14						c.(4453-4455)GAC>TAC		zinc finger protein 831							81.0	85.0	84.0					20																	57829217		2018	4192	6210	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57829217G>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4453G>T	20.37:g.57829217G>T	ENSP00000360069:p.Asp1485Tyr						p.D1485Y	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			5	4453	+	all_lung(29;0.0085)		1485					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.4453G>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828845	0.50845	.	.	ENSG00000124203	ENST00000371030	T	0.11277	2.79	5.9	4.95	0.65309	.	0.418955	0.22550	N	0.058609	T	0.26340	0.0643	M	0.64997	1.995	0.09310	N	1	D	0.76494	0.999	D	0.64042	0.921	T	0.05767	-1.0865	10	0.87932	D	0	-6.9736	10.6776	0.45796	0.0864:0.0:0.9136:0.0	.	1485	Q5JPB2	ZN831_HUMAN	Y	1485	ENSP00000360069:D1485Y	ENSP00000360069:D1485Y	D	+	1	0	ZNF831	57262612	0.209000	0.23505	0.002000	0.10522	0.003000	0.03518	3.819000	0.55686	1.499000	0.48617	0.650000	0.86243	GAC		PASS	0.493	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		16	35	16	35	---	---	---	---
ZBTB46	140685	broad.mit.edu	37	20	62407098	62407098	+	Silent	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr20:62407098G>A	ENST00000245663.4	-	3	1305	c.1155C>T	c.(1153-1155)gcC>gcT	p.A385A	ZBTB46_ENST00000302995.2_Silent_p.A385A|ZBTB46_ENST00000395104.1_Silent_p.A385A	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	385					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.A385A(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CCAGCACGTCGGCCTTCAGCG	0.677											OREG0026130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ygv.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1153-1155)GCC>GCT		zinc finger and BTB domain containing 46							52.0	55.0	54.0					20																	62407098		2203	4300	6503	SO:0001819	synonymous_variant	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62407098G>A	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.1155C>T	20.37:g.62407098G>A			OREG0026130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1061	ZBTB46_uc002ygu.2_RNA	p.A385A	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN			3	1356	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		385					E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Silent	SNP	ENST00000245663.4	37	c.1155C>T	CCDS13538.1																																																																																				PASS	0.677	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		14	35	14	35	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10921987	10921987	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr21:10921987C>G	ENST00000361285.4	-	18	1365	c.1036G>C	c.(1036-1038)Gga>Cga	p.G346R	TPTE_ENST00000342420.5_Missense_Mutation_p.G308R|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.G328R	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	346	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.G328R(1)|p.G346R(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACCATAGTTCCTGTTCTATCT	0.328																																						uc002yip.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(1036-1038)GGA>CGA		transmembrane phosphatase with tensin homology							132.0	112.0	118.0					21																	10921987		2203	4299	6502	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10921987C>G	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1036G>C	21.37:g.10921987C>G	ENSP00000355208:p.Gly346Arg					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.G328R|TPTE_uc002yir.1_Missense_Mutation_p.G308R|TPTE_uc010gkv.1_Missense_Mutation_p.G208R	p.G346R	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	18	1404	-			346			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1036G>C	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	9.945	1.218509	0.22373	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.99563	-6.17;-6.17;-6.17	2.26	2.26	0.28386	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99704	0.9887	H	0.98256	4.185	0.51482	D	0.999929	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98005	1.0362	10	0.87932	D	0	-17.8828	8.1577	0.31178	0.0:1.0:0.0:0.0	.	308;328;346	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	R	328;346;308	ENSP00000298232:G328R;ENSP00000355208:G346R;ENSP00000344441:G308R	ENSP00000298232:G328R	G	-	1	0	TPTE	9943858	1.000000	0.71417	0.971000	0.41717	0.009000	0.06853	3.592000	0.53993	1.307000	0.44944	0.121000	0.15741	GGA		PASS	0.328	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			5	40	5	40	---	---	---	---
TRPM2	7226	broad.mit.edu	37	21	45815303	45815303	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr21:45815303G>C	ENST00000397928.1	+	12	2246	c.1801G>C	c.(1801-1803)Gga>Cga	p.G601R	TRPM2_ENST00000300482.5_Missense_Mutation_p.G601R|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.G581R|TRPM2_ENST00000397932.2_Missense_Mutation_p.G601R	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	601					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)	p.G601R(1)		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						CCAGGTGCAGGGAGTGAGCCT	0.637																																						uc002zet.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1801-1803)GGA>CGA		transient receptor potential cation channel,							89.0	77.0	81.0					21																	45815303		2203	4297	6500	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45815303G>C	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.1801G>C	21.37:g.45815303G>C	ENSP00000381023:p.Gly601Arg					TRPM2_uc002zeu.1_Missense_Mutation_p.G601R|TRPM2_uc002zew.1_Missense_Mutation_p.G601R|TRPM2_uc010gpt.1_Missense_Mutation_p.G601R|TRPM2_uc002zex.1_Missense_Mutation_p.G387R|TRPM2_uc002zey.1_Missense_Mutation_p.G114R	p.G601R	NM_003307	NP_003298	O94759	TRPM2_HUMAN			13	2014	+			601			Cytoplasmic (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.1801G>C	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.483941	0.44147	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	4.32	4.32	0.51571	.	0.646369	0.15645	N	0.251701	T	0.65176	0.2666	M	0.72118	2.19	0.80722	D	1	D;P;P	0.55605	0.972;0.831;0.949	P;B;P	0.47470	0.548;0.319;0.548	T	0.70985	-0.4723	10	0.52906	T	0.07	-5.4889	17.1831	0.86859	0.0:0.0:1.0:0.0	.	601;387;601	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	R	601;601;581;601	ENSP00000300482:G601R;ENSP00000381023:G601R;ENSP00000300481:G581R;ENSP00000381026:G601R	ENSP00000300481:G581R	G	+	1	0	TRPM2	44639731	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.662000	0.37418	2.129000	0.65627	0.491000	0.48974	GGA		PASS	0.637	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		24	41	24	41	---	---	---	---
CECR2	27443	broad.mit.edu	37	22	18020401	18020401	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr22:18020401G>A	ENST00000400585.2	+	14	1745	c.1307G>A	c.(1306-1308)cGg>cAg	p.R436Q	CECR2_ENST00000400573.5_Missense_Mutation_p.R577Q|CECR2_ENST00000262608.8_Missense_Mutation_p.R578Q			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	619					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)		p.R577Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CAGCCCCCGCGGGAGGTGGGC	0.587																																						uc010gqw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1729-1731)CGG>CAG		cat eye syndrome chromosome region, candidate 2							46.0	54.0	51.0					22																	18020401		1926	4120	6046	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18020401G>A	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1307G>A	22.37:g.18020401G>A	ENSP00000383428:p.Arg436Gln					CECR2_uc010gqv.1_Missense_Mutation_p.R436Q|CECR2_uc002zml.2_Missense_Mutation_p.R436Q	p.R577Q	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	13	1856	+		all_epithelial(15;0.139)	619					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.1730G>A		.	.	.	.	.	.	.	.	.	.	G	10.32	1.316824	0.23908	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.25579	1.91;1.9;1.79	5.74	2.46	0.29980	.	0.652433	0.13195	N	0.406420	T	0.22820	0.0551	L	0.60455	1.87	0.09310	N	1	B;B;B	0.19073	0.033;0.033;0.033	B;B;B	0.08055	0.003;0.003;0.003	T	0.27773	-1.0064	10	0.19590	T	0.45	-3.7612	8.824	0.35043	0.137:0.1284:0.7347:0.0	.	619;436;577	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	Q	436;577;578	ENSP00000383428:R436Q;ENSP00000383417:R577Q;ENSP00000262608:R578Q	ENSP00000262608:R578Q	R	+	2	0	CECR2	16400401	0.001000	0.12720	0.053000	0.19242	0.098000	0.18820	0.633000	0.24598	0.333000	0.23563	0.491000	0.48974	CGG		PASS	0.587	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		17	19	17	19	---	---	---	---
CECR2	27443	broad.mit.edu	37	22	18022205	18022205	+	Silent	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr22:18022205G>A	ENST00000400585.2	+	16	2322	c.1884G>A	c.(1882-1884)aaG>aaA	p.K628K	CECR2_ENST00000400573.5_Silent_p.K769K|CECR2_ENST00000262608.8_Silent_p.K770K			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	811					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)		p.K769K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CAGATGAGAAGCCCCACCTGG	0.577																																						uc010gqw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(2305-2307)AAG>AAA		cat eye syndrome chromosome region, candidate 2							43.0	49.0	47.0					22																	18022205		1961	4134	6095	SO:0001819	synonymous_variant	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022205G>A	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1884G>A	22.37:g.18022205G>A						CECR2_uc010gqv.1_Silent_p.K628K|CECR2_uc002zml.2_Silent_p.K628K	p.K769K	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2433	+		all_epithelial(15;0.139)	811					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Silent	SNP	ENST00000400585.2	37	c.2307G>A																																																																																					PASS	0.577	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		11	15	11	15	---	---	---	---
TUBA8	51807	broad.mit.edu	37	22	18609431	18609431	+	Missense_Mutation	SNP	G	G	T	rs372238980		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr22:18609431G>T	ENST00000330423.3	+	4	759	c.686G>T	c.(685-687)cGc>cTc	p.R229L	TUBA8_ENST00000316027.6_Missense_Mutation_p.R163L	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	229					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R229L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						AACCTCAACCGCCTCATCAGT	0.522																																						uc002znv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(685-687)CGC>CTC		tubulin, alpha 8							151.0	133.0	139.0					22																	18609431		2203	4300	6503	SO:0001583	missense	51807				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr22:18609431G>T	AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"""Tubulins"""	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.686G>T	22.37:g.18609431G>T	ENSP00000333326:p.Arg229Leu					TUBA8_uc002znr.2_Missense_Mutation_p.R163L|TUBA8_uc002znw.1_Missense_Mutation_p.R253L|TUBA8_uc002znx.1_Missense_Mutation_p.R76L	p.R229L	NM_018943	NP_061816	Q9NY65	TBA8_HUMAN			4	759	+			229					B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	ENST00000330423.3	37	c.686G>T	CCDS13751.1	.	.	.	.	.	.	.	.	.	.	.	15.57	2.872931	0.51695	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	T;T;T	0.69040	-0.37;-0.37;-0.37	5.67	5.67	0.87782	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.85682	D	0.000000	T	0.81317	0.4797	M	0.89658	3.05	0.80722	D	1	P;D;P	0.54047	0.949;0.964;0.931	P;P;P	0.51453	0.67;0.576;0.505	D	0.85156	0.0989	10	0.87932	D	0	.	19.1191	0.93355	0.0:0.0:1.0:0.0	.	163;253;229	B3KPW9;C9J2C0;Q9NY65	.;.;TBA8_HUMAN	L	163;229;253	ENSP00000318575:R163L;ENSP00000333326:R229L;ENSP00000412646:R253L	ENSP00000318575:R163L	R	+	2	0	TUBA8	16989431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.837000	0.97791	0.655000	0.94253	CGC		PASS	0.522	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	NM_018943		4	45	4	45	---	---	---	---
CSF2RB	1439	broad.mit.edu	37	22	37334270	37334270	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr22:37334270C>T	ENST00000403662.3	+	14	2642	c.2420C>T	c.(2419-2421)tCc>tTc	p.S807F	CSF2RB_ENST00000262825.5_Missense_Mutation_p.S813F|CSF2RB_ENST00000406230.1_Missense_Mutation_p.S813F|CSF2RB_ENST00000536485.1_Missense_Mutation_p.S754F			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	807					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.S807F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TCCCCAACATCCCCACAGCCC	0.657																																						uc003aqa.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|pancreas(1)	3						c.(2419-2421)TCC>TTC		colony stimulating factor 2 receptor, beta	Sargramostim(DB00020)						70.0	76.0	74.0					22																	37334270		2203	4300	6503	SO:0001583	missense	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37334270C>T	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.2420C>T	22.37:g.37334270C>T	ENSP00000384053:p.Ser807Phe					CSF2RB_uc003aqc.3_Missense_Mutation_p.S813F	p.S807F	NM_000395	NP_000386	P32927	IL3RB_HUMAN			14	2637	+			807			Cytoplasmic (Potential).		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	c.2420C>T	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.865217	0.32977	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.92911	-2.62;-3.13;-3.13;-3.13	5.5	4.28	0.50868	.	0.705098	0.12522	N	0.461579	D	0.94407	0.8201	M	0.67953	2.075	0.09310	N	1	B;D	0.76494	0.004;0.999	B;D	0.66196	0.008;0.942	D	0.86836	0.2014	10	0.49607	T	0.09	-23.2629	10.0835	0.42404	0.0:0.8942:0.0:0.1058	.	813;807	P32927-2;P32927	.;IL3RB_HUMAN	F	807;807;813;813;754	ENSP00000384053:S807F;ENSP00000262825:S813F;ENSP00000385271:S813F;ENSP00000440003:S754F	ENSP00000262825:S813F	S	+	2	0	CSF2RB	35664216	0.001000	0.12720	0.027000	0.17364	0.171000	0.22731	0.966000	0.29331	2.580000	0.87095	0.555000	0.69702	TCC		PASS	0.657	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		14	31	14	31	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42609195	42609195	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr22:42609195C>T	ENST00000359486.3	-	1	2253	c.2117G>A	c.(2116-2118)cGc>cAc	p.R706H	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Missense_Mutation_p.R706H	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	706					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R706H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GTAACTATAGCGCAGACTTCC	0.507																																						uc003bcj.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(2116-2118)CGC>CAC		transcription factor 20 isoform 1							133.0	129.0	130.0					22																	42609195		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42609195C>T	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.2117G>A	22.37:g.42609195C>T	ENSP00000352463:p.Arg706His					TCF20_uc003bck.1_Missense_Mutation_p.R706H|TCF20_uc003bnt.2_Missense_Mutation_p.R706H	p.R706H	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN			1	2251	-			706					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.2117G>A	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469607	0.63625	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.61274	0.13;0.12	5.93	4.91	0.64330	.	0.080476	0.51477	D	0.000093	T	0.59715	0.2214	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.62955	0.909;0.813	T	0.62034	-0.6939	10	0.54805	T	0.06	-13.6333	14.5371	0.67969	0.0:0.9303:0.0:0.0697	.	706;706	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	H	706	ENSP00000352463:R706H;ENSP00000335561:R706H	ENSP00000335561:R706H	R	-	2	0	TCF20	40939139	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.132000	0.57977	2.805000	0.96524	0.655000	0.94253	CGC		PASS	0.507	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		36	67	36	67	---	---	---	---
PARVB	29780	broad.mit.edu	37	22	44514978	44514978	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr22:44514978G>T	ENST00000338758.7	+	4	397	c.334G>T	c.(334-336)Gag>Tag	p.E112*	PARVB_ENST00000406477.3_Nonsense_Mutation_p.E145*|PARVB_ENST00000404989.1_Nonsense_Mutation_p.E75*	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	112	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)		p.E145*(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GAAGCAGCTGGAGGAAGACCT	0.602																																						uc003ben.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(334-336)GAG>TAG		parvin, beta isoform b							192.0	164.0	174.0					22																	44514978		2203	4300	6503	SO:0001587	stop_gained	29780				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	g.chr22:44514978G>T	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"""Parvins"""	14653	protein-coding gene	gene with protein product	"""affixin"""	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.334G>T	22.37:g.44514978G>T	ENSP00000342492:p.Glu112*					PARVB_uc003bem.2_Nonsense_Mutation_p.E145*|PARVB_uc010gzn.2_Nonsense_Mutation_p.E60*|PARVB_uc003beo.2_Nonsense_Mutation_p.E75*	p.E112*	NM_013327	NP_037459	Q9HBI1	PARVB_HUMAN			4	386	+		Ovarian(80;0.0246)|all_neural(38;0.0423)	112			CH 1.		B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Nonsense_Mutation	SNP	ENST00000338758.7	37	c.334G>T	CCDS14056.1	.	.	.	.	.	.	.	.	.	.	G	32	5.148654	0.94603	.	.	ENSG00000188677	ENST00000406477;ENST00000338758;ENST00000402876;ENST00000444029;ENST00000404989	.	.	.	4.92	4.92	0.64577	.	0.102892	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-5.3799	15.604	0.76649	0.0:0.0:1.0:0.0	.	.	.	.	X	145;112;112;110;75	.	ENSP00000342492:E112X	E	+	1	0	PARVB	42846311	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	8.981000	0.93465	2.265000	0.75225	0.655000	0.94253	GAG		PASS	0.602	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319518.2	NM_001003828		18	39	18	39	---	---	---	---
GLRA2	2742	broad.mit.edu	37	X	14708972	14708972	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chrX:14708972G>T	ENST00000218075.4	+	8	1601	c.1071G>T	c.(1069-1071)agG>agT	p.R357S	GLRA2_ENST00000355020.4_Missense_Mutation_p.R357S|GLRA2_ENST00000443437.2_Missense_Mutation_p.R268S	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	357					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.R357S(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	GACAGAAGAGGCAGAATAAGG	0.468																																						uc010nep.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(1069-1071)AGG>AGT		glycine receptor, alpha 2 isoform A	Ethanol(DB00898)|Glycine(DB00145)						118.0	96.0	104.0					X																	14708972		2203	4300	6503	SO:0001583	missense	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14708972G>T		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.1071G>T	X.37:g.14708972G>T	ENSP00000218075:p.Arg357Ser					GLRA2_uc010neq.2_Missense_Mutation_p.R357S|GLRA2_uc004cwe.3_Missense_Mutation_p.R357S|GLRA2_uc011mio.1_Missense_Mutation_p.R268S|GLRA2_uc011mip.1_Missense_Mutation_p.R335S	p.R357S	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN			9	1403	+	Hepatocellular(33;0.128)		357			Cytoplasmic (Probable).		A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	ENST00000218075.4	37	c.1071G>T	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817585	0.32145	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020	D;D;D	0.81908	-1.55;-1.55;-1.55	5.0	1.12	0.20585	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.520308	0.21259	N	0.077509	T	0.76933	0.4057	N	0.04203	-0.255	0.58432	D	0.999999	B;D;B	0.59357	0.146;0.985;0.004	B;D;B	0.69824	0.232;0.966;0.008	T	0.72940	-0.4139	10	0.37606	T	0.19	.	9.4445	0.38688	0.4681:0.0:0.5319:0.0	.	341;357;357	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	S	268;357;357	ENSP00000387756:R268S;ENSP00000218075:R357S;ENSP00000347123:R357S	ENSP00000218075:R357S	R	+	3	2	GLRA2	14618893	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	2.113000	0.41902	0.099000	0.17552	0.422000	0.28245	AGG		PASS	0.468	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			29	19	29	19	---	---	---	---
CNKSR2	22866	broad.mit.edu	37	X	21545097	21545097	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chrX:21545097C>A	ENST00000379510.3	+	10	1106	c.1070C>A	c.(1069-1071)cCt>cAt	p.P357H	CNKSR2_ENST00000543067.1_Missense_Mutation_p.P308H|CNKSR2_ENST00000279451.4_Missense_Mutation_p.P357H|CNKSR2_ENST00000425654.2_Missense_Mutation_p.P357H	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	357	DUF1170.|Poly-Pro.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.P357H(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CCCCCTCCTCCTGCAGAACCA	0.473																																						uc004czx.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)	2						c.(1069-1071)CCT>CAT		connector enhancer of kinase suppressor of Ras							196.0	191.0	193.0					X																	21545097		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21545097C>A	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.1070C>A	X.37:g.21545097C>A	ENSP00000368824:p.Pro357His					CNKSR2_uc004czw.2_Missense_Mutation_p.P357H|CNKSR2_uc011mjn.1_Missense_Mutation_p.P308H|CNKSR2_uc011mjo.1_Missense_Mutation_p.P357H|CNKSR2_uc004czy.2_Translation_Start_Site	p.P357H	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN			10	1106	+			357			Poly-Pro.|DUF1170.		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.1070C>A	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585295	0.86748	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.23754	2.29;1.89;1.92;2.21	5.58	5.58	0.84498	Connector enhancer of kinase suppressor of ras 2 (1);	0.000000	0.85682	D	0.000000	T	0.52821	0.1758	M	0.72118	2.19	0.54753	D	0.999985	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.75484	0.975;0.975;0.986	T	0.55471	-0.8136	10	0.72032	D	0.01	-15.8257	18.6075	0.91272	0.0:1.0:0.0:0.0	.	357;308;357	B7ZLJ1;B4DGR4;Q8WXI2	.;.;CNKR2_HUMAN	H	357;308;357;357	ENSP00000397906:P357H;ENSP00000444633:P308H;ENSP00000279451:P357H;ENSP00000368824:P357H	ENSP00000279451:P357H	P	+	2	0	CNKSR2	21455018	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.661000	0.68025	2.338000	0.79540	0.544000	0.68410	CCT		PASS	0.473	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		6	154	6	154	---	---	---	---
CNKSR2	22866	broad.mit.edu	37	X	21609254	21609254	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chrX:21609254G>T	ENST00000379510.3	+	15	1808	c.1772G>T	c.(1771-1773)tGg>tTg	p.W591L	CNKSR2_ENST00000543067.1_Missense_Mutation_p.W542L|CNKSR2_ENST00000279451.4_Missense_Mutation_p.W591L|CNKSR2_ENST00000425654.2_Missense_Mutation_p.W561L	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	591	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.W591L(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TCACAGAAATGGAAAAAATAT	0.378																																						uc004czx.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)	2						c.(1771-1773)TGG>TTG		connector enhancer of kinase suppressor of Ras							114.0	108.0	110.0					X																	21609254		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21609254G>T	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.1772G>T	X.37:g.21609254G>T	ENSP00000368824:p.Trp591Leu					CNKSR2_uc004czw.2_Missense_Mutation_p.W591L|CNKSR2_uc011mjn.1_Missense_Mutation_p.W542L|CNKSR2_uc011mjo.1_Missense_Mutation_p.W561L|CNKSR2_uc004czy.2_Missense_Mutation_p.W183L	p.W591L	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN			15	1808	+			591			PH.		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.1772G>T	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867888	0.91587	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.29	5.29	0.74685	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.69079	0.3071	H	0.95611	3.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.998;1.0	T	0.80384	-0.1405	10	0.87932	D	0	-9.2971	18.1345	0.89614	0.0:0.0:1.0:0.0	.	561;542;183;591	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	L	561;542;591;591	ENSP00000397906:W561L;ENSP00000444633:W542L;ENSP00000279451:W591L;ENSP00000368824:W591L	ENSP00000279451:W591L	W	+	2	0	CNKSR2	21519175	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.219000	0.72066	0.523000	0.50628	TGG		PASS	0.378	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		5	47	5	47	---	---	---	---
MAGEB4	4115	broad.mit.edu	37	X	30260360	30260360	+	Silent	SNP	A	A	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chrX:30260360A>G	ENST00000378982.2	+	1	304	c.108A>G	c.(106-108)gaA>gaG	p.E36E	MAGEB1_ENST00000397550.1_5'Flank|MAGEB1_ENST00000378981.3_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	36								p.E36E(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CAGAGAAAGAAGAGTCTCCTT	0.572																																						uc004dcb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(106-108)GAA>GAG		melanoma antigen family B, 4							110.0	92.0	99.0					X																	30260360		2202	4300	6502	SO:0001819	synonymous_variant	4115							g.chrX:30260360A>G		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.108A>G	X.37:g.30260360A>G						MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	p.E36E	NM_002367	NP_002358	O15481	MAGB4_HUMAN			1	192	+			36					B2R9G0|Q6FHH4|Q8IZ00	Silent	SNP	ENST00000378982.2	37	c.108A>G	CCDS14221.1																																																																																				PASS	0.572	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		8	6	8	6	---	---	---	---
FAM47C	442444	broad.mit.edu	37	X	37027451	37027451	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chrX:37027451C>T	ENST00000358047.3	+	1	1020	c.968C>T	c.(967-969)tCt>tTt	p.S323F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	323								p.S323F(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCAGAGCCTTCTGAGACTGGA	0.612																																						uc004ddl.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(967-969)TCT>TTT		hypothetical protein LOC442444							89.0	80.0	83.0					X																	37027451		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37027451C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.968C>T	X.37:g.37027451C>T	ENSP00000367913:p.Ser323Phe						p.S323F	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	982	+			323					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.968C>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	c	9.056	0.993249	0.19043	.	.	ENSG00000198173	ENST00000358047	T	0.14266	2.52	0.951	0.951	0.19579	.	.	.	.	.	T	0.17619	0.0423	L	0.34521	1.04	0.20403	N	0.999909	D	0.57571	0.98	P	0.55713	0.782	T	0.13495	-1.0507	9	0.72032	D	0.01	.	7.6353	0.28264	0.0:0.9999:0.0:1.0E-4	.	323	Q5HY64	FA47C_HUMAN	F	323	ENSP00000367913:S323F	ENSP00000367913:S323F	S	+	2	0	FAM47C	36937372	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	0.284000	0.18864	0.181000	0.19994	0.183000	0.17082	TCT		PASS	0.612	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		29	14	29	14	---	---	---	---
FAM47C	442444	broad.mit.edu	37	X	37028697	37028697	+	Silent	SNP	C	C	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chrX:37028697C>T	ENST00000358047.3	+	1	2266	c.2214C>T	c.(2212-2214)ctC>ctT	p.L738L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	738								p.L738L(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGTCCCATCTCCGCCCAGAGC	0.632																																						uc004ddl.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(2212-2214)CTC>CTT		hypothetical protein LOC442444							48.0	47.0	47.0					X																	37028697		2202	4300	6502	SO:0001819	synonymous_variant	442444							g.chrX:37028697C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2214C>T	X.37:g.37028697C>T							p.L738L	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	2228	+			738					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.2214C>T	CCDS35227.1																																																																																				PASS	0.632	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		25	10	25	10	---	---	---	---
KDM6A	7403	broad.mit.edu	37	X	44929602	44929602	+	Splice_Site	SNP	G	G	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chrX:44929602G>A	ENST00000377967.4	+	17	2743	c.2702G>A	c.(2701-2703)aGg>aAg	p.R901K	KDM6A_ENST00000543216.1_Splice_Site_p.R822K|KDM6A_ENST00000536777.1_Splice_Site_p.R856K|KDM6A_ENST00000382899.4_Splice_Site_p.R908K	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	901	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.R901K(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AAGGCATGCAGGTTAGTGTGG	0.418			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3				Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		7	Whole gene deletion(6)|Substitution - Missense(1)		oesophagus(2)|breast(2)|pancreas(2)|lung(1)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(2701-2703)AGG>AAG		ubiquitously transcribed tetratricopeptide							29.0	27.0	28.0					X																	44929602		2201	4297	6498	SO:0001630	splice_region_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44929602G>A	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2702+1G>A	X.37:g.44929602G>A						KDM6A_uc010nhk.2_Missense_Mutation_p.R867K|KDM6A_uc011mkz.1_Missense_Mutation_p.R953K|KDM6A_uc011mla.1_Missense_Mutation_p.R856K|KDM6A_uc011mlb.1_Missense_Mutation_p.R908K|KDM6A_uc011mlc.1_Missense_Mutation_p.R605K|KDM6A_uc011mld.1_Missense_Mutation_p.R540K	p.R901K	NM_021140	NP_066963	O15550	KDM6A_HUMAN			17	3077	+			901					Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.2702G>A	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367196	0.61513	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33	4.95	4.95	0.65309	.	0.043370	0.85682	D	0.000000	D	0.84737	0.5538	L	0.33093	0.98	0.80722	D	1	P;D;B;P;B;D	0.67145	0.956;0.959;0.189;0.589;0.394;0.996	P;D;P;B;B;D	0.77004	0.899;0.937;0.493;0.347;0.327;0.989	D	0.85273	0.1057	10	0.44086	T	0.13	-9.6295	17.4764	0.87660	0.0:0.0:1.0:0.0	.	540;908;856;953;867;901	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.;.;.;.;.;KDM6A_HUMAN	K	598;901;856;908;822	ENSP00000367203:R901K;ENSP00000437405:R856K;ENSP00000372355:R908K;ENSP00000443078:R822K	ENSP00000334340:R598K	R	+	2	0	KDM6A	44814546	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.416000	0.97383	2.054000	0.61138	0.544000	0.68410	AGG		PASS	0.418	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	Missense_Mutation	8	6	8	6	---	---	---	---
ZNF81	347344	broad.mit.edu	37	X	47774986	47774986	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chrX:47774986A>G	ENST00000376954.1	+	6	1309	c.941A>G	c.(940-942)aAg>aGg	p.K314R	ZNF81_ENST00000338637.7_Missense_Mutation_p.K314R			P51508	ZNF81_HUMAN	zinc finger protein 81	314					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K314R(1)		breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TTTACACAGAAGCCACTACTC	0.353																																						uc010nhy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(940-942)AAG>AGG		zinc finger protein 81							30.0	28.0	29.0					X																	47774986		1840	4093	5933	SO:0001583	missense	347344					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47774986A>G	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.941A>G	X.37:g.47774986A>G	ENSP00000366153:p.Lys314Arg						p.K314R	NM_007137	NP_009068	P51508	ZNF81_HUMAN			6	1309	+		all_lung(315;0.0973)	314					Q6RX22|Q96QH6	Missense_Mutation	SNP	ENST00000376954.1	37	c.941A>G	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	A	14.64	2.595626	0.46318	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.15834	2.39;2.39	4.16	4.16	0.48862	.	0.000000	0.42964	D	0.000634	T	0.09862	0.0242	N	0.11698	0.16	0.20196	N	0.999921	D	0.53885	0.963	B	0.44224	0.444	T	0.20306	-1.0279	10	0.17832	T	0.49	.	10.5525	0.45097	1.0:0.0:0.0:0.0	.	314	P51508	ZNF81_HUMAN	R	314	ENSP00000366153:K314R;ENSP00000341151:K314R	ENSP00000341151:K314R	K	+	2	0	ZNF81	47659930	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	0.049000	0.14099	1.853000	0.53794	0.486000	0.48141	AAG		PASS	0.353	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137		11	4	11	4	---	---	---	---
TAF1	6872	broad.mit.edu	37	X	70612518	70612519	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chrX:70612518_70612519GG>TT	ENST00000373790.4	+	19	2929_2930	c.2878_2879GG>TT	c.(2878-2880)GGt>TTt	p.G960F	TAF1_ENST00000423759.1_Missense_Mutation_p.G981F|TAF1_ENST00000276072.3_Missense_Mutation_p.G981F|TAF1_ENST00000449580.1_Missense_Mutation_p.G960F	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	960	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.G981V(1)|p.G960C(1)|p.G960F(1)|p.G981C(1)|p.G981F(1)|p.G960V(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CACGGGGTGTGGTGAAGGATTC	0.49																																						uc004dzu.3																			6	Substitution - Missense(6)		lung(6)	ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17						c.(2878-2880)GGT>TGT|c.(2878-2880)GGT>GTT		TBP-associated factor 1 isoform 2																																				SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70612518G>T|g.chrX:70612519G>T		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	Exception_encountered	X.37:g.70612518_70612519delinsTT	ENSP00000362895:p.Gly960Phe					BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.G981C|TAF1_uc004dzv.3_Missense_Mutation_p.G134C|BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.G981V|TAF1_uc004dzv.3_Missense_Mutation_p.G134V	p.G960C|p.G960V	NM_138923	NP_620278	P21675	TAF1_HUMAN			19	2929|2930	+	Renal(35;0.156)	all_lung(315;0.000321)	960					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.2878G>T|c.2879G>T	CCDS35325.1																																																																																				PASS	0.490	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		14|13	10	13	10	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91090613	91090613	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chrX:91090613A>T	ENST00000373094.1	+	1	955	c.110A>T	c.(109-111)aAc>aTc	p.N37I	PCDH11X_ENST00000406881.1_Missense_Mutation_p.N37I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.N37I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.N37I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.N37I|PCDH11X_ENST00000504220.2_Missense_Mutation_p.N37I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.N37I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.N37I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.N37I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	37	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N37I(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATGCCAGAAAACGTCCTGATA	0.493																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(109-111)AAC>ATC		protocadherin 11 X-linked isoform c							157.0	117.0	131.0					X																	91090613		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090613A>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.110A>T	X.37:g.91090613A>T	ENSP00000362186:p.Asn37Ile					PCDH11X_uc004efl.1_Missense_Mutation_p.N37I|PCDH11X_uc004efo.1_Missense_Mutation_p.N37I|PCDH11X_uc010nmv.1_Missense_Mutation_p.N37I|PCDH11X_uc004efm.1_Missense_Mutation_p.N37I|PCDH11X_uc004efn.1_Missense_Mutation_p.N37I|PCDH11X_uc004efh.1_Missense_Mutation_p.N37I|PCDH11X_uc004efj.1_Missense_Mutation_p.N37I	p.N37I	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			1	955	+			37			Extracellular (Potential).|Cadherin 1.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.110A>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	A	18.82	3.704294	0.68615	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67	3.93	3.93	0.45458	Cadherin, N-terminal (1);Cadherin (2);	0.000000	0.85682	D	0.000000	T	0.54224	0.1845	M	0.78801	2.425	0.50171	D	0.999857	D;D;D;D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.984;1.0;1.0;1.0;1.0;1.0;1.0	T	0.59742	-0.7397	10	0.87932	D	0	.	11.4509	0.50151	1.0:0.0:0.0:0.0	.	37;37;37;37;37;37;37;37	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	I	37	ENSP00000378746:N37I;ENSP00000362186:N37I;ENSP00000362189:N37I;ENSP00000355040:N37I;ENSP00000362180:N37I;ENSP00000423762:N37I;ENSP00000355105:N37I;ENSP00000384758:N37I;ENSP00000298274:N37I	ENSP00000298274:N37I	N	+	2	0	PCDH11X	90977269	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.349000	0.90067	1.555000	0.49500	0.339000	0.21740	AAC		PASS	0.493	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		18	14	18	14	---	---	---	---
ARMCX1	51309	broad.mit.edu	37	X	100808631	100808631	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chrX:100808631C>A	ENST00000372829.3	+	4	1089	c.718C>A	c.(718-720)Cag>Aag	p.Q240K		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	240						integral component of membrane (GO:0016021)		p.Q240K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						TTCATTTAACCAGAATGCCAT	0.393																																						uc004ehv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(718-720)CAG>AAG		armadillo repeat containing, X-linked 1							155.0	148.0	150.0					X																	100808631		2203	4300	6503	SO:0001583	missense	51309					integral to membrane	binding	g.chrX:100808631C>A	AB039670	CCDS14487.1	Xq21.33-q22.2	2014-03-21			ENSG00000126947	ENSG00000126947		"""Armadillo repeat containing"""	18073	protein-coding gene	gene with protein product		300362				11162520, 16221301, 22569362	Standard	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	Q9P291	OTTHUMG00000022033	ENST00000372829.3:c.718C>A	X.37:g.100808631C>A	ENSP00000361917:p.Gln240Lys					ARMCX1_uc004ehw.2_Missense_Mutation_p.Q240K	p.Q240K	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN			4	1089	+			240			ARM 2.		Q53HK2|Q9H2Q0	Missense_Mutation	SNP	ENST00000372829.3	37	c.718C>A	CCDS14487.1	.	.	.	.	.	.	.	.	.	.	c	17.60	3.430256	0.62844	.	.	ENSG00000126947	ENST00000372829	T	0.36340	1.26	3.92	3.92	0.45320	Armadillo-like helical (1);Armadillo-type fold (1);	0.059480	0.64402	D	0.000002	T	0.50752	0.1634	L	0.58510	1.815	0.39635	D	0.970235	D	0.69078	0.997	D	0.69654	0.965	T	0.51036	-0.8756	10	0.44086	T	0.13	-10.265	10.3409	0.43877	0.0:1.0:0.0:0.0	.	240	Q9P291	ARMX1_HUMAN	K	240	ENSP00000361917:Q240K	ENSP00000361917:Q240K	Q	+	1	0	ARMCX1	100695287	0.998000	0.40836	1.000000	0.80357	0.985000	0.73830	2.211000	0.42825	2.198000	0.70561	0.544000	0.68410	CAG		PASS	0.393	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057561.1	NM_016608		5	110	5	110	---	---	---	---
TEX13A	56157	broad.mit.edu	37	X	104464313	104464313	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chrX:104464313C>A	ENST00000413579.1	-	3	676	c.565G>T	c.(565-567)Gga>Tga	p.G189*	TEX13A_ENST00000372575.1_Nonsense_Mutation_p.G189*|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_Nonsense_Mutation_p.G189*			Q9BXU3	TX13A_HUMAN	testis expressed 13A	189							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCTTTTCCTCCAGCAGCACCA	0.667																																						uc004ema.2																			0				ovary(2)	2						c.(565-567)GGA>TGA		testis expressed sequence 13A							26.0	31.0	29.0					X																	104464313		2128	4186	6314	SO:0001587	stop_gained	56157					intracellular	zinc ion binding	g.chrX:104464313C>A	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.565G>T	X.37:g.104464313C>A	ENSP00000399753:p.Gly189*					IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Nonsense_Mutation_p.G189*	p.G189*	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN			3	677	-			189					B1B1G8|Q32NB6	Nonsense_Mutation	SNP	ENST00000413579.1	37	c.565G>T		.	.	.	.	.	.	.	.	.	.	C	15.38	2.817312	0.50633	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	2.08	2.08	0.27032	.	1.861920	0.03504	N	0.218497	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	7.1036	0.25351	0.0:1.0:0.0:0.0	.	.	.	.	X	189	.	ENSP00000361656:G189X	G	-	1	0	TEX13A	104350969	0.000000	0.05858	0.001000	0.08648	0.037000	0.13140	-1.530000	0.02221	1.362000	0.46000	0.436000	0.28706	GGA		PASS	0.667	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		7	9	7	9	---	---	---	---
GLUD2	2747	broad.mit.edu	37	X	120182460	120182460	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chrX:120182460G>T	ENST00000328078.1	+	1	999	c.922G>T	c.(922-924)Gga>Tga	p.G308*		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	308					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)	p.G308*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						TGTTGTTCAGGGATTTGGTAA	0.388																																						uc004eto.2																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(922-924)GGA>TGA		glutamate dehydrogenase 2 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						227.0	207.0	214.0					X																	120182460		2203	4300	6503	SO:0001587	stop_gained	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120182460G>T	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.922G>T	X.37:g.120182460G>T	ENSP00000327589:p.Gly308*						p.G308*	NM_012084	NP_036216	P49448	DHE4_HUMAN			1	999	+			308					B2R8G0|Q9UDQ4	Nonsense_Mutation	SNP	ENST00000328078.1	37	c.922G>T	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016047	0.93404	.	.	ENSG00000182890	ENST00000328078	.	.	.	1.61	1.61	0.23674	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.2065	8.7757	0.34760	0.0:0.0:1.0:0.0	.	.	.	.	X	308	.	ENSP00000327589:G308X	G	+	1	0	GLUD2	120010141	1.000000	0.71417	0.997000	0.53966	0.941000	0.58515	6.619000	0.74219	1.126000	0.42016	0.472000	0.43445	GGA		PASS	0.388	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		5	77	5	77	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	124097479	124097479	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chrX:124097479A>T	ENST00000371130.3	-	1	187	c.124T>A	c.(124-126)Tcc>Acc	p.S42T	TENM1_ENST00000422452.2_Missense_Mutation_p.S42T	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	42	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S42T(1)									GTCTCCCTGGAGTTGTATGAC	0.423																																						uc004euj.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(124-126)TCC>ACC		odz, odd Oz/ten-m homolog 1 isoform 3							302.0	277.0	286.0					X																	124097479		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:124097479A>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.124T>A	X.37:g.124097479A>T	ENSP00000360171:p.Ser42Thr					ODZ1_uc011muj.1_Missense_Mutation_p.S42T|ODZ1_uc010nqy.2_Missense_Mutation_p.S42T	p.S42T	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			1	188	-			42			Teneurin N-terminal.|Cytoplasmic (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.124T>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.333085	0.81801	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.40225	1.04;1.04	5.78	5.78	0.91487	Teneurin intracellular, N-terminal (2);	0.000000	0.64402	D	0.000002	T	0.61236	0.2331	L	0.57536	1.79	0.52099	D	0.999948	D;D;D	0.57257	0.979;0.979;0.959	D;D;B	0.74023	0.982;0.982;0.446	T	0.63967	-0.6517	10	0.72032	D	0.01	.	15.0274	0.71680	1.0:0.0:0.0:0.0	.	42;42;42	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	T	42	ENSP00000360171:S42T;ENSP00000403954:S42T	ENSP00000360171:S42T	S	-	1	0	ODZ1	123925160	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.640000	0.91028	1.931000	0.55961	0.486000	0.48141	TCC		PASS	0.423	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		8	75	8	75	---	---	---	---
USP26	83844	broad.mit.edu	37	X	132162097	132162097	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chrX:132162097C>A	ENST00000511190.1	-	6	621	c.152G>T	c.(151-153)cGg>cTg	p.R51L	USP26_ENST00000406273.1_Missense_Mutation_p.R51L|USP26_ENST00000370832.1_Missense_Mutation_p.R51L	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	51					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.R51L(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					ATCACTTAGCCGAAAAGTGCT	0.318																																					NSCLC(104;342 1621 36940 47097 52632)	uc010nrm.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8						c.(151-153)CGG>CTG		ubiquitin-specific protease 26							74.0	72.0	72.0					X																	132162097		2203	4300	6503	SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132162097C>A	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.152G>T	X.37:g.132162097C>A	ENSP00000423390:p.Arg51Leu					USP26_uc011mvf.1_Missense_Mutation_p.R51L	p.R51L	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN			6	622	-	Acute lymphoblastic leukemia(192;0.000127)		51					B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	c.152G>T	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	C	8.755	0.922319	0.17982	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.55588	0.51;0.51;0.51	4.28	-3.63	0.04529	.	1.309710	0.05646	N	0.584244	T	0.27832	0.0685	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15752	-1.0426	10	0.54805	T	0.06	0.628	3.7213	0.08457	0.5302:0.2:0.0:0.2698	.	51	Q9BXU7	UBP26_HUMAN	L	51	ENSP00000359869:R51L;ENSP00000423390:R51L;ENSP00000384360:R51L	ENSP00000359869:R51L	R	-	2	0	USP26	131989763	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.830000	0.04410	-0.864000	0.04078	-2.595000	0.00163	CGG		PASS	0.318	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		15	14	15	14	---	---	---	---
PASD1	139135	broad.mit.edu	37	X	150790039	150790039	+	Silent	SNP	T	T	A			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chrX:150790039T>A	ENST00000370357.4	+	6	638	c.393T>A	c.(391-393)atT>atA	p.I131I		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	131						nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.I131I(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAATTTATTGTGAATGTAA	0.303																																						uc004fev.3																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(391-393)ATT>ATA		PAS domain containing 1							147.0	120.0	129.0					X																	150790039		2203	4298	6501	SO:0001819	synonymous_variant	139135					nucleus	signal transducer activity	g.chrX:150790039T>A	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.393T>A	X.37:g.150790039T>A							p.I131I	NM_173493	NP_775764	Q8IV76	PASD1_HUMAN			6	725	+	Acute lymphoblastic leukemia(192;6.56e-05)		131					Q3MNE0|Q69HD7|Q8N7X9	Silent	SNP	ENST00000370357.4	37	c.393T>A	CCDS35431.1																																																																																				PASS	0.303	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		3	4	3	4	---	---	---	---
GABRA3	2556	broad.mit.edu	37	X	151561985	151561985	+	Intron	SNP	A	A	G			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chrX:151561985A>G	ENST00000370314.4	-	2	213				MIR105-2_ENST00000385083.1_RNA|MIR105-1_ENST00000385222.1_RNA|MIR767_ENST00000390228.1_RNA	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	ATGAGCAAAAACCTACAATAT	0.428																																					NSCLC(142;2578 2613 10251 16743)	hsa-mir-767|MI0003763																			0					0															75.0	61.0	65.0					X																	151561985		1568	3582	5150	SO:0001627	intron_variant	768215							g.chrX:151561985A>G		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.26-28917T>C	X.37:g.151561985A>G						GABRA3_uc010ntk.1_Intron|MIR105-1_hsa-mir-105-1|MI0000111_5'Flank|uc004ffo.2_5'Flank										-								Q8TAF9	RNA	SNP	ENST00000370314.4	37	c.17A>G	CCDS14706.1																																																																																				PASS	0.428	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		5	6	5	6	---	---	---	---
TDRD5	163589	broad.mit.edu	37	1	179631354	179631354	+	Frame_Shift_Del	DEL	C	C	-			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr1:179631354delC	ENST00000367614.1	+	14	2635	c.2276delC	c.(2275-2277)tccfs	p.S759fs	TDRD5_ENST00000294848.8_Frame_Shift_Del_p.S759fs|TDRD5_ENST00000444136.1_Frame_Shift_Del_p.S813fs	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	759					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GATGCTGCCTCCCATCTATTT	0.433																																						uc001gnf.1																			0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(2275-2277)TCCfs		tudor domain containing 5							127.0	110.0	116.0					1																	179631354		2203	4300	6503	SO:0001589	frameshift_variant	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179631354delC	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2276delC	1.37:g.179631354delC	ENSP00000356586:p.Ser759fs					TDRD5_uc010pnp.1_Frame_Shift_Del_p.S813fs|TDRD5_uc001gnh.1_Frame_Shift_Del_p.S314fs	p.S759fs	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			14	2526	+			759					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Frame_Shift_Del	DEL	ENST00000367614.1	37	c.2276delC	CCDS1332.1																																																																																					0.433	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		33	27	33	27	---	---	---	---
FASTKD1	79675	broad.mit.edu	37	2	170411709	170411710	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr2:170411709_170411710delTT	ENST00000453153.2	-	7	1484_1485	c.1138_1139delAA	c.(1138-1140)aagfs	p.K380fs	FASTKD1_ENST00000453929.2_Frame_Shift_Del_p.K380fs	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	380					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						TTGAGTTATCTTCAACAACTCT	0.292																																						uc002uev.3																			0				ovary(4)	4						c.(1138-1140)AAGfs		FAST kinase domains 1																																				SO:0001589	frameshift_variant	79675				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:170411709_170411710delTT	AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.1138_1139delAA	2.37:g.170411709_170411710delTT	ENSP00000400513:p.Lys380fs					FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Frame_Shift_Del_p.K366fs	p.K380fs	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN			7	1526_1527	-			380					Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Frame_Shift_Del	DEL	ENST00000453153.2	37	c.1138_1139delAA	CCDS33318.1																																																																																					0.292	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		22	12	22	12	---	---	---	---
BSN	8927	broad.mit.edu	37	3	49693933	49693933	+	Frame_Shift_Del	DEL	C	C	-			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr3:49693933delC	ENST00000296452.4	+	5	7058	c.6944delC	c.(6943-6945)accfs	p.T2315fs		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2315					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCACAACCACCCCTGCTGCC	0.677																																						uc003cxe.3																			0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(6943-6945)ACCfs		bassoon protein							12.0	14.0	13.0					3																	49693933		2198	4293	6491	SO:0001589	frameshift_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49693933delC	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.6944delC	3.37:g.49693933delC	ENSP00000296452:p.Thr2315fs						p.T2315fs	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	7058	+			2315					O43161|Q7LGH3	Frame_Shift_Del	DEL	ENST00000296452.4	37	c.6944delC	CCDS2800.1																																																																																					0.677	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		8	4	8	4	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155411481	155411481	+	Frame_Shift_Del	DEL	C	C	-			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr4:155411481delC	ENST00000339452.1	-	1	1387	c.1027delG	c.(1027-1029)gcgfs	p.A343fs	DCHS2_ENST00000443500.1_Frame_Shift_Del_p.A343fs|DCHS2_ENST00000456341.2_Frame_Shift_Del_p.A336fs	NM_001142552.1	NP_001136024.1	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1518	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCGCTACCCGCCCCAGGCACT	0.746																																						uc003inx.2																			0				ovary(3)|pancreas(1)	4						c.(1027-1029)GCGfs		dachsous 2 isoform 2							2.0	3.0	3.0					4																	155411481		500	1249	1749	SO:0001589	frameshift_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155411481delC	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000339452.1:c.1027delG	4.37:g.155411481delC	ENSP00000345062:p.Ala343fs					DCHS2_uc011cik.1_Frame_Shift_Del_p.A343fs	p.A343fs	NM_001142552	NP_001136024	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	1	1397	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1312			Cadherin 11.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Frame_Shift_Del	DEL	ENST00000339452.1	37	c.1027delG	CCDS47150.1																																																																																					0.746	DCHS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000365282.1	NM_001142552		4	2	4	2	---	---	---	---
FBXO32	114907	broad.mit.edu	37	8	124512380	124512380	+	3'UTR	DEL	T	T	-			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr8:124512380delT	ENST00000517956.1	-	0	4492					NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32						cellular response to dexamethasone stimulus (GO:0071549)|protein ubiquitination (GO:0016567)|response to denervation involved in regulation of muscle adaptation (GO:0014894)	nucleolus (GO:0005730)|Z disc (GO:0030018)				autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGCCATTGGATTTTTTTTTTT	0.393																																						uc003yqp.1																			0													Homo sapiens cDNA FLJ13329 fis, clone OVARC1001795.																																				SO:0001624	3_prime_UTR_variant	0							g.chr8:124512380delT	AJ420108	CCDS6345.1, CCDS56553.1	8q24.13	2008-01-28	2004-06-15		ENSG00000156804	ENSG00000156804		"""F-boxes /  ""other"""""	16731	protein-coding gene	gene with protein product		606604	"""F-box only protein 32"""			11679633, 11717410	Standard	NM_058229		Approved	MAFbx, ATROGIN1, Fbx32	uc003yqr.3	Q969P5	OTTHUMG00000164981	ENST00000517956.1:c.*3233A>-	8.37:g.124512380delT														1		-								A4KYM0	RNA	DEL	ENST00000517956.1	37	c.1225delA	CCDS6345.1																																																																																					0.393	FBXO32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381281.1			5	3	5	3	---	---	---	---
C11orf95	65998	broad.mit.edu	37	11	63533335	63533337	+	lincRNA	DEL	TCC	TCC	-	rs373116664		TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr11:63533335_63533337delTCC	ENST00000546282.2	-	0	738				C11orf95_ENST00000433688.1_lincRNA																							ctcctcttcttcctcctcctcct	0.67																																						uc010rmv.1																			0					0						c.(577-582)GAGGAA>GAA		hypothetical protein LOC65998				177,2927		13,151,1388						-8.9	0.0			19	448,6300		26,396,2952	no	coding	C11orf95	NM_001144936.1		39,547,4340	A1A1,A1R,RR		6.639,5.7023,6.3439				625,9227						65998					intracellular	zinc ion binding	g.chr11:63533335_63533337delTCC																													11.37:g.63533344_63533346delTCC						C11orf95_uc001nxr.2_Intron|C11orf95_uc001nxs.2_In_Frame_Del_p.79_80EE>E	p.193_194EE>E	NM_001144936	NP_001138408	C9JLR9	CK095_HUMAN			2	598_600	-			193_194			Glu-rich.			In_Frame_Del	DEL	ENST00000546282.2	37	c.579_581delGGA																																																																																						0.670	RP11-466C23.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000396567.2			4	2	4	2	---	---	---	---
LRRIQ1	84125	broad.mit.edu	37	12	85459090	85459090	+	Frame_Shift_Del	DEL	G	G	-			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr12:85459090delG	ENST00000393217.2	+	9	2503	c.2442delG	c.(2440-2442)ctgfs	p.L814fs		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	814										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TCTCCACACTGGCAGAGTGTA	0.388																																						uc001tac.2																			0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2440-2442)CTGfs		leucine-rich repeats and IQ motif containing 1							143.0	135.0	138.0					12																	85459090		2203	4300	6503	SO:0001589	frameshift_variant	84125							g.chr12:85459090delG	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2442delG	12.37:g.85459090delG	ENSP00000376910:p.Leu814fs					LRRIQ1_uc001tab.1_Frame_Shift_Del_p.L814fs	p.L814fs	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	9	2553	+			814					Q567P4|Q9BS17|Q9HA36	Frame_Shift_Del	DEL	ENST00000393217.2	37	c.2442delG	CCDS41816.1																																																																																					0.388	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		39	21	39	21	---	---	---	---
RSPH1	89765	broad.mit.edu	37	21	43913095	43913095	+	Frame_Shift_Del	DEL	A	A	-			TCGA-66-2795-01A-02D-0983-08	TCGA-66-2795-11A-01D-0983-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73825564-8731-4137-972a-330490aceadc	91a156a5-f36e-4b67-b3b0-5996bf67e0ed	g.chr21:43913095delA	ENST00000291536.3	-	2	316	c.149delT	c.(148-150)ttcfs	p.F50fs	RSPH1_ENST00000398352.3_Intron	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	50					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						TCTTTTACCGAATTCGTAGCT	0.502																																					Esophageal Squamous(23;63 706 6286 10288 12913)	uc002zbg.2																			0				ovary(1)	1						c.(148-150)TTCfs		testis-specific gene A2							255.0	222.0	233.0					21																	43913095		2203	4300	6503	SO:0001589	frameshift_variant	89765				meiosis	cytosol|nucleus		g.chr21:43913095delA	AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"""meichroacidin"""	609314	"""testis specific A2 homolog (mouse)"""	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.149delT	21.37:g.43913095delA	ENSP00000291536:p.Phe50fs						p.F50fs	NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN			2	254	-			50			MORN 2.		A8MWV0|B2RBN9|Q3MJA1	Frame_Shift_Del	DEL	ENST00000291536.3	37	c.149delT	CCDS13688.1																																																																																					0.502	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195379.1			83	49	83	49	---	---	---	---
